diff --git a/backend/src/monarch_py/api/semsim.py b/backend/src/monarch_py/api/semsim.py index 24c6379b6..4e730f7d2 100644 --- a/backend/src/monarch_py/api/semsim.py +++ b/backend/src/monarch_py/api/semsim.py @@ -1,5 +1,4 @@ from fastapi import APIRouter, Path, Query -from typing import List from monarch_py.api.additional_models import ( SemsimCompareRequest, @@ -10,7 +9,7 @@ from monarch_py.api.config import semsimian, solr from monarch_py.api.utils.similarity_utils import parse_similarity_prefix from monarch_py.datamodels.category_enums import AssociationPredicate, EntityCategory -from monarch_py.datamodels.model import SearchResults, SemsimSearchResult +from monarch_py.datamodels.model import SearchResults router = APIRouter(tags=["semsim"], responses={404: {"description": "Not Found"}}) diff --git a/backend/src/monarch_py/datamodels/model.py b/backend/src/monarch_py/datamodels/model.py index 097509c87..a83be9820 100644 --- a/backend/src/monarch_py/datamodels/model.py +++ b/backend/src/monarch_py/datamodels/model.py @@ -79,6 +79,13 @@ class Association(ConfiguredBaseModel): has_evidence_links: Optional[List[ExpandedCurie]] = Field( default_factory=list, description="""List of ExpandedCuries with id and url for evidence""" ) + has_count: Optional[int] = Field(None, description="""count of out of has_total representing a frequency""") + has_total: Optional[int] = Field(None, description="""total, devided by has_count, representing a frequency""") + has_percentage: Optional[float] = Field( + None, + description="""percentage, which may be calculated from has_count and has_total, as 100 * quotient or provided directly, rounded to the integer level""", + ) + has_quotient: Optional[float] = Field(None, description="""quotient, which should be 1/100 of has_percentage""") grouping_key: Optional[str] = Field( None, description="""A concatenation of fields used to group associations with the same essential/defining properties""", @@ -264,6 +271,13 @@ class DirectionalAssociation(Association): has_evidence_links: Optional[List[ExpandedCurie]] = Field( default_factory=list, description="""List of ExpandedCuries with id and url for evidence""" ) + has_count: Optional[int] = Field(None, description="""count of out of has_total representing a frequency""") + has_total: Optional[int] = Field(None, description="""total, devided by has_count, representing a frequency""") + has_percentage: Optional[float] = Field( + None, + description="""percentage, which may be calculated from has_count and has_total, as 100 * quotient or provided directly, rounded to the integer level""", + ) + has_quotient: Optional[float] = Field(None, description="""quotient, which should be 1/100 of has_percentage""") grouping_key: Optional[str] = Field( None, description="""A concatenation of fields used to group associations with the same essential/defining properties""", diff --git a/backend/src/monarch_py/datamodels/model.yaml b/backend/src/monarch_py/datamodels/model.yaml index 1a6471c5a..b2080fb21 100644 --- a/backend/src/monarch_py/datamodels/model.yaml +++ b/backend/src/monarch_py/datamodels/model.yaml @@ -53,6 +53,10 @@ classes: - evidence_count - has_evidence - has_evidence_links + - has_count + - has_total + - has_percentage + - has_quotient - grouping_key - provided_by - provided_by_link @@ -389,6 +393,18 @@ slots: grouping_key: description: A concatenation of fields used to group associations with the same essential/defining properties range: string + has_count: + description: count of out of has_total representing a frequency + range: integer + has_total: + description: total, devided by has_count, representing a frequency + range: integer + has_percentage: + description: percentage, which may be calculated from has_count and has_total, as 100 * quotient or provided directly, rounded to the integer level + range: float + has_quotient: + description: quotient, which should be 1/100 of has_percentage + range: float has_evidence: range: string multivalued: true 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 90781585a..9e89f1125 100644 --- a/backend/src/monarch_py/implementations/solr/solr_query_utils.py +++ b/backend/src/monarch_py/implementations/solr/solr_query_utils.py @@ -82,6 +82,7 @@ def build_association_table_query( ) -> SolrQuery: if sort is None: sort = [ + "frequency_computed_sortable_float desc", "evidence_count desc", "subject_label asc", "predicate asc", diff --git a/backend/tests/fixtures/association_counts.py b/backend/tests/fixtures/association_counts.py index 120cd3b9e..097818b18 100644 --- a/backend/tests/fixtures/association_counts.py +++ b/backend/tests/fixtures/association_counts.py @@ -5,8 +5,8 @@ def association_counts(): return { "items": [ - {"label": "Phenotypes", "count": 3875, "category": "biolink:DiseaseToPhenotypicFeatureAssociation"}, - {"label": "Causal Genes", "count": 125, "category": "biolink:CausalGeneToDiseaseAssociation"}, + {"label": "Phenotypes", "count": 3873, "category": "biolink:DiseaseToPhenotypicFeatureAssociation"}, + {"label": "Causal Genes", "count": 124, "category": "biolink:CausalGeneToDiseaseAssociation"}, {"label": "Correlated Genes", "count": 139, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, ] } diff --git a/backend/tests/fixtures/association_counts_response.py b/backend/tests/fixtures/association_counts_response.py index 5f613d473..39c990c09 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": 0, + "QTime": 1, "params": { "facet.query": [ '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', @@ -45,3161 +45,1599 @@ def association_counts_response(): }, }, "response": { - "num_found": 4627, + "num_found": 4618, "start": 0, "docs": [ { - "id": "uuid:d0e1e695-ca9d-11ee-a7f0-61df2fcac487", - "original_subject": "Orphanet:610", - "predicate": "biolink:has_phenotype", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "primary_knowledge_source": "infores:hpo-annotations", - "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000304"], - "publications": ["orphanet:610"], - "frequency_qualifier": "HP:0040281", - "subject": "MONDO:0008029", - "object": "HP:0001371", - "subject_label": "Bethlem myopathy", - "subject_category": "biolink:Disease", - "subject_namespace": "MONDO", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4de7f552-d2a6-11ee-9025-e629eea977b9", + "original_subject": "NCBIGene:1760", + "predicate": "biolink:causes", + "original_object": "OMIM:160900", + "category": "biolink:CausalGeneToDiseaseAssociation", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:2933", + "object": "MONDO:0008056", + "subject_label": "DMPK", + "subject_category": "biolink:Gene", + "subject_namespace": "HGNC", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "object_label": "myotonic dystrophy type 1", + "object_category": "biolink:Disease", + "object_namespace": "MONDO", + "object_closure": [ "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0016107", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0008056", + "MONDO:0004994", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0024573", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", "MONDO:0000001", + "MONDO:0005217", + "MONDO:0016120", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0005045", + "MONDO:0004995", + "MONDO:0002254", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0000591", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0700096", ], - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "myotonic dystrophy type 1", + "familial cardiomyopathy", + "syndromic disease", + "myotonic dystrophy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", + "heart disorder", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "familial hypertrophic cardiomyopathy", + "disposition", "muscular dystrophy", - "specifically dependent continuant", - ], - "object_label": "Flexion contracture", - "object_category": "biolink:PhenotypicFeature", - "object_namespace": "HP", - "object_closure": [ - "UPHENO:0001001", - "HP:0034392", - "UPHENO:0020584", - "UPHENO:0046505", - "UPHENO:0075696", - "UPHENO:0087888", - "UPHENO:0002816", - "UPHENO:0002536", - "UPHENO:0088186", - "UPHENO:0002712", - "HP:0000001", - "UPHENO:0076703", - "HP:0034430", - "HP:0000924", - "UPHENO:0076692", - "PATO:0000001", - "HP:0003549", - "BFO:0000002", - "UPHENO:0075195", - "HP:0033127", - "UPHENO:0001003", - "HP:0100261", - "UPHENO:0021425", - "UPHENO:0002332", - "UPHENO:0081440", - "UPHENO:0076710", - "HP:0011843", - "UPHENO:0082875", - "HP:0000118", - "HP:0003011", - "UPHENO:0015280", - "UPHENO:0002964", - "UPHENO:0012541", - "HP:0001371", - "HP:0011842", - "HP:0011805", - "UPHENO:0001002", - "UPHENO:0031839", - "BFO:0000001", - "UPHENO:0068971", - "HP:0011729", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0046759", - ], - "object_closure_label": [ - "Flexion contracture", - "Abnormal skeletal morphology", - "Abnormal skeletal muscle morphology", - "Phenotypic abnormality", - "abnormal tendon morphology", - "abnormality of anatomical entity physiology", - "decreased length of tendon", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of anatomical entity", - "abnormal anatomical entity", - "abnormal tendon morphology", - "Abnormality of the musculature", - "abnormal anatomical entity", - "abnormal anatomical entity length", - "abnormal connective tissue", - "decreased size of the anatomical entity", - "Phenotypic abnormality", - "abnormal size of anatomical entity", - "decreased length of anatomical entity in independent continuant", - "Abnormality of connective tissue", - "abnormal musculature", - "abnormal anatomical entity morphology", - "phenotype", - "Abnormality of joint mobility", - "abnormal phenotype by ontology source", - "Abnormal joint physiology", - "Abnormality of the skeletal system", + "hypertrophic cardiomyopathy", + "cardiovascular disorder", + "disease", + "intrinsic cardiomyopathy", "entity", - "abnormality of anatomical entity physiology", - "Abnormal tendon morphology", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "abnormal skeletal system morphology", - "Joint contracture", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal anatomical entity morphology", - "continuant", - "specifically dependent continuant", - "abnormality of musculoskeletal system physiology", - "abnormal muscle organ morphology", - "Abnormal musculoskeletal physiology", + "myopathy", + "cardiomyopathy", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "myotonic syndrome", + "hereditary disease", + "muscle tissue disorder", ], - "frequency_qualifier_label": "Very frequent", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_closure": ["HP:0040281", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "Very frequent", "All"], - "evidence_count": 2, - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0001371", + "evidence_count": 0, + "grouping_key": "HGNC:2933||biolink:causes|MONDO:0008056", }, { - "id": "uuid:d0e1e696-ca9d-11ee-a7f0-61df2fcac487", - "original_subject": "Orphanet:610", - "predicate": "biolink:has_phenotype", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "primary_knowledge_source": "infores:hpo-annotations", - "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000304"], - "publications": ["orphanet:610"], - "frequency_qualifier": "HP:0040281", - "subject": "MONDO:0008029", - "object": "HP:0003458", - "subject_label": "Bethlem myopathy", - "subject_category": "biolink:Disease", - "subject_namespace": "MONDO", - "subject_closure": [ + "id": "uuid:4de9b8a6-d2a6-11ee-9025-e629eea977b9", + "original_subject": "NCBIGene:29925", + "predicate": "biolink:causes", + "original_object": "OMIM:615350", + "category": "biolink:CausalGeneToDiseaseAssociation", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:22932", + "object": "MONDO:0014140", + "subject_label": "GMPPB", + "subject_category": "biolink:Gene", + "subject_namespace": "HGNC", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14", + "object_category": "biolink:Disease", + "object_namespace": "MONDO", + "object_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0014140", + "MONDO:0019052", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0016155", + "MONDO:0018276", + "MONDO:0045010", + "MONDO:0024322", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0002320", + "MONDO:0700084", + "MONDO:0018282", "MONDO:0000001", + "MONDO:0015286", "MONDO:0020121", - "MONDO:0003939", + "OGMS:0000031", + "BFO:0000017", "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0017741", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0005066", + "MONDO:0000171", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0018939", ], - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14", + "disorder of protein O-glycosylation", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", + "metabolic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "inborn errors of metabolism", + "disorder of glycosylation", + "realizable entity", + "disposition", + "muscle-eye-brain disease", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - ], - "object_label": "EMG: myopathic abnormalities", - "object_category": "biolink:PhenotypicFeature", - "object_namespace": "HP", - "object_closure": [ - "UPHENO:0001001", - "HP:0003198", - "BFO:0000001", - "UPHENO:0002816", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0076692", - "HP:0033127", - "UPHENO:0001003", - "HP:0003458", - "UPHENO:0075696", - "BFO:0000002", - "HP:0003457", - "UPHENO:0076710", - "UPHENO:0082875", - "HP:0000118", - "HP:0003011", - "HP:0011805", - "UPHENO:0002332", - "UPHENO:0002320", - "UPHENO:0001005", - "UPHENO:0001002", - "BFO:0000020", - "HP:0011804", - "PATO:0000001", - ], - "object_closure_label": [ - "Abnormal skeletal muscle morphology", - "EMG abnormality", + "myopathy caused by variation in GMPPB", + "qualitative or quantitative defects of alpha-dystroglycan", + "disease", + "myopathy", "entity", - "Abnormality of the musculature", - "abnormal anatomical entity", - "abnormality of muscle organ physiology", - "Phenotypic abnormality", - "Abnormal muscle physiology", - "quality", - "Phenotypic abnormality", - "abnormal musculature", - "abnormal anatomical entity morphology", - "phenotype", - "abnormal phenotype by ontology source", - "abnormality of anatomical entity physiology", - "continuant", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "EMG: myopathic abnormalities", - "All", - "abnormality of anatomical entity physiology", - "Myopathy", - "abnormal anatomical entity", - "specifically dependent continuant", - "abnormal muscle organ morphology", + "congenital nervous system disorder", + "musculoskeletal system disorder", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "muscular dystrophy-dystroglycanopathy, type A", + "hereditary disease", + "muscle tissue disorder", + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", ], - "frequency_qualifier_label": "Very frequent", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_closure": ["HP:0040281", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "Very frequent", "All"], - "evidence_count": 2, - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0003458", + "evidence_count": 0, + "grouping_key": "HGNC:22932||biolink:causes|MONDO:0014140", }, { - "id": "uuid:d0e1e697-ca9d-11ee-a7f0-61df2fcac487", - "original_subject": "Orphanet:610", - "predicate": "biolink:has_phenotype", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "primary_knowledge_source": "infores:hpo-annotations", - "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000304"], - "publications": ["orphanet:610"], - "frequency_qualifier": "HP:0040281", - "subject": "MONDO:0008029", - "object": "HP:0003560", - "subject_label": "Bethlem myopathy", - "subject_category": "biolink:Disease", - "subject_namespace": "MONDO", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4de9c27e-d2a6-11ee-9025-e629eea977b9", + "original_subject": "NCBIGene:29925", + "predicate": "biolink:causes", + "original_object": "OMIM:615351", + "category": "biolink:CausalGeneToDiseaseAssociation", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:22932", + "object": "MONDO:0014141", + "subject_label": "GMPPB", + "subject_category": "biolink:Gene", + "subject_namespace": "HGNC", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14", + "object_category": "biolink:Disease", + "object_namespace": "MONDO", + "object_closure": [ + "MONDO:0014141", "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0019052", + "MONDO:0000172", "MONDO:0700223", + "MONDO:0016155", + "MONDO:0018276", + "MONDO:0045010", + "MONDO:0024322", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0002320", + "MONDO:0700084", + "MONDO:0018282", "MONDO:0000001", + "MONDO:0015286", "MONDO:0020121", - "MONDO:0003939", + "OGMS:0000031", + "BFO:0000017", "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0017741", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0005066", + "MONDO:0016139", + "MONDO:0700096", ], - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "disorder of protein O-glycosylation", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", + "muscular dystrophy-dystroglycanopathy, type B", "hereditary skeletal muscle disorder", - "continuant", + "specifically dependent continuant", + "metabolic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "inborn errors of metabolism", + "disorder of glycosylation", + "realizable entity", + "disposition", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - ], - "object_label": "Muscular dystrophy", - "object_category": "biolink:PhenotypicFeature", - "object_namespace": "HP", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0002816", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0076692", - "PATO:0000001", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0001005", - "BFO:0000002", - "UPHENO:0076710", - "HP:0000118", - "HP:0003011", - "HP:0011805", - "HP:0003560", - "BFO:0000001", - "UPHENO:0001002", - "BFO:0000020", - ], - "object_closure_label": [ - "Abnormal skeletal muscle morphology", - "Muscular dystrophy", - "Abnormality of the musculature", - "abnormal anatomical entity", - "Phenotypic abnormality", - "Phenotypic abnormality", - "abnormal musculature", - "abnormal anatomical entity morphology", - "phenotype", + "myopathy caused by variation in GMPPB", + "qualitative or quantitative defects of alpha-dystroglycan", + "disease", "entity", - "abnormal phenotype by ontology source", "continuant", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "specifically dependent continuant", - "abnormal muscle organ morphology", + "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14", + "myopathy", + "congenital nervous system disorder", + "musculoskeletal system disorder", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "muscle tissue disorder", + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", ], - "frequency_qualifier_label": "Very frequent", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_closure": ["HP:0040281", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "Very frequent", "All"], - "evidence_count": 2, - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0003560", + "evidence_count": 0, + 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"object_closure": [ + "MONDO:0006025", "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", + "MONDO:0029136", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0015152", "MONDO:0000001", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "MONDO:0016106", + "MONDO:0016971", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0100228", + "MONDO:0000429", + "BFO:0000017", + "MONDO:0700096", ], - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "LAMA2-related muscular dystrophy", + "autosomal 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"MONDO:0008029", - "object": "HP:0002938", - "subject_label": "Bethlem myopathy", - "subject_category": "biolink:Disease", - "subject_namespace": "MONDO", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df380e8-d2a6-11ee-9025-e629eea977b9", + "original_subject": "NCBIGene:1789", + "predicate": "biolink:causes", + "original_object": "OMIM:619478", + "category": "biolink:CausalGeneToDiseaseAssociation", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:2979", + "object": "MONDO:0030355", + "subject_label": "DNMT3B", + "subject_category": "biolink:Gene", + "subject_namespace": "HGNC", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "object_label": "facioscapulohumeral muscular dystrophy 4, digenic", + "object_category": "biolink:Disease", + "object_namespace": "MONDO", + "object_closure": [ "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0030355", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", "MONDO:0000001", + "MONDO:0001347", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0019303", + "MONDO:0100137", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0700096", ], - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "disposition", "muscular dystrophy", - "specifically dependent continuant", - ], - "object_label": "Lumbar hyperlordosis", - "object_category": "biolink:PhenotypicFeature", - "object_namespace": "HP", - "object_closure": [ - "UPHENO:0001001", - "HP:0000925", - "UPHENO:0020584", - "HP:0010674", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0076703", - "HP:0000924", - "UPHENO:0087089", - "UPHENO:0076692", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000002", - "HP:0009121", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0022529", - "UPHENO:0075696", - "HP:0000118", - "UPHENO:0015280", - "UPHENO:0002964", - "HP:0003307", - "HP:0011842", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0002813", - "HP:0002938", - "BFO:0000001", - ], - "object_closure_label": [ - "Abnormal skeletal morphology", - "abnormal vertebral column", - "Lumbar hyperlordosis", - "Abnormality of the vertebral column", - "abnormal anatomical entity", - "Phenotypic abnormality", - "Abnormal axial skeleton morphology", - "Abnormal curvature of the vertebral column", - "abnormal anatomical entity morphology", - "abnormal postcranial axial skeleton morphology", - "phenotype", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "Abnormality of the skeletal system", - "abnormal axial skeleton plus cranial skeleton morphology", + "disease", + "telomere syndrome", "entity", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "abnormal skeletal system morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal anatomical entity morphology", - "abnormal anatomical entity", - "continuant", - "specifically dependent continuant", - "Hyperlordosis", + "premature aging syndrome", + "myopathy", + "progressive muscular dystrophy", + "facioscapulohumeral muscular dystrophy", + "musculoskeletal system disorder", + "facioscapulohumeral muscular dystrophy 4, digenic", + "hereditary disease", + "muscle tissue disorder", ], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], - "evidence_count": 2, - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002938", + "evidence_count": 0, + "grouping_key": "HGNC:2979||biolink:causes|MONDO:0030355", }, ], }, "facet_counts": { "facet_fields": {}, "facet_queries": { - '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 3875, + '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 3873, '(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, @@ -3221,7 +1659,7 @@ def association_counts_response(): '(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:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 124, '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 139, }, }, diff --git a/backend/tests/fixtures/association_response.py b/backend/tests/fixtures/association_response.py index 0b4089677..c04560f3d 100644 --- a/backend/tests/fixtures/association_response.py +++ b/backend/tests/fixtures/association_response.py @@ -19,3154 +19,1592 @@ def association_response(): }, }, "response": { - "num_found": 4627, + "num_found": 4618, "start": 0, "docs": [ { - "id": "uuid:d0e1e695-ca9d-11ee-a7f0-61df2fcac487", - "original_subject": "Orphanet:610", - "predicate": "biolink:has_phenotype", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "primary_knowledge_source": "infores:hpo-annotations", - "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000304"], - "publications": ["orphanet:610"], - "frequency_qualifier": "HP:0040281", - "subject": "MONDO:0008029", - "object": "HP:0001371", - "subject_label": "Bethlem myopathy", - "subject_category": "biolink:Disease", - "subject_namespace": "MONDO", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4de7f552-d2a6-11ee-9025-e629eea977b9", + "original_subject": "NCBIGene:1760", + "predicate": "biolink:causes", + "original_object": "OMIM:160900", + "category": "biolink:CausalGeneToDiseaseAssociation", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:2933", + "object": "MONDO:0008056", + "subject_label": "DMPK", + 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["ECO:0000304"], - "publications": ["orphanet:610"], - "frequency_qualifier": "HP:0040283", - "subject": "MONDO:0008029", - "object": "HP:0002515", - "subject_label": "Bethlem myopathy", - "subject_category": "biolink:Disease", - "subject_namespace": "MONDO", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df30c4e-d2a6-11ee-9025-e629eea977b9", + "original_subject": "NCBIGene:1120", + "predicate": "biolink:causes", + "original_object": "OMIM:602541", + "category": "biolink:CausalGeneToDiseaseAssociation", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:1938", + "object": "MONDO:0011246", + "subject_label": "CHKB", + "subject_category": "biolink:Gene", + "subject_namespace": "HGNC", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "object_label": "megaconial type congenital muscular dystrophy", + "object_category": "biolink:Disease", + "object_namespace": "MONDO", + "object_closure": [ "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0019052", "MONDO:0700223", + "MONDO:0011246", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0002320", "MONDO:0000001", + "MONDO:0002525", "MONDO:0020121", - "MONDO:0003939", + "MONDO:0018117", + "OGMS:0000031", + "BFO:0000017", "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0005066", + "MONDO:0700096", ], - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "inherited lipid metabolism disorder", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", - "continuant", + "specifically dependent continuant", + "metabolic disease", + "disorder of phospholipids, sphingolipids and fatty acids biosynthesis", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "inborn errors of metabolism", + "realizable entity", + "disposition", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - ], - "object_label": "Waddling gait", - "object_category": "biolink:PhenotypicFeature", - "object_namespace": "HP", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0049622", - "BFO:0000001", - "UPHENO:0001005", - "UPHENO:0002433", - "UPHENO:0002536", - "UPHENO:0049587", - "HP:0000001", - "UPHENO:0080585", - "HP:0002515", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0075696", - "UPHENO:0078622", - "UPHENO:0049586", - "BFO:0000020", - "UPHENO:0050606", - "HP:0001288", - "UPHENO:0079833", - "UPHENO:0082875", - "HP:0100022", - "HP:0000118", - "UPHENO:0050613", - "HP:0011446", - "HP:0012638", - "UPHENO:0002332", - "HP:0000707", - "UPHENO:0079826", - "UPHENO:0004523", - "HP:0000708", - ], - "object_closure_label": [ - "specifically dependent continuant", - "abnormal voluntary musculoskeletal movement", - "Atypical behavior", + "disease", "entity", - "Abnormal nervous system physiology", - "abnormal phenotype by ontology source", - "abnormal musculoskeletal movement", - "abnormal anatomical entity", - "abnormal biological_process", - "abnormal behavior", - "Phenotypic abnormality", - "abnormal behavior process", - "abnormal nervous system", - "abnormality of nervous system physiology", - "Waddling gait", - "phenotype", - "Phenotypic abnormality", - "Gait disturbance", - "abnormality of anatomical entity physiology", - "phenotype by ontology source", - "quality", - "All", - "abnormal behavior process", - "abnormality of anatomical entity physiology", - "abnormal anatomical entity", - "abnormal voluntary movement behavior", - "abnormal response to stimulus", - "Abnormality of movement", "continuant", - "Abnormality of the nervous system", - "Abnormality of mental function", - "abnormal voluntary movement behavior", + "myopathy", + "congenital nervous system disorder", + "musculoskeletal system disorder", + "hereditary disease", + "muscle tissue disorder", + "megaconial type congenital muscular dystrophy", ], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], - "evidence_count": 2, - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002515", + "evidence_count": 0, + "grouping_key": "HGNC:1938||biolink:causes|MONDO:0011246", }, { - "id": "uuid:d0e1e6ae-ca9d-11ee-a7f0-61df2fcac487", - "original_subject": "Orphanet:610", - "predicate": "biolink:has_phenotype", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "primary_knowledge_source": "infores:hpo-annotations", - "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000304"], - "publications": ["orphanet:610"], - "frequency_qualifier": "HP:0040283", - "subject": "MONDO:0008029", - "object": "HP:0002791", - "subject_label": "Bethlem myopathy", - "subject_category": "biolink:Disease", - "subject_namespace": "MONDO", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df364a0-d2a6-11ee-9025-e629eea977b9", + "original_subject": "NCBIGene:3908", + "predicate": "biolink:causes", + "original_object": "OMIM:618138", + "category": "biolink:CausalGeneToDiseaseAssociation", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:6482", + "object": "MONDO:0029136", + "subject_label": "LAMA2", + "subject_category": "biolink:Gene", + "subject_namespace": "HGNC", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "object_label": "muscular dystrophy, limb-girdle, autosomal recessive 23", + "object_category": "biolink:Disease", + "object_namespace": "MONDO", + "object_closure": [ + "MONDO:0006025", "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", + "MONDO:0029136", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0015152", "MONDO:0000001", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "MONDO:0016106", + "MONDO:0016971", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0100228", + "MONDO:0000429", + "BFO:0000017", + "MONDO:0700096", ], - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "LAMA2-related muscular dystrophy", + "autosomal genetic disease", + "muscular dystrophy, limb-girdle, autosomal recessive 23", + "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", - "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "disposition", "muscular dystrophy", - "specifically dependent continuant", - ], - "object_label": "Hypoventilation", - "object_category": "biolink:PhenotypicFeature", - "object_namespace": "HP", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0002536", - "HP:0002791", - "HP:0000001", - "UPHENO:0004536", - "HP:0002793", - "PATO:0000001", - "UPHENO:0002448", - "UPHENO:0001002", - "BFO:0000002", - "UPHENO:0001003", - "HP:0002795", - "UPHENO:0075696", - "BFO:0000020", - "UPHENO:0082875", - "HP:0000118", - "UPHENO:0002332", - "UPHENO:0001005", - "BFO:0000001", - "HP:0002086", - ], - "object_closure_label": [ - "specifically dependent continuant", - "abnormal anatomical entity", - "Hypoventilation", - "Phenotypic abnormality", - "Abnormality of the respiratory system", - "abnormality of respiratory system physiology", - "Abnormal respiratory system physiology", - "phenotype", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "Abnormal pattern of respiration", + "disease", "entity", - "abnormality of anatomical entity physiology", - "phenotype by ontology source", - "quality", - "All", - "abnormal respiratory system", - "abnormality of anatomical entity physiology", - "abnormal anatomical entity", "continuant", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "realizable entity", + "hereditary disease", + "muscle tissue disorder", ], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], - "evidence_count": 2, - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002791", + "evidence_count": 0, + "grouping_key": "HGNC:6482||biolink:causes|MONDO:0029136", }, { - "id": "uuid:d0e1e6af-ca9d-11ee-a7f0-61df2fcac487", - "original_subject": "Orphanet:610", - "predicate": "biolink:has_phenotype", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "primary_knowledge_source": "infores:hpo-annotations", - "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000304"], - "publications": ["orphanet:610"], - "frequency_qualifier": "HP:0040283", - "subject": "MONDO:0008029", - "object": "HP:0002938", - "subject_label": "Bethlem myopathy", - "subject_category": "biolink:Disease", - "subject_namespace": "MONDO", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df380e8-d2a6-11ee-9025-e629eea977b9", + "original_subject": "NCBIGene:1789", + "predicate": "biolink:causes", + "original_object": "OMIM:619478", + "category": "biolink:CausalGeneToDiseaseAssociation", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:2979", + "object": "MONDO:0030355", + "subject_label": "DNMT3B", + "subject_category": "biolink:Gene", + "subject_namespace": "HGNC", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "object_label": "facioscapulohumeral muscular dystrophy 4, digenic", + "object_category": "biolink:Disease", + "object_namespace": "MONDO", + "object_closure": [ "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0030355", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", "MONDO:0000001", + "MONDO:0001347", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0019303", + "MONDO:0100137", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0700096", ], - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "disposition", "muscular dystrophy", - "specifically dependent continuant", - ], - "object_label": "Lumbar hyperlordosis", - "object_category": "biolink:PhenotypicFeature", - "object_namespace": "HP", - "object_closure": [ - "UPHENO:0001001", - "HP:0000925", - "UPHENO:0020584", - "HP:0010674", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0076703", - "HP:0000924", - "UPHENO:0087089", - "UPHENO:0076692", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000002", - "HP:0009121", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0022529", - "UPHENO:0075696", - "HP:0000118", - "UPHENO:0015280", - "UPHENO:0002964", - "HP:0003307", - "HP:0011842", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0002813", - "HP:0002938", - "BFO:0000001", - ], - "object_closure_label": [ - "Abnormal skeletal morphology", - "abnormal vertebral column", - "Lumbar hyperlordosis", - "Abnormality of the vertebral column", - "abnormal anatomical entity", - "Phenotypic abnormality", - "Abnormal axial skeleton morphology", - "Abnormal curvature of the vertebral column", - "abnormal anatomical entity morphology", - "abnormal postcranial axial skeleton morphology", - "phenotype", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "Abnormality of the skeletal system", - "abnormal axial skeleton plus cranial skeleton morphology", + "disease", + "telomere syndrome", "entity", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "abnormal skeletal system morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal anatomical entity morphology", - "abnormal anatomical entity", - "continuant", - "specifically dependent continuant", - "Hyperlordosis", + "premature aging syndrome", + "myopathy", + "progressive muscular dystrophy", + "facioscapulohumeral muscular dystrophy", + "musculoskeletal system disorder", + "facioscapulohumeral muscular dystrophy 4, digenic", + "hereditary disease", + "muscle tissue disorder", ], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], - "evidence_count": 2, - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002938", + "evidence_count": 0, + "grouping_key": "HGNC:2979||biolink:causes|MONDO:0030355", }, ], }, diff --git a/backend/tests/fixtures/association_table.py b/backend/tests/fixtures/association_table.py index e35f96a65..e18787538 100644 --- a/backend/tests/fixtures/association_table.py +++ b/backend/tests/fixtures/association_table.py @@ -6,119 +6,293 @@ def association_table(): return { "limit": 5, "offset": 0, - "total": 3875, + "total": 3873, "items": [ { - "id": "uuid:cc29dff0-ca9d-11ee-a7f0-61df2fcac487", + "id": "uuid:9bf8349e-d820-11ee-baca-e629eea977b9", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0020793", - "original_subject": "OMIM:164310", + "subject": "MONDO:0013049", + "original_subject": "OMIM:612937", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ + "MONDO:0016333", + "BFO:0000001", "MONDO:0005071", + "MONDO:0005267", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0019052", + "MONDO:0005500", + "MONDO:0004994", + "MONDO:0700223", + "MONDO:0005021", + "MONDO:0018276", + "MONDO:0024322", "BFO:0000002", "BFO:0000016", - "BFO:0000001", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", "MONDO:0003847", - "MONDO:0700223", - "MONDO:0020793", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0018949", + "MONDO:0003939", + "MONDO:0002320", "MONDO:0000001", - "MONDO:0025193", + "MONDO:0005217", + "MONDO:0015286", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0020120", + "MONDO:0004995", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0000591", + "MONDO:0019950", + "MONDO:0005336", + "MONDO:0017749", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0005066", + "MONDO:0013049", + "MONDO:0700096", ], - "subject_label": "oculopharyngodistal myopathy 1", + "subject_label": "DPM3-congenital disorder of glycosylation", "subject_closure_label": [ - "oculopharyngodistal myopathy 1", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "disposition", - "muscle tissue disorder", + "DPM3-congenital disorder of glycosylation", + "familial cardiomyopathy", + "dilated cardiomyopathy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "disease", + "heart disorder", "hereditary skeletal muscle disorder", + "specifically dependent continuant", + "metabolic disease", "human disease", - "hereditary disease", - "continuant", - "skeletal muscle disorder", - "oculopharyngodistal myopathy", + "disease", + "inborn errors of metabolism", + "congenital disorder of glycosylation type I", + "disorder of glycosylation", + "realizable entity", + "disposition", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - "distal myopathy", + "cardiovascular disorder", + "familial dilated cardiomyopathy", + "disease", + "intrinsic cardiomyopathy", + "entity", + "continuant", + "myopathy", + "congenital nervous system disorder", + "cardiomyopathy", + "musculoskeletal system disorder", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy", + "disorder of multiple glycosylation", + "hereditary disease", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0002460", + "object": "HP:0003236", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "UPHENO:0002816", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0080555", - "PATO:0000001", "UPHENO:0001002", - "BFO:0000002", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0075696", - "UPHENO:0082875", - "HP:0000118", - "HP:0003011", + "UBERON:0000468", "UPHENO:0002332", - "HP:0002460", + "HP:0002086", + "UBERON:0010000", + "GO:1990234", + "CHEBI:33839", + "CHEBI:33675", + "CHEBI:138675", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", + "HP:0000001", + "HP:0011021", + "UPHENO:0077825", + "HP:0012415", + "UPHENO:0051612", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "GO:1902494", + "CHEBI:36357", + "CHEBI:33579", + "BFO:0000002", + "UPHENO:0004459", "BFO:0000001", - "UPHENO:0002320", + "CHEBI:23367", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0000178", + "UBERON:0001004", + "GO:0061695", + "CHEBI:15841", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:16670", + "HP:0004364", + "UPHENO:0082875", "UPHENO:0001005", - "HP:0001324", + "UPHENO:0046284", + "HP:0040081", + "UPHENO:0001003", + "BFO:0000015", + "BFO:0000004", + "UPHENO:0001001", + "UPHENO:0002536", + "GO:0008152", + "UPHENO:0077817", + "UPHENO:0076289", + "UPHENO:0002448", + "HP:0010876", + "UPHENO:0077820", + "HP:0500165", + "PATO:0000001", + "HP:0002795", + "UPHENO:0051763", + "HP:0000118", + "UPHENO:0077829", + "HP:0001939", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "GO:0005575", + "CHEBI:24431", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0075696", "BFO:0000020", - "UPHENO:0080556", - "HP:0011804", + "UPHENO:0076286", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0004536", + "UPHENO:0051668", + "HP:0001871", + "UPHENO:0077821", + "UPHENO:0051801", + "BFO:0000001", + "UBERON:0001062", + "GO:0032991", + "UBERON:0000467", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", ], - "object_label": "Distal muscle weakness", + "object_label": "Elevated circulating creatine kinase concentration (HPO)", "object_closure_label": [ - "Abnormality of the musculature", "abnormal anatomical entity", - "abnormality of muscle organ physiology", - "Phenotypic abnormality", - "Distal muscle weakness", - "Abnormal muscle physiology", - "Muscle weakness", - "abnormal musculature", - "phenotype", - "abnormal phenotype by ontology source", "Phenotypic abnormality", - "decreased anatomical entity strength", - "entity", "abnormality of anatomical entity physiology", - "decreased muscle organ strength", - "Abnormality of the musculoskeletal system", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration (HPO)", + "process", + "independent continuant", + "protein-containing complex", + "abnormal respiratory system", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality (HPO)", + "abnormal chemical entity level", + "abnormal anatomical entity", + "cellular_component", + "chemical entity", + "material anatomical entity", + "protein-containing material entity", + "transferase complex", + "macromolecule", + "p-block molecular entity", + "gas molecular entity", + "abnormal blood gas molecular entity level", + "specifically dependent continuant", + "Abnormal circulating creatine kinase concentration (HPO)", "phenotype by ontology source", + "entity", + "Elevated circulating creatine kinase concentration (HPO)", + "abnormal blood oxygen molecular entity level", + "abnormal role independent continuant level", + "abnormality of respiratory system physiology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the respiratory system (HPO)", + "occurrent", + "continuant", + "molecular entity", + "anatomical structure", + "organism substance", + "blood", + "anatomical system", + "mesoderm-derived structure", + "bodily fluid", + "phenotype", + "abnormal hematopoietic system", "quality", - "All", + "Abnormal respiratory system physiology (HPO)", + "multicellular anatomical structure", + "creatine kinase complex", + "protein polypeptide chain", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "carboxamide", + "organic amino compound", + "primary amide", + "metabolic process", + "peptide", + "Abnormal circulating nitrogen compound concentration (HPO)", "abnormality of anatomical entity physiology", - "abnormal anatomical entity", + "abnormal independent continuant oxygen molecular entity level", + "Abnormal circulating protein concentration (HPO)", + "abnormal independent continuant gas molecular entity level", + "multicellular organism", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "abnormal multicellular organism chemical entity level", "continuant", - "specifically dependent continuant", + "Abnormal blood oxygen level (HPO)", + "entity", + "biological_process", + "material entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "respiratory system", + "All (HPO)", + "Abnormality of circulating enzyme level (HPO)", + "abnormal phenotype by ontology source", + "abnormal role blood level", + "anatomical entity", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis (HPO)", + "Abnormal blood gas level (HPO)", + "abnormal blood protein polypeptide chain level", + "abnormal blood chemical entity level", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid", ], "object_taxon": None, "object_taxon_label": None, @@ -126,22 +300,25 @@ def association_table(): "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 4, + "evidence_count": 3, "has_evidence": ["ECO:0000269"], "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "grouping_key": "MONDO:0020793||biolink:has_phenotype|HP:0002460", + "has_count": 2, + "has_total": 2, + "has_percentage": 100.0, + "has_quotient": 1.0, + "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:21242490", "PMID:32493488", "PMID:31332380"], + "publications": ["PMID:19576565", "PMID:28803818"], "publications_links": [ - {"id": "PMID:21242490", "url": "http://identifiers.org/pubmed/21242490"}, - {"id": "PMID:32493488", "url": "http://identifiers.org/pubmed/32493488"}, - {"id": "PMID:31332380", "url": "http://identifiers.org/pubmed/31332380"}, + {"id": "PMID:19576565", "url": "http://identifiers.org/pubmed/19576565"}, + {"id": "PMID:28803818", "url": "http://identifiers.org/pubmed/28803818"}, ], - "frequency_qualifier": "HP:0040282", + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -157,11 +334,11 @@ def association_table(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -178,134 +355,161 @@ def association_table(): "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], "direction": "outgoing", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:cc29e001-ca9d-11ee-a7f0-61df2fcac487", + "id": "uuid:9e32d674-d820-11ee-baca-e629eea977b9", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0020793", - "original_subject": "OMIM:164310", + "subject": "MONDO:0009676", + "original_subject": "OMIM:253601", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ + "MONDO:0006025", + "BFO:0000001", "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0700223", + "MONDO:0016145", "BFO:0000002", "BFO:0000016", - "BFO:0000001", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", "MONDO:0003847", - "MONDO:0700223", - "MONDO:0020793", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0018949", + "MONDO:0003939", + "MONDO:0015152", "MONDO:0000001", - "MONDO:0025193", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0020120", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0016971", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0000429", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0009676", ], - "subject_label": "oculopharyngodistal myopathy 1", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", "subject_closure_label": [ - "oculopharyngodistal myopathy 1", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "disposition", - "muscle tissue disorder", + "autosomal genetic disease", + "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", + "hereditary skeletal muscle disorder", + "specifically dependent continuant", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "disease", + "realizable entity", + "disposition", + "autosomal recessive limb-girdle muscular dystrophy type 2B", + "muscular dystrophy", "disease", + "entity", + "continuant", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", "progressive muscular dystrophy", "musculoskeletal system disorder", - "disease", - "hereditary skeletal muscle disorder", - "human disease", + "qualitative or quantitative defects of dysferlin", "hereditary disease", - "continuant", - "skeletal muscle disorder", - "oculopharyngodistal myopathy", - "muscular dystrophy", - "specifically dependent continuant", - "distal myopathy", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0002015", + "object": "HP:0003701", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "UPHENO:0002471", - "HP:0025270", - "BFO:0000001", - "UPHENO:0002433", - "HP:0025032", + "UPHENO:0001002", + "HP:0001324", "UPHENO:0002536", + "BFO:0000001", + "UBERON:0000468", + "UBERON:0011216", + "UPHENO:0002332", + "HP:0011804", + "UBERON:0010000", + "UBERON:0000383", + "UBERON:0001015", "HP:0000001", - "UPHENO:0002725", - "HP:0011793", - "PATO:0000001", - "HP:0011024", - "UPHENO:0002443", - "UPHENO:0001003", - "UPHENO:0075696", - "HP:0012719", "UPHENO:0001005", + "BFO:0000040", + "UBERON:0001062", "BFO:0000002", - "HP:0002664", + "BFO:0000001", + "UBERON:0000061", "UPHENO:0082875", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "BFO:0000004", + "UPHENO:0001001", + "HP:0003701", + "UPHENO:0080555", + "PATO:0000001", + "UPHENO:0002320", "HP:0000118", - "HP:0025031", - "UPHENO:0002474", - "HP:0012638", - "UPHENO:0002833", - "HP:0002015", - "UPHENO:0001002", - "UPHENO:0002332", - "UPHENO:0004523", + "UPHENO:0002816", + "UBERON:0000465", + "UPHENO:0075696", "BFO:0000020", - "HP:0000707", + "BFO:0000002", + "UBERON:0001630", + "UPHENO:0080556", + "UBERON:0000467", + "UBERON:0005090", + "UBERON:0000062", ], - "object_label": "Dysphagia", + "object_label": "Proximal muscle weakness (HPO)", "object_closure_label": [ - "abnormal digestive system", - "Dysphagia", - "Phenotypic abnormality", - "Neoplasm", - "entity", - "Abnormality of the digestive system", - "abnormality of esophagus physiology", - "Abnormal nervous system physiology", "abnormal anatomical entity", - "abnormality of alimentary part of gastrointestinal system physiology", - "Abnormal esophagus physiology", "Phenotypic abnormality", - "Neoplasm by anatomical site", - "abnormal nervous system", - "Abnormality of the gastrointestinal tract", - "abnormality of digestive system physiology", - "abnormality of nervous system physiology", - "Abnormality of digestive system physiology", - "phenotype", - "abnormal alimentary part of gastrointestinal system", + "Muscle weakness (HPO)", "abnormality of anatomical entity physiology", - "Functional abnormality of the gastrointestinal tract", + "independent continuant", + "Phenotypic abnormality (HPO)", + "Abnormality of the musculature (HPO)", + "material anatomical entity", + "abnormality of muscle organ physiology", "abnormal phenotype by ontology source", - "continuant", - "Abnormality of the nervous system", + "specifically dependent continuant", + "Abnormality of the musculoskeletal system (HPO)", "phenotype by ontology source", + "decreased muscle organ strength", + "Abnormal muscle physiology (HPO)", + "continuant", + "anatomical structure", + "anatomical system", + "muscle structure", + "phenotype", "quality", - "All", - "abnormality of anatomical entity physiology", + "multicellular anatomical structure", "abnormal anatomical entity", - "specifically dependent continuant", + "abnormality of anatomical entity physiology", + "abnormal musculature", + "entity", + "multicellular organism", + "organ system subdivision", + "continuant", + "entity", + "material entity", + "anatomical entity", + "musculature of body", + "musculature", + "All (HPO)", + "decreased anatomical entity strength", + "organ", + "Proximal muscle weakness (HPO)", + "muscle organ", ], "object_taxon": None, "object_taxon_label": None, @@ -313,22 +517,25 @@ def association_table(): "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 4, + "evidence_count": 3, "has_evidence": ["ECO:0000269"], "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "grouping_key": "MONDO:0020793||biolink:has_phenotype|HP:0002015", + "has_count": 32, + "has_total": 32, + "has_percentage": 100.0, + "has_quotient": 1.0, + "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:21242490", "PMID:32493488", "PMID:31332380"], + "publications": ["PMID:9731527", "PMID:9009996"], "publications_links": [ - {"id": "PMID:21242490", "url": "http://identifiers.org/pubmed/21242490"}, - {"id": "PMID:32493488", "url": "http://identifiers.org/pubmed/32493488"}, - {"id": "PMID:31332380", "url": "http://identifiers.org/pubmed/31332380"}, + {"id": "PMID:9731527", "url": "http://identifiers.org/pubmed/9731527"}, + {"id": "PMID:9009996", "url": "http://identifiers.org/pubmed/9009996"}, ], - "frequency_qualifier": "HP:0040282", + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -344,11 +551,11 @@ def association_table(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -365,146 +572,289 @@ def association_table(): "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], "direction": "outgoing", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:c9a9b498-ca9d-11ee-a7f0-61df2fcac487", + "id": "uuid:9ac938de-d820-11ee-baca-e629eea977b9", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0013049", - "original_subject": "OMIM:612937", + "subject": "MONDO:0011968", + "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ + "MONDO:0006025", + "MONDO:0016333", "MONDO:0005071", - "BFO:0000016", - "BFO:0000001", - "MONDO:0013049", - "MONDO:0015286", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0018276", + "MONDO:0005267", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0004994", + "MONDO:0700223", "BFO:0000002", + "MONDO:0005021", + "BFO:0000016", "MONDO:0003847", - "MONDO:0700223", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0015152", "MONDO:0000001", + "MONDO:0005217", + "MONDO:0016141", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019052", - "MONDO:0019950", - "MONDO:0024322", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0004995", + "MONDO:0016140", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0000591", + "MONDO:0016971", + "MONDO:0011968", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", - "MONDO:0017749", - "MONDO:0005500", - "MONDO:0005066", + "MONDO:0000429", + "MONDO:0016139", + "MONDO:0700096", ], - "subject_label": "DPM3-congenital disorder of glycosylation", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ - "disorder of glycosylation", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "disorder of multiple glycosylation", - "entity", - "congenital muscular dystrophy", - "DPM3-congenital disorder of glycosylation", - "disposition", - "muscle tissue disorder", - "congenital disorder of glycosylation", + "autosomal genetic disease", + "familial cardiomyopathy", + "dilated cardiomyopathy", + "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", - "congenital disorder of glycosylation type I", - "metabolic disease", - "muscular dystrophy-dystroglycanopathy", - "disease", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", + "heart disorder", "hereditary skeletal muscle disorder", - "human disease", - "hereditary disease", - "skeletal muscle disorder", - "inborn errors of metabolism", - "muscular dystrophy", "continuant", "specifically dependent continuant", + "qualitative or quantitative defects of alpha-sarcoglycan", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "disease", + "realizable entity", + "disposition", + "muscular dystrophy", + "cardiovascular disorder", + "sarcoglycanopathy", + "familial dilated cardiomyopathy", + "disease", + "autosomal recessive limb-girdle muscular dystrophy type 2D", + "intrinsic cardiomyopathy", + "autosomal recessive disease", + "myopathy", + "entity", + "autosomal recessive limb-girdle muscular dystrophy", + "cardiomyopathy", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "hereditary disease", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0003236", + "object": "HP:0008981", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "UPHENO:0051763", + "HP:0008981", + "UPHENO:0084535", + "UPHENO:0001002", + "HP:0030236", + "BFO:0000001", + "UBERON:0000468", + "UBERON:0011216", + "UBERON:0014892", + "UPHENO:0020584", + "BFO:0000001", + "UBERON:0010000", + "UBERON:0010707", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0000978", + "UBERON:0002529", + "UBERON:0007270", + "UBERON:0004480", + "HP:0000001", + "UPHENO:0002644", + "HP:0009127", + "UPHENO:0075195", + "UPHENO:0003070", + "UPHENO:0002830", + "BFO:0000040", + "UBERON:0001062", + "UBERON:0015212", + "UBERON:0007271", + "UBERON:0014792", + "UBERON:0003661", + "UBERON:0010890", + "HP:0011805", + "HP:0003712", "BFO:0000002", - "UPHENO:0051668", - "UPHENO:0046284", + "UPHENO:0002647", + "UBERON:0000061", + "UBERON:0004708", + "UBERON:0010709", + "UBERON:0003823", + "UBERON:0004466", + "UBERON:0004256", + "UPHENO:0001005", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "HP:0040064", + "PR:000050567", + "UBERON:0002101", + "UBERON:0004709", + "UBERON:0006067", + "UPHENO:0001001", + "UPHENO:0065599", + "UPHENO:0015280", "UPHENO:0002536", - "HP:0000001", - "HP:0011021", + "UPHENO:0076692", + "UBERON:0006058", + "UBERON:0010538", + "UBERON:0003663", + "UBERON:0014795", + "HP:0002981", + "UPHENO:0075777", + "HP:0008968", + "HP:0001437", "PATO:0000001", - "HP:0040081", - "UPHENO:0001003", - "UPHENO:0076289", - "UPHENO:0001005", - "UPHENO:0077821", - "UPHENO:0081547", - "UPHENO:0077826", - "HP:0032180", - "HP:0004364", + "UBERON:0000154", + "UBERON:0000026", + "UBERON:0010758", + "HP:0002814", "HP:0000118", - "UPHENO:0051801", - "UPHENO:0051612", - "UPHENO:0051804", - "HP:0001871", - "UPHENO:0004459", - "HP:0010876", - "UPHENO:0001002", + "UPHENO:0002816", + "UPHENO:0019778", + "UPHENO:0076710", + "BFO:0000004", + "UBERON:0000465", + "RO:0002577", + "UPHENO:0075696", + "HP:0001430", "BFO:0000020", - "UPHENO:0076286", - "HP:0001939", - "BFO:0000001", - "HP:0003236", + "UPHENO:0081581", + "UPHENO:0001072", + "UPHENO:0084489", + "BFO:0000002", + "UBERON:0001630", + "UBERON:0002103", + "UPHENO:0075952", + "UPHENO:0084715", + "UBERON:0000467", + "UBERON:0018254", + "UBERON:0005090", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0008784", + "UBERON:0002471", + "UBERON:0004482", + "UBERON:0001383", ], - "object_label": "Elevated circulating creatine kinase concentration", + "object_label": "Calf muscle hypertrophy (HPO)", "object_closure_label": [ - "abnormal independent continuant nitrogen molecular entity level", - "Abnormality of metabolism/homeostasis", - "abnormal blood protein polypeptide chain level", - "abnormal blood chemical entity level", - "abnormal independent continuant chemical entity level", "abnormal anatomical entity", - "abnormal multicellular organism chemical entity level", - "Phenotypic abnormality", - "Elevated circulating creatine kinase concentration", "Phenotypic abnormality", - "abnormal chemical entity level", - "phenotype", - "abnormal role blood level", - "entity", - "Abnormal circulating nitrogen compound concentration", - "abnormal phenotype by ontology source", - "Abnormality of blood and blood-forming tissues", - "Abnormal circulating creatine kinase concentration", + "abnormal anatomical entity morphology", + "abnormal muscle organ morphology", + "abnormal hindlimb zeugopod", + "Phenotypic abnormality (HPO)", + "Abnormality of the musculature (HPO)", + "abnormal anatomical entity", + "abnormal leg", + "material anatomical entity", + "system", + "limb", + "pelvic appendage", + "appendage girdle complex", + "posterior region of body", + "appendage", + "subdivision of organism along appendicular axis", + "Abnormality of the lower limb (HPO)", + "Abnormality of the musculature of the limbs (HPO)", + "specifically dependent continuant", + "Abnormality of the musculoskeletal system (HPO)", "phenotype by ontology source", + "hypertrophic multicellular anatomical structure", + "hindlimb muscle", + "pelvic appendage muscle", + "Abnormality of the calf (HPO)", + "abnormal anatomical entity morphology", + "continuant", + "anatomical structure", + "paired limb/fin", + "anatomical system", + "skeletal musculature", + "muscle structure", + "appendage musculature", + "musculature of pelvic complex", + "limb muscle", + "pelvic complex muscle", + "phenotype", + "Abnormal skeletal muscle morphology (HPO)", + "Skeletal muscle hypertrophy (HPO)", + "abnormally increased volume of anatomical entity", "quality", - "All", - "Abnormality of circulating enzyme level", + "independent continuant", + "multicellular anatomical structure", + "lower limb segment", + "zeugopod", + "musculature of lower limb", + "muscle of leg", + "Calf muscle hypertrophy (HPO)", + "hypertrophic pelvic complex muscle", + "increased size of the anatomical entity in independent continuant", + "abnormal size of anatomical entity", + "Abnormality of muscle size (HPO)", + "multi-limb segment region", + "paired limb/fin segment", + "hindlimb zeugopod", + "musculature of leg", + "hindlimb zeugopod muscle", + "Abnormality of the calf musculature (HPO)", + "abnormal musculature", + "entity", + "protein-containing material entity", + "multicellular organism", + "organ system subdivision", + "skeletal muscle organ, vertebrate", + "leg", + "limb segment", + "pelvic appendage musculature", + "musculature of limb", "continuant", - "abnormal hematopoietic system", - "abnormal independent continuant protein polypeptide chain level", - "abnormal role independent continuant level", - "specifically dependent continuant", - "Abnormal circulating protein concentration", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "Abnormal circulating metabolite concentration", + "Muscle hypertrophy of the lower extremities (HPO)", + "Abnormality of the musculature of the lower limbs (HPO)", + "material entity", + "anatomical entity", + "lateral structure", + "musculature of body", + "musculature", + "musculature of hindlimb zeugopod", + "All (HPO)", + "abnormal musculature of lower limb", + "abnormal phenotype by ontology source", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal multicellular organism morphology", + "increased size of the anatomical entity", + "Abnormality of limbs (HPO)", + "organism subdivision", + "organ", + "pelvic complex", + "abnormal hindlimb zeugopod muscle", + "abnormal muscle organ morphology", + "abnormal musculature of limb", + "abnormal limb", + "entity", + "muscle organ", + "hindlimb", ], "object_taxon": None, "object_taxon_label": None, @@ -515,18 +865,22 @@ def association_table(): "evidence_count": 3, "has_evidence": ["ECO:0000269"], "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", + "has_count": 5, + "has_total": 5, + "has_percentage": 100.0, + "has_quotient": 1.0, + "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:19576565", "PMID:28803818"], + "publications": ["PMID:8069911", "PMID:8538707"], "publications_links": [ - {"id": "PMID:19576565", "url": "http://identifiers.org/pubmed/19576565"}, - {"id": "PMID:28803818", "url": "http://identifiers.org/pubmed/28803818"}, + {"id": "PMID:8069911", "url": "http://identifiers.org/pubmed/8069911"}, + {"id": "PMID:8538707", "url": "http://identifiers.org/pubmed/8538707"}, ], - "frequency_qualifier": "HP:0040280", + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -542,11 +896,11 @@ def association_table(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Obligate", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040279", "HP:0040280"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Obligate"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -563,126 +917,293 @@ def association_table(): "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], "direction": "outgoing", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:cbe5576b-ca9d-11ee-a7f0-61df2fcac487", + "id": "uuid:9ac92a74-d820-11ee-baca-e629eea977b9", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009676", - "original_subject": "OMIM:253601", + "subject": "MONDO:0011968", + "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ + "MONDO:0006025", + "MONDO:0016333", "MONDO:0005071", + "MONDO:0005267", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0004994", + "MONDO:0700223", "BFO:0000002", + "MONDO:0005021", "BFO:0000016", - "BFO:0000001", - "MONDO:0006025", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0016145", "MONDO:0003847", - "MONDO:0700223", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0009676", - "MONDO:0000001", - "MONDO:0020121", - "MONDO:0016139", "MONDO:0003939", - "MONDO:0000429", - "MONDO:0020120", + "BFO:0000001", "MONDO:0015152", + "MONDO:0000001", + "MONDO:0005217", + "MONDO:0016141", + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0016140", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0000591", "MONDO:0016971", + "MONDO:0011968", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0000429", + "MONDO:0016139", + "MONDO:0700096", ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ - "autosomal genetic disease", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "disposition", - "muscle tissue disorder", + "autosomal genetic disease", + "familial cardiomyopathy", + "dilated cardiomyopathy", "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", - "qualitative or quantitative defects of dysferlin", + "heart disorder", + "hereditary skeletal muscle disorder", + "continuant", + "specifically dependent continuant", + "qualitative or quantitative defects of alpha-sarcoglycan", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "disease", + "realizable entity", + "disposition", + "muscular dystrophy", + "cardiovascular disorder", + "sarcoglycanopathy", + "familial dilated cardiomyopathy", "disease", + "autosomal recessive limb-girdle muscular dystrophy type 2D", + "intrinsic cardiomyopathy", "autosomal recessive disease", + "myopathy", + "entity", + "autosomal recessive limb-girdle muscular dystrophy", + "cardiomyopathy", "progressive muscular dystrophy", "musculoskeletal system disorder", - "autosomal recessive limb-girdle muscular dystrophy type 2B", - "autosomal recessive limb-girdle muscular dystrophy", - "disease", - "hereditary skeletal muscle disorder", - "human disease", "hereditary disease", - "continuant", - "skeletal muscle disorder", - "qualitative or quantitative protein defects in neuromuscular diseases", - "muscular dystrophy", - "specifically dependent continuant", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0003701", + "object": "HP:0003236", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "BFO:0000001", - "UPHENO:0002816", - "UPHENO:0002536", + "UPHENO:0001002", + "UBERON:0000468", + "UPHENO:0002332", + "HP:0002086", + "UBERON:0010000", + "GO:1990234", + "CHEBI:33839", + "CHEBI:33675", + "CHEBI:138675", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", "HP:0000001", - "UPHENO:0080555", - "PATO:0000001", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0075696", - "UPHENO:0001005", + "HP:0011021", + "UPHENO:0077825", + "HP:0012415", + "UPHENO:0051612", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "GO:1902494", + "CHEBI:36357", + "CHEBI:33579", "BFO:0000002", + "UPHENO:0004459", + "BFO:0000001", + "CHEBI:23367", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0000178", + "UBERON:0001004", + "GO:0061695", + "CHEBI:15841", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:16670", + "HP:0004364", "UPHENO:0082875", + "UPHENO:0001005", + "UPHENO:0046284", + "HP:0040081", + "UPHENO:0001003", + "BFO:0000015", + "BFO:0000004", + "UPHENO:0001001", + "UPHENO:0002536", + "GO:0008152", + "UPHENO:0077817", + "UPHENO:0076289", + "UPHENO:0002448", + "HP:0010876", + "UPHENO:0077820", + "HP:0500165", + "PATO:0000001", + "HP:0002795", + "UPHENO:0051763", "HP:0000118", - "HP:0003011", - "HP:0003701", - "UPHENO:0002332", - "UPHENO:0002320", - "UPHENO:0001002", - "HP:0001324", + "UPHENO:0077829", + "HP:0001939", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "GO:0005575", + "CHEBI:24431", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0075696", "BFO:0000020", - "UPHENO:0080556", - "HP:0011804", + "UPHENO:0076286", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0004536", + "UPHENO:0051668", + "HP:0001871", + "UPHENO:0077821", + "UPHENO:0051801", + "BFO:0000001", + "UBERON:0001062", + "GO:0032991", + "UBERON:0000467", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", ], - "object_label": "Proximal muscle weakness", + "object_label": "Elevated circulating creatine kinase concentration (HPO)", "object_closure_label": [ - "Proximal muscle weakness", - "entity", - "Abnormality of the musculature", "abnormal anatomical entity", - "abnormality of muscle organ physiology", - "Phenotypic abnormality", - "Abnormal muscle physiology", "Phenotypic abnormality", - "Muscle weakness", - "abnormal musculature", - "phenotype", - "decreased anatomical entity strength", "abnormality of anatomical entity physiology", - "abnormal phenotype by ontology source", - "continuant", - "decreased muscle organ strength", - "Abnormality of the musculoskeletal system", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration (HPO)", + "process", + "independent continuant", + "protein-containing complex", + "abnormal respiratory system", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality (HPO)", + "abnormal chemical entity level", + "abnormal anatomical entity", + "cellular_component", + "chemical entity", + "material anatomical entity", + "protein-containing material entity", + "transferase complex", + "macromolecule", + "p-block molecular entity", + "gas molecular entity", + "abnormal blood gas molecular entity level", + "specifically dependent continuant", + "Abnormal circulating creatine kinase concentration (HPO)", "phenotype by ontology source", + "entity", + "Elevated circulating creatine kinase concentration (HPO)", + "abnormal blood oxygen molecular entity level", + "abnormal role independent continuant level", + "abnormality of respiratory system physiology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the respiratory system (HPO)", + "occurrent", + "continuant", + "molecular entity", + "anatomical structure", + "organism substance", + "blood", + "anatomical system", + "mesoderm-derived structure", + "bodily fluid", + "phenotype", + "abnormal hematopoietic system", "quality", - "All", + "Abnormal respiratory system physiology (HPO)", + "multicellular anatomical structure", + "creatine kinase complex", + "protein polypeptide chain", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "carboxamide", + "organic amino compound", + "primary amide", + "metabolic process", + "peptide", + "Abnormal circulating nitrogen compound concentration (HPO)", "abnormality of anatomical entity physiology", - "abnormal anatomical entity", - "specifically dependent continuant", + "abnormal independent continuant oxygen molecular entity level", + "Abnormal circulating protein concentration (HPO)", + "abnormal independent continuant gas molecular entity level", + "multicellular organism", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "abnormal multicellular organism chemical entity level", + "continuant", + "Abnormal blood oxygen level (HPO)", + "entity", + "biological_process", + "material entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "respiratory system", + "All (HPO)", + "Abnormality of circulating enzyme level (HPO)", + "abnormal phenotype by ontology source", + "abnormal role blood level", + "anatomical entity", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis (HPO)", + "Abnormal blood gas level (HPO)", + "abnormal blood protein polypeptide chain level", + "abnormal blood chemical entity level", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid", ], "object_taxon": None, "object_taxon_label": None, @@ -693,18 +1214,22 @@ def association_table(): "evidence_count": 3, "has_evidence": ["ECO:0000269"], "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", + "has_count": 5, + "has_total": 5, + "has_percentage": 100.0, + "has_quotient": 1.0, + "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:9731527", "PMID:9009996"], + "publications": ["PMID:8069911", "PMID:8538707"], "publications_links": [ - {"id": "PMID:9731527", "url": "http://identifiers.org/pubmed/9731527"}, - {"id": "PMID:9009996", "url": "http://identifiers.org/pubmed/9009996"}, + {"id": "PMID:8069911", "url": "http://identifiers.org/pubmed/8069911"}, + {"id": "PMID:8538707", "url": "http://identifiers.org/pubmed/8538707"}, ], - "frequency_qualifier": "HP:0040280", + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -720,11 +1245,11 @@ def association_table(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Obligate", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040279", "HP:0040280"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Obligate"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -741,184 +1266,285 @@ def association_table(): "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], "direction": "outgoing", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:c7f2d9af-ca9d-11ee-a7f0-61df2fcac487", + "id": "uuid:9d945170-d820-11ee-baca-e629eea977b9", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0011968", - "original_subject": "OMIM:608099", + "subject": "MONDO:0012127", + "original_subject": "OMIM:608807", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0005071", - "MONDO:0011968", - "BFO:0000016", - "MONDO:0016333", - "MONDO:0004994", - "MONDO:0005267", + "MONDO:0012127", "MONDO:0006025", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", + "BFO:0000001", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0700223", "BFO:0000002", - "MONDO:0016141", - "MONDO:0005021", + "MONDO:0016191", + "BFO:0000016", "MONDO:0003847", - "MONDO:0016140", - "MONDO:0700223", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0000001", - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0005217", - "MONDO:0016139", "MONDO:0003939", - "MONDO:0000429", - "MONDO:0020120", - "MONDO:0000591", - "BFO:0000001", "MONDO:0015152", + "MONDO:0002320", + "MONDO:0000001", + "MONDO:0020121", + "MONDO:0100175", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", "MONDO:0016971", + "MONDO:0100493", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0000429", + "MONDO:0019952", + "MONDO:0016139", + "MONDO:0700096", ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2J", "subject_closure_label": [ - "autosomal genetic disease", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "familial cardiomyopathy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "disposition", - "familial dilated cardiomyopathy", - "muscle tissue disorder", + "autosomal genetic disease", "limb-girdle muscular dystrophy", + "autosomal recessive titinopathy", "nervous system disorder", - "myopathy", + "hereditary skeletal muscle disorder", + "specifically dependent continuant", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "disease", + "realizable entity", + "qualitative or quantitative defects of titin", + "disposition", + "autosomal recessive limb-girdle muscular dystrophy type 2J", + "muscular dystrophy", + "TTN-related myopathy", "disease", + "entity", + "continuant", "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", + "congenital nervous system disorder", "progressive muscular dystrophy", "musculoskeletal system disorder", - "entity", - "autosomal recessive limb-girdle muscular dystrophy", - "disease", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", - "human disease", - "qualitative or quantitative defects of alpha-sarcoglycan", - "dilated cardiomyopathy", + "congenital myopathy", "hereditary disease", - "cardiomyopathy", - "heart disorder", - "skeletal muscle disorder", - "qualitative or quantitative protein defects in neuromuscular diseases", - "muscular dystrophy", - "cardiovascular disorder", - "continuant", - "specifically dependent continuant", - "intrinsic cardiomyopathy", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0008981", + "object": "HP:0003236", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ + "UPHENO:0001002", + "UBERON:0000468", + "UPHENO:0002332", + "HP:0002086", + "UBERON:0010000", + "GO:1990234", + "CHEBI:33839", + "CHEBI:33675", + "CHEBI:138675", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", + "HP:0000001", + "HP:0011021", + "UPHENO:0077825", + "HP:0012415", + "UPHENO:0051612", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "GO:1902494", + "CHEBI:36357", + "CHEBI:33579", + "BFO:0000002", + "UPHENO:0004459", + "BFO:0000001", + "CHEBI:23367", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0000178", + "UBERON:0001004", + "GO:0061695", + "CHEBI:15841", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:16670", + "HP:0004364", + "UPHENO:0082875", + "UPHENO:0001005", + "UPHENO:0046284", + "HP:0040081", + "UPHENO:0001003", + "BFO:0000015", + "BFO:0000004", "UPHENO:0001001", - "UPHENO:0020584", - "HP:0008968", - "HP:0009127", - "UPHENO:0084763", - "UPHENO:0002816", "UPHENO:0002536", - "HP:0040064", - "HP:0000001", - "UPHENO:0002644", - "UPHENO:0075952", - "HP:0001430", - "UPHENO:0076692", + "GO:0008152", + "UPHENO:0077817", + "UPHENO:0076289", + "UPHENO:0002448", + "HP:0010876", + "UPHENO:0077820", + "HP:0500165", "PATO:0000001", - "UPHENO:0075195", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0003070", + "HP:0002795", + "UPHENO:0051763", + "HP:0000118", + "UPHENO:0077829", + "HP:0001939", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "GO:0005575", + "CHEBI:24431", + "UBERON:0000465", + "PR:000050567", "UPHENO:0075696", - "HP:0002981", + "BFO:0000020", + "UPHENO:0076286", + "HP:0003236", + "BFO:0000003", "BFO:0000002", - "HP:0030236", - "UPHENO:0084715", - "UPHENO:0084767", - "UPHENO:0076710", - "UPHENO:0065599", - "HP:0000118", - "HP:0003011", - "UPHENO:0015280", - "UPHENO:0002647", - "UPHENO:0002830", - "HP:0008981", - "UPHENO:0084535", - "UPHENO:0075777", - "HP:0011805", - "HP:0003712", - "HP:0001437", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0004536", + "UPHENO:0051668", + "HP:0001871", + "UPHENO:0077821", + "UPHENO:0051801", "BFO:0000001", - "HP:0002814", - "UPHENO:0001005", - "UPHENO:0001002", - "BFO:0000020", - "UPHENO:0001072", - "UPHENO:0084489", + "UBERON:0001062", + "GO:0032991", + "UBERON:0000467", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", ], - "object_label": "Calf muscle hypertrophy", + "object_label": "Elevated circulating creatine kinase concentration (HPO)", "object_closure_label": [ - "Calf muscle hypertrophy", - "hypertrophic pelvic complex muscle", - "abnormal hindlimb zeugopod muscle", - "Abnormal skeletal muscle morphology", - "Skeletal muscle hypertrophy", - "abnormal limb", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the musculature", "abnormal anatomical entity", - "abnormal musculature of limb", - "Abnormality of limbs", - "Abnormality of the lower limb", "Phenotypic abnormality", - "abnormal size of anatomical entity", - "Abnormality of the musculature of the lower limbs", - "hypertrophic multicellular anatomical structure", - "Phenotypic abnormality", - "abnormal musculature", - "abnormal anatomical entity morphology", - "phenotype", - "abnormal phenotype by ontology source", - "Abnormality of the calf musculature", - "increased size of the anatomical entity", - "Abnormality of muscle size", - "abnormally increased volume of anatomical entity", - "abnormal anatomical entity morphology in the pelvic complex", + "abnormality of anatomical entity physiology", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration (HPO)", + "process", + "independent continuant", + "protein-containing complex", + "abnormal respiratory system", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality (HPO)", + "abnormal chemical entity level", + "abnormal anatomical entity", + "cellular_component", + "chemical entity", + "material anatomical entity", + "protein-containing material entity", + "transferase complex", + "macromolecule", + "p-block molecular entity", + "gas molecular entity", + "abnormal blood gas molecular entity level", + "specifically dependent continuant", + "Abnormal circulating creatine kinase concentration (HPO)", + "phenotype by ontology source", "entity", + "Elevated circulating creatine kinase concentration (HPO)", + "abnormal blood oxygen molecular entity level", + "abnormal role independent continuant level", + "abnormality of respiratory system physiology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the respiratory system (HPO)", + "occurrent", "continuant", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "abnormal leg", + "molecular entity", + "anatomical structure", + "organism substance", + "blood", + "anatomical system", + "mesoderm-derived structure", + "bodily fluid", + "phenotype", + "abnormal hematopoietic system", "quality", - "All", - "abnormal musculature of lower limb", - "abnormal hindlimb zeugopod", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology", - "Muscle hypertrophy of the lower extremities", - "abnormal anatomical entity", - "Abnormality of the calf", - "increased size of the anatomical entity in independent continuant", - "specifically dependent continuant", - "abnormal muscle organ morphology", + "Abnormal respiratory system physiology (HPO)", + "multicellular anatomical structure", + "creatine kinase complex", + "protein polypeptide chain", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "carboxamide", + "organic amino compound", + "primary amide", + "metabolic process", + "peptide", + "Abnormal circulating nitrogen compound concentration (HPO)", + "abnormality of anatomical entity physiology", + "abnormal independent continuant oxygen molecular entity level", + "Abnormal circulating protein concentration (HPO)", + "abnormal independent continuant gas molecular entity level", + "multicellular organism", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "abnormal multicellular organism chemical entity level", + "continuant", + "Abnormal blood oxygen level (HPO)", + "entity", + "biological_process", + "material entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "respiratory system", + "All (HPO)", + "Abnormality of circulating enzyme level (HPO)", + "abnormal phenotype by ontology source", + "abnormal role blood level", + "anatomical entity", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis (HPO)", + "Abnormal blood gas level (HPO)", + "abnormal blood protein polypeptide chain level", + "abnormal blood chemical entity level", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid", ], "object_taxon": None, "object_taxon_label": None, @@ -929,18 +1555,22 @@ def association_table(): "evidence_count": 3, "has_evidence": ["ECO:0000269"], "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", + "has_count": 11, + "has_total": 11, + "has_percentage": 100.0, + "has_quotient": 1.0, + "grouping_key": "MONDO:0012127||biolink:has_phenotype|HP:0003236", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:8069911", "PMID:8538707"], + "publications": ["PMID:25772186", "OMIM:608807"], "publications_links": [ - {"id": "PMID:8069911", "url": "http://identifiers.org/pubmed/8069911"}, - {"id": "PMID:8538707", "url": "http://identifiers.org/pubmed/8538707"}, + {"id": "PMID:25772186", "url": "http://identifiers.org/pubmed/25772186"}, + {"id": "OMIM:608807", "url": "http://identifiers.org/mim/608807"}, ], - "frequency_qualifier": "HP:0040280", + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -956,11 +1586,11 @@ def association_table(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Obligate", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040279", "HP:0040280"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Obligate"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -977,6 +1607,9 @@ def association_table(): "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], "direction": "outgoing", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0], }, ], } diff --git a/backend/tests/fixtures/association_table_response.py b/backend/tests/fixtures/association_table_response.py index d7ea9e0f8..77eda9289 100644 --- a/backend/tests/fixtures/association_table_response.py +++ b/backend/tests/fixtures/association_table_response.py @@ -17,747 +17,1352 @@ def association_table_response(): "category:biolink\\:DiseaseToPhenotypicFeatureAssociation", 'subject:"MONDO\\:0020121" OR subject_closure:"MONDO\\:0020121" OR object:"MONDO\\:0020121" OR object_closure:"MONDO\\:0020121"', ], - "sort": "evidence_count desc, subject_label asc, predicate asc, object_label asc, primary_knowledge_source asc", + "sort": "frequency_computed_sortable_float desc, evidence_count desc, subject_label asc, predicate asc, object_label asc, primary_knowledge_source asc", "rows": "5", "facet": "true", }, }, "response": { - "num_found": 3875, + "num_found": 3873, "start": 0, "docs": [ { - "id": "uuid:cc29dff0-ca9d-11ee-a7f0-61df2fcac487", - "original_subject": "OMIM:164310", + "id": "uuid:9bf8349e-d820-11ee-baca-e629eea977b9", + "original_subject": "OMIM:612937", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "aggregator_knowledge_source": ["infores:monarchinitiative"], "primary_knowledge_source": "infores:hpo-annotations", + "publications": ["PMID:19576565", "PMID:28803818"], "provided_by": "hpoa_disease_to_phenotype_edges", "has_evidence": ["ECO:0000269"], - "publications": ["PMID:21242490", "PMID:32493488", "PMID:31332380"], - "frequency_qualifier": "HP:0040282", - "subject": "MONDO:0020793", - "object": "HP:0002460", - "subject_label": "oculopharyngodistal myopathy 1", + "has_count": 2, + "has_percentage": 100.0, + "has_quotient": 1.0, + "has_total": 2, + "subject": "MONDO:0013049", + "object": "HP:0003236", + "subject_label": "DPM3-congenital disorder of glycosylation", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ + "MONDO:0016333", + "BFO:0000001", "MONDO:0005071", + "MONDO:0005267", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0019052", + "MONDO:0005500", + "MONDO:0004994", + "MONDO:0700223", + "MONDO:0005021", + "MONDO:0018276", + "MONDO:0024322", "BFO:0000002", "BFO:0000016", - "BFO:0000001", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", "MONDO:0003847", - "MONDO:0700223", - "MONDO:0020793", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0018949", + "MONDO:0003939", + "MONDO:0002320", "MONDO:0000001", - "MONDO:0025193", + "MONDO:0005217", + "MONDO:0015286", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0020120", + "MONDO:0004995", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0000591", + "MONDO:0019950", + "MONDO:0005336", + "MONDO:0017749", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0005066", + "MONDO:0013049", + "MONDO:0700096", ], "subject_closure_label": [ - "oculopharyngodistal myopathy 1", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "disposition", - "muscle tissue disorder", + "DPM3-congenital disorder of glycosylation", + "familial cardiomyopathy", + "dilated cardiomyopathy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "disease", + "heart disorder", "hereditary skeletal muscle disorder", + "specifically dependent continuant", + "metabolic disease", "human disease", - "hereditary disease", - "continuant", - "skeletal muscle disorder", - "oculopharyngodistal myopathy", + "disease", + "inborn errors of metabolism", + "congenital disorder of glycosylation type I", + "disorder of glycosylation", + "realizable entity", + "disposition", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - "distal myopathy", + "cardiovascular disorder", + "familial dilated cardiomyopathy", + "disease", + "intrinsic cardiomyopathy", + "entity", + "continuant", + "myopathy", + "congenital nervous system disorder", + "cardiomyopathy", + "musculoskeletal system disorder", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy", + "disorder of multiple glycosylation", + "hereditary disease", + "muscle tissue disorder", ], - "object_label": "Distal muscle weakness", + "object_label": "Elevated circulating creatine kinase concentration (HPO)", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0001001", - "UPHENO:0002816", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0080555", - "PATO:0000001", "UPHENO:0001002", - "BFO:0000002", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0075696", - "UPHENO:0082875", - "HP:0000118", - "HP:0003011", + "UBERON:0000468", "UPHENO:0002332", - "HP:0002460", + "HP:0002086", + "UBERON:0010000", + "GO:1990234", + "CHEBI:33839", + "CHEBI:33675", + "CHEBI:138675", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", + "HP:0000001", + "HP:0011021", + "UPHENO:0077825", + "HP:0012415", + "UPHENO:0051612", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "GO:1902494", + "CHEBI:36357", + "CHEBI:33579", + "BFO:0000002", + "UPHENO:0004459", "BFO:0000001", - "UPHENO:0002320", + "CHEBI:23367", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0000178", + "UBERON:0001004", + "GO:0061695", + "CHEBI:15841", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:16670", + "HP:0004364", + "UPHENO:0082875", "UPHENO:0001005", - "HP:0001324", + "UPHENO:0046284", + "HP:0040081", + "UPHENO:0001003", + "BFO:0000015", + "BFO:0000004", + "UPHENO:0001001", + "UPHENO:0002536", + "GO:0008152", + "UPHENO:0077817", + "UPHENO:0076289", + "UPHENO:0002448", + "HP:0010876", + "UPHENO:0077820", + "HP:0500165", + "PATO:0000001", + "HP:0002795", + "UPHENO:0051763", + "HP:0000118", + "UPHENO:0077829", + "HP:0001939", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "GO:0005575", + "CHEBI:24431", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0075696", "BFO:0000020", - "UPHENO:0080556", - "HP:0011804", + "UPHENO:0076286", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0004536", + "UPHENO:0051668", + "HP:0001871", + "UPHENO:0077821", + "UPHENO:0051801", + "BFO:0000001", + "UBERON:0001062", + "GO:0032991", + "UBERON:0000467", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", ], "object_closure_label": [ - "Abnormality of the musculature", "abnormal anatomical entity", - "abnormality of muscle organ physiology", - "Phenotypic abnormality", - "Distal muscle weakness", - "Abnormal muscle physiology", - "Muscle weakness", - "abnormal musculature", - "phenotype", - "abnormal phenotype by ontology source", "Phenotypic abnormality", - "decreased anatomical entity strength", - "entity", "abnormality of anatomical entity physiology", - "decreased muscle organ strength", - "Abnormality of the musculoskeletal system", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration (HPO)", + "process", + "independent continuant", + "protein-containing complex", + "abnormal respiratory system", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality (HPO)", + "abnormal chemical entity level", + "abnormal anatomical entity", + "cellular_component", + "chemical entity", + "material anatomical entity", + "protein-containing material entity", + "transferase complex", + "macromolecule", + "p-block molecular entity", + "gas molecular entity", + "abnormal blood gas molecular entity level", + "specifically dependent continuant", + "Abnormal circulating creatine kinase concentration (HPO)", "phenotype by ontology source", + "entity", + "Elevated circulating creatine kinase concentration (HPO)", + "abnormal blood oxygen molecular entity level", + "abnormal role independent continuant level", + "abnormality of respiratory system physiology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the respiratory system (HPO)", + "occurrent", + "continuant", + "molecular entity", + "anatomical structure", + "organism substance", + "blood", + "anatomical system", + "mesoderm-derived structure", + "bodily fluid", + "phenotype", + "abnormal hematopoietic system", "quality", - "All", + "Abnormal respiratory system physiology (HPO)", + "multicellular anatomical structure", + "creatine kinase complex", + "protein polypeptide chain", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "carboxamide", + "organic amino compound", + "primary amide", + "metabolic process", + "peptide", + "Abnormal circulating nitrogen compound concentration (HPO)", "abnormality of anatomical entity physiology", - "abnormal anatomical entity", + "abnormal independent continuant oxygen molecular entity level", + "Abnormal circulating protein concentration (HPO)", + "abnormal independent continuant gas molecular entity level", + "multicellular organism", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "abnormal multicellular organism chemical entity level", "continuant", - "specifically dependent continuant", + "Abnormal blood oxygen level (HPO)", + "entity", + "biological_process", + "material entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "respiratory system", + "All (HPO)", + "Abnormality of circulating enzyme level (HPO)", + "abnormal phenotype by ontology source", + "abnormal role blood level", + "anatomical entity", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis (HPO)", + "Abnormal blood gas level (HPO)", + "abnormal blood protein polypeptide chain level", + "abnormal blood chemical entity level", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid", ], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], - "evidence_count": 4, - "grouping_key": "MONDO:0020793||biolink:has_phenotype|HP:0002460", + "evidence_count": 3, + "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:cc29e001-ca9d-11ee-a7f0-61df2fcac487", - "original_subject": "OMIM:164310", + "id": "uuid:9e32d674-d820-11ee-baca-e629eea977b9", + "original_subject": "OMIM:253601", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "aggregator_knowledge_source": ["infores:monarchinitiative"], "primary_knowledge_source": "infores:hpo-annotations", + "publications": ["PMID:9731527", "PMID:9009996"], "provided_by": "hpoa_disease_to_phenotype_edges", "has_evidence": ["ECO:0000269"], - "publications": ["PMID:21242490", "PMID:32493488", "PMID:31332380"], - "frequency_qualifier": "HP:0040282", - "subject": "MONDO:0020793", - "object": "HP:0002015", - "subject_label": "oculopharyngodistal myopathy 1", + "has_count": 32, + "has_percentage": 100.0, + "has_quotient": 1.0, + "has_total": 32, + "subject": "MONDO:0009676", + "object": "HP:0003701", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ + "MONDO:0006025", + "BFO:0000001", "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0700223", + "MONDO:0016145", "BFO:0000002", "BFO:0000016", - "BFO:0000001", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", "MONDO:0003847", - "MONDO:0700223", - "MONDO:0020793", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0018949", + "MONDO:0003939", + "MONDO:0015152", "MONDO:0000001", - "MONDO:0025193", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0020120", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0016971", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0000429", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0009676", ], "subject_closure_label": [ - "oculopharyngodistal myopathy 1", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "disposition", - "muscle tissue disorder", + "autosomal genetic disease", + "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", + "hereditary skeletal muscle disorder", + "specifically dependent continuant", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "disease", + "realizable entity", + "disposition", + "autosomal recessive limb-girdle muscular dystrophy type 2B", + "muscular dystrophy", "disease", + "entity", + "continuant", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", "progressive muscular dystrophy", "musculoskeletal system disorder", - "disease", - "hereditary skeletal muscle disorder", - "human disease", + "qualitative or quantitative defects of dysferlin", "hereditary disease", - "continuant", - "skeletal muscle disorder", - "oculopharyngodistal myopathy", - "muscular dystrophy", - "specifically dependent continuant", - "distal myopathy", + "muscle tissue disorder", ], - 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+ "UPHENO:0051763", "HP:0000118", - "HP:0003011", - "HP:0003701", - "UPHENO:0002332", - "UPHENO:0002320", - "UPHENO:0001002", - "HP:0001324", + "UPHENO:0077829", + "HP:0001939", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "GO:0005575", + "CHEBI:24431", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0075696", "BFO:0000020", - "UPHENO:0080556", - "HP:0011804", + "UPHENO:0076286", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0004536", + "UPHENO:0051668", + "HP:0001871", + "UPHENO:0077821", + "UPHENO:0051801", + "BFO:0000001", + "UBERON:0001062", + "GO:0032991", + "UBERON:0000467", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", ], "object_closure_label": [ - "Proximal muscle weakness", - "entity", - "Abnormality of the musculature", "abnormal anatomical entity", - "abnormality of muscle organ physiology", - "Phenotypic abnormality", - "Abnormal muscle physiology", "Phenotypic abnormality", - "Muscle weakness", - "abnormal musculature", - "phenotype", - "decreased anatomical entity strength", "abnormality of anatomical entity physiology", - "abnormal phenotype by ontology source", - "continuant", - "decreased muscle organ strength", - "Abnormality of the musculoskeletal system", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration (HPO)", + "process", + "independent continuant", + "protein-containing complex", + "abnormal respiratory system", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality (HPO)", + "abnormal chemical entity level", + "abnormal anatomical entity", + "cellular_component", + "chemical entity", + "material anatomical entity", + "protein-containing material entity", + "transferase complex", + "macromolecule", + "p-block molecular entity", + "gas molecular entity", + "abnormal blood gas molecular entity level", + "specifically dependent continuant", + "Abnormal circulating creatine kinase concentration (HPO)", "phenotype by ontology source", + "entity", + "Elevated circulating creatine kinase concentration (HPO)", + "abnormal blood oxygen molecular entity level", + "abnormal role independent continuant level", + "abnormality of respiratory system physiology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the respiratory system (HPO)", + "occurrent", + "continuant", + "molecular entity", + "anatomical structure", + "organism substance", + "blood", + "anatomical system", + "mesoderm-derived structure", + "bodily fluid", + "phenotype", + "abnormal hematopoietic system", "quality", - "All", + "Abnormal respiratory system physiology (HPO)", + "multicellular anatomical structure", + "creatine kinase complex", + "protein polypeptide chain", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "carboxamide", + "organic amino compound", + "primary amide", + "metabolic process", + "peptide", + "Abnormal circulating nitrogen compound concentration (HPO)", "abnormality of anatomical entity physiology", - "abnormal anatomical entity", - "specifically dependent continuant", + "abnormal independent continuant oxygen molecular entity level", + "Abnormal circulating protein concentration (HPO)", + "abnormal independent continuant gas molecular entity level", + "multicellular organism", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "abnormal multicellular organism chemical entity level", + "continuant", + "Abnormal blood oxygen level (HPO)", + "entity", + "biological_process", + "material entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "respiratory system", + "All (HPO)", + "Abnormality of circulating enzyme level (HPO)", + "abnormal phenotype by ontology source", + "abnormal role blood level", + "anatomical entity", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis (HPO)", + "Abnormal blood gas level (HPO)", + "abnormal blood protein polypeptide chain level", + "abnormal blood chemical entity level", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid", ], - "frequency_qualifier_label": "Obligate", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040279", "HP:0040280"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Obligate"], "evidence_count": 3, - "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", + "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:c7f2d9af-ca9d-11ee-a7f0-61df2fcac487", - "original_subject": "OMIM:608099", + "id": "uuid:9d945170-d820-11ee-baca-e629eea977b9", + "original_subject": "OMIM:608807", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "aggregator_knowledge_source": ["infores:monarchinitiative"], "primary_knowledge_source": "infores:hpo-annotations", + "publications": ["PMID:25772186", "OMIM:608807"], "provided_by": "hpoa_disease_to_phenotype_edges", "has_evidence": ["ECO:0000269"], - "publications": ["PMID:8069911", "PMID:8538707"], - "frequency_qualifier": "HP:0040280", - "subject": "MONDO:0011968", - "object": "HP:0008981", - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "has_count": 11, + "has_percentage": 100.0, + "has_quotient": 1.0, + "has_total": 11, + "subject": "MONDO:0012127", + "object": "HP:0003236", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2J", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ - "MONDO:0005071", - "MONDO:0011968", - "BFO:0000016", - "MONDO:0016333", - "MONDO:0004994", - "MONDO:0005267", + "MONDO:0012127", "MONDO:0006025", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", + "BFO:0000001", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0700223", "BFO:0000002", - "MONDO:0016141", - "MONDO:0005021", + "MONDO:0016191", + "BFO:0000016", "MONDO:0003847", - "MONDO:0016140", - "MONDO:0700223", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0000001", - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0005217", - "MONDO:0016139", "MONDO:0003939", - "MONDO:0000429", - "MONDO:0020120", - "MONDO:0000591", - "BFO:0000001", "MONDO:0015152", + "MONDO:0002320", + "MONDO:0000001", + "MONDO:0020121", + "MONDO:0100175", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", "MONDO:0016971", + "MONDO:0100493", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0000429", + "MONDO:0019952", + "MONDO:0016139", + "MONDO:0700096", ], "subject_closure_label": [ - "autosomal genetic disease", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "familial cardiomyopathy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "disposition", - "familial dilated cardiomyopathy", - "muscle tissue disorder", + "autosomal genetic disease", "limb-girdle muscular dystrophy", + "autosomal recessive titinopathy", "nervous system disorder", - "myopathy", + "hereditary skeletal muscle disorder", + "specifically dependent continuant", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "disease", + "realizable entity", + "qualitative or quantitative defects of titin", + "disposition", + "autosomal recessive limb-girdle muscular dystrophy type 2J", + "muscular dystrophy", + "TTN-related myopathy", "disease", + "entity", + "continuant", "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", + "congenital nervous system disorder", "progressive muscular dystrophy", "musculoskeletal system disorder", - "entity", - "autosomal recessive limb-girdle muscular dystrophy", - "disease", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", - "human disease", - "qualitative or quantitative defects of alpha-sarcoglycan", - "dilated cardiomyopathy", + "congenital myopathy", "hereditary disease", - "cardiomyopathy", - "heart disorder", - "skeletal muscle disorder", - "qualitative or quantitative protein defects in neuromuscular diseases", - "muscular dystrophy", - "cardiovascular disorder", - "continuant", - "specifically dependent continuant", - "intrinsic cardiomyopathy", + "muscle tissue disorder", ], - "object_label": "Calf muscle hypertrophy", + "object_label": "Elevated circulating creatine kinase concentration (HPO)", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ + "UPHENO:0001002", + "UBERON:0000468", + "UPHENO:0002332", + "HP:0002086", + "UBERON:0010000", + "GO:1990234", + "CHEBI:33839", + "CHEBI:33675", + "CHEBI:138675", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", + "HP:0000001", + "HP:0011021", + "UPHENO:0077825", + "HP:0012415", + "UPHENO:0051612", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "GO:1902494", + "CHEBI:36357", + "CHEBI:33579", + "BFO:0000002", + "UPHENO:0004459", + "BFO:0000001", + "CHEBI:23367", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0000178", + "UBERON:0001004", + "GO:0061695", + "CHEBI:15841", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:16670", + "HP:0004364", + "UPHENO:0082875", + "UPHENO:0001005", + "UPHENO:0046284", + "HP:0040081", + "UPHENO:0001003", + "BFO:0000015", + "BFO:0000004", "UPHENO:0001001", - "UPHENO:0020584", - "HP:0008968", - "HP:0009127", - "UPHENO:0084763", - "UPHENO:0002816", "UPHENO:0002536", - "HP:0040064", - "HP:0000001", - "UPHENO:0002644", - "UPHENO:0075952", - "HP:0001430", - "UPHENO:0076692", + "GO:0008152", + "UPHENO:0077817", + "UPHENO:0076289", + "UPHENO:0002448", + "HP:0010876", + "UPHENO:0077820", + "HP:0500165", "PATO:0000001", - "UPHENO:0075195", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0003070", + "HP:0002795", + "UPHENO:0051763", + "HP:0000118", + "UPHENO:0077829", + "HP:0001939", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "GO:0005575", + "CHEBI:24431", + "UBERON:0000465", + "PR:000050567", "UPHENO:0075696", - "HP:0002981", + "BFO:0000020", + "UPHENO:0076286", + "HP:0003236", + "BFO:0000003", "BFO:0000002", - "HP:0030236", - "UPHENO:0084715", - "UPHENO:0084767", - "UPHENO:0076710", - "UPHENO:0065599", - "HP:0000118", - "HP:0003011", - "UPHENO:0015280", - "UPHENO:0002647", - "UPHENO:0002830", - "HP:0008981", - "UPHENO:0084535", - "UPHENO:0075777", - "HP:0011805", - "HP:0003712", - "HP:0001437", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0004536", + "UPHENO:0051668", + "HP:0001871", + "UPHENO:0077821", + "UPHENO:0051801", "BFO:0000001", - "HP:0002814", - "UPHENO:0001005", - "UPHENO:0001002", - "BFO:0000020", - "UPHENO:0001072", - "UPHENO:0084489", + "UBERON:0001062", + "GO:0032991", + "UBERON:0000467", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", ], "object_closure_label": [ - "Calf muscle hypertrophy", - "hypertrophic pelvic complex muscle", - "abnormal hindlimb zeugopod muscle", - "Abnormal skeletal muscle morphology", - "Skeletal muscle hypertrophy", - "abnormal limb", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the musculature", "abnormal anatomical entity", - "abnormal musculature of limb", - "Abnormality of limbs", - "Abnormality of the lower limb", - "Phenotypic abnormality", - "abnormal size of anatomical entity", - "Abnormality of the musculature of the lower limbs", - "hypertrophic multicellular anatomical structure", "Phenotypic abnormality", - "abnormal musculature", - "abnormal anatomical entity morphology", - "phenotype", - "abnormal phenotype by ontology source", - "Abnormality of the calf musculature", - "increased size of the anatomical entity", - "Abnormality of muscle size", - "abnormally increased volume of anatomical entity", - "abnormal anatomical entity morphology in the pelvic complex", + "abnormality of anatomical entity physiology", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration (HPO)", + "process", + "independent continuant", + "protein-containing complex", + "abnormal respiratory system", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality (HPO)", + "abnormal chemical entity level", + "abnormal anatomical entity", + "cellular_component", + "chemical entity", + "material anatomical entity", + "protein-containing material entity", + "transferase complex", + "macromolecule", + "p-block molecular entity", + "gas molecular entity", + "abnormal blood gas molecular entity level", + "specifically dependent continuant", + "Abnormal circulating creatine kinase concentration (HPO)", + "phenotype by ontology source", "entity", + "Elevated circulating creatine kinase concentration (HPO)", + "abnormal blood oxygen molecular entity level", + "abnormal role independent continuant level", + "abnormality of respiratory system physiology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the respiratory system (HPO)", + "occurrent", "continuant", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "abnormal leg", + "molecular entity", + "anatomical structure", + "organism substance", + "blood", + "anatomical system", + "mesoderm-derived structure", + "bodily fluid", + "phenotype", + "abnormal hematopoietic system", "quality", - "All", - "abnormal musculature of lower limb", - "abnormal hindlimb zeugopod", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology", - "Muscle hypertrophy of the lower extremities", - "abnormal anatomical entity", - "Abnormality of the calf", - "increased size of the anatomical entity in independent continuant", - "specifically dependent continuant", - "abnormal muscle organ morphology", + "Abnormal respiratory system physiology (HPO)", + "multicellular anatomical structure", + "creatine kinase complex", + "protein polypeptide chain", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "carboxamide", + "organic amino compound", + "primary amide", + "metabolic process", + "peptide", + "Abnormal circulating nitrogen compound concentration (HPO)", + "abnormality of anatomical entity physiology", + "abnormal independent continuant oxygen molecular entity level", + "Abnormal circulating protein concentration (HPO)", + "abnormal independent continuant gas molecular entity level", + "multicellular organism", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "abnormal multicellular organism chemical entity level", + "continuant", + "Abnormal blood oxygen level (HPO)", + "entity", + "biological_process", + "material entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "respiratory system", + "All (HPO)", + "Abnormality of circulating enzyme level (HPO)", + "abnormal phenotype by ontology source", + "abnormal role blood level", + "anatomical entity", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis (HPO)", + "Abnormal blood gas level (HPO)", + "abnormal blood protein polypeptide chain level", + "abnormal blood chemical entity level", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid", ], - "frequency_qualifier_label": "Obligate", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040279", "HP:0040280"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Obligate"], "evidence_count": 3, - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", + "grouping_key": "MONDO:0012127||biolink:has_phenotype|HP:0003236", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0], }, ], }, diff --git a/backend/tests/fixtures/associations.py b/backend/tests/fixtures/associations.py index 422033e6d..eba68d3c5 100644 --- a/backend/tests/fixtures/associations.py +++ b/backend/tests/fixtures/associations.py @@ -6,182 +6,110 @@ def associations(): return { "limit": 20, "offset": 0, - "total": 4627, + "total": 4618, "items": [ { - "id": "uuid:d0e1e695-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4de7f552-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2933", + "original_subject": "NCBIGene:1760", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "DMPK", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0008056", + "original_object": "OMIM:160900", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0016107", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0008056", + "MONDO:0004994", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0024573", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", "MONDO:0000001", + "MONDO:0005217", + "MONDO:0016120", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0005045", + "MONDO:0004995", + "MONDO:0002254", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0000591", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0700096", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "myotonic dystrophy type 1", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "myotonic dystrophy type 1", + "familial cardiomyopathy", + "syndromic disease", + "myotonic dystrophy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", + "heart disorder", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "familial hypertrophic cardiomyopathy", + "disposition", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0001371", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "HP:0034392", - "UPHENO:0020584", - "UPHENO:0046505", - "UPHENO:0075696", - "UPHENO:0087888", - "UPHENO:0002816", - "UPHENO:0002536", - "UPHENO:0088186", - "UPHENO:0002712", - "HP:0000001", - "UPHENO:0076703", - "HP:0034430", - "HP:0000924", - "UPHENO:0076692", - "PATO:0000001", - "HP:0003549", - "BFO:0000002", - "UPHENO:0075195", - "HP:0033127", - "UPHENO:0001003", - "HP:0100261", - "UPHENO:0021425", - "UPHENO:0002332", - "UPHENO:0081440", - "UPHENO:0076710", - "HP:0011843", - "UPHENO:0082875", - "HP:0000118", - "HP:0003011", - "UPHENO:0015280", - "UPHENO:0002964", - "UPHENO:0012541", - "HP:0001371", - "HP:0011842", - "HP:0011805", - "UPHENO:0001002", - "UPHENO:0031839", - "BFO:0000001", - "UPHENO:0068971", - "HP:0011729", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0046759", - ], - "object_label": "Flexion contracture", - "object_closure_label": [ - "Flexion contracture", - "Abnormal skeletal morphology", - "Abnormal skeletal muscle morphology", - "Phenotypic abnormality", - "abnormal tendon morphology", - "abnormality of anatomical entity physiology", - "decreased length of tendon", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of anatomical entity", - "abnormal anatomical entity", - "abnormal tendon morphology", - "Abnormality of the musculature", - "abnormal anatomical entity", - "abnormal anatomical entity length", - "abnormal connective tissue", - "decreased size of the anatomical entity", - "Phenotypic abnormality", - "abnormal size of anatomical entity", - "decreased length of anatomical entity in independent continuant", - "Abnormality of connective tissue", - "abnormal musculature", - "abnormal anatomical entity morphology", - "phenotype", - "Abnormality of joint mobility", - "abnormal phenotype by ontology source", - "Abnormal joint physiology", - "Abnormality of the skeletal system", + "hypertrophic cardiomyopathy", + "cardiovascular disorder", + "disease", + "intrinsic cardiomyopathy", "entity", - "abnormality of anatomical entity physiology", - "Abnormal tendon morphology", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "abnormal skeletal system morphology", - "Joint contracture", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal anatomical entity morphology", - "continuant", - "specifically dependent continuant", - "abnormality of musculoskeletal system physiology", - "abnormal muscle organ morphology", - "Abnormal musculoskeletal physiology", + "myopathy", + "cardiomyopathy", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "myotonic syndrome", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0001371", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:2933||biolink:causes|MONDO:0008056", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040281", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -197,11 +125,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Very frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040281", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "Very frequent", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -219,141 +147,115 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e696-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ + "id": "uuid:4de9b8a6-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:22932", + "original_subject": "NCBIGene:29925", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "GMPPB", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014140", + "original_object": "OMIM:615350", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0014140", + "MONDO:0019052", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0016155", + "MONDO:0018276", + "MONDO:0045010", + "MONDO:0024322", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0002320", + "MONDO:0700084", + "MONDO:0018282", "MONDO:0000001", + "MONDO:0015286", "MONDO:0020121", - "MONDO:0003939", + "OGMS:0000031", + "BFO:0000017", "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0017741", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0005066", + "MONDO:0000171", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0018939", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14", + "disorder of protein O-glycosylation", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", + "metabolic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "inborn errors of metabolism", + "disorder of glycosylation", + "realizable entity", + "disposition", + "muscle-eye-brain disease", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0003458", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "HP:0003198", - "BFO:0000001", - "UPHENO:0002816", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0076692", - "HP:0033127", - "UPHENO:0001003", - "HP:0003458", - "UPHENO:0075696", - "BFO:0000002", - "HP:0003457", - "UPHENO:0076710", - "UPHENO:0082875", - "HP:0000118", - "HP:0003011", - "HP:0011805", - "UPHENO:0002332", - "UPHENO:0002320", - "UPHENO:0001005", - "UPHENO:0001002", - "BFO:0000020", - "HP:0011804", - "PATO:0000001", - ], - "object_label": "EMG: myopathic abnormalities", - "object_closure_label": [ - "Abnormal skeletal muscle morphology", - "EMG abnormality", + "myopathy caused by variation in GMPPB", + "qualitative or quantitative defects of alpha-dystroglycan", + "disease", + "myopathy", "entity", - "Abnormality of the musculature", - "abnormal anatomical entity", - "abnormality of muscle organ physiology", - "Phenotypic abnormality", - "Abnormal muscle physiology", - "quality", - "Phenotypic abnormality", - "abnormal musculature", - "abnormal anatomical entity morphology", - "phenotype", - "abnormal phenotype by ontology source", - "abnormality of anatomical entity physiology", - "continuant", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "EMG: myopathic abnormalities", - "All", - "abnormality of anatomical entity physiology", - "Myopathy", - "abnormal anatomical entity", - "specifically dependent continuant", - "abnormal muscle organ morphology", + "congenital nervous system disorder", + "musculoskeletal system disorder", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "muscular dystrophy-dystroglycanopathy, type A", + "hereditary disease", + "muscle tissue disorder", + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0003458", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:22932||biolink:causes|MONDO:0014140", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040281", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -369,11 +271,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Very frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040281", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "Very frequent", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -391,127 +293,113 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e697-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4de9c27e-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:22932", + "original_subject": "NCBIGene:29925", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "GMPPB", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014141", + "original_object": "OMIM:615351", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0014141", "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0019052", + "MONDO:0000172", "MONDO:0700223", + "MONDO:0016155", + "MONDO:0018276", + "MONDO:0045010", + "MONDO:0024322", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0002320", + "MONDO:0700084", + "MONDO:0018282", "MONDO:0000001", + "MONDO:0015286", "MONDO:0020121", - "MONDO:0003939", + "OGMS:0000031", + "BFO:0000017", "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0017741", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0005066", + "MONDO:0016139", + "MONDO:0700096", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "disorder of protein O-glycosylation", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", + "muscular dystrophy-dystroglycanopathy, type B", "hereditary skeletal muscle disorder", - "continuant", + "specifically dependent continuant", + "metabolic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "inborn errors of metabolism", + "disorder of glycosylation", + "realizable entity", + "disposition", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0003560", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0002816", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0076692", - "PATO:0000001", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0001005", - "BFO:0000002", - "UPHENO:0076710", - "HP:0000118", - "HP:0003011", - "HP:0011805", - "HP:0003560", - "BFO:0000001", - "UPHENO:0001002", - "BFO:0000020", - ], - "object_label": "Muscular dystrophy", - "object_closure_label": [ - "Abnormal skeletal muscle morphology", - "Muscular dystrophy", - "Abnormality of the musculature", - "abnormal anatomical entity", - "Phenotypic abnormality", - "Phenotypic abnormality", - "abnormal musculature", - "abnormal anatomical entity morphology", - "phenotype", + "myopathy caused by variation in GMPPB", + "qualitative or quantitative defects of alpha-dystroglycan", + "disease", "entity", - "abnormal phenotype by ontology source", "continuant", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "specifically dependent continuant", - "abnormal muscle organ morphology", + "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14", + "myopathy", + "congenital nervous system disorder", + "musculoskeletal system disorder", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "muscle tissue disorder", + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0003560", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:22932||biolink:causes|MONDO:0014141", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040281", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -527,11 +415,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Very frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040281", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "Very frequent", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -549,165 +437,123 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e699-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4de9c756-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:22932", + "original_subject": "NCBIGene:29925", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "GMPPB", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014142", + "original_object": "OMIM:615352", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "BFO:0000020", + "MONDO:0006025", "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0019052", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0016155", + "MONDO:0018276", + "MONDO:0045010", + "MONDO:0024322", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0015152", + "MONDO:0002320", + "MONDO:0700084", + "MONDO:0018282", "MONDO:0000001", + "MONDO:0015286", "MONDO:0020121", - "MONDO:0003939", + "OGMS:0000031", + "MONDO:0014142", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0000173", "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", - "BFO:0000020", - "MONDO:0700096", + "MONDO:0016971", + "MONDO:0017741", + "MONDO:0005336", "MONDO:0002081", + "MONDO:0005066", + "MONDO:0000429", + "MONDO:0016139", + "MONDO:0700096", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2T", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "autosomal genetic disease", + "limb-girdle muscular dystrophy", + "disorder of protein O-glycosylation", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "metabolic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "inborn errors of metabolism", + "disorder of glycosylation", + "realizable entity", + "disposition", + "muscular dystrophy-dystroglycanopathy, type C", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0030095", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0051763", - "UPHENO:0051936", - "HP:0025354", - "UPHENO:0082870", - "BFO:0000001", - "UPHENO:0051668", - "UPHENO:0077816", - "UPHENO:0087047", - "UPHENO:0046284", - "UPHENO:0002816", - "UPHENO:0002536", - "HP:0000001", - "HP:0004303", - "UPHENO:0076692", - "PATO:0000001", - "BFO:0000002", - "HP:0033127", - "UPHENO:0001003", - "HP:0030095", - "UPHENO:0052002", - "UPHENO:0076289", - "UPHENO:0077821", - "HP:0030089", - "UPHENO:0051587", - "UPHENO:0088180", - "UPHENO:0076710", - "UPHENO:0086172", - "HP:0000118", - "HP:0003011", - "HP:0011805", - "UPHENO:0001005", - "UPHENO:0001002", - "BFO:0000020", - "UPHENO:0077823", - "UPHENO:0051680", - "UPHENO:0046362", - ], - "object_label": "Reduced muscle collagen VI", - "object_closure_label": [ - "Abnormal skeletal muscle morphology", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormal muscle fiber protein expression", - "abnormal muscle organ chemical entity level", - "abnormal skeletal muscle fiber protein level", + "myopathy caused by variation in GMPPB", + "qualitative or quantitative defects of alpha-dystroglycan", + "disease", "entity", - "abnormal independent continuant chemical entity level", - "abnormal skeletal muscle fiber chemical entity level", - "abnormal skeletal muscle tissue morphology", - "Abnormality of the musculature", - "abnormal cell chemical entity level", - "abnormal anatomical entity", - "abnormal multicellular organism chemical entity level", - "Phenotypic abnormality", - "abnormal independent continuant protein level", - "abnormal protein level", - "Phenotypic abnormality", - "abnormal chemical entity level", - "abnormal musculature", - "abnormal anatomical entity morphology", - "abnormal tissue chemical entity level", - "phenotype", - "abnormal phenotype by ontology source", - "abnormal cell of skeletal muscle morphology", - "abnormal cell", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "Reduced muscle collagen VI", - "quality", - "All", - "Abnormal muscle fiber morphology", - "abnormal independent continuant protein level", - "Abnormal cellular phenotype", - "abnormal role independent continuant level", - "continuant", "specifically dependent continuant", - "abnormal muscle organ morphology", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", + "congenital nervous system disorder", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "autosomal recessive limb-girdle muscular dystrophy type 2T", + "hereditary disease", + "muscle tissue disorder", + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0030095", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:22932||biolink:causes|MONDO:0014142", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040281", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -723,11 +569,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Very frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040281", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "Very frequent", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -745,271 +591,93 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e69b-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ + "id": "uuid:4dea33a8-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:3756", + "original_subject": "NCBIGene:2318", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "FLNC", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0013550", + "original_object": "OMIM:614065", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "BFO:0000001", "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0700223", + "BFO:0000002", "BFO:0000016", - "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", "MONDO:0003847", - "MONDO:0700223", - "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0003939", "MONDO:0000001", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0013550", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016108", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0000429", + "MONDO:0700096", + "MONDO:0000426", + "MONDO:0018949", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "distal myopathy with posterior leg and anterior hand involvement", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "autosomal genetic disease", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "distal myopathy with posterior leg and anterior hand involvement", + "disease", + "realizable entity", + "disposition", + "autosomal dominant disease", + "autosomal dominant distal myopathy", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0001220", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "HP:0034681", - "HP:0034392", - "HP:0002813", - "UPHENO:0076727", - "UPHENO:0020584", - "BFO:0000001", - "UPHENO:0046505", - "UPHENO:0087888", - "HP:0012785", - "UPHENO:0084763", - "HP:0005922", - "UPHENO:0081942", - "UPHENO:0002816", - "UPHENO:0081920", - "UPHENO:0002536", - "UPHENO:0088186", - "UPHENO:0002712", - "HP:0040064", - "HP:0000001", - "UPHENO:0076703", - "HP:0001167", - "UPHENO:0076723", - "UPHENO:0002905", - "HP:0034430", - "HP:0000924", - "UPHENO:0002708", - "HP:0001367", - "UPHENO:0076692", - "UPHENO:0084761", - "HP:0011297", - "PATO:0000001", - "UPHENO:0001001", - "HP:0003549", - "BFO:0000002", - "UPHENO:0075195", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0081916", - "HP:0100360", - "HP:0009810", - "HP:0040068", - "UPHENO:0076767", - "HP:0001220", - "UPHENO:0075696", - "UPHENO:0076740", - "UPHENO:0086633", - "HP:0100261", - "HP:0002817", - "UPHENO:0021425", - "UPHENO:0002896", - "UPHENO:0081937", - "UPHENO:0081950", - "UPHENO:0084448", - "HP:0011844", - "UPHENO:0081440", - "HP:0030044", - "UPHENO:0086635", - "UPHENO:0081941", - "UPHENO:0076710", - "UPHENO:0086700", - "UPHENO:0079876", - "UPHENO:0081949", - "HP:0011843", - "UPHENO:0079870", - "UPHENO:0081936", - "HP:0009473", - "UPHENO:0082875", - "UPHENO:0016527", - "HP:0000118", - "HP:0003011", - "UPHENO:0015280", - "UPHENO:0002964", - "HP:0003121", - "UPHENO:0002880", - "UPHENO:0002830", - "UPHENO:0012541", - "UPHENO:0084766", - "HP:0001371", - "UPHENO:0087006", - "HP:0001155", - "HP:0011842", - "HP:0011805", - "UPHENO:0002332", - "UPHENO:0031839", - "UPHENO:0068971", - "HP:0011729", - "UPHENO:0001005", - "UPHENO:0001002", - "BFO:0000020", - "UPHENO:0046759", - ], - "object_label": "Interphalangeal joint contracture of finger", - "object_closure_label": [ - "abnormal manual digit morphology in the independent continuant", - "Flexion contracture", - "abnormal autopod region morphology", - "Abnormality of the hand", - "Abnormal skeletal morphology", - "Abnormal skeletal muscle morphology", - "Abnormality of the upper limb", - "abnormal tendon morphology", - "abnormal limb bone", - "decreased length of tendon", + "distal myopathy", + "disease", "entity", - "abnormal arm", - "abnormal limb", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of anatomical entity", - "abnormal tendon morphology", - "Flexion contracture of finger", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal hand morphology", - "Abnormality of the musculature", - "decreased length of anatomical entity attached to independent continuant", - "abnormal anatomical entity", - "abnormal anatomical entity length", - "abnormal connective tissue", - "Abnormality of limbs", - "decreased size of the anatomical entity", - "Finger joint contracture", - "abnormal skeletal joint morphology in the independent continuant", - "Phenotypic abnormality", - "abnormal size of anatomical entity", - "decreased length of anatomical entity in independent continuant", - "phenotype", - "Abnormality of connective tissue", - "Phenotypic abnormality", - "decreased length of tendon attached to digit", - "abnormal musculature", - "abnormal anatomical entity morphology", - "abnormal manual digit morphology in the manus", - "Abnormal digit morphology", - "Abnormality of limb bone", - "abnormal skeletal joint morphology", - "Interphalangeal joint contracture of finger", - "Abnormality of joint mobility", - "abnormal phenotype by ontology source", - "abnormal manus morphology", - "abnormal digit", - "Abnormal joint physiology", - "Abnormality of the skeletal system", - "abnormal manus", - "Abnormal joint morphology", - "decreased length of tendon attached to independent continuant", - "decreased length of anatomical entity attached to manual digit", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "abnormal skeletal joint morphology in the pectoral complex", - "decreased length of anatomical entity attached to forelimb joint", - "Joint contracture of the hand", - "abnormality of anatomical entity physiology", - "abnormal forelimb morphology", - "Abnormal tendon morphology", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "decreased length of tendon attached to forelimb joint", - "Upper-limb joint contracture", - "Abnormality of upper limb joint", - "quality", - "All", - "abnormal skeletal system morphology", - "Abnormal finger morphology", - "Joint contracture", - "Abnormality of limb bone morphology", - "abnormality of anatomical entity physiology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal limb bone morphology", - "abnormal anatomical entity morphology", - "Limb joint contracture", - "abnormal anatomical entity", - "abnormal appendicular skeleton morphology", - "continuant", - "specifically dependent continuant", - "abnormality of musculoskeletal system physiology", - "Flexion contracture of digit", - "abnormal limb morphology", - "decreased length of tendon attached to manual digit", - "abnormal muscle organ morphology", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased length of anatomical entity attached to digit", - "Abnormal musculoskeletal physiology", + "myopathy", + "musculoskeletal system disorder", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0001220", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:3756||biolink:causes|MONDO:0013550", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040282", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -1025,11 +693,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -1047,153 +715,87 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e69d-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4dea895c-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:11122", + "original_subject": "NCBIGene:23676", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "SMPX", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0024771", + "original_object": "OMIM:301075", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0024771", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", "MONDO:0000001", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0700096", + "MONDO:0018949", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "myopathy, distal, 7, adult-onset, X-linked", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "myopathy, distal, 7, adult-onset, X-linked", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "disposition", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0001288", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0049622", - "BFO:0000001", - "UPHENO:0001005", - "UPHENO:0002433", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0080585", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0075696", - "UPHENO:0078622", - "UPHENO:0049586", - "UPHENO:0002332", - "UPHENO:0050606", - "HP:0001288", - "UPHENO:0079833", - "UPHENO:0082875", - "HP:0100022", - "HP:0000118", - "UPHENO:0050613", - "HP:0011446", - "HP:0012638", - "HP:0000707", - "UPHENO:0079826", - "UPHENO:0004523", - "BFO:0000020", - "HP:0000708", - "UPHENO:0049587", - ], - "object_label": "Gait disturbance", - "object_closure_label": [ - "abnormality of anatomical entity physiology", - "abnormal voluntary musculoskeletal movement", - "Atypical behavior", + "distal myopathy", + "disease", "entity", - "Abnormal nervous system physiology", - "abnormal phenotype by ontology source", - "abnormal musculoskeletal movement", - "abnormal anatomical entity", - "abnormal behavior", - "Phenotypic abnormality", - "abnormal behavior process", - "abnormal nervous system", - "abnormality of nervous system physiology", - "phenotype", - "Phenotypic abnormality", - "Gait disturbance", - "abnormal biological_process", - "abnormality of anatomical entity physiology", - "phenotype by ontology source", - "quality", - "All", - "abnormal behavior process", - "abnormal anatomical entity", - "abnormal voluntary movement behavior", - "abnormal response to stimulus", - "Abnormality of movement", - "continuant", - "specifically dependent continuant", - "Abnormality of the nervous system", - "Abnormality of mental function", - "abnormal voluntary movement behavior", + "myopathy", + "musculoskeletal system disorder", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0001288", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:11122||biolink:causes|MONDO:0024771", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040282", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -1209,11 +811,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -1231,167 +833,103 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e69e-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ + "id": "uuid:4debf684-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:691", + "original_subject": "NCBIGene:401", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "PHOX2A", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0011181", + "original_object": "OMIM:602078", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0003569", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0000001", - "MONDO:0020121", + "BFO:0000016", + "MONDO:0003847", "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", + "BFO:0000001", "MONDO:0002320", + "MONDO:0000001", + "MONDO:0004746", + "MONDO:0020121", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0011181", + "MONDO:0016106", + "MONDO:0001584", + "MONDO:0024458", + "MONDO:0007614", + "MONDO:0005336", + "MONDO:0002022", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0000462", + "MONDO:0700096", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "fibrosis of extraocular muscles, congenital, 2", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "cranial nerve neuropathy", + "disorder of orbital region", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", + "eye adnexa disorder", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "fibrosis of extraocular muscles, congenital, 2", + "disposition", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0002355", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0049622", - "UPHENO:0002433", - "UPHENO:0002816", - "UPHENO:0002536", - "UPHENO:0049587", - "HP:0000001", - "UPHENO:0080585", - "PATO:0000001", - "HP:0033127", - "UPHENO:0001003", - "HP:0002355", - "UPHENO:0075696", - "UPHENO:0078622", - "UPHENO:0049586", - "UPHENO:0001005", - "BFO:0000002", - "UPHENO:0002332", - "UPHENO:0050606", - "HP:0001288", - "UPHENO:0079833", - "UPHENO:0082875", - "HP:0100022", - "HP:0000118", - "HP:0003011", - "UPHENO:0050613", - "HP:0011446", - "HP:0012638", - "HP:0000707", - "UPHENO:0079826", - "UPHENO:0004523", - "BFO:0000001", - "UPHENO:0002320", - "UPHENO:0001002", - "HP:0004302", - "BFO:0000020", - "HP:0000708", - "HP:0011804", - ], - "object_label": "Difficulty walking", - "object_closure_label": [ - "abnormality of anatomical entity physiology", - "abnormal voluntary musculoskeletal movement", - "Atypical behavior", - "Abnormal nervous system physiology", - "Abnormality of the musculature", - "abnormal musculoskeletal movement", - "abnormal anatomical entity", - "abnormal biological_process", - "abnormality of muscle organ physiology", - "abnormal behavior", - "Phenotypic abnormality", - "abnormal behavior process", - "abnormal nervous system", - "Abnormal muscle physiology", - "Phenotypic abnormality", - "Functional motor deficit", - "abnormality of nervous system physiology", - "abnormal musculature", - "phenotype", - "Gait disturbance", + "disease", + "ocular motility disease", + "disorder of visual system", + "congenital fibrosis of extraocular muscles", + "myopathy", "entity", - "abnormality of anatomical entity physiology", - "abnormal phenotype by ontology source", - "continuant", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "Difficulty walking", - "quality", - "All", - "abnormal behavior process", - "abnormal anatomical entity", - "abnormal voluntary movement behavior", - "abnormal response to stimulus", - "Abnormality of movement", - "specifically dependent continuant", - "Abnormality of the nervous system", - "Abnormality of mental function", - "abnormal voluntary movement behavior", + "congenital nervous system disorder", + "myopathy of extraocular muscle", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002355", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:691||biolink:causes|MONDO:0011181", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040282", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -1407,11 +945,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -1429,137 +967,105 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e69f-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ + "id": "uuid:4ded74dc-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15999", + "original_subject": "NCBIGene:57190", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "SELENON", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0011271", + "original_object": "OMIM:602771", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0020120", + "MONDO:0011271", + "MONDO:0019056", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0016187", + "MONDO:0100100", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0002320", "MONDO:0000001", "MONDO:0020121", - "MONDO:0003939", + "OGMS:0000031", + "BFO:0000017", "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0016186", + "MONDO:0018948", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0016197", + "MONDO:0019952", + "MONDO:0019951", + "MONDO:0016139", + "MONDO:0700096", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "rigid spine muscular dystrophy 1", + "object_closure_label": [ + "skeletal muscle disorder", + "rigid spine muscular dystrophy 1", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "qualitative or quantitative defects of selenoprotein N1", + "qualitative or quantitative defects of myofibrillar proteins", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", - "continuant", + "specifically dependent continuant", + "rigid spine syndrome", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "disposition", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0002460", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0002816", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0080555", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000002", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0075696", - "UPHENO:0082875", - "HP:0000118", - "HP:0003011", - "UPHENO:0002332", - "HP:0002460", - "BFO:0000001", - "UPHENO:0002320", - "UPHENO:0001005", - "HP:0001324", - "BFO:0000020", - "UPHENO:0080556", - "HP:0011804", - ], - "object_label": "Distal muscle weakness", - "object_closure_label": [ - "Abnormality of the musculature", - "abnormal anatomical entity", - "abnormality of muscle organ physiology", - "Phenotypic abnormality", - "Distal muscle weakness", - "Abnormal muscle physiology", - "Muscle weakness", - "abnormal musculature", - "phenotype", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "decreased anatomical entity strength", - "entity", - "abnormality of anatomical entity physiology", - "decreased muscle organ strength", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "abnormality of anatomical entity physiology", - "abnormal anatomical entity", + "disease", + "multiminicore myopathy", "continuant", - "specifically dependent continuant", + "myopathy", + "entity", + "congenital nervous system disorder", + "musculoskeletal system disorder", + "congenital myopathy", + "hereditary disease", + "qualitative or quantitative defects of desmin", + "SELENON-related myopathy", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002460", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:15999||biolink:causes|MONDO:0011271", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040282", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -1575,11 +1081,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -1597,151 +1103,95 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6a2-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ + "id": "uuid:4dedf984-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:29456", + "original_subject": "NCBIGene:26092", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "TOR1AIP1", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014900", + "original_object": "OMIM:617072", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0006025", "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0700223", + "BFO:0000002", "BFO:0000016", - "BFO:0000001", - "MONDO:0008029", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0015152", + "MONDO:0000001", + "MONDO:0014900", + "MONDO:0020121", + "OGMS:0000031", + "BFO:0000017", "MONDO:0016106", + "MONDO:0016971", "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", - "MONDO:0700223", - "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0000001", - "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0000429", + "MONDO:0700096", + "BFO:0000001", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2Y", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", + "autosomal genetic disease", + "limb-girdle muscular dystrophy", + "nervous system disorder", + "hereditary skeletal muscle disorder", + "continuant", + "specifically dependent continuant", "entity", - "congenital muscular dystrophy", + "human disease", + "disease", + "realizable entity", "disposition", - "muscle tissue disorder", - "nervous system disorder", - "myopathy", + "muscular dystrophy", "disease", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", "progressive muscular dystrophy", "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", - "hereditary skeletal muscle disorder", - "continuant", - "human disease", + "autosomal recessive limb-girdle muscular dystrophy type 2Y", "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", - "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0003325", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "HP:0009127", - "UPHENO:0002816", - "UPHENO:0002536", - "HP:0040064", - "HP:0000001", - "UPHENO:0080555", - "UPHENO:0076692", - "BFO:0000002", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0075696", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0076710", - "UPHENO:0082875", - "HP:0000118", - "HP:0003011", - "UPHENO:0002647", - "UPHENO:0002830", - "HP:0011805", - "UPHENO:0002332", - "BFO:0000001", - "UPHENO:0002320", - "HP:0003325", - "UPHENO:0001002", - "HP:0001324", - "UPHENO:0080556", - "HP:0011804", - "PATO:0000001", - ], - "object_label": "Limb-girdle muscle weakness", - "object_closure_label": [ - "Abnormal skeletal muscle morphology", - "specifically dependent continuant", - "abnormal limb", - "Abnormality of the musculature of the limbs", - "Abnormality of the musculature", - "abnormal anatomical entity", - "abnormal musculature of limb", - "Abnormality of limbs", - "abnormality of muscle organ physiology", - "Phenotypic abnormality", - "Abnormal muscle physiology", - "quality", - "Phenotypic abnormality", - "Muscle weakness", - "abnormal musculature", - "abnormal anatomical entity morphology", - "phenotype", - "Limb-girdle muscle weakness", - "decreased anatomical entity strength", - "entity", - "abnormality of anatomical entity physiology", - "abnormal phenotype by ontology source", - "decreased muscle organ strength", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "All", - "abnormality of anatomical entity physiology", - "abnormal anatomical entity", - "continuant", - "abnormal muscle organ morphology", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0003325", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:29456||biolink:causes|MONDO:0014900", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040282", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -1757,11 +1207,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -1779,173 +1229,85 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6a3-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ + "id": "uuid:4def63be-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2928", + "original_subject": "NCBIGene:1756", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "DMD", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0010311", + "original_object": "OMIM:300376", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", "MONDO:0000001", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0010311", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "Becker muscular dystrophy", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", - "continuant", - "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", - "muscular dystrophy", "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0003731", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0080566", - "BFO:0000001", - "HP:0009127", - "HP:0008994", - "UPHENO:0002816", - "UPHENO:0002536", - "HP:0040064", - "HP:0000001", - "UPHENO:0002644", - "HP:0003690", - "UPHENO:0080555", - "UPHENO:0076692", - "PATO:0000001", - "UPHENO:0001001", - "UPHENO:0001002", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0003070", - "UPHENO:0075696", - "UPHENO:0080575", - "UPHENO:0080557", - "UPHENO:0076710", - "HP:0007340", - "UPHENO:0082875", - "HP:0000118", - "BFO:0000002", - "HP:0003011", - "UPHENO:0002647", - "UPHENO:0002830", - "HP:0003701", - "HP:0011805", - "UPHENO:0002332", - "HP:0001437", - "HP:0003731", - "UPHENO:0002320", - "HP:0002814", - "UPHENO:0001005", - "HP:0001324", - "BFO:0000020", - "UPHENO:0080556", - "HP:0011804", - ], - "object_label": "Quadriceps muscle weakness", - "object_closure_label": [ - "Proximal muscle weakness", - "Abnormal skeletal muscle morphology", "entity", - "abnormal limb", - "Abnormality of the musculature of the limbs", - "Abnormality of the musculature", - "abnormal anatomical entity", - "abnormal musculature of limb", - "Abnormality of limbs", - "abnormality of muscle organ physiology", - "Abnormality of the lower limb", - "Phenotypic abnormality", + "human disease", + "disease", + "realizable entity", + "disposition", + "muscular dystrophy", + "Becker muscular dystrophy", + "disease", "continuant", - "Abnormality of the musculature of the lower limbs", - "Quadriceps muscle weakness", - "Abnormal muscle physiology", - "phenotype", - "Muscle weakness", - "Proximal muscle weakness in lower limbs", - "abnormal musculature", - "abnormal anatomical entity morphology", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "decreased anatomical entity strength", - "Limb muscle weakness", - "Lower limb muscle weakness", - "abnormality of anatomical entity physiology", - "decreased muscle organ strength", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "abnormal leg", - "quality", - "All", - "abnormal musculature of lower limb", - "decreased quadriceps femoris strength", - "abnormality of anatomical entity physiology", - "abnormal anatomical entity", - "decreased pelvic complex muscle strength", - "specifically dependent continuant", - "decreased hindlimb muscle strength", - "abnormal muscle organ morphology", + "myopathy", + "musculoskeletal system disorder", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0003731", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:2928||biolink:causes|MONDO:0010311", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040282", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -1961,11 +1323,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -1983,223 +1345,107 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6a4-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4defb85a-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:12403", + "original_subject": "NCBIGene:7273", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "TTN", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0012127", + "original_object": "OMIM:608807", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0012127", + "MONDO:0006025", "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0000001", - "MONDO:0020121", + "MONDO:0016191", + "BFO:0000016", + "MONDO:0003847", "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", + "MONDO:0015152", "MONDO:0002320", + "MONDO:0000001", + "MONDO:0020121", + "MONDO:0100175", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0016971", + "MONDO:0100493", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0000429", + "MONDO:0019952", + "MONDO:0016139", + "MONDO:0700096", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2J", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "autosomal genetic disease", + "limb-girdle muscular dystrophy", + "autosomal recessive titinopathy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", - "continuant", + "specifically dependent continuant", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "qualitative or quantitative defects of titin", + "disposition", + "autosomal recessive limb-girdle muscular dystrophy type 2J", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0006466", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "HP:0034392", - "HP:0003028", - "UPHENO:0020584", - "BFO:0000001", - "HP:0034673", - "UPHENO:0046505", - "UPHENO:0088165", - "UPHENO:0087888", - "HP:0005750", - "UPHENO:0002816", - "UPHENO:0002536", - "UPHENO:0088186", - "UPHENO:0002712", - "HP:0040064", - "HP:0000001", - "UPHENO:0076703", - "HP:0034430", - "HP:0000924", - "HP:0008366", - "HP:0001367", - "UPHENO:0081575", - "UPHENO:0076692", - "PATO:0000001", - "HP:0003549", - "UPHENO:0001002", - "BFO:0000002", - "UPHENO:0075195", - "HP:0100491", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0003070", - "HP:0006466", - "UPHENO:0076767", - "UPHENO:0075696", - "UPHENO:0086628", - "HP:0100261", - "UPHENO:0001005", - "UPHENO:0021425", - "UPHENO:0002332", - "UPHENO:0081440", - "UPHENO:0086635", - "UPHENO:0076710", - "HP:0011843", - "UPHENO:0082875", - "HP:0034677", - "HP:0000118", - "HP:0003011", - "UPHENO:0015280", - "UPHENO:0002964", - "HP:0003121", - "UPHENO:0002830", - "UPHENO:0012541", - "HP:0001371", - "UPHENO:0087006", - "HP:0011842", - "HP:0011805", - "UPHENO:0031839", - "HP:0002814", - "UPHENO:0068971", - "HP:0011729", - "BFO:0000020", - "UPHENO:0002707", - "UPHENO:0075945", - "HP:0001760", - "UPHENO:0046759", - ], - "object_label": "Ankle flexion contracture", - "object_closure_label": [ - "Flexion contracture", - "abnormal autopod region morphology", - "Abnormal skeletal morphology", - "Abnormal skeletal muscle morphology", - "abnormal tendon morphology", - "abnormality of anatomical entity physiology", - "abnormal hindlimb joint", - "Abnormal foot morphology", - "decreased length of tendon", + "TTN-related myopathy", + "disease", "entity", - "abnormal limb", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal ankle morphology", - "decreased length of anatomical entity", - "abnormal tarsal region morphology", - "abnormal tendon morphology", - "Lower-limb joint contracture", - "Abnormality of the musculature", - "Abnormality of the ankle", - "abnormal anatomical entity", - "abnormal anatomical entity length", - "abnormal connective tissue", - "Abnormality of limbs", - "Abnormality of the lower limb", - "decreased size of the anatomical entity", - "Phenotypic abnormality", - "abnormal size of anatomical entity", - "abnormal pes morphology", - "decreased length of anatomical entity in independent continuant", - "Abnormality of connective tissue", - "abnormal musculature", - "abnormal anatomical entity morphology", - "Ankle flexion contracture", - "abnormal skeletal joint morphology", - "phenotype", - "Abnormality of joint mobility", - "Phenotypic abnormality", - "Abnormal joint physiology", - "Abnormality of the skeletal system", - "Foot joint contracture", - "Abnormal joint morphology", - "abnormality of anatomical entity physiology", - "Abnormal tendon morphology", - "abnormal phenotype by ontology source", - "abnormal tarsal region", - "Abnormality of lower limb joint", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "abnormal leg", - "quality", - "All", - "abnormal skeletal system morphology", - "Joint contracture", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal anatomical entity morphology", - "Limb joint contracture", - "abnormal anatomical entity", - "abnormal hindlimb morphology", - "Ankle contracture", "continuant", - "specifically dependent continuant", - "abnormality of musculoskeletal system physiology", - "abnormal limb morphology", - "abnormal muscle organ morphology", - "Abnormal musculoskeletal physiology", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", + "congenital nervous system disorder", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "congenital myopathy", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0006466", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:12403||biolink:causes|MONDO:0012127", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040282", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -2215,11 +1461,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -2237,159 +1483,93 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6a5-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ + "id": "uuid:4df057d8-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:13164", + "original_subject": "NCBIGene:7555", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "CNBP", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0011266", + "original_object": "OMIM:602668", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0016107", "MONDO:0005071", - "BFO:0000016", - "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", "MONDO:0000001", + "MONDO:0016120", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0002254", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0005336", + "MONDO:0011266", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0700096", + "BFO:0000001", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "myotonic dystrophy type 2", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", + "syndromic disease", + "myotonic dystrophy", + "nervous system disorder", + "hereditary skeletal muscle disorder", + "specifically dependent continuant", "entity", - "congenital muscular dystrophy", + "human disease", + "disease", + "realizable entity", "disposition", - "muscle tissue disorder", - "nervous system disorder", - "myopathy", + "muscular dystrophy", "disease", + "continuant", + "myopathy", "progressive muscular dystrophy", "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", - "hereditary skeletal muscle disorder", - "continuant", - "human disease", + "myotonic syndrome", + "myotonic dystrophy type 2", "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", - "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0009058", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0051763", - "BFO:0000001", - "HP:0032243", - "UPHENO:0051668", - "UPHENO:0048763", - "UPHENO:0046284", - "UPHENO:0002816", - "UPHENO:0068532", - "UPHENO:0002536", - "HP:0000001", - "HP:0034370", - "UPHENO:0076692", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000002", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0051864", - "UPHENO:0051587", - "UPHENO:0046281", - "UPHENO:0068089", - "UPHENO:0076710", - "UPHENO:0067997", - "HP:0000118", - "HP:0003011", - "UPHENO:0048707", - "UPHENO:0078554", - "HP:0011805", - "UPHENO:0068313", - "HP:0009058", - "UPHENO:0001005", - "BFO:0000020", - "HP:0001939", - ], - "object_label": "Increased muscle lipid content", - "object_closure_label": [ - "Abnormal skeletal muscle morphology", - "abnormal independent continuant lipid level", - "abnormal muscle organ chemical entity level", - "Abnormality of metabolism/homeostasis", - "entity", - "increased level of chemical entity", - "increased level of organic molecular entity in independent continuant", - "Abnormal tissue metabolite concentration", - "abnormal independent continuant chemical entity level", - "increased level of lipid", - "Abnormality of the musculature", - "abnormal anatomical entity", - "abnormal multicellular organism chemical entity level", - "increased level of chemical entity in muscle organ", - "Phenotypic abnormality", - "increased level of lipid in independent continuant", - "abnormal chemical entity level", - "abnormal musculature", - "increased level of lipid in muscle organ", - "abnormal anatomical entity morphology", - "phenotype", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "Abnormal muscle tissue metabolite concentration", - "abnormal lipid level", - "increased level of chemical entity in independent continuant", - "Increased muscle lipid content", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "continuant", - "specifically dependent continuant", - "abnormal muscle organ morphology", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0009058", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:13164||biolink:causes|MONDO:0011266", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040282", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -2405,11 +1585,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -2427,315 +1607,95 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6a6-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df05e4a-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6189", + "original_subject": "NCBIGene:3714", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "JAG2", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0030456", + "original_object": "OMIM:619566", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0006025", "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0015152", "MONDO:0000001", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0016971", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0000429", + "MONDO:0030456", + "MONDO:0700096", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "muscular dystrophy, limb-girdle, autosomal recessive 27", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "autosomal genetic disease", + "muscular dystrophy, limb-girdle, autosomal recessive 27", + "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", - "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "disposition", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0100490", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "HP:0034681", - "HP:0034392", - "HP:0002813", - "UPHENO:0076727", - "UPHENO:0020584", - "UPHENO:0046505", - "UPHENO:0075696", - "UPHENO:0087888", - "UPHENO:0087369", - "HP:0012785", - "UPHENO:0084763", - "HP:0011314", - "HP:0005922", - "UPHENO:0076718", - "UPHENO:0081942", - "UPHENO:0002816", - "UPHENO:0081920", - "UPHENO:0002536", - "UPHENO:0088186", - "UPHENO:0002712", - "HP:0040064", - "HP:0000001", - "UPHENO:0076703", - "HP:0001167", - "UPHENO:0076723", - "UPHENO:0002905", - "HP:0034430", - "HP:0000924", - "UPHENO:0086759", - "UPHENO:0002708", - "HP:0001367", - "UPHENO:0079872", - "UPHENO:0076692", - "UPHENO:0084761", - "HP:0011297", - "PATO:0000001", - "UPHENO:0087501", - "HP:0003549", - "BFO:0000002", - "UPHENO:0075195", - "UPHENO:0084447", - "HP:0012385", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0081916", - "HP:0100360", - "HP:0009810", - "HP:0040068", - "UPHENO:0086913", - "UPHENO:0086765", - "UPHENO:0076767", - "HP:0001220", - "UPHENO:0076740", - "UPHENO:0086633", - "HP:0100261", - "HP:0002817", - "UPHENO:0021425", - "HP:0006261", - "UPHENO:0002896", - "UPHENO:0081937", - "UPHENO:0081950", - "UPHENO:0084448", - "HP:0011844", - "UPHENO:0081440", - "HP:0030044", - "UPHENO:0086635", - "UPHENO:0081941", - "UPHENO:0076710", - "UPHENO:0086700", - "UPHENO:0079876", - "UPHENO:0081949", - "HP:0011843", - "UPHENO:0087892", - "UPHENO:0079870", - "UPHENO:0081936", - "HP:0009473", - "UPHENO:0082875", - "UPHENO:0087793", - "UPHENO:0019981", - "UPHENO:0016527", - "HP:0000118", - "UPHENO:0086956", - "HP:0003011", - "UPHENO:0015280", - "UPHENO:0002964", - "UPHENO:0021800", - "HP:0003121", - "HP:0100490", - "UPHENO:0002880", - "UPHENO:0002830", - "UPHENO:0012541", - "UPHENO:0084766", - "HP:0001371", - "UPHENO:0087006", - "UPHENO:0087451", - "HP:0001155", - "HP:0011842", - "HP:0011805", - "UPHENO:0002332", - "UPHENO:0031839", - "BFO:0000001", - "UPHENO:0068971", - "HP:0011729", - "UPHENO:0001005", - "UPHENO:0001002", - "BFO:0000020", - "UPHENO:0087439", - "UPHENO:0046759", - "UPHENO:0020041", - "HP:0040070", - "HP:0005918", - ], - "object_label": "Camptodactyly of finger", - "object_closure_label": [ - "abnormal manual digit morphology in the independent continuant", - "Flexion contracture", - "abnormal autopod region morphology", - "abnormal limb joint morphology", - "Abnormality of the hand", - "Abnormal skeletal morphology", - "Abnormal skeletal muscle morphology", - "Abnormality of the upper limb", - "abnormal tendon morphology", - "Abnormal phalangeal joint morphology of the hand", - "abnormal limb bone", - "decreased length of tendon", - "abnormal long bone morphology", - "Camptodactyly of finger", - "abnormal arm", - "abnormal limb", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of anatomical entity", - "abnormal anatomical entity", - "abnormal tendon morphology", - "abnormal phalanx morphology", - "Flexion contracture of finger", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal long bone morphology", - "Abnormal hand morphology", - "abnormal bone of pectoral complex morphology", - "Abnormality of the musculature", - "decreased length of anatomical entity attached to independent continuant", - "abnormal anatomical entity", - "abnormal anatomical entity length", - "abnormal connective tissue", - "Abnormality of limbs", - "decreased size of the anatomical entity", - "Finger joint contracture", - "abnormal skeletal joint morphology in the independent continuant", - "Phenotypic abnormality", - "abnormal long bone morphology", - "abnormal size of anatomical entity", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "Abnormal upper limb bone morphology", - "Abnormal finger phalanx morphology", - "Camptodactyly", - "abnormal limb long bone morphology", - "Abnormality of connective tissue", - "Phenotypic abnormality", - "decreased length of tendon attached to digit", - "abnormal musculature", - "abnormal anatomical entity morphology", - "abnormal manual digit morphology in the manus", - "Abnormal digit morphology", - "Abnormality of limb bone", - "abnormal interphalangeal joint of manus morphology", - "abnormal forelimb joint morphology", - "abnormal skeletal joint morphology", - "Interphalangeal joint contracture of finger", - "phenotype", - "Abnormality of joint mobility", - "abnormal phenotype by ontology source", - "abnormal manus morphology", - "abnormal digit", - "Abnormal joint physiology", - "Abnormality of the skeletal system", - "abnormal autopod joint morphology", - "abnormal manus", - "Abnormal joint morphology", - "abnormal manus joint morphology", - "decreased length of tendon attached to independent continuant", - "decreased length of anatomical entity attached to manual digit", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", + "disease", "entity", - "abnormal skeletal joint morphology in the pectoral complex", - "decreased length of anatomical entity attached to forelimb joint", - "Joint contracture of the hand", - "abnormality of anatomical entity physiology", - "abnormal forelimb morphology", - "Abnormal tendon morphology", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "decreased length of tendon attached to forelimb joint", - "Upper-limb joint contracture", - "Abnormality of upper limb joint", - "quality", - "All", - "abnormal skeletal system morphology", - "Abnormal finger morphology", - "Joint contracture", - "Abnormality of limb bone morphology", - "abnormality of anatomical entity physiology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal limb bone morphology", - "abnormal anatomical entity morphology", - "Limb joint contracture", - "abnormal appendicular skeleton morphology", - "abnormal interphalangeal joint morphology", - "abnormal interphalangeal joint of manus morphology", "continuant", - "specifically dependent continuant", - "abnormal phalanx of manus morphology", - "abnormality of musculoskeletal system physiology", - "Flexion contracture of digit", - "abnormal limb morphology", - "decreased length of tendon attached to manual digit", - "abnormal muscle organ morphology", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased length of anatomical entity attached to digit", - "Abnormal musculoskeletal physiology", - "abnormal synovial joint morphology", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0100490", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:6189||biolink:causes|MONDO:0030456", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040282", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -2751,11 +1711,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -2773,163 +1733,109 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6a7-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ + "id": "uuid:4df1198e-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:19139", + "original_subject": "NCBIGene:55624", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "POMGNT1", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0009667", + "original_object": "OMIM:253280", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0019052", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0018276", + "MONDO:0045010", + "MONDO:0024322", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0002320", "MONDO:0000001", + "MONDO:0015286", "MONDO:0020121", - "MONDO:0003939", + "MONDO:0700068", + "OGMS:0000031", "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0017741", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0005066", + "MONDO:0000171", + "BFO:0000017", + "MONDO:0700096", + "MONDO:0018939", + "MONDO:0009667", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "disorder of protein O-glycosylation", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", + "metabolic disease", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "inborn errors of metabolism", + "disorder of glycosylation", + "disposition", + "muscle-eye-brain disease", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0000962", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0081431", - "UPHENO:0020750", - "HP:0011368", - "HP:0011124", - "UPHENO:0020584", - "UPHENO:0047953", - "UPHENO:0085691", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0047821", - "UPHENO:0003811", - "UPHENO:0076692", - "UPHENO:0001002", - "BFO:0000002", - "UPHENO:0075195", - "UPHENO:0087435", - "UPHENO:0001003", - "HP:0000962", - "UPHENO:0075696", - "UPHENO:0048320", - "UPHENO:0076739", - "UPHENO:0002635", - "UPHENO:0047979", - "UPHENO:0065599", - "HP:0000118", - "UPHENO:0015280", - "HP:0000951", - "HP:0001574", - "HP:0001072", - "HP:0011121", - "BFO:0000001", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0001072", - "PATO:0000001", - ], - "object_label": "Hyperkeratosis", - "object_closure_label": [ - "Thickened skin", - "abnormal skin of body morphology", - "abnormal integument", - "Abnormality of the integument", - "increased thickness of the skin epidermis", - "abnormal anatomical entity thickness", - "Abnormal epidermal morphology", - "abnormal anatomical entity", - "abnormal skin of body morphology in the independent continuant", - "abnormal skin epidermis morphology", - "Phenotypic abnormality", - "abnormal size of anatomical entity", - "abnormal skin epidermis morphology", - "quality", - "abnormal anatomical entity morphology", - "phenotype", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "increased size of the anatomical entity", - "increased thickness of the skin of body", + "myopathy caused by variation in POMGNT1", + "disease", + "myopathy", "entity", - "increased thickness of the anatomical entity in independent continuant", - "Abnormality of skin morphology", - "phenotype by ontology source", - "Hyperkeratosis", - "All", - "increased thickness of the anatomical entity", - "abnormal skin of body", - "Epidermal thickening", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology", - "Abnormality of the skin", - "abnormal anatomical entity", - "increased size of the anatomical entity in independent continuant", - "continuant", - "specifically dependent continuant", + "congenital nervous system disorder", + "musculoskeletal system disorder", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "muscular dystrophy-dystroglycanopathy, type A", + "realizable entity", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0000962", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:19139||biolink:causes|MONDO:0009667", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040283", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -2945,11 +1851,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -2967,169 +1873,113 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6a8-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ + "id": "uuid:4df19ff8-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:37276", + "original_subject": "NCBIGene:729920", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "CRPPA", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0013835", + "original_object": "OMIM:614643", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "MONDO:0005071", - "BFO:0000016", - "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0020120", + "MONDO:0100530", + "MONDO:0019056", + "MONDO:0019052", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0013835", + "MONDO:0016155", + "MONDO:0018276", + "MONDO:0045010", + "MONDO:0024322", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0002320", + "MONDO:0018282", "MONDO:0000001", + "MONDO:0015286", "MONDO:0020121", - "MONDO:0003939", + "OGMS:0000031", + "BFO:0000017", "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0017741", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0005066", + "MONDO:0000171", + "MONDO:0016139", + "MONDO:0700096", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7", + "object_closure_label": [ + "skeletal muscle disorder", + "myopathy caused by variation in CRPPA", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "disorder of protein O-glycosylation", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", + "metabolic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "inborn errors of metabolism", + "disorder of glycosylation", + "realizable entity", + "disposition", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0001073", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0081431", - "HP:0011355", - "HP:0001073", - "UPHENO:0020584", - "BFO:0000001", - "HP:0000987", - "HP:0100699", - "UPHENO:0002536", - "UPHENO:0002712", - "HP:0000001", - "UPHENO:0003811", - "UPHENO:0014089", - "UPHENO:0076692", - "PATO:0000001", - "UPHENO:0013936", - "HP:0003549", - "UPHENO:0075195", - "HP:0033127", - "UPHENO:0001003", - "HP:0001075", - "UPHENO:0075696", - "UPHENO:0001005", - "UPHENO:0076739", - "HP:0004334", - "UPHENO:0002635", - "HP:0008065", - "UPHENO:0080142", - "HP:0000118", - "BFO:0000002", - "UPHENO:0015280", - "HP:0000951", - "HP:0001574", - "UPHENO:0012541", - "UPHENO:0080079", - "HP:0011121", - "UPHENO:0068971", - "UPHENO:0001002", - "BFO:0000020", - ], - "object_label": "Cigarette-paper scars", - "object_closure_label": [ - "aplasia or hypoplasia of anatomical entity", - "abnormal skin of body morphology", - "Dermal atrophy", - "abnormal integument", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7", + "qualitative or quantitative defects of alpha-dystroglycan", + "disease", + "myopathy", "entity", - "Abnormality of the integument", - "decreased size of the anatomical entity in the independent continuant", - "Atypical scarring of skin", - "Cigarette-paper scars", - "abnormal anatomical entity", - "abnormal connective tissue", - "decreased size of the anatomical entity", - "abnormal skin of body morphology in the independent continuant", - "Phenotypic abnormality", - "continuant", - "abnormal size of anatomical entity", - "anatomical entity atrophy", - "Abnormality of connective tissue", - "Phenotypic abnormality", - "Scarring", - "abnormal anatomical entity morphology", - "Atrophic scars", - "phenotype", - "Aplasia/Hypoplasia of the skin", - "aplasia or hypoplasia of skin of body", - "abnormal phenotype by ontology source", - "Abnormality of skin morphology", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "abnormal skin of body", - "skin of body atrophy", - "Localized skin lesion", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology", - "Abnormality of the skin", - "abnormal anatomical entity", - "specifically dependent continuant", + "congenital nervous system disorder", + "musculoskeletal system disorder", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "muscular dystrophy-dystroglycanopathy, type A", + "hereditary disease", + "muscle tissue disorder", + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0001073", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:37276||biolink:causes|MONDO:0013835", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040283", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -3145,11 +1995,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -3167,143 +2017,99 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6a9-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df28bf2-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:3097", + "original_subject": "NCBIGene:8291", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "DYSF", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0009676", + "original_object": "OMIM:253601", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0006025", "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", + "MONDO:0016145", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0015152", "MONDO:0000001", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0016971", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0000429", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0009676", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "autosomal genetic disease", + "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", - "continuant", - "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", - "muscular dystrophy", "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0001382", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "BFO:0000002", - "UPHENO:0076943", - "BFO:0000001", - "UPHENO:0002536", - "HP:0000001", - "HP:0001382", - "HP:0034430", - "HP:0000924", - "UPHENO:0077419", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0075696", - "UPHENO:0077421", - "UPHENO:0002332", - "UPHENO:0081440", - "HP:0011843", - "UPHENO:0082875", - "HP:0000118", - "UPHENO:0002964", - "UPHENO:0076944", - "UPHENO:0001002", - "HP:0011729", - "UPHENO:0001005", - "BFO:0000020", - "PATO:0000001", - ], - "object_label": "Joint hypermobility", - "object_closure_label": [ - "Phenotypic abnormality", - "abnormality of anatomical entity physiology", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "disease", + "realizable entity", + "disposition", + "autosomal recessive limb-girdle muscular dystrophy type 2B", + "muscular dystrophy", + "disease", "entity", - "abnormal skeletal joint mobility", - "abnormal anatomical entity", - "Phenotypic abnormality", - "increased anatomical entity mobility", - "quality", - "abnormal anatomical entity mobility", - "phenotype", - "Abnormality of joint mobility", - "abnormal phenotype by ontology source", - "Abnormal joint physiology", - "Abnormality of the skeletal system", - "abnormality of anatomical entity physiology", - "increased skeletal joint mobility", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "All", - "Joint hypermobility", "continuant", - "abnormal skeletal system", - "abnormal anatomical entity", - "specifically dependent continuant", - "abnormality of musculoskeletal system physiology", - "Abnormal musculoskeletal physiology", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "qualitative or quantitative defects of dysferlin", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0001382", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:3097||biolink:causes|MONDO:0009676", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040283", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -3319,11 +2125,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -3341,117 +2147,115 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6ab-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df29412-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:10807", + "original_subject": "NCBIGene:6444", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "SGCD", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0011028", + "original_object": "OMIM:601287", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "BFO:0000020", + "MONDO:0011028", + "MONDO:0006025", + "MONDO:0016333", "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0004994", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0005021", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0015152", "MONDO:0000001", + "MONDO:0005217", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", - "BFO:0000020", - "MONDO:0700096", + "MONDO:0004995", + "MONDO:0016140", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0000591", + "MONDO:0016971", + "MONDO:0005336", "MONDO:0002081", + "MONDO:0000429", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0016144", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2F", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "autosomal genetic disease", + "familial cardiomyopathy", + "dilated cardiomyopathy", + "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", + "heart disorder", "hereditary skeletal muscle disorder", "continuant", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "disposition", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0002086", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "BFO:0000001", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0004536", - "PATO:0000001", - "UPHENO:0001003", - "HP:0000118", - "BFO:0000002", - "UPHENO:0001002", - "UPHENO:0001005", - "BFO:0000020", - "HP:0002086", - ], - "object_label": "Abnormality of the respiratory system", - "object_closure_label": [ - "Phenotypic abnormality", + "cardiovascular disorder", + "sarcoglycanopathy", + "familial dilated cardiomyopathy", + "qualitative or quantitative defects of delta-sarcoglycan", + "disease", + "intrinsic cardiomyopathy", "entity", - "abnormal anatomical entity", - "Phenotypic abnormality", - "continuant", - "Abnormality of the respiratory system", - "phenotype", - "abnormal phenotype by ontology source", - "phenotype by ontology source", - "quality", - "All", - "abnormal respiratory system", "specifically dependent continuant", + "autosomal recessive limb-girdle muscular dystrophy type 2F", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", + "cardiomyopathy", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002086", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:10807||biolink:causes|MONDO:0011028", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040283", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -3467,11 +2271,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -3489,155 +2293,97 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6ac-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df30c4e-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:1938", + "original_subject": "NCBIGene:1120", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "CHKB", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0011246", + "original_object": "OMIM:602541", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0019052", "MONDO:0700223", + "MONDO:0011246", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0002320", "MONDO:0000001", + "MONDO:0002525", "MONDO:0020121", - "MONDO:0003939", + "MONDO:0018117", + "OGMS:0000031", + "BFO:0000017", "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0005066", + "MONDO:0700096", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "megaconial type congenital muscular dystrophy", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "inherited lipid metabolism disorder", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", - "continuant", + "specifically dependent continuant", + "metabolic disease", + "disorder of phospholipids, sphingolipids and fatty acids biosynthesis", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "inborn errors of metabolism", + "realizable entity", + "disposition", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0002515", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0049622", - "BFO:0000001", - "UPHENO:0001005", - "UPHENO:0002433", - "UPHENO:0002536", - "UPHENO:0049587", - "HP:0000001", - "UPHENO:0080585", - "HP:0002515", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0075696", - "UPHENO:0078622", - "UPHENO:0049586", - "BFO:0000020", - "UPHENO:0050606", - "HP:0001288", - "UPHENO:0079833", - "UPHENO:0082875", - "HP:0100022", - "HP:0000118", - "UPHENO:0050613", - "HP:0011446", - "HP:0012638", - "UPHENO:0002332", - "HP:0000707", - "UPHENO:0079826", - "UPHENO:0004523", - "HP:0000708", - ], - "object_label": "Waddling gait", - "object_closure_label": [ - "specifically dependent continuant", - "abnormal voluntary musculoskeletal movement", - "Atypical behavior", + "disease", "entity", - "Abnormal nervous system physiology", - "abnormal phenotype by ontology source", - "abnormal musculoskeletal movement", - "abnormal anatomical entity", - "abnormal biological_process", - "abnormal behavior", - "Phenotypic abnormality", - "abnormal behavior process", - "abnormal nervous system", - "abnormality of nervous system physiology", - "Waddling gait", - "phenotype", - "Phenotypic abnormality", - "Gait disturbance", - "abnormality of anatomical entity physiology", - "phenotype by ontology source", - "quality", - "All", - "abnormal behavior process", - "abnormality of anatomical entity physiology", - "abnormal anatomical entity", - "abnormal voluntary movement behavior", - "abnormal response to stimulus", - "Abnormality of movement", "continuant", - "Abnormality of the nervous system", - "Abnormality of mental function", - "abnormal voluntary movement behavior", + "myopathy", + "congenital nervous system disorder", + "musculoskeletal system disorder", + "hereditary disease", + "muscle tissue disorder", + "megaconial type congenital muscular dystrophy", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002515", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:1938||biolink:causes|MONDO:0011246", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040283", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -3653,11 +2399,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -3675,131 +2421,97 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6ae-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df364a0-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6482", + "original_subject": "NCBIGene:3908", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "LAMA2", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0029136", + "original_object": "OMIM:618138", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0006025", "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", + "MONDO:0029136", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0015152", "MONDO:0000001", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "MONDO:0016106", + "MONDO:0016971", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0100228", + "MONDO:0000429", + "BFO:0000017", + "MONDO:0700096", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "muscular dystrophy, limb-girdle, autosomal recessive 23", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "LAMA2-related muscular dystrophy", + "autosomal genetic disease", + "muscular dystrophy, limb-girdle, autosomal recessive 23", + "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", - "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "disposition", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0002791", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0002536", - "HP:0002791", - "HP:0000001", - "UPHENO:0004536", - "HP:0002793", - "PATO:0000001", - "UPHENO:0002448", - "UPHENO:0001002", - "BFO:0000002", - "UPHENO:0001003", - "HP:0002795", - "UPHENO:0075696", - "BFO:0000020", - "UPHENO:0082875", - "HP:0000118", - "UPHENO:0002332", - "UPHENO:0001005", - "BFO:0000001", - "HP:0002086", - ], - "object_label": "Hypoventilation", - "object_closure_label": [ - "specifically dependent continuant", - "abnormal anatomical entity", - "Hypoventilation", - "Phenotypic abnormality", - "Abnormality of the respiratory system", - "abnormality of respiratory system physiology", - "Abnormal respiratory system physiology", - "phenotype", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "Abnormal pattern of respiration", + "disease", "entity", - "abnormality of anatomical entity physiology", - "phenotype by ontology source", - "quality", - "All", - "abnormal respiratory system", - "abnormality of anatomical entity physiology", - "abnormal anatomical entity", "continuant", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "realizable entity", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002791", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:6482||biolink:causes|MONDO:0029136", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040283", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -3815,11 +2527,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, @@ -3837,147 +2549,93 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:d0e1e6af-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df380e8-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2979", + "original_subject": "NCBIGene:1789", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "DNMT3B", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0030355", + "original_object": "OMIM:619478", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0030355", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", "MONDO:0000001", + "MONDO:0001347", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0019303", + "MONDO:0100137", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", + "MONDO:0700096", ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "facioscapulohumeral muscular dystrophy 4, digenic", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "disposition", "muscular dystrophy", - "specifically dependent continuant", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_phenotype", - "object": "HP:0002938", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "HP:0000925", - "UPHENO:0020584", - "HP:0010674", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0076703", - "HP:0000924", - "UPHENO:0087089", - "UPHENO:0076692", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000002", - "HP:0009121", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0022529", - "UPHENO:0075696", - "HP:0000118", - "UPHENO:0015280", - "UPHENO:0002964", - "HP:0003307", - "HP:0011842", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0002813", - "HP:0002938", - "BFO:0000001", - ], - "object_label": "Lumbar hyperlordosis", - "object_closure_label": [ - "Abnormal skeletal morphology", - "abnormal vertebral column", - "Lumbar hyperlordosis", - "Abnormality of the vertebral column", - "abnormal anatomical entity", - "Phenotypic abnormality", - "Abnormal axial skeleton morphology", - "Abnormal curvature of the vertebral column", - "abnormal anatomical entity morphology", - "abnormal postcranial axial skeleton morphology", - "phenotype", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "Abnormality of the skeletal system", - "abnormal axial skeleton plus cranial skeleton morphology", + "disease", + "telomere syndrome", "entity", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "abnormal skeletal system morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal anatomical entity morphology", - "abnormal anatomical entity", - "continuant", - "specifically dependent continuant", - "Hyperlordosis", + "premature aging syndrome", + "myopathy", + "progressive muscular dystrophy", + "facioscapulohumeral muscular dystrophy", + "musculoskeletal system disorder", + "facioscapulohumeral muscular dystrophy 4, digenic", + "hereditary disease", + "muscle tissue disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [{"id": "ECO:0000304", "url": "http://purl.obolibrary.org/obo/ECO_0000304"}], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002938", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "HGNC:2979||biolink:causes|MONDO:0030355", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["orphanet:610"], - "publications_links": [{"id": "orphanet:610", "url": None}], - "frequency_qualifier": "HP:0040283", + "publications": [], + "publications_links": [], + "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, "stage_qualifier": None, @@ -3993,11 +2651,11 @@ def associations(): "qualifier_category": None, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": None, "onset_qualifier_namespace": None, "onset_qualifier_category": None, diff --git a/backend/tests/fixtures/associations_compact.py b/backend/tests/fixtures/associations_compact.py index bd4c9dc14..6a86f5834 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": 4627, + "total": 4618, "items": [ { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0001371", - "object_label": "Flexion contracture", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2933", + "subject_label": "DMPK", + "predicate": "biolink:causes", + "object": "MONDO:0008056", + "object_label": "myotonic dystrophy type 1", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0003458", - "object_label": "EMG: myopathic abnormalities", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:22932", + "subject_label": "GMPPB", + "predicate": "biolink:causes", + "object": "MONDO:0014140", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0003560", - "object_label": "Muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:22932", + "subject_label": "GMPPB", + "predicate": "biolink:causes", + "object": "MONDO:0014141", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0030095", - "object_label": "Reduced muscle collagen VI", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:22932", + "subject_label": "GMPPB", + "predicate": "biolink:causes", + "object": "MONDO:0014142", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2T", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0001220", - "object_label": "Interphalangeal joint contracture of finger", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:3756", + "subject_label": "FLNC", + "predicate": "biolink:causes", + "object": "MONDO:0013550", + "object_label": "distal myopathy with posterior leg and anterior hand involvement", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0001288", - "object_label": "Gait disturbance", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:11122", + "subject_label": "SMPX", + "predicate": "biolink:causes", + "object": "MONDO:0024771", + "object_label": "myopathy, distal, 7, adult-onset, X-linked", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0002355", - "object_label": "Difficulty walking", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:691", + "subject_label": "PHOX2A", + "predicate": "biolink:causes", + "object": "MONDO:0011181", + "object_label": "fibrosis of extraocular muscles, congenital, 2", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0002460", - "object_label": "Distal muscle weakness", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15999", + "subject_label": "SELENON", + "predicate": "biolink:causes", + "object": "MONDO:0011271", + "object_label": "rigid spine muscular dystrophy 1", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0003325", - "object_label": "Limb-girdle muscle weakness", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:29456", + "subject_label": "TOR1AIP1", + "predicate": "biolink:causes", + "object": "MONDO:0014900", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2Y", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0003731", - "object_label": "Quadriceps muscle weakness", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2928", + "subject_label": "DMD", + "predicate": "biolink:causes", + "object": "MONDO:0010311", + "object_label": "Becker muscular dystrophy", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0006466", - "object_label": "Ankle flexion contracture", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:12403", + "subject_label": "TTN", + "predicate": "biolink:causes", + "object": "MONDO:0012127", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2J", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0009058", - "object_label": "Increased muscle lipid content", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:13164", + "subject_label": "CNBP", + "predicate": "biolink:causes", + "object": "MONDO:0011266", + "object_label": "myotonic dystrophy type 2", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0100490", - "object_label": "Camptodactyly of finger", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6189", + "subject_label": "JAG2", + "predicate": "biolink:causes", + "object": "MONDO:0030456", + "object_label": "muscular dystrophy, limb-girdle, autosomal recessive 27", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0000962", - "object_label": "Hyperkeratosis", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:19139", + "subject_label": "POMGNT1", + "predicate": "biolink:causes", + "object": "MONDO:0009667", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0001073", - "object_label": "Cigarette-paper scars", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:37276", + "subject_label": "CRPPA", + "predicate": "biolink:causes", + "object": "MONDO:0013835", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0001382", - "object_label": "Joint hypermobility", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:3097", + "subject_label": "DYSF", + "predicate": "biolink:causes", + "object": "MONDO:0009676", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0002086", - "object_label": "Abnormality of the respiratory system", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:10807", + "subject_label": "SGCD", + "predicate": "biolink:causes", + "object": "MONDO:0011028", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2F", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0002515", - "object_label": "Waddling gait", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:1938", + "subject_label": "CHKB", + "predicate": "biolink:causes", + "object": "MONDO:0011246", + "object_label": "megaconial type congenital muscular dystrophy", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0002791", - "object_label": "Hypoventilation", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6482", + "subject_label": "LAMA2", + "predicate": "biolink:causes", + "object": "MONDO:0029136", + "object_label": "muscular dystrophy, limb-girdle, autosomal recessive 23", "negated": None, }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0002938", - "object_label": "Lumbar hyperlordosis", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2979", + "subject_label": "DNMT3B", + "predicate": "biolink:causes", + "object": "MONDO:0030355", + "object_label": "facioscapulohumeral muscular dystrophy 4, digenic", "negated": None, }, ], diff --git a/backend/tests/fixtures/autocomplete.py b/backend/tests/fixtures/autocomplete.py index 357f6053b..3e741b2eb 100644 --- a/backend/tests/fixtures/autocomplete.py +++ b/backend/tests/fixtures/autocomplete.py @@ -11,7 +11,7 @@ def autocomplete(): { "id": "HP:0001994", "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", + "name": "Renal Fanconi syndrome (HPO)", "full_name": None, "deprecated": 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.", @@ -20,7 +20,7 @@ def autocomplete(): "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], + "synonym": ["'de toni-fanconi-debre' syndrome", "Renal tubular fanconi syndrome"], "uri": None, "namespace": "HP", "has_phenotype": [], @@ -99,975 +99,1550 @@ def autocomplete(): "HP:0003251", ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Anemic pallor", - "Renal agenesis", - "Absent radius", - "Pancytopenia", - "Cryptorchidism", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of skin pigmentation", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Anemia", - "Leukemia", - "Abnormal renal morphology", - "Duplicated collecting system", - "Horseshoe kidney", - "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Male infertility", + "Ectopic kidney (HPO)", + "Neutropenia (HPO)", + "Absent thumb (HPO)", + "Intellectual disability (HPO)", + "Microcephaly (HPO)", + "Abnormal heart morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Hypergonadotropic hypogonadism (HPO)", + "Anemic pallor (HPO)", + "Renal agenesis (HPO)", + "Absent radius (HPO)", + "Pancytopenia (HPO)", + "Cryptorchidism (HPO)", + "Thrombocytopenia (HPO)", + "Short thumb (HPO)", + "Reticulocytopenia (HPO)", + "Microphthalmia (HPO)", + "Small for gestational age (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Abnormality of skin pigmentation (HPO)", + "Complete duplication of thumb phalanx (HPO)", + "Bruising susceptibility (HPO)", + "Anemia (HPO)", + "Leukemia (HPO)", + "Abnormal renal morphology (HPO)", + "Duplicated collecting system (HPO)", + "Horseshoe kidney (HPO)", + "Short stature (HPO)", + "Strabismus (HPO)", + "Hearing impairment (HPO)", + "Prolonged G2 phase of cell cycle (HPO)", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Male infertility (HPO)", ], "has_phenotype_closure": [ "HP:0000789", - "UPHENO:0049671", - "UPHENO:0051124", - "UPHENO:0049964", + "GO:0071704", + "GO:0006807", + "GO:0044238", + "GO:0051716", "HP:0003254", - "HP:0003214", + "UPHENO:0049671", + "GO:0090304", + "GO:0006974", + "GO:0006725", + "GO:0034641", + "GO:0022403", + "GO:0022402", "UPHENO:0049952", - "HP:0000598", - "UPHENO:0052231", + "GO:0051319", + "GO:0051325", + "HP:0011018", + "HP:0003214", + "GO:0046483", + "GO:0007605", + "UPHENO:0002240", + "UPHENO:0052970", + "HP:0031704", "UPHENO:0005518", - "HP:0000365", - "HP:0012373", + "UBERON:0001690", + "UBERON:0002105", + "BFO:0000141", + "HP:0000496", + "UPHENO:0049622", "UPHENO:0049586", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0000549", + "NBO:0000338", "UPHENO:0079828", - "UPHENO:0000543", + "NBO:0000001", + "UBERON:0000015", "UPHENO:0080352", - "UPHENO:0081424", - "UPHENO:0082129", - "UPHENO:0041821", "UPHENO:0080351", + "UPHENO:0079826", + "UPHENO:0080300", + "UPHENO:0082129", + "UPHENO:0019487", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0041075", + "UBERON:0004100", "HP:0004742", - "UPHENO:0052970", - "UPHENO:0075787", - "HP:0011793", - "HP:0000978", - "HP:0003213", + "HP:0004377", + "HP:0002664", + "UBERON:0000477", + "MPATH:105", + "UBERON:0002049", + "MPATH:603", "UPHENO:0051097", - "HP:0011025", - "UPHENO:0080581", - "HP:0011028", - "HP:0005918", - "UPHENO:0082444", - "UPHENO:0020041", - "UPHENO:0084447", - "HP:0004275", + "HP:0001933", + "GO:0008015", + "GO:0003013", + "UBERON:0007798", + "UPHENO:0002678", "HP:0009942", - "HP:0011018", - "HP:0011314", - "HP:0009998", - "UPHENO:0050116", + "HP:0004275", + "GO:0031049", + "GO:0050789", + "GO:0071840", + "UPHENO:0049873", + "GO:0010558", "HP:0001939", - "HP:0011017", - "UPHENO:0050021", - "UPHENO:0049990", - "HP:0003220", - "UPHENO:0049748", - "HP:0002664", - "UPHENO:0078606", - "HP:0003221", - "HP:0004377", - "UPHENO:0050845", - "UPHENO:0010763", + "UPHENO:0049700", + "HP:0040012", + "GO:0060255", + "GO:0009892", + "GO:0043933", + "GO:0008152", + "GO:0009987", + "HP:0012041", + "UPHENO:0050113", + "UPHENO:0050121", + "UBERON:0010222", + "MPATH:1000", + "GO:0010556", + "GO:0016043", + "GO:0009890", + "GO:0010605", + "GO:0031324", + "GO:0019222", + "GO:0040029", + "GO:0044848", + "GO:0006338", "HP:0004325", - "HP:0004323", + "UPHENO:0082444", + "UPHENO:0054261", + "UPHENO:0010763", + "GO:0040007", + "UPHENO:0082794", + "HP:0000144", "UPHENO:0082761", - "UPHENO:0010795", - "HP:0001507", - "HP:0001518", - "HP:0002597", - "UPHENO:0049874", - "UPHENO:0054299", + "HP:0011017", + "UBERON:0010230", "HP:0000271", - "HP:0000002", - "UPHENO:0069523", - "UPHENO:0002910", - "UPHENO:0003020", + "UPHENO:0075787", + "UBERON:0001456", + "UPHENO:0075219", + "UBERON:0001444", + "HP:0008056", + "UBERON:0000970", + "UPHENO:0080209", + "UPHENO:0080585", + "UPHENO:0075997", + "GO:0050954", + "UBERON:0004456", + "UBERON:0001032", + "UBERON:0000019", "HP:0000568", - "HP:0100887", - "HP:0000478", - "HP:0012372", - "HP:0001896", - "UPHENO:0085263", - "HP:0004312", - "UPHENO:0046624", - "UPHENO:0068971", - "UPHENO:0031839", - "UPHENO:0046411", "UPHENO:0012541", + "UPHENO:0046411", + "UPHENO:0020795", + "UPHENO:0012274", + "HP:0011927", + "HP:0004323", "HP:0009381", - "UPHENO:0041465", - "UPHENO:0046505", - "HP:0000496", - "UPHENO:0087472", - "UPHENO:0046707", - "HP:0000812", - "UPHENO:0005651", - "HP:0001510", - "UPHENO:0086201", - "UPHENO:0002598", - "UPHENO:0041226", - "UPHENO:0086023", + "UPHENO:0046624", + "CL:0000019", + "GO:0003006", + "HP:0009602", + "GO:0048609", + "GO:0000003", + "UPHENO:0052231", + "GO:0032504", + "HP:0012243", + "HP:0004312", "UPHENO:0050101", - "HP:0011927", - "UPHENO:0052778", + "UPHENO:0021474", + "HP:0000811", + "UBERON:0003135", + "UBERON:0003101", "UPHENO:0002597", - "UPHENO:0005597", - "UPHENO:0053644", - "HP:0012243", - "UPHENO:0041629", - "UPHENO:0080382", - "HP:0008669", + "HP:0009778", + "HP:0000812", + "UPHENO:0050108", + "UPHENO:0002371", "UPHENO:0020950", - "UPHENO:0053298", - "UPHENO:0021800", - "UPHENO:0085874", - "HP:0000027", - "HP:0000811", - "HP:0008056", + "UPHENO:0049985", + "UPHENO:0049964", + "GO:0031326", + "CL:0000558", + "HP:0000035", + "GO:0010468", + "HP:0010461", + "UPHENO:0002599", + "CL:0000015", + "GO:0006281", + "GO:0048232", + "GO:0032502", + "GO:0022414", + "UPHENO:0041821", + "UPHENO:0002595", "HP:0000025", - "HP:0009943", - "UPHENO:0087846", - "UPHENO:0086198", - "UPHENO:0078452", + "GO:0007600", + "HP:0012874", + "HP:0000598", + "CL:0000586", + "GO:0007283", + "GO:0007276", + "UPHENO:0019615", + "HP:0008669", + "UBERON:0004053", + "UBERON:0004054", "UPHENO:0049970", - "UPHENO:0021474", - "UPHENO:0002595", - "UPHENO:0049701", - "HP:0000028", - "HP:0000035", - "UPHENO:0087973", - "HP:0012145", - "UPHENO:0086049", - "HP:0001872", - "UPHENO:0085302", - "UPHENO:0087339", - "UPHENO:0084987", - "UPHENO:0041075", - "UPHENO:0050108", - "UPHENO:0085144", - "UPHENO:0002903", + "UBERON:0000473", + "CL:0000413", + "UPHENO:0080382", + "UBERON:0000079", + "CL:0000039", + "UPHENO:0005016", + "UPHENO:0078729", + "UPHENO:0021561", + "HP:0000315", + "CL:0002092", "HP:0011875", - "UPHENO:0002678", - "UPHENO:0049873", + "GO:0006950", + "GO:0031327", + "HP:0001872", + "HP:0001876", + "CL:0000458", + "CL:0001035", + "HP:0001873", + "HP:0012145", + "CL:0000233", "HP:0005561", - "HP:0011873", - "UPHENO:0087355", - "UPHENO:0086173", - "UPHENO:0080187", + "UPHENO:0080581", + "UPHENO:0002598", + "CL:0000151", + "UPHENO:0081511", + "UBERON:0011584", + "HP:0006503", + "HP:0003953", + "HP:0009823", + "HP:0006501", + "UPHENO:0075944", + "UBERON:0003460", + "UBERON:0001423", + "UPHENO:0026128", "HP:0002973", - "HP:0031704", + "UBERON:0002386", + "UPHENO:0080187", + "UPHENO:0076941", + "UBERON:0015001", + "HP:0040072", + "UPHENO:0002719", + "UPHENO:0009399", + "UPHENO:0025945", + "UBERON:0010703", + "UPHENO:0002751", + "UPHENO:0025100", + "UPHENO:0008593", + "GO:0050794", + "HP:0000104", + "HP:0000980", + "GO:0019953", + "CL:0000764", + "HP:0012373", + "CL:0000232", + "CL:0000408", + "CL:0000329", + "UBERON:0005156", + "UBERON:0003133", + "HP:0000135", + "HP:0000022", + "UBERON:0000990", + "HP:0012733", + "UPHENO:0001005", + "UPHENO:0054957", + "UPHENO:0021284", + "HP:0011446", + "UPHENO:0050008", + "UPHENO:0003116", + "UPHENO:0076739", + "GO:0048523", + "UPHENO:0054970", + "HP:0000957", + "HP:0009997", + "HP:0001034", + "HP:0000951", + "UPHENO:0080362", + "HP:0001518", + "UBERON:0015228", + "UPHENO:0080221", + "UBERON:0002075", + "UBERON:0005181", + "NBO:0000313", + "HP:0000119", + "UBERON:0004535", + "UBERON:0007100", + "GO:0048519", + "UBERON:0000991", "HP:0040070", - "UPHENO:0086956", - "UPHENO:0084766", + "UBERON:0002090", + "UBERON:0000948", + "UBERON:0001017", + "HP:0001172", + "HP:0000240", + "UPHENO:0081435", + "UPHENO:0002910", + "HP:0009121", + "HP:0002011", + "HP:0009815", + "HP:0040195", + "HP:0011961", + "UPHENO:0003811", + "UPHENO:0076702", + "HP:0011028", + "UPHENO:0049367", + "UBERON:0011250", + "UPHENO:0022529", + "UPHENO:0000543", + "UBERON:0002471", + "UPHENO:0076718", + "UBERON:0010323", + "UBERON:0000047", + "UPHENO:0026023", + "HP:0000929", + "UPHENO:0010795", + "UBERON:0015023", + "UBERON:0003607", + "UPHENO:0076805", "UPHENO:0002830", - "UPHENO:0076675", - "HP:0011276", - "UPHENO:0084448", - "HP:0002817", - "HP:0009601", - "HP:0100542", - "UPHENO:0025945", - "HP:0009777", - "UPHENO:0003055", - "HP:0011297", - "UPHENO:0012274", - "UPHENO:0085118", - "UPHENO:0088148", - "UPHENO:0084761", + "HP:0007364", + "UBERON:0002097", + "HP:0000152", + "UBERON:0001890", + "UPHENO:0005433", + "BFO:0000002", + "UPHENO:0082682", + "NCBITaxon:33154", + "HP:0000234", + "HP:0100547", + "UBERON:0011138", + "HP:0002060", + "NCBITaxon:6072", + "UBERON:0000073", + "UPHENO:0025211", + "UBERON:0003129", + "HP:0007400", + "HP:0012639", + "HP:0012443", + "HP:0000027", "UPHENO:0081566", - "HP:0011121", - "UPHENO:0002964", - "UPHENO:0081511", - "UPHENO:0080099", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", - "UPHENO:0081435", - "HP:0005922", - "UPHENO:0079826", - "HP:0009142", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0084763", - "UPHENO:0086633", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0086700", - "UPHENO:0086019", - "UPHENO:0011498", - "HP:0011991", - "UPHENO:0074589", - "HP:0009115", - "UPHENO:0080079", - "HP:0011844", - "HP:0000707", - "UPHENO:0086172", - "UPHENO:0009341", - "UPHENO:0087501", - "UPHENO:0006910", - "HP:0001909", - "UPHENO:0087123", - "HP:0006265", - "UPHENO:0087089", - "HP:0001933", - "UPHENO:0035025", - "UPHENO:0088321", - "HP:0001892", - "HP:0000315", - "UPHENO:0021561", - "UPHENO:0085189", - "UPHENO:0080200", - "UPHENO:0088338", - "HP:0011354", - "UPHENO:0005433", - "UPHENO:0080114", - "HP:0000081", - "UPHENO:0085873", - "HP:0000234", - "HP:0009602", - "UPHENO:0085070", - "HP:0010974", - "HP:0012443", - "UPHENO:0002708", - "UPHENO:0080209", - "UPHENO:0087802", - "HP:0001000", - "HP:0000079", + "UBERON:0004175", + "UPHENO:0074584", "HP:0012638", + "HP:0000707", + "HP:0001249", + "UPHENO:0024906", + "UBERON:0015204", + 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"UBERON:0012354", + "HP:0000365", + "HP:0012210", + "HP:0020047", + "UBERON:0000020", + "UPHENO:0076799", + "UBERON:0000465", + "HP:0003221", + "BFO:0000004", + "BFO:0000020", "HP:0000085", - "HP:0003953", - "HP:0012874", - "HP:0009825", + "UBERON:0019221", + "HP:0001510", + "HP:0011355", + "HP:0100542", + "HP:0001903", + "UPHENO:0076779", + "UBERON:0006048", + "HP:0000364", + "UPHENO:0020832", + "UBERON:0005897", + "BFO:0000040", + "UBERON:0011676", + "UBERON:0000075", + "UBERON:0010688", + "MPATH:120", + "GO:0043473", + "UPHENO:0052778", + "UPHENO:0079872", + "UBERON:0002417", + "UPHENO:0075902", + "HP:0000001", + "GO:0007049", + "UBERON:0010000", + "HP:0001507", + "HP:0001871", "HP:0009822", - "UPHENO:0087510", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0006503", - "HP:0002818", + "UBERON:0010538", + "UBERON:0015203", + "UBERON:5006048", + "UPHENO:0001001", + "GO:0050896", + "UBERON:0000475", + "HP:0001000", + "HP:0012130", + "UBERON:0005881", + "UPHENO:0081424", + "UPHENO:0074572", + "UBERON:8450002", + "UPHENO:0081755", + "UPHENO:0020651", + "UPHENO:0020220", + "HP:0000081", + "GO:0050877", + "NCBITaxon:33208", + "UPHENO:0027515", + "UPHENO:0049588", + "GO:0031052", + "UBERON:0013702", + "UBERON:0000916", + "HP:0000028", + "UBERON:0015212", + "UPHENO:0050620", + "UBERON:0004122", + "UBERON:0011216", + "CL:0002422", + "UBERON:0001062", + "MPATH:0", + "UBERON:0007272", + "UPHENO:0002406", + "BFO:0000001", + "HP:0003220", + "UBERON:0000026", + "UBERON:0000463", + "CL:0000225", + "UPHENO:0001003", + "HP:0009142", + "UPHENO:0001002", ], "has_phenotype_closure_label": [ - "Infertility", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Hearing impairment", - "Hearing abnormality", - "Abnormality of the ear", - "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal cellular response to DNA damage stimulus", + "DNA metabolic process", + "response to stimulus", + "abnormal DNA repair", + "Abnormality of DNA repair (HPO)", + "nucleic acid metabolic process", + "DNA damage response", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "heterocycle metabolic process", + "organic substance metabolic process", + "Decreased fertility in males (HPO)", + "primary metabolic process", + "cellular metabolic process", + "cellular response to stimulus", + "Abnormality of the cell cycle (HPO)", + "biological phase", + "Prolonged G2 phase of cell cycle (HPO)", + "cell cycle phase", + "cell cycle process", + "Abnormal ear physiology (HPO)", + "sensory perception of mechanical stimulus", + "abnormal sensory perception", "abnormality of ear physiology", - "Abnormal eye physiology", - "abnormal behavior process", + "decreased qualitatively sensory perception of sound", + "decreased sensory perception of sound", + "Hearing impairment (HPO)", + "ear", + "immaterial entity", "abnormal behavior", - "Abnormal conjugate eye movement", - "Atypical behavior", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Abnormality of body height", - "Growth delay", - "decreased size of the multicellular organism", + "eye movement", + "abnormal response to stimulus", + "kinesthetic behavior", + "behavior process", + "abnormality of camera-type eye physiology", + "anatomical line", + "abnormal behavior process", + "Strabismus (HPO)", + "abnormal size of multicellular organism", "delayed biological_process", - "shape anatomical entity in independent continuant", - "3-D shape anatomical entity", - "concave 3-D shape anatomical entity", - "abnormal renal collecting system", + "decreased size of the multicellular organism", "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm by anatomical site", - "Neoplasm", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", - "abnormal vasculature", - "Vascular skin abnormality", - "Internal hemorrhage", - "Complete duplication of thumb phalanx", - "Male infertility", - "Duplication of thumb phalanx", - "Duplication of bones involving the upper extremities", + "cellular aromatic compound metabolic process", + "delayed growth", + "concave 3-D shape anatomical entity", + "abnormal shape of continuant", + "shape anatomical entity in independent continuant", "shape kidney", - "Duplication of phalanx of hand", - "Duplication of hand bones", - "Abnormality of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "abnormal cellular process", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", + "Duplicated collecting system (HPO)", + "Leukemia (HPO)", + "Hematological neoplasm (HPO)", + "vasculature", + "Abnormality of the vasculature (HPO)", + "Vascular skin abnormality (HPO)", + "pathological phenotype observation", + "Abnormal bleeding (HPO)", + "abnormality of multicellular organism height", + "Internal hemorrhage (HPO)", + "Bruising susceptibility (HPO)", + "cellular nitrogen compound metabolic process", + "Subcutaneous hemorrhage (HPO)", + "abnormality of cardiovascular system physiology", + "Abnormal cardiovascular system physiology (HPO)", + "circulatory system process", + "abnormal vasculature", + "Duplication of hand bones (HPO)", + "Duplication of phalanx of hand (HPO)", + "Abnormal cellular physiology (HPO)", + "Abnormality of metabolism/homeostasis (HPO)", + "negative regulation of macromolecule metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "regulation of cellular process", + "negative regulation of biological process", + "negative regulation of gene expression", + "metabolic process", + "cellular process", "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Small for gestational age", - "Decreased anatomical entity mass", - "abnormality of anatomical entity mass", + "Chromosome breakage (HPO)", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "abnormal cellular process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "protein-containing complex organization", + "response to stress", + "cellular component organization", + "regulation of biological process", + "growth", + "Growth abnormality (HPO)", "decreased multicellular organism mass", - "Decreased multicellular organism mass", - "Abnormality of body weight", - "abnormality of multicellular organism mass", - "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face", - "Abnormality of the orbital region", - "abnormal face morphology", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "Abnormal reticulocyte morphology", - "decreased length of digit", - "Short finger", - "decreased length of manual digit 1", - "Short digit", - "decreased length of anatomical entity in independent continuant", + "Abnormality of thumb phalanx (HPO)", + "Decreased body weight (HPO)", + "entire sense organ system", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "Microphthalmia (HPO)", + "Abnormal eye morphology (HPO)", + "simple eye", + "visual system", + "eye", + "orbital region", + "negative regulation of metabolic process", + "abnormal camera-type eye morphology", + "face", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of the face (HPO)", + "Short stature (HPO)", + "camera-type eye", + "Neoplasm (HPO)", + "Abnormality of globe size (HPO)", + "Abnormality of the eye (HPO)", + "Reticulocytopenia (HPO)", + "decreased size of the anatomical entity in the pectoral complex", "decreased length of manual digit", - "decreased size of the anatomical entity", + "decreased length of digit", + "Short thumb (HPO)", "decreased size of the anatomical entity in the independent continuant", - "abnormally localised testis", + "decreased size of the anatomical entity", + "decreased length of manual digit 1", + "sensory perception", "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal response to stress", - "decreased developmental process", - "Abnormal external genitalia", + "male organism", + "abnormal reproductive process", + "decreased qualitatively developmental process", "decreased qualitatively reproductive process", + "decreased qualitatively biological_process", + "Complete duplication of thumb phalanx (HPO)", + "Abnormality of chromosome stability (HPO)", "abnormal multicellular organismal reproductive process", - "Abnormal male reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormality of internal male genitalia physiology", - "abnormal spermatogenesis", - "Abnormal testis morphology", - "Cryptorchidism", - "abnormal testis morphology", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", - "abnormality of male reproductive system physiology", + "Abnormality of blood circulation (HPO)", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "external male genitalia", + "Abnormal testis morphology (HPO)", "abnormal developmental process", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "abnormal male reproductive system morphology", - "absent gamete", - "abnormal reproductive process", - "Decreased body weight", - "decreased qualitatively developmental process", - "Abnormal internal genitalia", - "absent sperm in the independent continuant", - "changed developmental process rate", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "external genitalia", + "anatomical cluster", + "internal genitalia", + "abnormal reproductive system morphology", + "semen", + "Abnormal spermatogenesis (HPO)", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal developmental process involved in reproduction", + "abnormality of male reproductive system physiology", + "abnormally localised testis", + "abnormal external male genitalia", + "abnormal male reproductive system", + "abnormal gamete generation", + "abnormality of internal male genitalia physiology", + "Pancytopenia (HPO)", + "sexual reproduction", + "anucleate cell", "abnormal male reproductive organ morphology", - "Abnormality of male external genitalia", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "Pancytopenia", - "abnormal platelet", - "abnormal bone marrow cell morphology", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "abnormal forelimb morphology", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", + "bone marrow", + "secretory cell", + "abnormal orbital region", + "bone marrow cell", + "Hearing abnormality (HPO)", + "platelet", + "biogenic amine secreting cell", + "decreased biological_process", + "serotonin secreting cell", + "germ line cell", + "bone cell", + "Abnormality of thrombocytes (HPO)", + "decreased developmental process", + "Absent radius (HPO)", + "sperm", + "Aplasia/Hypoplasia of the radius (HPO)", + "Aplasia involving bones of the extremities (HPO)", + "Abnormality of forearm bone (HPO)", + "Decreased multicellular organism mass", + "Aplasia involving bones of the upper limbs (HPO)", + "absent radius bone in the independent continuant", + "forelimb zeugopod skeleton", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "zeugopod", + "radius endochondral element", + "arm bone", + "radius bone", + "absent forelimb zeugopod bone", + "body part movement", + "absent radius bone in the forelimb", + "absent radius bone", + "Complete duplication of phalanx of hand (HPO)", + "Absent forearm bone (HPO)", + "abnormal forelimb zeugopod", + "absent kidney", + "male gamete generation", + "zeugopodial skeleton", + "Renal agenesis (HPO)", + "non-material anatomical boundary", + "Renal hypoplasia/aplasia (HPO)", + "oxygen accumulating cell", + "Pallor (HPO)", + "Abnormality of the genital system (HPO)", + "nitrogen compound metabolic process", + "abnormal sensory perception of sound", + "abnormal testis morphology", + "reproductive system", + "Puberty and gonadal disorders (HPO)", + "changed developmental process rate", + "neutrophil", + "Hypergonadotropic hypogonadism (HPO)", + "glandular system", + "aplastic forelimb zeugopod bone", + "Abnormality of the endocrine system (HPO)", + "manual digit plus metapodial segment", + "Hypogonadism (HPO)", + "abnormal endocrine system", + "reproductive organ", + "digit 1 digitopodial skeleton", + "gonad", + "Abnormal reticulocyte morphology (HPO)", + "animal cell", + "regional part of brain", + "abnormality of reproductive system physiology", + "eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "increased qualitatively biological_process in independent continuant", + "Macule (HPO)", + "abnormal growth", + "Abnormal internal genitalia (HPO)", + "increased biological_process in skin of body", + "abnormal skin of body morphology", + "multicellular organismal reproductive process", + "Abnormal cell morphology (HPO)", + "Abnormality of the integument (HPO)", + "viscus", + "integumental system", + "abnormal eyeball of camera-type eye", + "abnormal pigmentation in independent continuant", + "Abnormality of the orbital region (HPO)", + "erythrocyte", + "abnormal limb bone morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Abnormality of reproductive system physiology (HPO)", + "increased qualitatively biological_process", + "reticulocyte", + "abnormal central nervous system morphology", + "increased biological_process", + "abnormal metabolic process", + "changed biological_process rate", + "Irregular hyperpigmentation (HPO)", + "absent anatomical entity in the forelimb", + "abnormal skin of body", + "abnormal integument", + "Abnormal renal collecting system morphology (HPO)", + "sense organ", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "circulatory system", + "Abnormality of the cardiovascular system (HPO)", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "head", + "Hyperpigmentation of the skin (HPO)", + "cardiovascular system", + "abnormal cardiovascular system morphology", + "circulatory organ", + "primary circulatory organ", + "vascular system", + "thoracic segment of trunk", + "thoracic segment organ", + "upper limb segment", + "Morphological central nervous system abnormality (HPO)", + "heart", + "abnormal cardiovascular system", + "abnormal anatomical entity morphology in the brain", + "manual digit 1 plus metapodial segment", + "telencephalon", + "Opisthokonta", + "absent anatomical entity", + "central nervous system", + "structure with developmental contribution from neural crest", + "abnormal brain morphology", + "aplasia or hypoplasia of telencephalon", + "Azoospermia (HPO)", + "cranial skeletal system", + "organism", + "Localized skin lesion (HPO)", + "abnormal skull morphology", + "body proper", + "Abnormal renal morphology (HPO)", + "nervous system process", + "Abnormal axial skeleton morphology (HPO)", + "abnormal size of anatomical entity", + "shape anatomical entity", + "digit 1", + "regional part of nervous system", + "abnormal head", + "multicellular organism reproduction", + "Metazoa", + "axial skeleton plus cranial skeleton", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "Abnormal skull morphology (HPO)", + "decreased height of the multicellular organism", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "reproductive process", + "abnormal pigmentation", + "Neoplasm by anatomical site (HPO)", + "phalanx", + "Abnormality of head or neck (HPO)", + "root", + "Abnormality of the ear (HPO)", + "protein-containing material entity", + "subdivision of skeleton", + "biological_process", + "system process", + "Intellectual disability (HPO)", + "multicellular organismal process", + "Abnormal eye physiology (HPO)", + "Neurodevelopmental abnormality (HPO)", + "pigmentation", + "Abnormality of mental function", + "Abnormality of the nervous system (HPO)", + "cognition", + "aplasia or hypoplasia of radius bone", + "main body axis", + "cellular organisms", + "skin of body", + "abnormal biological_process", + "multi-tissue structure", + "organ system subdivision", + "Phenotypic abnormality (HPO)", + "process", + "absent epiphysis of phalanx of manus in the independent continuant", + "abnormality of anatomical entity physiology", + "skeletal element", + "abnormal DNA metabolic process", + "forelimb", + "Abnormal erythroid lineage cell morphology (HPO)", + "abnormal kidney", + "acropodial skeleton", + "abnormal arm", + "Microcephaly (HPO)", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "Anemic pallor (HPO)", + "abnormal bone of pectoral complex morphology", + "Abnormal conjugate eye movement (HPO)", + "system", + "Abnormal hand morphology (HPO)", + "trunk region element", + "pectoral complex", + "abnormal spermatogenesis", + "germ cell", + "segment of manus", "abnormal anatomical entity morphology in the independent continuant", - "Abnormal neutrophil count", - "abnormal sensory perception", - "abnormal manus", - "abnormal manus morphology", - "Abnormality of limb bone", + "digit 1 or 5", + "absent manual digit", + "G2 phase", + "manual digitopodium region", + "gamete", + "organ part", + "cell cycle", + "male reproductive organ", + "reproductive structure", + "manual digit 1 or 5", + "abnormal reproductive system", + "absent epiphysis of phalanx of manus in the phalanx of manus", "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "agenesis of anatomical entity", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of the cell cycle", + "abnormal epiphysis morphology in the independent continuant", + "phenotype", "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Short thumb", - "abnormal manual digit 1 morphology", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", + "abnormal manus", + "absent anatomical entity in the phalanx of manus", + "Generalized abnormality of skin (HPO)", + "Abnormality of bone marrow cell morphology (HPO)", + "zone of long bone", + "arm", + "long bone", + "Thrombocytopenia (HPO)", + "Abnormality of forebrain morphology (HPO)", + "bone of appendage girdle complex", + "Horseshoe kidney (HPO)", + "abnormal postcranial axial skeleton morphology", + "aplasia or hypoplasia of manual digit 1", + "skeleton of manus", + "nervous system", + "skeleton of limb", + "vestibulo-auditory system", + "forelimb endochondral element", + "increased biological_process in independent continuant", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "abnormal response to stress", + "epiphysis of phalanx of manus", + "Abnormality of brain morphology (HPO)", + "chromatin remodeling", + "absent kidney in the independent continuant", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", + "abnormal digit", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", + "abnormal cellular metabolic process", + "acropodium region", + "increased pigmentation in skin of body", + "manual digit 1", + "abnormal radius bone", + "digit plus metapodial segment", + "Abnormal digit morphology (HPO)", + "multi-limb segment region", + "immaterial anatomical entity", + "blood circulation", + "Abnormal reproductive system morphology (HPO)", + "endochondral element", + "subdivision of trunk", + "abdomen element", + "Hypermelanotic macule (HPO)", + "abnormal anatomical entity morphology in the pectoral complex", + "endocrine system", + "skull", + "digit 1 plus metapodial segment", + "trunk", + "multicellular anatomical structure", + "autopodial skeleton", + "abnormal anatomical entity morphology in the skeleton of manus", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Cryptorchidism (HPO)", + "Abnormal immune system morphology (HPO)", + "decreased spermatogenesis", + "manual digit bone", + "decreased anatomical entity mass", + "anatomical entity dysfunction in independent continuant", + "increased pigmentation", + "DNA repair", + "abnormal renal collecting system", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "immune system", + "Abnormal cellular immune system morphology (HPO)", + "myeloid cell", + "abnormal phalanx morphology", + "forelimb bone", + "interphase", + "obsolete cell", + "Abnormal erythrocyte morphology (HPO)", + "epiphysis", + "cavitated compound organ", + "Abnormal heart morphology (HPO)", + "abnormally localised anatomical entity in independent continuant", + "musculoskeletal system", + "Abnormality of limb epiphysis morphology (HPO)", + "compound organ", + "autopod region", + "upper urinary tract", + "abnormally decreased functionality of the anatomical entity", + "skeletal system", + "U-shaped anatomical entity", + "manual digit 1 phalanx endochondral element", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "chromatin organization", + "sensory system", + "manual digit 1 phalanx", + "abnormal upper urinary tract", + "macromolecule metabolic process", + "bone of pectoral complex", + "superficial fascia", + "abnormal skeletal system morphology", + "manual digitopodium bone", + "abnormal craniocervical region", + "Abnormal myeloid leukocyte morphology (HPO)", + "Abnormal upper limb bone morphology (HPO)", + "phalanx endochondral element", + "limb skeleton subdivision", + "hemolymphoid system", + "Decreased anatomical entity mass", + "Abnormal appendicular skeleton morphology (HPO)", + "mesoderm-derived structure", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "Abnormal skeletal morphology (HPO)", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", + "abnormal external genitalia", + "abnormal heart morphology", + "limb long bone", + "decreased length of anatomical entity in independent continuant", + "autopod endochondral element", + "phalanx of manus", + "autopod bone", + "manual digit 1 digitopodial skeleton", + "abnormal eye movement", + "subdivision of organism along appendicular axis", + "absent manual digit 1", + "gamete generation", + "Abnormality of skin morphology (HPO)", + "absent anatomical entity in the limb", + "zone of bone organ", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "motile cell", + "paired limb/fin", + "sensory perception of sound", + "abnormal phalanx of manus morphology", + "abnormal size of eyeball of camera-type eye", + "abnormal face", + "aplastic anatomical entity", + "abnormal biological_process in independent continuant", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "abnormality of multicellular organism mass", + "Short finger (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "eukaryotic cell", + "subdivision of head", + "Abnormality of epiphysis morphology (HPO)", + "Decreased fertility (HPO)", + "integument", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of limb bone morphology (HPO)", + "Abnormality of the hand (HPO)", + "abnormal cell cycle", "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", + "abdominal segment element", + "absent digit", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "abnormal manus morphology", + "cell", "phenotype by ontology source", - "Abnormal finger phalanx morphology", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "forelimb long bone", + "heart plus pericardium", + "skeleton", + "manus bone", + "absent kidney in the renal system", + "Abnormal leukocyte morphology (HPO)", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "Abnormal platelet count (HPO)", + "abnormal manual digit 1 morphology", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "regulation of macromolecule metabolic process", "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal cellular phenotype", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormally decreased number of neutrophil", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", + "continuant", + "Small for gestational age (HPO)", + "Abnormal nervous system physiology (HPO)", + "appendage", + "Abnormality of cardiovascular system morphology (HPO)", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "abnormal epiphysis of phalanx of manus morphology", + "abnormal cellular component organization", + "appendicular skeletal system", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "anatomical collection", + "internal male genitalia", + "occurrent", + "axial skeletal system", + "skeleton of manual digitopodium", + "cellular response to stress", + "absent anatomical entity in the independent continuant", + "autopodial extension", + "absent anatomical entity in the multicellular organism", + "anterior region of body", + "abnormal nervous system", + "male germ cell", + "lateral structure", + "limb", + "endochondral bone", + "absent epiphysis in the independent continuant", + "absent epiphysis", + "Abnormality of thumb epiphysis (HPO)", + "brain", + "increased pigmentation in independent continuant", + "Absent epiphyses of the thumb (HPO)", + "Growth delay (HPO)", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "abnormally decreased functionality of the gonad", + "abnormal limb bone", + "granulocyte", + "Abnormality of the upper urinary tract (HPO)", + "Anemia (HPO)", + "Abnormal thumb morphology (HPO)", + "Absent thumb (HPO)", + "abnormal blood circulation", + "bone of free limb or fin", + "decreased qualitatively sensory perception of mechanical stimulus", + "Aplasia involving forearm bones (HPO)", + "native cell", + "paired limb/fin segment", + "absent anatomical entity in the skeletal system", + "Short digit (HPO)", + "abnormal limb long bone morphology", + "manual digit", + "Abnormal granulocyte count (HPO)", + "Abnormality of the forearm (HPO)", + "postcranial axial skeleton", + "Abnormality of the immune system (HPO)", + "pectoral appendage skeleton", + "nucleate cell", + "skeleton of manual acropodium", + "excretory system", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Abnormality of eye movement (HPO)", + "decreased size of the eyeball of camera-type eye", + "appendage girdle complex", + "Abnormal myeloid cell morphology (HPO)", + "Abnormality of neutrophils (HPO)", + "agenesis of anatomical entity", + "abnormal renal system", + "epigenetic regulation of gene expression", + "abnormally localised kidney", + "Cafe-au-lait spot (HPO)", + "abnormal size of skull", + "Neutropenia (HPO)", + "hematopoietic cell", + "Abnormal granulocyte morphology (HPO)", + "abnormal forelimb zeugopod bone", + "Decreased head circumference (HPO)", + "disconnected anatomical group", + "hematopoietic system", "abnormal forebrain morphology", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal radius bone morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Abnormal cellular immune system morphology", - "abnormal brain morphology", - "decreased spermatogenesis", + "digitopodium region", + "Abnormal neutrophil count (HPO)", + "Male infertility (HPO)", + "abnormal immune system", + "Abnormal external genitalia (HPO)", + "Abnormality of the kidney (HPO)", + "protein-DNA complex organization", + "organ", + "programmed DNA elimination by chromosome breakage", + "organism subdivision", + "Behavioral abnormality (HPO)", + "developmental process involved in reproduction", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "abnormal multicellular organism morphology", + "Infertility (HPO)", "abnormal kidney morphology", - "Abnormality of the genital system", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "Duplication of bones involving the upper extremities (HPO)", + "All (HPO)", + "behavior", + "erythroid lineage cell", + "blood cell", + "abnormal epiphysis morphology in the skeleton of manus", "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal cellular physiology", + "material anatomical entity", + "material entity", "abnormality of nervous system physiology", - "Abnormality of skull size", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Abnormal upper limb bone morphology", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", - "absent digit", - "Absent forearm bone", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "organism substance", + "Abnormal leukocyte count (HPO)", + "pectoral appendage", + "multicellular organism", + "abnormal location of anatomical entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "abnormal long bone morphology", + "entity", + "aplasia or hypoplasia of anatomical entity", + "enucleated reticulocyte", + "forelimb zeugopod bone", "quality", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal digit", - "abnormally localised anatomical entity in independent continuant", + "3-D shape anatomical entity in independent continuant", + "anatomical system", + "abnormal anatomical entity morphology", + "Duplication of thumb phalanx (HPO)", + "appendicular skeleton", + "abdomen", + "male reproductive system", + "limb bone", + "leukocyte", + "renal collecting system", + "Cognitive impairment (HPO)", + "zone of organ", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", "abnormal limb", - "abnormal cell", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "absent manual digit", - "abnormal phenotype by ontology source", - "abnormal genitourinary system", - "Abnormal appendicular skeleton morphology", + "tissue", + "Abnormality of skin pigmentation (HPO)", + "anatomical structure", + "renal system", + "epiphysis of phalanx", + "myeloid leukocyte", + "non-connected functional system", "abnormally localised anatomical entity", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormality of the upper urinary tract", - "absent forelimb zeugopod bone", - "abnormal renal system", - "abnormal anatomical entity topology in independent continuant", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormally decreased number of cell in the independent continuant", - "Neutropenia", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Decreased fertility in males", - "abnormal neutrophil", - "Abnormality of the skin", - "abnormal granulocyte morphology", - "Abnormal leukocyte count", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of leukocyte in the independent continuant", - "continuant", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "Abnormality of brain morphology", - "abnormal immune system", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "abnormal limb bone morphology", - "absent anatomical entity", - "abnormal limb morphology", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", + "anatomical line between pupils", + "Abnormal localization of kidney (HPO)", + "male gamete", + "ectoderm-derived structure", "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormality of the head", - "abnormal bone marrow cell", - "Anemia", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Decreased head circumference", - "abnormal external genitalia", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "decreased anatomical entity mass", - "abnormal long bone morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", "abnormal nervous system morphology", - "abnormal telencephalon morphology", - "abnormal size of skull", - "Abnormal skull morphology", - "absent radius bone in the independent continuant", - "abnormal DNA damage response", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormal morphology of the radius", - "Morphological central nervous system abnormality", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", - "delayed growth", - "abnormal cardiovascular system", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "abnormal integument", - "abnormal biological_process", - "Macule", - "Cafe-au-lait spot", - "increased pigmentation in skin of body", - "abnormal pigmentation", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "increased pigmentation", - "increased pigmentation in independent continuant", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased qualitatively biological_process in independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Aplasia of the fingers", - "Hypergonadotropic hypogonadism", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the endocrine system", - "Hypogonadism", - "Decreased fertility", - "Abnormality of reproductive system physiology", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", - "absent kidney in the independent continuant", - "Anemic pallor", - "abnormal hematopoietic system", - "Renal agenesis", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", + "abnormality of anatomical entity mass", + "bone element", + "kidney", + "individual digit of digitopodial skeleton", + "abnormal internal genitalia", + "somatic cell", + "Abnormal platelet morphology (HPO)", + "Abnormal cerebral morphology (HPO)", + "testis", + "craniocervical region", + "Abnormality of upper limb epiphysis morphology (HPO)", + "3-D shape anatomical entity", + "Abnormal cellular phenotype (HPO)", + "cellular component organization or biogenesis", + "abnormal digit morphology", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the manus", + "Abnormal nervous system morphology (HPO)", + "Abnormality of skull size (HPO)", "absent anatomical entity in the renal system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "increased qualitatively biological_process", - "All", - "Aplasia involving bones of the extremities", - "abnormal cellular metabolic process", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "absent radius bone in the forelimb", - "abnormal forelimb zeugopod bone", - "absent anatomical entity in the skeletal system", - "Aplasia involving bones of the upper limbs", - "abnormal limb long bone morphology", - "absent radius bone", - "Aplasia/Hypoplasia of the radius", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", - "Absent radius", - "Aplasia/hypoplasia involving forearm bones", + "abnormal hematopoietic system", + "subdivision of organism along main body axis", + "aplasia or hypoplasia of skeleton", + "abnormal cellular response to stress", + "independent continuant", + "limb endochondral element", + "anatomical entity", + "thoracic cavity element", + "abnormal phenotype by ontology source", + "Abnormality of the skin (HPO)", + "reproduction", + "Abnormality of limbs (HPO)", + "abnormal telencephalon morphology", + "Ectopic kidney (HPO)", ], "has_phenotype_count": 33, "highlight": None, @@ -1104,23 +1679,18 @@ def autocomplete(): "HP:0040012", "HP:0007018", "HP:0000582", - "HP:0000470", "HP:0008551", "HP:0009777", "HP:0004590", "HP:0002575", "HP:0000238", + "HP:0000470", "HP:0000369", "HP:0000465", "HP:0000957", "HP:0002023", - "HP:0001510", "HP:0000316", - "HP:0001903", - "HP:0000568", - "HP:0000431", - "HP:0005528", - "HP:0000089", + "HP:0001510", "HP:0001776", "HP:0000347", "HP:0003974", @@ -1135,1092 +1705,1868 @@ def autocomplete(): "HP:0000175", "HP:0000054", "HP:0000437", + "HP:0001903", "HP:0000122", "HP:0002188", + "HP:0000568", + "HP:0000431", + "HP:0005528", + "HP:0000089", ], "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", - "Upslanted palpebral fissure", - "Short neck", - "Microtia", - "Absent thumb", - "Hypoplastic sacrum", - "Tracheoesophageal fistula", - "Hydrocephalus", - "Low-set ears", - "Webbed neck", - "Cafe-au-lait spot", - "Anal atresia", - "Growth delay", - "Hypertelorism", - "Anemia", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", - "Renal hypoplasia", - "Bilateral talipes equinovarus", - "Micrognathia", - "Absent radius", - "Intrauterine growth retardation", - "Anotia", - "Aplasia of the uterus", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Esophageal atresia", - "Feeding difficulties", - "Cerebellar hypoplasia", - "Cleft palate", - "Micropenis", - "Depressed nasal tip", - "Unilateral renal agenesis", - "Delayed CNS myelination", + "Chromosome breakage (HPO)", + "Attention deficit hyperactivity disorder (HPO)", + "Upslanted palpebral fissure (HPO)", + "Microtia (HPO)", + "Absent thumb (HPO)", + "Hypoplastic sacrum (HPO)", + "Tracheoesophageal fistula (HPO)", + "Hydrocephalus (HPO)", + "Short neck (HPO)", + "Low-set ears (HPO)", + "Webbed neck (HPO)", + "Cafe-au-lait spot (HPO)", + "Anal atresia (HPO)", + "Hypertelorism (HPO)", + "Growth delay (HPO)", + "Bilateral talipes equinovarus (HPO)", + "Micrognathia (HPO)", + "Absent radius (HPO)", + "Intrauterine growth retardation (HPO)", + "Anotia (HPO)", + "Aplasia of the uterus (HPO)", + "Global developmental delay (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Esophageal atresia (HPO)", + "Feeding difficulties (HPO)", + "Cerebellar hypoplasia (HPO)", + "Cleft palate (HPO)", + "Micropenis (HPO)", + "Depressed nasal tip (HPO)", + "Anemia (HPO)", + "Unilateral renal agenesis (HPO)", + "Delayed CNS myelination (HPO)", + "Microphthalmia (HPO)", + "Wide nasal bridge (HPO)", + "Bone marrow hypocellularity (HPO)", + "Renal hypoplasia (HPO)", ], "has_phenotype_closure": [ - "UPHENO:0050406", - "UPHENO:0000552", + "HP:0000089", + "UPHENO:0075182", + "UPHENO:0019487", + "UPHENO:0069110", + "UPHENO:0081210", + "CL:0002092", + "UBERON:0002371", + "UPHENO:0002948", + "CL:0001035", + "HP:0012145", + "UBERON:0002405", + "UPHENO:0006147", + "HP:0000422", + "UPHENO:0006161", + "HP:0100887", + "HP:0008056", + "UPHENO:0080209", + "UPHENO:0069523", + "HP:0000568", + "GO:0007272", + "UPHENO:0050372", + "UPHENO:0084012", + "HP:0002188", + "UPHENO:0000553", + "GO:0007417", + "GO:0007399", + "GO:0042552", + "GO:0010001", + "GO:0021782", + "GO:0008366", + "GO:0030154", + "GO:0048468", + "UPHENO:0062515", + "GO:0022010", + "UPHENO:0061854", "HP:0012448", "UPHENO:0084007", - "UPHENO:0050372", - "HP:0012447", + "UPHENO:0083952", + "GO:0048869", + "GO:0048709", + "GO:0014003", + "HP:0011400", "UPHENO:0062527", - "UPHENO:0008593", - "UPHENO:0088168", - "UPHENO:0082467", - "UPHENO:0041458", + "UPHENO:0050406", + "UPHENO:0076779", + "UPHENO:0026980", + "UBERON:0000916", + "UPHENO:0025100", + "UPHENO:0025211", + "UBERON:0000489", + "HP:0000079", + "UBERON:8450002", + "HP:0000077", + "UBERON:0001008", + "UBERON:0002113", + "UBERON:0011143", + "HP:0000104", + "HP:0012130", + "GO:0048731", + "HP:0001871", + "UBERON:0002193", + "HP:0025461", + "UPHENO:0081585", + "HP:0020047", + "HP:0001877", + "CL:0002371", + "UPHENO:0004459", + "UPHENO:0021753", + "CL:0000548", + "CL:0000232", + "CL:0000329", + "UPHENO:0041203", + "HP:0000366", "HP:0000436", - "UPHENO:0000553", - "UPHENO:0068843", - "UPHENO:0081095", - "HP:0000036", - "UPHENO:0002597", + "UBERON:0002268", + "UPHENO:0082454", + "UBERON:0012128", + "UBERON:0007827", + "UBERON:0034929", + "UPHENO:0082467", + "UPHENO:0021517", + "UPHENO:0041098", + "UPHENO:0002907", + "UPHENO:0021095", + "UBERON:0003135", + "UBERON:0011250", + "UBERON:0003101", + "HP:0003241", + "UBERON:0012357", "HP:0008736", + "UPHENO:0002597", + "UPHENO:0002595", + "UPHENO:0020953", + "CL:0000255", "HP:0000054", - "HP:0003241", - "UPHENO:0033572", - "HP:0000174", - "HP:5201015", - "HP:0000202", - "UPHENO:0081601", - "UPHENO:0081099", - "HP:0001321", - "UPHENO:0087548", + "NCBITaxon:2759", + "UBERON:0000079", + "UPHENO:0082356", + "NBO:0000313", + "UPHENO:0041041", + "UPHENO:0081320", + "UPHENO:0075998", + "UBERON:0002428", + "UPHENO:0076786", + "HP:0000163", + "HP:0009122", + "UPHENO:0076760", + "UBERON:0003216", "UPHENO:0033635", - "HP:0002977", - "HP:0001317", - "UPHENO:0068984", + "UPHENO:0076785", + "UBERON:0000167", + "UBERON:0000464", + "UBERON:0003606", + "HP:0000202", + "HP:0000175", + "UBERON:0002616", + "UBERON:0011158", + "UBERON:0004733", + "HP:0011283", + "UPHENO:0020013", + "HP:0011282", + "UBERON:0002028", + "HP:0006496", + "NCBITaxon:33154", + "NCBITaxon:131567", "UPHENO:0080089", - "HP:0011968", + "UBERON:0000481", "HP:0011458", - "HP:0000811", "HP:0025032", - "UPHENO:0063603", - "UPHENO:0063639", - "HP:0002589", - "HP:0003221", - "UPHENO:0002598", - "UPHENO:0003055", - "UPHENO:0020950", - "HP:0000078", - "UPHENO:0087974", + "UPHENO:0020647", + "UPHENO:0076800", + "HP:0012758", + "HP:0000001", + "UPHENO:0081119", + "UBERON:0005156", + "HP:0012243", "HP:0010460", - "HP:0000151", - "UPHENO:0025708", - "UPHENO:0009305", - "UPHENO:0026984", - "UPHENO:0052778", + "UBERON:0000995", + "HP:0001939", + "HP:0000812", "UPHENO:0005642", - "UPHENO:0080382", - "UPHENO:0080187", - "HP:0002973", - "HP:0040070", - "UPHENO:0086956", - "UPHENO:0020013", - "HP:0006503", + "UPHENO:0025875", + "UPHENO:0002598", + "HP:0001511", + "UBERON:0000993", + "UBERON:0000062", + "UBERON:0002398", + "NCBITaxon:33208", + "UPHENO:0005170", + "UPHENO:0041458", + "GO:0031052", + "HP:0000008", + "UBERON:0004122", + "UBERON:0000990", + "HP:0000130", + "UPHENO:0076766", + "HP:0008684", + "HP:0005561", + "UPHENO:0003058", + "UBERON:0003278", + "UBERON:0000474", + "UPHENO:0026984", + "UPHENO:0026954", + "UPHENO:0025708", + "UBERON:0012151", + "GO:0007275", + "UPHENO:0002837", + "UPHENO:0075655", + "UBERON:0000165", + "UPHENO:0050108", + "UPHENO:0052178", + "GO:0022008", + "GO:0009790", + "UBERON:0034925", + "HP:0001034", + "GO:0032502", + "UPHENO:0080393", + "UPHENO:0012541", + "UBERON:0003133", + "GO:0031323", + "HP:0000925", + "OBI:0100026", "UPHENO:0081511", - "UPHENO:0087501", - "HP:0009822", - "HP:0040072", - "HP:0000437", - "UPHENO:0079872", - "UPHENO:0002751", - "UPHENO:0050034", - "UPHENO:0009341", - "UPHENO:0076718", - "HP:0009825", - "UPHENO:0025945", + "UBERON:0011584", + "UBERON:0015212", + "HP:0006503", + "HP:0011017", "HP:0003953", - "UPHENO:0025211", - "HP:0012758", + "HP:0000377", + "HP:0009823", + "HP:0006501", + "UBERON:5002544", + "UPHENO:0074228", + "UPHENO:0075944", + "HP:0002973", + "HP:0034261", + "HP:0012759", + "HP:0002818", + "UPHENO:0080662", + "UBERON:0002386", + "UBERON:0015001", + "UBERON:0008785", + "HP:0040072", + "UBERON:0004387", + "UPHENO:0002719", "UPHENO:0009399", - "HP:0009118", + "UPHENO:0025945", + "UBERON:0005178", + "UPHENO:0021474", + "UBERON:0010703", + "UPHENO:0002751", + "UBERON:0004288", + "HP:0008771", + "UBERON:0003457", + "UBERON:0004756", + "UBERON:0002090", + "UPHENO:0069391", + "UBERON:0000075", "HP:0011821", - "HP:0010461", - "UPHENO:0003053", - "HP:0000929", - "HP:0000277", - "UPHENO:0002443", - "UPHENO:0069249", + "UPHENO:0020950", + "HP:0000598", + "UPHENO:0080165", + "HP:0009118", "UPHENO:0080087", - "UPHENO:0081314", - "UPHENO:0076800", - "UPHENO:0080158", - "UPHENO:0081786", - "UPHENO:0083646", + "UBERON:0003113", "HP:0031816", - "UPHENO:0086932", - "UPHENO:0088116", - "UPHENO:0041203", - "HP:0002814", + "UBERON:0011156", + "UBERON:0001423", + "UPHENO:0068843", + "UPHENO:0060026", + "UBERON:0003462", + "UBERON:0003126", + "UBERON:0001684", + "UPHENO:0081788", + "UPHENO:0081601", + "HP:0002715", + "HP:0001760", + "UPHENO:0002828", + "UPHENO:0075195", + "UBERON:0010364", + "HP:0000478", + "UPHENO:0069249", + "NBO:0000644", + "UBERON:0002514", + "UBERON:0001895", + "UBERON:0000073", + "UBERON:0004768", + "UBERON:0011595", + "UPHENO:0005597", + "UBERON:0001710", + "UBERON:0001708", + "UBERON:0003129", + "UPHENO:0083646", + "HP:0100886", + "UPHENO:0026128", + "UBERON:0010222", + "UBERON:0001474", + "HP:0000277", + "UPHENO:0002708", + "UPHENO:0019449", + "UPHENO:0081566", + "UPHENO:0026506", + "HP:0009116", + "UBERON:0015025", + "HP:0005656", + "NCBITaxon:6072", + "UBERON:0008340", + "UBERON:0002103", + "HP:0001883", "HP:0001776", - "UPHENO:0086628", + "UBERON:0010709", + "UPHENO:0050034", "UPHENO:0003070", - "UPHENO:0081575", + "UBERON:0000978", + "UBERON:0004053", "HP:0001762", - "HP:0010935", - "UPHENO:0082454", - "UPHENO:0081566", - "UPHENO:0075182", - "HP:0000089", - "HP:0000079", - "UPHENO:0052178", - "HP:0008678", - "HP:0012210", - "UPHENO:0081436", - "UPHENO:0075902", - "UPHENO:0080393", - "HP:0012145", - "UPHENO:0081788", - "UPHENO:0087123", - "UPHENO:0085195", - "UPHENO:0026954", - "UPHENO:0087339", - "HP:0002188", - "HP:0002715", - "UPHENO:0002948", - "UPHENO:0087355", - "UPHENO:0087585", - "UPHENO:0006147", - "UPHENO:0087278", - "UPHENO:0050108", - "UPHENO:0085144", - "HP:0000309", - "HP:0000431", - "UPHENO:0081800", - "HP:0000366", - "HP:0000422", - "HP:0008056", - "UPHENO:0069523", - "HP:0000568", - "UPHENO:0075219", - "HP:0001871", - "UPHENO:0084928", - 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+ "UBERON:0010314", + "UPHENO:0019987", + "BFO:0000003", + "GO:0009892", + "HP:0001172", + "UPHENO:0084457", + "HP:0011314", + "UBERON:0011138", + "GO:0043933", + "UBERON:0002471", + "UBERON:0010323", + "UBERON:0000479", + "UPHENO:0000543", + "UPHENO:0076718", + "GO:0009987", + "UPHENO:0049873", + "HP:0025354", + "GO:0005623", + "HP:0003220", + "UPHENO:0075878", + "GO:0031326", + "UBERON:0000026", + "BFO:0000040", + "UPHENO:0080158", + "UPHENO:0054957", + "UPHENO:0001005", + "UPHENO:0027515", + "GO:0071840", + "UPHENO:0081436", + "UBERON:0010230", + "UPHENO:0081466", + "UPHENO:0076703", + "HP:0005607", + "GO:0019222", + "HP:0002813", + "GO:0010556", + "UPHENO:0026509", + "UBERON:0004708", + "UPHENO:0002642", + "GO:0071824", + "UPHENO:0082875", + "HP:0007360", + "UBERON:0005172", + "UPHENO:0076723", + "HP:0011968", + "HP:0000369", + "CL:0000000", + "HP:0012210", + "UPHENO:0005986", + "BFO:0000001", + "HP:0009115", + "UBERON:0006314", + "UPHENO:0014240", + "UBERON:0000153", + "UBERON:0011159", + "HP:0002575", + "UPHENO:0002844", + "UBERON:0011676", + "HP:0000153", "HP:0002692", - "UPHENO:0076730", - "UPHENO:0050121", - "UPHENO:0074572", - "UPHENO:0025875", - "UPHENO:0080377", - "UPHENO:0080221", - "UPHENO:0025100", - "HP:0025668", - "UPHENO:0076739", - "BFO:0000020", - "UPHENO:0059829", + "HP:0000357", + "UPHENO:0080110", + "GO:0031324", + "UBERON:0000467", + "UBERON:0001691", + "UBERON:0010000", + "GO:0010629", + "UBERON:0000468", + "BFO:0000015", + "UPHENO:0027467", + "UBERON:0002553", + "UBERON:0003466", + "UBERON:0005913", + "UPHENO:0063599", + "HP:0000122", + "UPHENO:0002536", + "UBERON:0000989", + "HP:0000707", + "UPHENO:0049700", + "UBERON:0000475", ], "has_phenotype_closure_label": [ - "delayed central nervous system myelination", + "decreased size of the kidney", + "abnormal size of kidney", + "kidney hypoplasia", + "bone marrow", + "Abnormality of the immune system (HPO)", + "Bone marrow hypocellularity (HPO)", + "bone marrow cell", + "abnormal immune system", + "nasal bridge", + "increased width of nasal bridge", + "increased width of the anatomical entity in independent continuant", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Microphthalmia (HPO)", + "Abnormality of globe size (HPO)", + "Delayed CNS myelination (HPO)", + "Delayed myelination (HPO)", + "delayed biological_process in central nervous system", + "gliogenesis", + "abnormal central nervous system myelination in independent continuant", + "abnormal myelination in independent continuant", + "abnormal biological_process in nervous system", + "snout", + "abnormal myelination", + "oligodendrocyte differentiation", + "myelination", + "glial cell differentiation", + "glial cell development", + "axon ensheathment", + "abnormal central nervous system myelination", + "ensheathment of neurons", + "cellular developmental process", + "delayed biological_process in independent continuant", + "absent anatomical entity in the renal system", + "Abnormality of the urinary system (HPO)", + "renal system", + "excretory system", + "abdomen element", + "cavitated compound organ", + "Unilateral renal agenesis (HPO)", + "abnormal kidney", "absent kidney", - "absent kidney in the independent continuant", - "Unilateral renal agenesis", - "Abnormal nasal tip morphology", - "abnormal external nose morphology", + "Renal agenesis (HPO)", + "abdomen", + "abnormal kidney morphology", + "Renal hypoplasia/aplasia (HPO)", + "abnormal upper urinary tract", + "upper urinary tract", + "absent kidney in the renal system", + "Abnormality of the upper urinary tract (HPO)", + "abnormal renal system", + "Abnormal renal morphology (HPO)", + "native cell", + "hemolymphoid system", + "hematopoietic system", + "erythroid lineage cell", + "eukaryotic cell", + "oxygen accumulating cell", + "Abnormal cell morphology (HPO)", + "myeloid cell", + "blood cell", + "Abnormal erythroid lineage cell morphology (HPO)", + "animal cell", + "erythrocyte", + "somatic cell", + "Abnormal myeloid cell morphology (HPO)", + "Abnormality of the nose (HPO)", + "Abnormal nasal morphology (HPO)", + "anatomical point", + "curvature anatomical entity", + "Abnormality of the nasal tip (HPO)", + "abnormal nose tip", + "curvature anatomical entity in independent continuant", + "nose", + "flat anatomical entity in independent continuant", + "abnormal male reproductive organ morphology", + "male organism", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "penis", + "Abnormal penis morphology (HPO)", + "Micropenis (HPO)", + "external male genitalia", + "external genitalia", + "Growth abnormality (HPO)", + "abnormal external genitalia", "decreased size of the penis", - "Abnormal external genitalia", - "Micropenis", - "abnormal external male genitalia morphology", + "abnormal nose morphology", + "Hypoplastic male external genitalia (HPO)", + "abnormal penis", + "external male genitalia hypoplasia", "abnormal male reproductive system", - "penis hypoplasia", - "abnormal external male genitalia", - "abnormal male reproductive system morphology", - "abnormal male reproductive organ morphology", - "Abnormality of male external genitalia", - "abnormal incomplete closing of the secondary palate", - "Craniofacial cleft", - "abnormal incomplete closing of the anatomical entity", - "External genital hypoplasia", - "Abnormal palate morphology", + "hard palate", + "absent anatomical entity", + "roof of mouth", + "abnormal location of anatomical entity", "abnormal oral cavity morphology", - "abnormal opening of the anatomical entity", - "Abnormal cerebellum morphology", - "Abnormality of the male genitalia", - "decreased size of the cerebellum", - "Aplasia/Hypoplasia of the cerebellum", - "Abnormal hindbrain morphology", - "abnormal anatomical entity morphology in the brain", + "Abnormality of the midface (HPO)", + "abnormal midface", + "Orofacial cleft", + "pectoral appendage", + "Abnormality of the neck (HPO)", + "abnormal incomplete closing of the anatomical entity", + "abnormal secondary palate morphology", + "Hypertelorism (HPO)", + "hindbrain", + "cerebellum", + "Opisthokonta", + "Abnormality of blood and blood-forming tissues (HPO)", + "regional part of brain", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "Abnormal external genitalia (HPO)", + "Global developmental delay (HPO)", + "abnormal hindbrain morphology", + "transudate", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "absent radius bone in the independent continuant", + "Eukaryota", + "alimentary part of gastrointestinal system", + "Aplasia/Hypoplasia of the cerebellum (HPO)", "abnormal cerebellum morphology", - "Abnormality of digestive system physiology", + "root", + "aplasia or hypoplasia of cerebellum", + "abnormal metencephalon morphology", "abnormality of digestive system physiology", + "external soft tissue zone", + "absent anatomical entity in the ear", + "Esophageal atresia (HPO)", "alimentary part of gastrointestinal system atresia", - "Neurodevelopmental delay", - "Neurodevelopmental abnormality", - "abnormal female reproductive system", - "Abnormal morphology of female internal genitalia", - "Abnormality of the genital system", - "abnormal female reproductive system morphology", + "Neurodevelopmental delay (HPO)", + "Neurodevelopmental abnormality (HPO)", + "Abnormal digit morphology (HPO)", + "Abnormality of the lower limb (HPO)", + "Abnormality of the genital system (HPO)", + "abnormal anatomical entity morphology in the brain", "abnormal internal female genitalia morphology", - "absent uterus", - "abnormal female reproductive organ morphology", - "Aplasia/hypoplasia of the uterus", + "female organism", + "Abnormality of male external genitalia (HPO)", + "chromatin remodeling", + "abnormal genitourinary system", "absent anatomical entity in the reproductive system", - "Aplasia of the uterus", - "Abnormality of the uterus", - "aplasia or hypoplasia of uterus", - "Anotia", - "absent external ear in the independent continuant", - "decreased developmental process", + "uterus", + "abnormal reproductive system morphology", + "Abnormality of the cerebrospinal fluid (HPO)", + "absent uterus", + "Abnormal erythrocyte morphology (HPO)", + "abnormal internal genitalia", + "Abnormal eye morphology (HPO)", + "oviduct", + "subdivision of oviduct", + "decreased biological_process", + "Aplasia of the uterus (HPO)", + "absent external ear", + "multicellular organism development", + "Anotia (HPO)", + "agenesis of anatomical entity", + "absent external ear in the head", + "visual system", + "limb bone", + "thoracic segment organ", + "absent anatomical entity in the head", + "decreased qualitatively developmental process", + "decreased qualitatively biological_process", + "abnormal embryo development", + "oligodendrocyte development", + "developmental process", "decreased embryo development", - "abnormal developmental process", - "aplasia or hypoplasia of cerebellum", + "absent manual digit", + "changed embryo development rate", + "anatomical structure development", + "Abnormality of hindbrain morphology (HPO)", + "abnormal anatomical entity morphology", + "Abnormality of long bone morphology (HPO)", "changed developmental process rate", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "Abnormal upper limb bone morphology", - "Absent radius", - "Abnormal morphology of the radius", - "Aplasia/Hypoplasia of the radius", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal long bone morphology", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "absent radius bone in the forelimb", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormal jaw morphology", - "aplasia or hypoplasia of mandible", - "cerebellum hypoplasia", - "Abnormal skull morphology", - "Abnormality of the mouth", - "abnormal head bone morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal jaw skeleton morphology", + "decreased developmental process", + "cellular component organization or biogenesis", + "Absent radius (HPO)", + "Aplasia involving forearm bones (HPO)", "bone element hypoplasia in face", - "abnormal embryo development", - "abnormal mouth morphology", - "shape nose tip", + "Aplasia involving bones of the extremities (HPO)", + "Abnormal palate morphology (HPO)", + "esophagus atresia", + "Abnormality of forearm bone (HPO)", + "digit 1", + "upper jaw region", + "Abnormal oral morphology (HPO)", + "forelimb zeugopod skeleton", + "Abnormality of the radius (HPO)", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", + "aplastic forelimb zeugopod bone", + "abnormal respiratory tube morphology", + "radius endochondral element", + "increased biological_process", + "arm bone", + "abnormal anatomical entity morphology in the skeleton of manus", + "absent radius bone in the forelimb", + "absent anatomical entity in the forelimb", + "phalanx endochondral element", + "absent radius bone", + "Absent forearm bone (HPO)", + "dermal bone", + "jaw skeleton", + "abnormal digit", + "facial bone", + "body proper", + "Abnormality of the digestive system (HPO)", + "abnormal forelimb zeugopod", + "Abnormality of the ear (HPO)", + "dermal skeletal element", "anatomical entity hypoplasia in face", - "abnormal facial skeleton morphology", - "Bilateral talipes equinovarus", - "Talipes equinovarus", - "Abnormality of the lower limb", - "Abnormal foot morphology", - "abnormal genitourinary system", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "delayed biological_process in independent continuant", - "Renal hypoplasia/aplasia", - "abnormal renal system morphology", - "Abnormality of the genitourinary system", - "kidney hypoplasia", - "abnormal renal system", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "Abnormal renal morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "external male genitalia hypoplasia", - "Bone marrow hypocellularity", - "abnormal immune system", - "Abnormality of the immune system", - "abnormal bone marrow cell morphology", - "Abdominal symptom", - "Wide nasal bridge", - "abnormal nose", - "abnormal midface morphology", - "abnormal nose morphology", - "increased width of the anatomical entity in independent continuant", - "increased width of anatomical entity", - "Abnormal nasal bridge morphology", - "abnormal size of eyeball of camera-type eye", - "Abnormal myelination", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal penis morphology", - "Abnormality of globe size", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal myelination", - "Depressed nasal tip", - "abnormal erythrocyte morphology", - "Abnormal myeloid cell morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal bone marrow cell", - "Anemia", - "Esophageal atresia", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", - "Abnormality of the urinary system", - "increased length of the anatomical entity", - "curvature anatomical entity", + "trachea", + "Abnormal hand morphology (HPO)", + "mouth", + "bone of lower jaw", + "primary subdivision of skull", + "face", + "decreased size of the external male genitalia", + "absent kidney in the independent continuant", + "abnormal skull morphology", + "head bone", + "Abnormality of limbs (HPO)", + "Aplasia/Hypoplasia of facial bones (HPO)", + "decreased size of the eyeball of camera-type eye", + "Abnormal skull morphology (HPO)", + "Abnormality of the female genitalia (HPO)", + "pelvic region of trunk", + "Abnormality of the mouth (HPO)", + "abnormal programmed DNA elimination by chromosome breakage", + "digitopodium bone", + "organism substance", + "reproductive organ", + "manual digit phalanx endochondral element", + "Aplasia/Hypoplasia involving the vertebral column (HPO)", + "jaw region", + "neural crest-derived structure", + "facial skeleton", + "skull", + "Abnormal jaw morphology (HPO)", + "epiphysis of phalanx of manus", + "abnormal mandible morphology", + "regulation of macromolecule biosynthetic process", + "anatomical space", + "abnormal respiratory system", + "oral cavity", + "aplasia or hypoplasia of mandible", + "Aplasia involving bones of the upper limbs (HPO)", + "dentary", + "abnormal location of external ear", + "hindlimb", + "Aplasia/Hypoplasia of the radius (HPO)", + "pelvic complex", + "organism", + "ventricle of nervous system", + "abnormal biological_process in independent continuant", + "Gastrointestinal atresia (HPO)", "abnormal pes morphology", - "abnormal upper urinary tract", - "Abnormality of the eye", - "abnormal nasal bridge morphology", - "Hypertelorism", + "negative regulation of macromolecule biosynthetic process", + "ear", + "Cerebellar hypoplasia (HPO)", + "leg", + "pes", + "Abnormal foot morphology (HPO)", + "skeletal system", + "delayed biological_process", + "growth", + "Abnormal hard palate morphology (HPO)", + "delayed growth", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", "increased anatomical entity length in independent continuant", - "absent external ear", + "absent epiphysis in the independent continuant", "abnormal location of eyeball of camera-type eye", - "abnormal growth", - "delayed growth", - "Growth delay", - "delayed biological_process", - "absent anatomical entity in the renal system", - "Abnormality of the upper limb", - "absent anatomical entity in the ear", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "abnormal manual digit morphology in the independent continuant", - "Abnormality of digestive system morphology", - "abnormal limb", - "abnormal behavior", - "decreased size of the kidney", - "Abnormal eye morphology", - "external ear hypoplasia", - "Hypoplastic sacrum", - "Abnormality of the respiratory system", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "abnormal fused sacrum morphology", - "Abnormality of the ear", - "Intrauterine growth retardation", - "changed embryo development rate", - "abnormal manual digit 1 morphology", - "abnormal external ear", - "Talipes", - "abnormal cerebrospinal fluid morphology", - "decreased length of anatomical entity", + "dermal skeleton", + "immaterial entity", + "increased size of the anatomical entity", + "non-material anatomical boundary", + "bone of appendage girdle complex", + "skeleton of lower jaw", + "increased length of the anatomical line between pupils", "aplasia or hypoplasia of ear", - "Aplasia/Hypoplasia of the ear", - "abnormal neck morphology", - "abnormal forelimb morphology", - "esophagus atresia", - "absent radius bone", - "anatomical entity hypoplasia", - "absent anatomical entity in the head", - "decreased biological_process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "flattened anatomical entity in independent continuant", - "abnormal palpebral fissure", - "shape anatomical entity in independent continuant", - "aplasia or hypoplasia of anatomical entity", - "abnormal arm", - "flat anatomical entity in independent continuant", - "absent anatomical entity in the forelimb", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "Abnormal pinna morphology", - "abnormal hindlimb morphology", - "increased pigmentation in skin of body", - "anatomical entity hypoplasia in independent continuant", - "Abnormality of the musculoskeletal system", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplastic forelimb zeugopod bone", - "aplasia or hypoplasia of fused sacrum", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "Abnormal mandible morphology", - "Abnormal midface morphology", - "absent anatomical entity in the limb", - "Orofacial cleft", - "Morphological abnormality of the gastrointestinal tract", - "decreased length of anatomical entity in independent continuant", - "curvature anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal external ear morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "abnormal skull morphology", - "abnormal response to stimulus", - "Microphthalmia", - "abnormal skeletal system", - "Abnormal neck morphology", - "aplasia or hypoplasia of manual digit 1", - "abnormal vertebral column", - "fused sacrum hypoplasia", - "abnormal number of anatomical enitites of type anatomical entity", - "aplasia or hypoplasia of vertebral column", - "abnormal head", - "abnormally increased number of anatomical entity in the independent continuant", - "Abnormality of the face", - "Abnormal anus morphology", - "abnormal snout morphology", - "abnormal face", - "Aplasia/Hypoplasia of the thumb", - "quality", - "Slanting of the palpebral fissure", - "abnormal cellular process", - "abnormal biological_process in central nervous system", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Hypoplastic male external genitalia", - "Abnormal cell morphology", - "phenotype", - "abnormal hindbrain morphology", - "absent digit", - "abnormal behavior process", - "abnormal cell", - "abnormal reproductive system", - "Abnormality of head or neck", - "entity", - "abnormal size of kidney", - "Abnormal eyelid morphology", - "mandible hypoplasia", - "Microtia", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Atypical behavior", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Morphological central nervous system abnormality", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal craniocervical region morphology", - "continuant", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormal forearm morphology", - "decreased size of the mandible", - "abnormal anatomical entity", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormality of mental function", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased size of the external male genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of the palpebral fissures", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormality of the outer ear", + "anatomical line", + "hematopoietic cell", + "Abnormality of the eye (HPO)", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "anus atresia", + "Abnormality of limb epiphysis morphology (HPO)", + "anatomical entity atresia", + "Abnormality of the anus (HPO)", + "Anorectal anomaly (HPO)", + "Anal atresia (HPO)", + "abnormal head bone morphology", "abnormal leg", - "Attention deficit hyperactivity disorder", - "abnormal digestive system", + "Intrauterine growth retardation (HPO)", + "abnormal anus morphology", + "eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "Abnormal cerebral ventricle morphology (HPO)", + "Abnormality of skin morphology (HPO)", + "increased qualitatively biological_process in independent continuant", + "integument", + "lower respiratory tract", + "abnormal pigmentation", + "increased pigmentation in independent continuant", + "pigmentation", + "abnormal anus", + "Macule (HPO)", + "manual digitopodium bone", + "increased biological_process in independent continuant", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "abnormal eyeball of camera-type eye", + "abnormal mouth", + "abnormal pigmentation in independent continuant", + "Abnormality of the skin (HPO)", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "zeugopodial skeleton", + "mandible", + "abnormal hematopoietic system", + "Low-set ears (HPO)", + "increased pigmentation", + "multi organ part structure", + "Cleft palate (HPO)", + "Irregular hyperpigmentation (HPO)", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "external nose", + "Localized skin lesion (HPO)", "abnormal integument", - "flat nose tip", - "Micrognathia", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "abnormal metabolic process", - "abnormal programmed DNA elimination by chromosome breakage", - "increased width of nasal bridge", - "aplasia or hypoplasia of external ear", - "abnormal biological_process", - "Abnormal tracheobronchial morphology", - "Positional foot deformity", - "Abnormal cerebral ventricle morphology", - "abnormal organelle organization", - "Abnormal CNS myelination", - "abnormal development of anatomical entity", - "abnormal digit", - "Aplasia/Hypoplasia of facial bones", - "decreased size of the external ear", - "Abnormality of the hand", - "absent external ear in the head", + "Webbed neck (HPO)", + "negative regulation of cellular metabolic process", + "Decreased anatomical entity position", + "cell differentiation", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "abnormal location of ear", + "Abnormal neck morphology (HPO)", + "cervical region of vertebral column", + "cervical vertebra", + "abnormal nasal bridge morphology", + "dorsal part of neck", + "vertebral element", + "digestive system element", + "trunk or cervical vertebra", + "neck bone", + "Abnormality of the external nose (HPO)", + "Anemia (HPO)", + "cervical region", + "Feeding difficulties (HPO)", + "abnormal mouth morphology", "decreased length of neck", - "abnormal central nervous system myelination in independent continuant", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Abnormality of the nose", + "neck", + "Hydrocephalus (HPO)", + "internal genitalia", "abnormal neck", - "abnormal brain ventricle morphology", - "abnormal nitrogen compound metabolic process", - "Abnormality of the head", - "abnormal anus", - "abnormal face morphology", - "abnormal digestive system morphology", - "abnormal myeloid cell morphology", - "increased biological_process", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal nervous system", - "Neoplasm", - "Anal atresia", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "Abnormal nervous system physiology", - "Feeding difficulties", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal esophagus morphology", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "delayed biological_process in central nervous system", - "changed biological_process rate", + "membrane bone", + "Abnormality of globe location (HPO)", + "abnormal skeletal system", + "Abnormal nervous system morphology (HPO)", + "organ component layer", + "cerebrospinal fluid", + "autopod bone", + "cerebellum hypoplasia", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal external male genitalia morphology", + "abnormal nervous system morphology", + "abnormal female reproductive system", + "anatomical structure", + "abnormally increased number of anatomical entity in the independent continuant", + "aplasia or hypoplasia of uterus", + "abnormal cerebrospinal fluid", + "abnormal metabolic process", + "abnormal brain morphology", + "penis hypoplasia", + "bone of pectoral complex", + "abnormal developmental process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormally increased number of anatomical entity", + "abnormal central nervous system morphology", + "facial bone hypoplasia", + "abnormal axon ensheathment in central nervous system in independent continuant", + "aplasia or hypoplasia of manual digit", + "Decreased external ear position", + "tube", + "respiratory tract", + "Metazoa", + "abnormal tracheobronchial tree morphology", + "Abnormal internal genitalia (HPO)", + "abnormal growth", + "absent anatomical entity in the multicellular organism", "increased biological_process in skin of body", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal cellular phenotype", - "Irregular hyperpigmentation", - "Hydrocephalus", - "absent radius bone in the independent continuant", - "Upslanted palpebral fissure", - "abnormal mouth", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Absent forearm bone", - "abnormal ocular adnexa morphology", - "flattened anatomical entity", - "Aplasia involving forearm bones", - "Abnormality of globe location", - "Abnormality of skin pigmentation", - "Abnormality of the female genitalia", - "abnormal primary metabolic process", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "Hypoplasia of penis", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal mandible morphology", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal cervical vertebra", + "Abnormal cerebellum morphology (HPO)", + "respiratory system", + "increased width of anatomical entity", + "Hypoplastic facial bones (HPO)", + "respiratory tube", + "Tracheoesophageal fistula (HPO)", + "kidney", + "respiratory airway", + "abnormal trachea morphology", + "upper digestive tract", + "Abnormal ocular adnexa morphology (HPO)", + "anatomical cavity", + "thoracic cavity element", + "increased qualitatively biological_process", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal alimentary part of gastrointestinal system", + "abnormal external male genitalia", + "digestive tract", + "integumental system", + "viscus", + "voluntary movement behavior phenotype", + "esophagus", + "attention behavior", + "decreased length of anatomical entity", + "quality", + "abnormal digestive system morphology", + "Abnormality of the vertebral column (HPO)", + "thoracic segment of trunk", + "Abnormal finger phalanx morphology (HPO)", + "Depressed nasal tip (HPO)", + "anatomical line between pupils", + "system development", + "ocular adnexa", + "abnormal digestive system", "aplastic manual digit 1", - "agenesis of anatomical entity", - "Delayed CNS myelination", - "Hyperactivity", - "aplasia or hypoplasia of manual digit", - "Aplasia/Hypoplasia of fingers", + "subdivision of digestive tract", + "endoderm-derived structure", + "negative regulation of cellular biosynthetic process", + "Abnormality of the respiratory system (HPO)", + "dorsal region element", + "axon ensheathment in central nervous system", + "aplasia or hypoplasia of fused sacrum", + "Aplasia/hypoplasia of the uterus (HPO)", + "abnormal epiphysis morphology in the independent continuant", + "Hypoplastic sacrum (HPO)", + "abnormal craniocervical region", + "pelvic region element", + "male reproductive organ", + "obsolete cell", + "Abnormal nervous system physiology (HPO)", + "appendage", + "subdivision of vertebral column", + "Abnormal metencephalon morphology (HPO)", + "postcranial axial skeleton", + "vertebra", + "axial skeleton plus cranial skeleton", + "abnormal ear morphology", + "abnormal long bone morphology", + "paired limb/fin skeleton", + "digit 1 digitopodial skeleton", + "postcranial axial skeletal system", + "subdivision of tube", + "multicellular organism", + "abnormal fused sacrum morphology", + "abnormal nose tip morphology", + "cognitive behavior", + "dorsum", + "manus bone", + "Abnormality of the male genitalia (HPO)", + "Abnormal morphology of female internal genitalia (HPO)", + "Abnormality of the integument (HPO)", + "Abnormal sacrum morphology (HPO)", + "nose tip", + "skeletal element", + "absent uterus in the independent continuant", + "abnormal esophagus morphology", + "sacral region", + "decreased size of the mandible", + "abnormal biological_process in central nervous system", "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormal digit morphology", - "Abnormality of limb bone", - "abnormal manus morphology", - "flat anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal anatomical entity morphology in the manus", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal appendicular skeleton morphology", - "Aplasia/Hypoplasia of the mandible", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal autopod region morphology", - "abnormal ear", - "Absent thumb", - "aplastic anatomical entity", + "forelimb", + "autopodial skeleton", + "sacral region of vertebral column", + "acropodial skeleton", + "individual digit of digitopodial skeleton", + "regulation of biological process", + "digit", + "Abnormality of the head (HPO)", + "abdominal segment of trunk", + "abnormal limb", + "abnormal arm", "abnormal bone of pectoral complex morphology", + "system", + "abnormal development of anatomical entity", + "trunk region element", + "anatomical entity", + "regulation of macromolecule metabolic process", + "pectoral complex", + "central nervous system myelination", + "digit 1 or 5", + "brain", + "manual digitopodium region", + "absent anatomical entity in the independent continuant", + "Short neck (HPO)", + "increased size of the anatomical entity in independent continuant", + "bone cell", + "nervous system development", + "biological_process", + "protein-containing material entity", + "subdivision of skeleton", + "midface", + "segmental subdivision of hindbrain", + "absent epiphysis of phalanx of manus in the phalanx of manus", + "phenotype", + "Talipes equinovarus (HPO)", + "abnormal manus", + "abnormal face", + "absent anatomical entity in the phalanx of manus", + "vertebral column", + "zone of long bone", + "arm", + "abnormal nose", + "long bone", + "main body axis", + "manual digit", + "cranial skeletal system", + "abnormal vertebral column morphology", + "organism subdivision", + "vestibulo-auditory system", + "forelimb endochondral element", + "abnormal manual digit 1 morphology", + "male reproductive system", + "secondary palate", + "digestive system", + "abdominal segment element", + "Abnormal tracheal morphology (HPO)", + "pectoral appendage skeleton", + "female reproductive system", + "skeleton of manual acropodium", + "Aplasia/Hypoplasia of fingers (HPO)", + "forelimb zeugopod bone", + "manual digit digitopodial skeleton", + "Abnormality of the gastrointestinal tract (HPO)", + "Phenotypic abnormality (HPO)", + "process", + "organ system subdivision", + "central nervous system", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal incomplete closing of the secondary palate", + "organ", + "bone of jaw", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", + "fused sacrum hypoplasia", + "limb long bone", + "manual digit bone", "abnormal cellular metabolic process", - "abnormal respiratory system", - "Aplasia of the fingers", - "Abnormal finger morphology", - "abnormal secondary palate morphology", - "abnormal shape of external ear", - "Reduced attention regulation", + "ventricular system of central nervous system", + "acropodium region", + "abnormal brain ventricle morphology", + "Abnormal respiratory system morphology (HPO)", + "digitopodium region", + "Abnormal reproductive system morphology (HPO)", + "immaterial anatomical entity", + "Abnormality of head or neck (HPO)", + "endochondral element", + "central nervous system development", + "bone element", + "Abnormal location of ears (HPO)", + "bodily fluid", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal opening of the anatomical entity", "abnormal limb bone morphology", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "orifice", + "zone of organ", + "Abnormal hand epiphysis morphology (HPO)", + "posterior region of body", + "cervical vertebra endochondral element", + "aplasia or hypoplasia of eyeball of camera-type eye", + "independent continuant", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "flattened anatomical entity", + "Morphological central nervous system abnormality (HPO)", + "upper limb segment", + "absent anatomical entity in the female reproductive system", + "anatomical wall", + "trunk", + "abnormal ear", + "digit 1 plus metapodial segment", + "cell", + "Absent epiphyses (HPO)", + "brain ventricle/choroid plexus", + "Abnormal appendicular skeleton morphology (HPO)", + "sense organ", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "abnormal anatomical entity morphology in the manus", + "subdivision of organism along appendicular axis", + "absent manual digit 1", + "Abnormal skeletal morphology (HPO)", + "limb skeleton subdivision", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "abnormal vertebral column", + "manual digit 1 digitopodial skeleton", + "segmental subdivision of nervous system", + "abnormal skin of body", + "palpebral fissure", + "abnormal external nose", + "Aplasia/Hypoplasia of the sacrum (HPO)", + "appendicular skeleton", + "absent anatomical entity in the limb", + "zone of bone organ", + "abnormal size of eyeball of camera-type eye", + "Positional foot deformity (HPO)", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "paired limb/fin", + "External genital hypoplasia (HPO)", + "anatomical collection", + "decreased size of the cerebellum", + "Growth delay (HPO)", + "abnormal phalanx of manus morphology", + "aplastic anatomical entity", + "subdivision of head", + "Abnormality of epiphysis morphology (HPO)", + "abnormal cervical vertebra", + "abnormal number of anatomical enitites of type anatomical entity", + "female reproductive organ", + "Abnormality of the hand (HPO)", + "absent digit", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "Abnormal facial skeleton morphology (HPO)", + "segment of autopod", + "aplasia or hypoplasia of vertebral column", "abnormal appendicular skeleton morphology", - "shape anatomical entity", - "Abnormal respiratory system morphology", - "decreased qualitatively biological_process", + "skeleton", + "Abnormal cellular physiology (HPO)", + "abnormal radius bone", + "digit plus metapodial segment", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Wide nasal bridge (HPO)", + "appendage girdle complex", + "Aplasia/Hypoplasia of the external ear (HPO)", + "manual digit plus metapodial segment", + "abnormal nervous system", + "Abdominal symptom (HPO)", + "lateral structure", + "Abnormality of brain morphology (HPO)", + "limb", + "endochondral bone", + "brain ventricle", + "multi-limb segment region", + "Abnormality of digestive system physiology (HPO)", + "material anatomical entity", + "abnormal epiphysis morphology in the skeleton of manus", + "Absent epiphyses of the thumb (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "Abnormality of the uterus (HPO)", + "cell development", + "All (HPO)", + "hyperactivity", + "abnormal epiphysis morphology", "abnormal cellular component organization", - "abnormal trachea morphology", - "absent anatomical entity", - "abnormal limb morphology", - "abnormal digit morphology", - "Abnormal sacrum morphology", - "Abnormal metencephalon morphology", - "Cerebellar hypoplasia", - "Aplasia/Hypoplasia of the sacrum", - "Abnormal external nose morphology", - "Aplasia/Hypoplasia involving the vertebral column", - "Low-set ears", - "Tracheoesophageal fistula", - "abnormally increased number of anatomical entity", - "Abnormality of the neck", - "abnormal vertebral column morphology", + "absent anatomical entity in the skeletal system", + "appendicular skeletal system", + "irregular bone", + "abnormal epiphysis of phalanx of manus morphology", + "intromittent organ", + "aplasia or hypoplasia of anatomical entity", + "Abnormal pinna morphology (HPO)", + "abnormal external ear morphology", + "aplasia or hypoplasia of external ear", + "flattened anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "biological regulation", + "decreased size of the external ear", + "axial skeletal system", + "skeleton of manual digitopodium", + "Abnormal myelination (HPO)", + "occurrent", + "epiphysis", + "Abnormal oral cavity morphology (HPO)", + "Abnormal nasal bridge morphology (HPO)", + "abnormal skeletal system morphology", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "abnormal anatomical entity morphology in the independent continuant", + "segment of manus", + "Microtia (HPO)", + "Abnormality of limb bone morphology (HPO)", + "external ear hypoplasia", + "epiphysis of phalanx", + "skeleton of manus", + "abnormal shape of external ear", + "Abnormality of thumb epiphysis (HPO)", + "abnormal postcranial axial skeleton morphology", + "manual digit 1 plus metapodial segment", + "Abnormality of the palpebral fissures (HPO)", + "metencephalon", + "Abnormal thumb morphology (HPO)", + "Abnormal upper limb bone morphology (HPO)", + "programmed DNA elimination by chromosome breakage", + "abnormal orbital region", "delayed myelination", - "Chromosomal breakage induced by crosslinking agents", - "abnormal tracheobronchial tree morphology", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", - "absent forelimb zeugopod bone", - "abnormal respiratory tube morphology", - "Abnormal tracheal morphology", + "autopodial extension", + "eyelid", + "multi-tissue structure", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "decreased length of anatomical entity in independent continuant", + "phalanx of manus", + "autopod endochondral element", + "Talipes (HPO)", + "structure with developmental contribution from neural crest", + "regional part of nervous system", + "shape anatomical entity", + "abnormal head", + "forelimb bone", + "simple eye", + "immune system", + "organ part", + "abnormal uterus", + "Abnormality of the ocular adnexa (HPO)", + "abnormal shape of continuant", + "aplasia or hypoplasia of manual digit 1", + "absent epiphysis of phalanx of manus in the independent continuant", + "mandible hypoplasia", + "behavior", + "anatomical conduit", + "orbital region", + "Abnormal axial skeleton morphology (HPO)", + "abnormal size of anatomical entity", + "regulation of cellular metabolic process", + "abnormal multicellular organism morphology", + "Behavioral abnormality (HPO)", + "manual digit 1 phalanx endochondral element", + "Upslanted palpebral fissure (HPO)", + "abnormal behavior process", + "Bilateral talipes equinovarus (HPO)", + "Hyperpigmentation of the skin (HPO)", + "abnormal organelle organization", + "head", + "Abnormality of the kidney (HPO)", + "flat anatomical entity", + "Abnormality of digestive system morphology (HPO)", + "abnormally increased number of brain ventricle in the independent continuant", + "chromatin organization", + "sensory system", + "manual digit 1 phalanx", + "ectoderm-derived structure", + "Abnormality of the face (HPO)", + "abnormal phenotype by ontology source", + "abnormal hard palate morphology", + "absent external ear in the independent continuant", + "Short attention span (HPO)", + "abnormal phalanx morphology", + "proximo-distal subdivision of respiratory tract", + "trunk bone", "abnormal respiratory system morphology", - "abnormal biological_process in nervous system", - "abnormal alimentary part of gastrointestinal system", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "Abnormal esophagus morphology", - "aplasia or hypoplasia of skull", - "abnormal skin of body morphology", - "abnormal myelination in independent continuant", - "Aplasia involving bones of the extremities", - "All", - "increased qualitatively biological_process", - "Abnormal cerebrospinal fluid morphology", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal central nervous system myelination", - "abnormal closing of the anatomical entity", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormality of brain morphology", - "Delayed myelination", - "abnormal brain morphology", + "subdivision of organism along main body axis", + "Abnormality of the outer ear (HPO)", + "anterior region of body", + "Hypermelanotic macule (HPO)", + "neurogenesis", + "subdivision of trunk", + "external ear", + "tissue", + "Abnormality of mental function", + "abnormal ocular adnexa morphology", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "bone element hypoplasia in independent continuant", + "skin of body", + "abnormal biological_process", + "sensation behavior", + "shape nose tip", + "craniocervical region", + "negative regulation of biological process", + "behavior process", + "delayed central nervous system myelination", + "disconnected anatomical group", + "olfactory organ", "abnormal ocular adnexa", - "abnormal location of ear", - "abnormal anatomical entity topology in independent continuant", - "abnormal ear morphology", - "Decreased anatomical entity position", - "Reduced impulse control", - "Short attention span", - "abnormal location of external ear", - "Decreased external ear position", - "Abnormal location of ears", - "Abnormality of the gastrointestinal tract", - "Webbed neck", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "Hyperpigmentation of the skin", - "Gastrointestinal atresia", - "Abnormality of the vertebral column", - "Macule", - "abnormal pigmentation", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "Short neck", - "abnormal pigmentation in independent continuant", - "increased pigmentation", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "absent kidney in the renal system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased biological_process in independent continuant", - "Renal hypoplasia", - "increased qualitatively biological_process in independent continuant", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Cleft palate", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal penis", - "abnormal uterus", - "Abnormality of the skin", + "abnormal cellular process", + "Hypoplasia of penis (HPO)", + "regulation of biosynthetic process", + "entire sense organ system", + "abnormal external ear", + "Phenotypic abnormality", + "flat nose tip", + "Micrognathia (HPO)", + "abnormal limb bone", "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "anus atresia", - "Abnormality of the anus", + "bone of craniocervical region", + "regulation of gene expression", + "abnormal eyelid morphology", + "abnormal manus morphology", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "primary subdivision of cranial skeletal system", + "forelimb long bone", + "phenotype by ontology source", + "kinesthetic behavior phenotype", + "metabolic process", + "abnormal response to stimulus", + "Hyperactivity (HPO)", + "Abnormal mandible morphology (HPO)", + "continuant", + "abnormal limb long bone morphology", + "Abnormality of metabolism/homeostasis (HPO)", + "negative regulation of cellular process", + "intramembranous bone", + "skeleton of limb", + "abnormal facial skeleton morphology", + "nervous system", + "abnormal behavior", + "increased length of the anatomical entity", + "shape anatomical entity in independent continuant", + "abnormal penis morphology", + "negative regulation of macromolecule metabolic process", + "paired limb/fin segment", + "abnormal palpebral fissure", + "Absent thumb (HPO)", + "abnormal neck morphology", + "regulation of cellular biosynthetic process", + "cellular organisms", + "aplasia or hypoplasia of radius bone", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", + "non-connected functional system", + "musculoskeletal system", + "fused sacrum", + "compound organ", + "autopod region", + "decreased size of the anatomical entity", + "lower jaw region", + "zeugopod", + "limb endochondral element", + "regulation of cellular process", + "anatomical system", + "regulation of metabolic process", + "bony pelvis", + "lower limb segment", + "behavioral phenotype", + "absent uterus in the female reproductive system", + "Abnormality of upper limb epiphysis morphology (HPO)", + "Abnormal cellular phenotype (HPO)", + "changed biological_process rate", + "anatomical entity hypoplasia", + "absent forelimb zeugopod bone", + "Abnormal eyelid morphology (HPO)", + "phalanx", + "protein-containing complex organization", + "abnormal closing of the anatomical entity", + "material entity", + "internal female genitalia", + "aplasia or hypoplasia of skeleton", + "embryo development", + "camera-type eye", + "tracheobronchial tree", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "entity", + "epigenetic regulation of gene expression", + "reproductive structure", + "abnormal reproductive system", + "Abnormal CNS myelination (HPO)", + "manual digit 1 or 5", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "eye", + "increased pigmentation in skin of body", + "manual digit 1", + "Abnormality of the cervical spine (HPO)", + "cellular process", + "aplasia or hypoplasia of skull", + "Chromosome breakage (HPO)", + "Abnormality of the genitourinary system (HPO)", + "programmed DNA elimination", + "abdominal segment bone", + "cellular component organization", + "multicellular organismal process", + "Attention deficit hyperactivity disorder (HPO)", + "radius bone", + "bone of dorsum", + "Abnormality of bone marrow cell morphology (HPO)", + "absent epiphysis", + "multicellular anatomical structure", + "abnormality of nervous system physiology", + "dermatocranium", + "Aplasia/Hypoplasia of the ear (HPO)", + "reproductive system", + "Renal hypoplasia (HPO)", + "Abnormal ear morphology (HPO)", + "abnormal camera-type eye morphology", + "negative regulation of metabolic process", + "ventricular system of brain", + "negative regulation of gene expression", + "bone of free limb or fin", + "decreased size of the anatomical entity in the independent continuant", ], "has_phenotype_count": 36, "highlight": None, @@ -2272,6 +3618,7 @@ def autocomplete(): "HP:0001896", "HP:0000568", "HP:0001518", + "HP:0001263", "HP:0003221", "HP:0009943", "HP:0000978", @@ -2285,977 +3632,1551 @@ def autocomplete(): "HP:0003214", "HP:0003213", "HP:0000085", - "HP:0001263", ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", - "Absent radius", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Hyperpigmentation of the skin", - "Anemia", - "Leukemia", - "Duplicated collecting system", - "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney", - "Global developmental delay", + "Ectopic kidney (HPO)", + "Neutropenia (HPO)", + "Absent thumb (HPO)", + "Intellectual disability (HPO)", + "Microcephaly (HPO)", + "Abnormal heart morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Hypergonadotropic hypogonadism (HPO)", + "Renal agenesis (HPO)", + "Anemic pallor (HPO)", + "Pancytopenia (HPO)", + "Cryptorchidism (HPO)", + "Absent radius (HPO)", + "Thrombocytopenia (HPO)", + "Short thumb (HPO)", + "Reticulocytopenia (HPO)", + "Microphthalmia (HPO)", + "Small for gestational age (HPO)", + "Global developmental delay (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Complete duplication of thumb phalanx (HPO)", + "Bruising susceptibility (HPO)", + "Hyperpigmentation of the skin (HPO)", + "Anemia (HPO)", + "Leukemia (HPO)", + "Duplicated collecting system (HPO)", + "Short stature (HPO)", + "Strabismus (HPO)", + "Hearing impairment (HPO)", + "Prolonged G2 phase of cell cycle (HPO)", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Horseshoe kidney (HPO)", ], "has_phenotype_closure": [ - "HP:0001263", "UPHENO:0082129", - "UPHENO:0041821", - "UPHENO:0049671", - "UPHENO:0051124", - "UPHENO:0049964", + "UPHENO:0019487", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0041075", + "GO:0071704", + "GO:0006807", + "GO:0044238", + "GO:0051716", "HP:0003254", - "HP:0003214", + "UPHENO:0049671", + "GO:0090304", + "GO:0006974", + "GO:0006725", + "GO:0022403", + "GO:0022402", "UPHENO:0049952", - "HP:0000598", - "UPHENO:0052231", + "GO:0051319", + "GO:0051325", + "HP:0011018", + "HP:0003214", + "GO:0046483", + "GO:0007605", + "UPHENO:0002240", + "UPHENO:0052970", + "HP:0031704", "UPHENO:0005518", - "HP:0000365", - "HP:0012373", + "UBERON:0001690", + "UBERON:0002105", + "BFO:0000141", + "HP:0000496", + "UPHENO:0049622", + "UPHENO:0080300", + "UPHENO:0079826", "UPHENO:0049586", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0000549", + "NBO:0000338", 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"UPHENO:0087518", - "UPHENO:0050008", + "BFO:0000003", + "UPHENO:0026181", + "UPHENO:0049940", + "NCBITaxon:1", "UPHENO:0008523", - "UPHENO:0041075", - "UPHENO:0050108", - "UPHENO:0085144", - "UPHENO:0081423", - "UPHENO:0002642", - "HP:0001627", - "UPHENO:0080325", - "HP:0000486", - "HP:0001172", - "UPHENO:0082794", - "UPHENO:0026506", - "UPHENO:0076724", - "HP:0004322", - "HP:0001249", - "UPHENO:0002433", - "HP:0100543", - "HP:0012759", - "UPHENO:0087427", - "UPHENO:0002332", - "HP:0000708", - "UPHENO:0082875", - "UPHENO:0086176", + "UPHENO:0021802", + "UPHENO:0021800", + "HP:0002597", + "UBERON:0003606", + "HP:0001892", + "UBERON:0001440", + "UPHENO:0031839", + "UBERON:0002416", + "UPHENO:0009300", + "UPHENO:0009327", + "UBERON:5101463", + "UPHENO:0076703", + "UPHENO:0081466", + "UBERON:0002091", + "UPHENO:0002536", + "UBERON:0005172", + "UPHENO:0027467", + "GO:0005623", "UPHENO:0004523", - "UPHENO:0001005", - "HP:0040195", - "HP:0012145", - "UPHENO:0026128", - "UPHENO:0005016", - "HP:0000119", - "HP:0000152", - "HP:0006501", - "UPHENO:0087907", - "UPHENO:0080126", - "UPHENO:0076799", - "UPHENO:0075195", - "HP:0009121", - "HP:0000032", - "UPHENO:0022529", - "UPHENO:0076702", - "HP:0002977", - "HP:0000240", - "HP:0000078", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0086002", - "HP:0000252", - "UPHENO:0050625", - "HP:0010461", - "HP:0000929", - "HP:0000364", - "BFO:0000002", - "HP:0012639", + "HP:0025461", + "HP:0011354", + "UBERON:0001434", + "UBERON:0003466", + "UBERON:0005913", + "UBERON:0000955", + "UBERON:0004121", + "HP:0001881", + "HP:0000079", + "RO:0002577", + "UPHENO:0081581", + "HP:0006265", + "HP:0006505", + "UPHENO:0075696", + "HP:0011297", + "HP:0045060", + "HP:0000080", + "PR:000050567", + "HP:0010228", "UPHENO:0026980", - "UPHENO:0075997", - "UPHENO:0020888", - "HP:0030680", - "UPHENO:0086173", - "UPHENO:0085356", + "UBERON:0004765", + "HP:0009998", + "HP:0100887", + "UBERON:0005177", + "UBERON:0002529", + "UBERON:0000949", + "UBERON:0000466", + "UPHENO:0069523", + "UBERON:0000033", + "UBERON:0001460", + "HP:0003839", + "HP:0000086", + "UBERON:0006717", + "UPHENO:0002948", + "UPHENO:0002708", + "UBERON:0002389", + "UBERON:0004381", + "UBERON:0012140", + "UBERON:0010707", "UPHENO:0076810", + "UPHENO:0075195", + "UPHENO:0054299", + "HP:0005918", + "HP:0011029", + "HP:0030680", + "UPHENO:0078606", + "HP:0011991", + "UPHENO:0002896", + "UBERON:0007811", + "UPHENO:0049874", + "PATO:0000001", + "UPHENO:0084447", + "UBERON:0000153", + "UBERON:0002513", "UPHENO:0076776", - "HP:0001626", - "UPHENO:0085875", - "HP:0011355", - "UPHENO:0082682", - "UPHENO:0003811", - "HP:0001873", - "HP:0001034", - "UPHENO:0002219", - "HP:0009823", - "HP:0000957", - "UPHENO:0076692", - "UPHENO:0002536", - "HP:0001876", - "HP:0002011", - "UPHENO:0074575", - "HP:0012758", - "UPHENO:0009399", - "UPHENO:0025211", - "UPHENO:0050121", - "UPHENO:0074572", "UPHENO:0080377", - "UPHENO:0054970", - "UPHENO:0080221", - "HP:0007364", - "UPHENO:0025100", - "UPHENO:0076739", + "UBERON:0002495", + "UBERON:0010740", + "UPHENO:0002903", + "UPHENO:0002332", + "UPHENO:0076727", + "UPHENO:0002803", + "UBERON:0001442", + "UPHENO:0060026", + "HP:0000118", + "UBERON:0015063", + "UBERON:0004176", + "UBERON:0002428", + "HP:0100543", + "UBERON:0004387", + "HP:0009115", + "CL:0000775", + "UPHENO:0027319", + "UBERON:0000481", + "UBERON:0012475", + "HP:0012372", + "HP:0005927", + "UBERON:0002100", + "HP:0006496", + "UPHENO:0006910", + "HP:0005924", + "UPHENO:0002219", + "NCBITaxon:131567", + "UBERON:0000479", + "UPHENO:0027575", + "UBERON:0019231", + "GO:0031323", + "UBERON:0011249", + "HP:0001896", + "CL:0000766", + "GO:0003008", + "HP:0003974", + "HP:0005920", + "NBO:0000444", + "HP:0009777", + "HP:0000252", + "UBERON:0012141", + "UPHENO:0080126", + "BFO:0000015", + "UPHENO:0080079", + "HP:0009825", + "UPHENO:0015280", + "UBERON:0004120", + "UPHENO:0041226", + "UPHENO:0046707", + "UPHENO:0026506", "UPHENO:0002635", - "HP:0001574", - "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0088170", - "UPHENO:0002844", - "UPHENO:0049587", + "UPHENO:0076723", + "CL:0000000", + "UBERON:0000062", + "UBERON:0010314", + "CL:0000003", + "HP:0011793", + "CL:0002371", + "HP:0000032", + "UBERON:0004288", + "UBERON:0003620", + "UBERON:5102389", + "HP:0010974", + "HP:0003213", + "HP:0002715", + "UPHENO:0081423", + "HP:0001909", + "UPHENO:0003020", + "UBERON:0010712", + "UBERON:0005173", + "HP:0011893", + "UBERON:0005178", + "CL:0000081", + "UBERON:0002101", + "UBERON:0009569", + "HP:0032251", + "UBERON:0011143", + "UBERON:0013701", + "HP:0010987", + "HP:0000486", + "UPHENO:0004459", + "UBERON:0012151", + "HP:0004322", + "GO:0010629", + "HP:0001627", + "UBERON:0005055", "HP:0000815", - "HP:0008373", - "UPHENO:0066972", - "UPHENO:0024906", - "UPHENO:0087369", - "UPHENO:0085195", - "HP:0000135", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0085354", + "UBERON:0010741", + "HP:0000818", + "CL:0000255", + "HP:0032309", + "CL:0000763", + "MPATH:119", + "UBERON:0000061", + "UBERON:0011818", + "CL:0000738", + "UBERON:0015061", + "GO:0008150", + "HP:0002813", + "UBERON:0006058", + "UPHENO:0050625", "UPHENO:0066927", - "HP:0000080", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "UPHENO:0050113", - "HP:0000104", - "HP:0000953", - "UPHENO:0088162", - "HP:0000980", - "UPHENO:0088176", + "UPHENO:0074589", + "UPHENO:0052178", + "NCBITaxon:2759", + "UBERON:0000468", + "UBERON:0000489", + "CL:0000094", + "GO:0071824", + "UPHENO:0002642", + "GO:1901360", + "HP:0011873", + "HP:0005930", + "UPHENO:0053580", + "GO:0009889", + "CL:0000219", + "HP:0025354", + "UBERON:0011137", + "UBERON:0002104", + "HP:0001875", + "HP:0011314", + "UPHENO:0002880", + "UBERON:0000467", + "HP:0000002", + "HP:0001017", + "HP:0011842", + "UBERON:0002193", + "HP:0040064", + "HP:0000978", + "UBERON:0002405", + "UBERON:5001463", + "UPHENO:0068971", + "UBERON:0003103", + "HP:0001911", + "UBERON:0004375", + "UBERON:0004088", + "HP:0001626", + "UPHENO:0075159", + "UBERON:0034944", + "UBERON:0012354", + "HP:0000365", + "HP:0012210", + "HP:0020047", + "UBERON:0000020", + "UPHENO:0076799", + "UBERON:0000465", + "HP:0003221", + "BFO:0000004", + "BFO:0000020", + "HP:0000085", + "UBERON:0019221", + "HP:0001510", + "HP:0011355", + "HP:0100542", "HP:0001903", - "HP:0001877", + "UPHENO:0076779", + "UBERON:0006048", + "HP:0000364", + "UPHENO:0020832", + "UBERON:0005897", + "BFO:0000040", + "UBERON:0011676", + "UBERON:0000075", + "UBERON:0010688", + "MPATH:120", + "GO:0043473", + "UPHENO:0052778", + "UPHENO:0079872", + "UBERON:0002417", + "UPHENO:0075902", + "HP:0000001", + "GO:0007049", + "UBERON:0010000", + "HP:0001507", + "HP:0001871", + "HP:0009822", + "UBERON:0010538", + "UBERON:0015203", + "UBERON:5006048", + "UPHENO:0001001", + "GO:0050896", + "UBERON:0000475", + "HP:0001000", "HP:0012130", - "HP:0011873", - "UPHENO:0087339", - "UPHENO:0085302", - "UPHENO:0086049", + "UBERON:0005881", + "UPHENO:0081424", + "UPHENO:0074572", + "UBERON:8450002", + "UPHENO:0081755", + "UPHENO:0020651", + "UPHENO:0020220", + "HP:0000081", + "GO:0050877", + "NCBITaxon:33208", + "UPHENO:0027515", + "UPHENO:0049588", + "GO:0031052", + "UBERON:0013702", + "UBERON:0000916", "HP:0000028", - "UPHENO:0088166", + "UBERON:0015212", + "UPHENO:0050620", + "UBERON:0004122", + "UBERON:0011216", + "CL:0002422", + "UBERON:0001062", + "MPATH:0", + "UBERON:0007272", + "UPHENO:0002406", "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0049701", + "HP:0003220", + "UBERON:0000026", + "UBERON:0000463", + "CL:0000225", + "UPHENO:0001003", + "HP:0009142", + "UPHENO:0001002", ], "has_phenotype_closure_label": [ - "Neurodevelopmental delay", - "shape anatomical entity in independent continuant", - "3-D shape anatomical entity", "concave 3-D shape anatomical entity", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Hearing impairment", - "Hearing abnormality", - "Abnormality of the ear", - "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal shape of continuant", + "shape anatomical entity in independent continuant", + "shape kidney", + "abnormal cellular response to DNA damage stimulus", + "DNA metabolic process", + "response to stimulus", + "abnormal DNA repair", + "Abnormality of DNA repair (HPO)", + "nucleic acid metabolic process", + "DNA damage response", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "heterocycle metabolic process", + "organic substance metabolic process", + "primary metabolic process", + "cellular metabolic process", + "cellular response to stimulus", + "Abnormality of the cell cycle (HPO)", + "biological phase", + "Prolonged G2 phase of cell cycle (HPO)", + "cell cycle phase", + "cell cycle process", + "Abnormal ear physiology (HPO)", + "sensory perception of mechanical stimulus", + "abnormal sensory perception", "abnormality of ear physiology", - "Abnormal eye physiology", - "abnormal behavior process", + "decreased qualitatively sensory perception of sound", + "decreased sensory perception of sound", + "Hearing impairment (HPO)", + "ear", + "immaterial entity", "abnormal behavior", - "Abnormal conjugate eye movement", - "Atypical behavior", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Abnormality of body height", - "Growth delay", - "decreased size of the multicellular organism", + "eye movement", + "abnormal response to stimulus", + "kinesthetic behavior", + "behavior process", + "abnormality of camera-type eye physiology", + "anatomical line", + "abnormal behavior process", + "Strabismus (HPO)", + "abnormal size of multicellular organism", "delayed biological_process", - "abnormal renal collecting system", + "decreased size of the multicellular organism", "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm by anatomical site", - "Neoplasm", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", + "cellular aromatic compound metabolic process", + "delayed growth", + "Duplicated collecting system (HPO)", + "Leukemia (HPO)", + "Hematological neoplasm (HPO)", + "vasculature", + "Abnormality of the vasculature (HPO)", + "Vascular skin abnormality (HPO)", + "pathological phenotype observation", + "Abnormal bleeding (HPO)", + "abnormality of multicellular organism height", + "Internal hemorrhage (HPO)", + "Bruising susceptibility (HPO)", + "cellular nitrogen compound metabolic process", + "Subcutaneous hemorrhage (HPO)", + "abnormality of cardiovascular system physiology", + "Abnormal cardiovascular system physiology (HPO)", + "circulatory system process", "abnormal vasculature", - "Vascular skin abnormality", - "Internal hemorrhage", - "Complete duplication of thumb phalanx", - "Duplication of thumb phalanx", - "Duplication of bones involving the upper extremities", - "shape kidney", - "Duplication of phalanx of hand", - "Duplication of hand bones", - "Abnormality of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "abnormal cellular process", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", + "Duplication of hand bones (HPO)", + "Duplication of phalanx of hand (HPO)", + "Abnormal cellular physiology (HPO)", + "Abnormality of metabolism/homeostasis (HPO)", + "negative regulation of macromolecule metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "regulation of cellular process", + "negative regulation of biological process", + "negative regulation of gene expression", + "metabolic process", + "cellular process", "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Small for gestational age", - "Decreased anatomical entity mass", - "abnormality of anatomical entity mass", + "Chromosome breakage (HPO)", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "abnormal cellular process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "protein-containing complex organization", + "response to stress", + "cellular component organization", + "regulation of biological process", + "growth", + "Growth abnormality (HPO)", "decreased multicellular organism mass", - "Decreased multicellular organism mass", - "Abnormality of body weight", - "abnormality of multicellular organism mass", - "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face", - "Abnormality of the orbital region", - "abnormal face morphology", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "Abnormal reticulocyte morphology", - "decreased length of digit", - "Short finger", - "decreased length of manual digit 1", - "Short digit", - "decreased length of anatomical entity in independent continuant", + "Abnormality of thumb phalanx (HPO)", + "Decreased body weight (HPO)", + "entire sense organ system", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "Microphthalmia (HPO)", + "Abnormal eye morphology (HPO)", + "simple eye", + "visual system", + "eye", + "orbital region", + "negative regulation of metabolic process", + "abnormal camera-type eye morphology", + "face", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of the face (HPO)", + "Short stature (HPO)", + "camera-type eye", + "Neoplasm (HPO)", + "Abnormality of globe size (HPO)", + "Abnormality of the eye (HPO)", + "Reticulocytopenia (HPO)", + "decreased size of the anatomical entity in the pectoral complex", "decreased length of manual digit", - "decreased size of the anatomical entity", + "decreased length of digit", + "Short thumb (HPO)", "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving forearm bones", - "Abnormal upper limb bone morphology", - "Absent forearm bone", - "Absent radius", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "absent radius bone", - "Global developmental delay", - "Abnormality of the cell cycle", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "decreased anatomical entity mass", - "abnormal long bone morphology", + "decreased size of the anatomical entity", + "decreased length of manual digit 1", + "sensory perception", + "decreased length of anatomical entity", + "Aplasia involving bones of the extremities (HPO)", + "Abnormality of forearm bone (HPO)", + "Decreased multicellular organism mass", + "Aplasia involving bones of the upper limbs (HPO)", + "absent radius bone in the independent continuant", + "forelimb zeugopod skeleton", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "zeugopod", + "radius endochondral element", + "arm bone", + "radius bone", "absent forelimb zeugopod bone", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "abnormal forelimb zeugopod bone", + "body part movement", "absent radius bone in the forelimb", - "absent radius bone in the independent continuant", - "abnormally localised testis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal response to stress", - "decreased developmental process", - "Abnormal external genitalia", + "absent radius bone", + "Complete duplication of phalanx of hand (HPO)", + "Absent forearm bone (HPO)", + "abnormal forelimb zeugopod", + "male organism", + "abnormal reproductive process", + "decreased qualitatively developmental process", "decreased qualitatively reproductive process", + "decreased qualitatively biological_process", + "Complete duplication of thumb phalanx (HPO)", + "Abnormality of chromosome stability (HPO)", "abnormal multicellular organismal reproductive process", - "Abnormal male reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormality of internal male genitalia physiology", - "abnormal spermatogenesis", - "Abnormal testis morphology", - "Cryptorchidism", - "abnormal testis morphology", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", - "abnormality of male reproductive system physiology", + "Abnormality of blood circulation (HPO)", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "external male genitalia", + "Abnormal testis morphology (HPO)", "abnormal developmental process", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "abnormal forelimb morphology", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal neutrophil count", - "abnormal sensory perception", - "abnormal manus", - "abnormal manus morphology", - "Abnormality of limb bone", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "agenesis of anatomical entity", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Short thumb", - "abnormal manual digit 1 morphology", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "phenotype by ontology source", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal cellular phenotype", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormally decreased number of neutrophil", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormality of blood and blood-forming tissues", - "Abnormality of multiple cell lineages in the bone marrow", - "absent gamete", - "abnormal hematopoietic cell morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Abnormal cellular immune system morphology", - "abnormal brain morphology", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", - "Abnormality of eye movement", - "Abnormality of the urinary system", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "Global developmental delay (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "sperm", + "external genitalia", + "anatomical cluster", + "internal genitalia", "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "Abnormal morphology of the radius", + "semen", + "Absent radius (HPO)", + "decreased developmental process", + "Abnormal spermatogenesis (HPO)", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal developmental process involved in reproduction", + "abnormality of male reproductive system physiology", + "abnormally localised testis", + "abnormal external male genitalia", + "abnormal male reproductive system", "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormality of skull size", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Aplasia involving bones of the extremities", - "increased qualitatively biological_process", - "All", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "quality", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "Abnormal platelet morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal digit", - "abnormally localised anatomical entity in independent continuant", - "abnormal limb", - "abnormal cell", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "absent manual digit", - "abnormal phenotype by ontology source", - "abnormal genitourinary system", - "Abnormal appendicular skeleton morphology", - "abnormally localised anatomical entity", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "abnormal anatomical entity topology in independent continuant", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormally decreased number of cell in the independent continuant", - "Neutropenia", - "abnormally decreased number of anatomical entity in the independent continuant", - "Decreased body weight", - "decreased qualitatively developmental process", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal neutrophil", - "Abnormality of the skin", - "abnormal granulocyte morphology", - "Abnormal leukocyte count", - "abnormal reproductive process", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of leukocyte in the independent continuant", - "continuant", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "Abnormality of brain morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "abnormal immune system", - "Short stature", + "abnormality of internal male genitalia physiology", + "Pancytopenia (HPO)", + "sexual reproduction", + "anucleate cell", + "abnormal male reproductive organ morphology", + "bone marrow", + "secretory cell", + "abnormal orbital region", + "bone marrow cell", + "Hearing abnormality (HPO)", + "platelet", + "biogenic amine secreting cell", "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", + "serotonin secreting cell", + "germ line cell", + "bone cell", + "Abnormality of thrombocytes (HPO)", + "oxygen accumulating cell", + "Pallor (HPO)", + "absent kidney", + "zeugopodial skeleton", + "male gamete generation", + "Renal agenesis (HPO)", + "non-material anatomical boundary", + "Renal hypoplasia/aplasia (HPO)", + "Abnormality of the genital system (HPO)", + "nitrogen compound metabolic process", + "abnormal sensory perception of sound", + "abnormal testis morphology", + "reproductive system", + "Puberty and gonadal disorders (HPO)", + "changed developmental process rate", + "neutrophil", + "Hypergonadotropic hypogonadism (HPO)", + "glandular system", + "aplastic forelimb zeugopod bone", + "Abnormality of the endocrine system (HPO)", + "manual digit plus metapodial segment", + "Hypogonadism (HPO)", + "abnormal endocrine system", + "reproductive organ", + "digit 1 digitopodial skeleton", + "gonad", + "Abnormal reticulocyte morphology (HPO)", + "animal cell", + "regional part of brain", + "abnormality of reproductive system physiology", + "eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "increased qualitatively biological_process in independent continuant", + "Macule (HPO)", + "abnormal growth", + "Abnormal internal genitalia (HPO)", + "increased biological_process in skin of body", + "abnormal skin of body morphology", + "multicellular organismal reproductive process", + "Abnormal cell morphology (HPO)", + "Abnormality of the integument (HPO)", + "viscus", + "integumental system", + "abnormal eyeball of camera-type eye", + "abnormal pigmentation in independent continuant", + "Abnormality of the orbital region (HPO)", + "erythrocyte", "abnormal limb bone morphology", - "absent anatomical entity", - "abnormal limb morphology", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal developmental process involved in reproduction", - "Abnormality of the immune system", - "Thrombocytopenia", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Abnormality of reproductive system physiology (HPO)", + "increased qualitatively biological_process", + "reticulocyte", + "abnormal central nervous system morphology", "increased biological_process", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "absent germ cell", + "abnormal metabolic process", "changed biological_process rate", - "increased biological_process in skin of body", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", + "Irregular hyperpigmentation (HPO)", + "absent anatomical entity in the forelimb", + "abnormal skin of body", + "abnormal integument", + "Abnormal renal collecting system morphology (HPO)", + "sense organ", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "circulatory system", + "Abnormality of the cardiovascular system (HPO)", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "head", + "Hyperpigmentation of the skin (HPO)", + "cardiovascular system", + "abnormal cardiovascular system morphology", + "circulatory organ", + "primary circulatory organ", + "vascular system", + "thoracic segment of trunk", + "thoracic segment organ", + "upper limb segment", + "Morphological central nervous system abnormality (HPO)", + "heart", + "abnormal cardiovascular system", "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Aplasia involving forearm bones", - "Abnormality of skin pigmentation", - "Abnormality of the head", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Decreased head circumference", - "abnormal external genitalia", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", + "manual digit 1 plus metapodial segment", + "telencephalon", + "Opisthokonta", + "absent anatomical entity", + "central nervous system", + "structure with developmental contribution from neural crest", + "abnormal brain morphology", "aplasia or hypoplasia of telencephalon", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "abnormal telencephalon morphology", - "abnormal size of skull", - "Abnormal internal genitalia", - "Abnormal skull morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "Morphological central nervous system abnormality", - "Abnormal myeloid leukocyte morphology", + "Azoospermia (HPO)", + "cranial skeletal system", + "organism", + "Localized skin lesion (HPO)", + "abnormal skull morphology", + "body proper", + "Abnormal renal morphology (HPO)", + "nervous system process", + "Abnormal axial skeleton morphology (HPO)", + "abnormal size of anatomical entity", + "shape anatomical entity", + "digit 1", + "regional part of nervous system", "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "abnormal phalanx of manus morphology", + "multicellular organism reproduction", + "Metazoa", + "axial skeleton plus cranial skeleton", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "Abnormal skull morphology (HPO)", + "decreased height of the multicellular organism", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "reproductive process", + "abnormal pigmentation", + "Neoplasm by anatomical site (HPO)", + "phalanx", + "Abnormality of head or neck (HPO)", + "root", + "Abnormality of the ear (HPO)", + "protein-containing material entity", + "subdivision of skeleton", + "biological_process", + "system process", + "Intellectual disability (HPO)", + "multicellular organismal process", + "Abnormal eye physiology (HPO)", + "Neurodevelopmental abnormality (HPO)", + "pigmentation", "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", - "delayed growth", - "abnormal cardiovascular system", - "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", - "abnormal skin of body", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal integument", + "Abnormality of the nervous system (HPO)", + "cognition", + "aplasia or hypoplasia of radius bone", + "main body axis", + "cellular organisms", + "skin of body", "abnormal biological_process", - "Macule", - "Cafe-au-lait spot", - "increased pigmentation in skin of body", - "abnormal pigmentation", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "increased pigmentation", - "increased pigmentation in independent continuant", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", + "multi-tissue structure", + "organ system subdivision", + "Phenotypic abnormality (HPO)", + "process", + "absent epiphysis of phalanx of manus in the independent continuant", + "abnormality of anatomical entity physiology", + "skeletal element", + "abnormal DNA metabolic process", + "forelimb", + "Abnormal erythroid lineage cell morphology (HPO)", + "abnormal kidney", + "acropodial skeleton", + "abnormal arm", + "Microcephaly (HPO)", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "Anemic pallor (HPO)", + "abnormal bone of pectoral complex morphology", + "Abnormal conjugate eye movement (HPO)", + "system", + "Abnormal hand morphology (HPO)", + "trunk region element", + "pectoral complex", + "abnormal spermatogenesis", + "germ cell", + "segment of manus", + "abnormal anatomical entity morphology in the independent continuant", + "digit 1 or 5", + "absent manual digit", + "G2 phase", + "manual digitopodium region", + "gamete", + "organ part", + "cell cycle", + "male reproductive organ", + "reproductive structure", + "manual digit 1 or 5", + "abnormal reproductive system", + "absent epiphysis of phalanx of manus in the phalanx of manus", + "aplasia or hypoplasia of manual digit", + "abnormal epiphysis morphology in the independent continuant", + "phenotype", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal manus", + "absent anatomical entity in the phalanx of manus", + "Generalized abnormality of skin (HPO)", + "Abnormality of bone marrow cell morphology (HPO)", + "zone of long bone", + "arm", + "long bone", + "Thrombocytopenia (HPO)", + "Abnormality of forebrain morphology (HPO)", + "bone of appendage girdle complex", + "Horseshoe kidney (HPO)", + "abnormal postcranial axial skeleton morphology", + "aplasia or hypoplasia of manual digit 1", + "skeleton of manus", + "nervous system", + "skeleton of limb", + "vestibulo-auditory system", + "forelimb endochondral element", "increased biological_process in independent continuant", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased qualitatively biological_process in independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal platelet", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Aplasia of the fingers", - "Hypergonadotropic hypogonadism", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the endocrine system", - "Pancytopenia", - "Hypogonadism", - "Abnormality of reproductive system physiology", - "abnormal hematopoietic system", - "Renal agenesis", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "abnormal response to stress", + "epiphysis of phalanx of manus", + "Abnormality of brain morphology (HPO)", + "chromatin remodeling", "absent kidney in the independent continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "Anemic pallor", - "abnormal bone marrow cell morphology", - "Anemia", - "abnormal bone marrow cell", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal platelet morphology", - "abnormally decreased number of platelet", - "abnormal number of anatomical enitites of type platelet", - "Abnormality of male external genitalia", - "abnormal male reproductive organ morphology", - "changed developmental process rate", - "absent sperm in the independent continuant", - ], - "has_phenotype_count": 32, - "highlight": None, - "score": None, + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", + "abnormal digit", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", + "abnormal cellular metabolic process", + "acropodium region", + "increased pigmentation in skin of body", + "manual digit 1", + "abnormal radius bone", + "digit plus metapodial segment", + "Abnormal digit morphology (HPO)", + "multi-limb segment region", + "immaterial anatomical entity", + "blood circulation", + "Abnormal reproductive system morphology (HPO)", + "endochondral element", + "subdivision of trunk", + "abdomen element", + "Hypermelanotic macule (HPO)", + "abnormal anatomical entity morphology in the pectoral complex", + "endocrine system", + "skull", + "digit 1 plus metapodial segment", + "trunk", + "multicellular anatomical structure", + "autopodial skeleton", + "abnormal anatomical entity morphology in the skeleton of manus", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Cryptorchidism (HPO)", + "Abnormal immune system morphology (HPO)", + "decreased spermatogenesis", + "manual digit bone", + "decreased anatomical entity mass", + "anatomical entity dysfunction in independent continuant", + "increased pigmentation", + "DNA repair", + "abnormal renal collecting system", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "immune system", + "Abnormal cellular immune system morphology (HPO)", + "myeloid cell", + "abnormal phalanx morphology", + "forelimb bone", + "interphase", + "obsolete cell", + "Abnormal erythrocyte morphology (HPO)", + "epiphysis", + "Neurodevelopmental delay (HPO)", + "cavitated compound organ", + "Abnormal heart morphology (HPO)", + "abnormally localised anatomical entity in independent continuant", + "musculoskeletal system", + "Abnormality of limb epiphysis morphology (HPO)", + "compound organ", + "autopod region", + "upper urinary tract", + "abnormally decreased functionality of the anatomical entity", + "skeletal system", + "U-shaped anatomical entity", + "manual digit 1 phalanx endochondral element", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "chromatin organization", + "sensory system", + "manual digit 1 phalanx", + "abnormal upper urinary tract", + "macromolecule metabolic process", + "bone of pectoral complex", + "superficial fascia", + "abnormal skeletal system morphology", + "manual digitopodium bone", + "abnormal craniocervical region", + "Abnormal myeloid leukocyte morphology (HPO)", + "Abnormal upper limb bone morphology (HPO)", + "phalanx endochondral element", + "limb skeleton subdivision", + "hemolymphoid system", + "Decreased anatomical entity mass", + "Abnormal appendicular skeleton morphology (HPO)", + "mesoderm-derived structure", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "Abnormal skeletal morphology (HPO)", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", + "abnormal external genitalia", + "abnormal heart morphology", + "limb long bone", + "decreased length of anatomical entity in independent continuant", + "autopod endochondral element", + "phalanx of manus", + "autopod bone", + "manual digit 1 digitopodial skeleton", + "abnormal eye movement", + "subdivision of organism along appendicular axis", + "absent manual digit 1", + "gamete generation", + "Abnormality of skin morphology (HPO)", + "absent anatomical entity in the limb", + "zone of bone organ", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "motile cell", + "paired limb/fin", + "sensory perception of sound", + "abnormal phalanx of manus morphology", + "abnormal size of eyeball of camera-type eye", + "abnormal face", + "aplastic anatomical entity", + "abnormal biological_process in independent continuant", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "abnormality of multicellular organism mass", + "Short finger (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "eukaryotic cell", + "subdivision of head", + "Abnormality of epiphysis morphology (HPO)", + "integument", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of limb bone morphology (HPO)", + "Abnormality of the hand (HPO)", + "abnormal cell cycle", + "abnormal ear", + "abdominal segment element", + "absent digit", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "abnormal manus morphology", + "cell", + "phenotype by ontology source", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "forelimb long bone", + "heart plus pericardium", + "skeleton", + "manus bone", + "absent kidney in the renal system", + "Abnormal leukocyte morphology (HPO)", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "Abnormal platelet count (HPO)", + "abnormal manual digit 1 morphology", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "regulation of macromolecule metabolic process", + "aplastic manual digit 1", + "continuant", + "Small for gestational age (HPO)", + "Abnormal nervous system physiology (HPO)", + "appendage", + "Abnormality of cardiovascular system morphology (HPO)", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "abnormal epiphysis of phalanx of manus morphology", + "abnormal cellular component organization", + "appendicular skeletal system", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "anatomical collection", + "internal male genitalia", + "occurrent", + "axial skeletal system", + "skeleton of manual digitopodium", + "cellular response to stress", + "absent anatomical entity in the independent continuant", + "autopodial extension", + "absent anatomical entity in the multicellular organism", + "anterior region of body", + "abnormal nervous system", + "male germ cell", + "lateral structure", + "limb", + "endochondral bone", + "absent epiphysis in the independent continuant", + "absent epiphysis", + "Abnormality of thumb epiphysis (HPO)", + "brain", + "increased pigmentation in independent continuant", + "Absent epiphyses of the thumb (HPO)", + "Growth delay (HPO)", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "abnormally decreased functionality of the gonad", + "abnormal limb bone", + "granulocyte", + "Abnormality of the upper urinary tract (HPO)", + "Anemia (HPO)", + "Abnormal thumb morphology (HPO)", + "Absent thumb (HPO)", + "abnormal blood circulation", + "bone of free limb or fin", + "decreased qualitatively sensory perception of mechanical stimulus", + "Aplasia involving forearm bones (HPO)", + "native cell", + "paired limb/fin segment", + "absent anatomical entity in the skeletal system", + "Short digit (HPO)", + "abnormal limb long bone morphology", + "manual digit", + "Abnormal granulocyte count (HPO)", + "Abnormality of the forearm (HPO)", + "postcranial axial skeleton", + "Abnormality of the immune system (HPO)", + "pectoral appendage skeleton", + "nucleate cell", + "skeleton of manual acropodium", + "excretory system", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Abnormality of eye movement (HPO)", + "decreased size of the eyeball of camera-type eye", + "appendage girdle complex", + "Abnormal myeloid cell morphology (HPO)", + "Abnormality of neutrophils (HPO)", + "agenesis of anatomical entity", + "abnormal renal system", + "epigenetic regulation of gene expression", + "abnormally localised kidney", + "Cafe-au-lait spot (HPO)", + "abnormal size of skull", + "Neutropenia (HPO)", + "hematopoietic cell", + "Abnormal granulocyte morphology (HPO)", + "abnormal forelimb zeugopod bone", + "Decreased head circumference (HPO)", + "disconnected anatomical group", + "hematopoietic system", + "abnormal forebrain morphology", + "digitopodium region", + "Abnormal neutrophil count (HPO)", + "abnormal immune system", + "Abnormal external genitalia (HPO)", + "Abnormality of the kidney (HPO)", + "protein-DNA complex organization", + "organ", + "programmed DNA elimination by chromosome breakage", + "organism subdivision", + "Behavioral abnormality (HPO)", + "developmental process involved in reproduction", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "abnormal multicellular organism morphology", + "abnormal kidney morphology", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "Duplication of bones involving the upper extremities (HPO)", + "All (HPO)", + "behavior", + "erythroid lineage cell", + "blood cell", + "abnormal epiphysis morphology in the skeleton of manus", + "U-shaped kidney", + "material anatomical entity", + "material entity", + "abnormality of nervous system physiology", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "organism substance", + "Abnormal leukocyte count (HPO)", + "pectoral appendage", + "multicellular organism", + "abnormal location of anatomical entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "abnormal long bone morphology", + "entity", + "aplasia or hypoplasia of anatomical entity", + "enucleated reticulocyte", + "forelimb zeugopod bone", + "quality", + "3-D shape anatomical entity in independent continuant", + "anatomical system", + "abnormal anatomical entity morphology", + "Duplication of thumb phalanx (HPO)", + "appendicular skeleton", + "abdomen", + "male reproductive system", + "limb bone", + "leukocyte", + "renal collecting system", + "Cognitive impairment (HPO)", + "zone of organ", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", + "abnormal limb", + "tissue", + "Abnormality of skin pigmentation (HPO)", + "anatomical structure", + "renal system", + "epiphysis of phalanx", + "myeloid leukocyte", + "non-connected functional system", + "abnormally localised anatomical entity", + "anatomical line between pupils", + "Abnormal localization of kidney (HPO)", + "male gamete", + "ectoderm-derived structure", + "specifically dependent continuant", + "abnormal nervous system morphology", + "abnormality of anatomical entity mass", + "bone element", + "kidney", + "individual digit of digitopodial skeleton", + "abnormal internal genitalia", + "somatic cell", + "Abnormal platelet morphology (HPO)", + "Abnormal cerebral morphology (HPO)", + "testis", + "craniocervical region", + "Abnormality of upper limb epiphysis morphology (HPO)", + "3-D shape anatomical entity", + "Abnormal cellular phenotype (HPO)", + "cellular component organization or biogenesis", + "abnormal digit morphology", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the manus", + "Abnormal nervous system morphology (HPO)", + "Abnormality of skull size (HPO)", + "absent anatomical entity in the renal system", + "abnormal hematopoietic system", + "subdivision of organism along main body axis", + "aplasia or hypoplasia of skeleton", + "abnormal cellular response to stress", + "independent continuant", + "limb endochondral element", + "anatomical entity", + "thoracic cavity element", + "abnormal phenotype by ontology source", + "Abnormality of the skin (HPO)", + "reproduction", + "Abnormality of limbs (HPO)", + "abnormal telencephalon morphology", + "Ectopic kidney (HPO)", + ], + "has_phenotype_count": 32, + "highlight": None, + "score": None, }, { "id": "MONDO:0001083", @@ -3329,7 +5250,6 @@ def autocomplete(): "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0005344", "HP:0002023", "HP:0001824", @@ -3343,18 +5263,19 @@ def autocomplete(): "HP:0001882", "HP:0002863", "HP:0002119", - "HP:0001510", + "HP:0001562", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006824", "HP:0006265", @@ -3426,2059 +5347,3137 @@ def autocomplete(): "HP:0001000", ], "has_phenotype_label": [ - "Upslanted palpebral fissure", - "Absent testis", - "Abnormal pinna morphology", - "Tracheoesophageal fistula", - "Astigmatism", - "Hydrocephalus", - "Intellectual disability", - "Abnormal preputium morphology", - "Arteriovenous malformation", - "Abnormal morphology of ulna", - "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", - "Abnormal carotid artery morphology", - "Anal atresia", - "Weight loss", - "Cataract", - "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", - "Microcephaly", - "Leukopenia", - "Myelodysplasia", - "Ventriculomegaly", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the hypothalamus-pituitary axis", - "Hypertelorism", - "Azoospermia", - "Oligohydramnios", - "Duodenal stenosis", - "Clubbing of toes", - "Abnormal localization of kidney", - "Decreased fertility in males", - "Aplasia/Hypoplasia of the uvula", - "Renal hypoplasia/aplasia", - "Multiple cafe-au-lait spots", - "Cranial nerve paralysis", - "Aplasia/Hypoplasia of fingers", - "Finger syndactyly", - "Reduced bone mineral density", - "Clinodactyly of the 5th finger", - "Hypoplasia of the ulna", - "Hip dislocation", - "Abnormality of femur morphology", - "Spina bifida", - "Aganglionic megacolon", - "Meckel diverticulum", - "Frontal bossing", - "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", - "Umbilical hernia", - "Intrauterine growth retardation", - "Hyperreflexia", - "Triphalangeal thumb", - "Bicornuate uterus", - "Nystagmus", - "Microphthalmia", - "Proptosis", - "Visual impairment", - "Abnormality of vision", - "Abnormal eyelid morphology", - "Strabismus", - "Abnormality of the eye", - "Hearing impairment", - "Hearing abnormality", - "Micrognathia", - "Sloping forehead", - "Facial asymmetry", - "Epicanthus", - "Dolichocephaly", - "High palate", - "Cleft palate", - "Hypogonadism", - "Abnormality of the uterus", - "Renal insufficiency", - "Hydroureter", - "Abnormal testis morphology", - "Cryptorchidism", - "Recurrent urinary tract infections", - "Short palpebral fissure", - "Abnormal renal morphology", - "Neoplasm", - "Abnormal cardiac septum morphology", - "Global developmental delay", - "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", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Abnormal thumb morphology", - "Hypopigmented skin patches", - "Abnormality of skin pigmentation", + "Upslanted palpebral fissure (HPO)", + "Absent testis (HPO)", + "Abnormal pinna morphology (HPO)", + "Tracheoesophageal fistula (HPO)", + "Astigmatism (HPO)", + "Hydrocephalus (HPO)", + "Intellectual disability (HPO)", + "Abnormal preputium morphology (HPO)", + "Arteriovenous malformation (HPO)", + "Abnormal morphology of ulna (HPO)", + "Abnormal nervous system morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Anal atresia (HPO)", + "Weight loss (HPO)", + "Cataract (HPO)", + "Ptosis (HPO)", + "Choanal atresia (HPO)", + "Hypospadias (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Scoliosis (HPO)", + "Microcephaly (HPO)", + "Leukopenia (HPO)", + "Myelodysplasia (HPO)", + "Ventriculomegaly (HPO)", + "Oligohydramnios (HPO)", + "Abnormality of the liver (HPO)", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Hypertelorism (HPO)", + "Azoospermia (HPO)", + "Growth delay (HPO)", + "Duodenal stenosis (HPO)", + "Clubbing of toes (HPO)", + "Abnormal localization of kidney (HPO)", + "Decreased fertility in males (HPO)", + "Aplasia/Hypoplasia of the uvula (HPO)", + "Renal hypoplasia/aplasia (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "Multiple cafe-au-lait spots (HPO)", + "Cranial nerve paralysis (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Finger syndactyly (HPO)", + "Reduced bone mineral density (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "Hypoplasia of the ulna (HPO)", + "Hip dislocation (HPO)", + "Abnormality of femur morphology (HPO)", + "Spina bifida (HPO)", + "Aganglionic megacolon (HPO)", + "Meckel diverticulum (HPO)", + "Frontal bossing (HPO)", + "Toe syndactyly (HPO)", + "Pes planus (HPO)", + "Abnormal foot morphology (HPO)", + "Abnormal aortic morphology (HPO)", + "Abnormal aortic valve morphology (HPO)", + "Patent ductus arteriosus (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "Tetralogy of Fallot (HPO)", + "Atrial septal defect (HPO)", + "Umbilical hernia (HPO)", + "Intrauterine growth retardation (HPO)", + "Hyperreflexia (HPO)", + "Triphalangeal thumb (HPO)", + "Bicornuate uterus (HPO)", + "Nystagmus (HPO)", + "Microphthalmia (HPO)", + "Proptosis (HPO)", + "Visual impairment (HPO)", + "Abnormality of vision (HPO)", + "Abnormal eyelid morphology (HPO)", + "Strabismus (HPO)", + "Abnormality of the eye (HPO)", + "Hearing impairment (HPO)", + "Hearing abnormality (HPO)", + "Micrognathia (HPO)", + "Sloping forehead (HPO)", + "Facial asymmetry (HPO)", + "Epicanthus (HPO)", + "Dolichocephaly (HPO)", + "High palate (HPO)", + "Cleft palate (HPO)", + "Hypogonadism (HPO)", + "Abnormality of the uterus (HPO)", + "Renal insufficiency (HPO)", + "Hydroureter (HPO)", + "Abnormal testis morphology (HPO)", + "Cryptorchidism (HPO)", + "Recurrent urinary tract infections (HPO)", + "Short palpebral fissure (HPO)", + "Abnormal renal morphology (HPO)", + "Neoplasm (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "Global developmental delay (HPO)", + "Abnormality of the urinary system (HPO)", + "Irregular hyperpigmentation (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "Short stature (HPO)", + "Abnormality of chromosome stability (HPO)", + "Abnormality of the upper limb (HPO)", + "Anemia (HPO)", + "Thrombocytopenia (HPO)", + 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"UBERON:0004122", + "UPHENO:0002844", + "GO:0042592", + "UBERON:0001711", + "UBERON:0002387", + "HP:0012331", + "HP:0008050", + "UPHENO:0063599", + "UPHENO:0002536", + "HP:0000813", + "UPHENO:0080382", + "UBERON:0002417", + "HP:0002270", + "UPHENO:0076730", + "UBERON:0000047", + "UPHENO:0049985", + "UBERON:0015203", + "UPHENO:0041821", + "UPHENO:0002595", + "HP:0000153", + "UPHENO:0002433", + "UBERON:0004456", + "BFO:0000040", + "HP:0012639", + "HP:0012443", + "UBERON:0001530", + "HP:0000025", + "UBERON:0000467", + "UBERON:0000064", + "UBERON:0006800", + "CL:0002242", + "UBERON:0000160", + "UPHENO:0002719", + "UPHENO:0020998", + "UPHENO:0021447", + "UPHENO:0079828", + "UBERON:0035639", + "UBERON:5001463", + "UBERON:0000019", + "UPHENO:0015280", + "HP:0040069", + "UBERON:0005401", + "UBERON:0000179", + "HP:0030669", + "UBERON:0001449", + "HP:0001667", "HP:0004349", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0087203", - "UPHENO:0082834", - "HP:0004209", - "UPHENO:0084511", - "UPHENO:0086144", - "HP:0004097", - "HP:0009179", + "HP:0000508", + "HP:0000377", + "UPHENO:0068971", + "HP:0000234", + "UPHENO:0041146", + "HP:0000505", + "GO:0007276", + "UBERON:0000465", + "HP:0000582", + "UBERON:0013765", + "UPHENO:0049940", + "UBERON:0010230", ], "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation", - "Hypopigmented skin patches", - "decreased pigmentation in skin of body", - "Hypopigmentation of the skin", "decreased pigmentation in multicellular organism", - "abnormal blood cell morphology", - "abnormal platelet morphology", - "Thrombocytopenia", - "Abnormal platelet count", - "abnormal blood cell", + "decreased biological_process in skin of body", + "decreased pigmentation in skin of body", + "Thrombocytopenia (HPO)", + "anucleate cell", + "serotonin secreting cell", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "Abnormality of body height (HPO)", + "decreased size of the multicellular organism", "decreased height of the anatomical entity", - "Abnormality of body height", - "abnormal erythrocyte morphology", - "Abnormal myeloid cell morphology", - "abnormal hematopoietic cell morphology", - "Abnormal cell morphology", - "Sideroblastic anemia", - "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", - "decreased length of palpebral fissure", - "Recurrent urinary tract infections", - "Unusual infection", - "Abnormality of immune system physiology", - "abnormal ureter", - "Abnormal ureter morphology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", + "abnormality of multicellular organism height", + "Hypopigmentation of the skin (HPO)", + "Anemia (HPO)", + "oxygen accumulating cell", + "Abnormal cell morphology (HPO)", + "myeloid cell", + "blood cell", + "homeostatic process", + "cellular process", + "Abnormal erythroid lineage cell morphology (HPO)", + "erythrocyte differentiation", + "myeloid cell differentiation", + "cell differentiation", + "myeloid cell homeostasis", + "cellular developmental process", + "Abnormality of the radius (HPO)", + "Abnormal cellular physiology (HPO)", + "abnormal radius bone", + "radius bone", + "Global developmental delay (HPO)", + "Short palpebral fissure (HPO)", + "abnormal size of palpebral fissure", + "Abnormality of immune system physiology (HPO)", + "abnormality of immune system physiology", + "abnormally localised anatomical entity", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "renal pelvis/ureter", + "Abnormal ureter morphology (HPO)", + "abnormal ureter morphology", + "ureter", "abnormality of renal system physiology", - "Puberty and gonadal disorders", - "abnormally decreased functionality of the gonad", + "hard palate", + "abnormal incomplete closing of the secondary palate", + "Abnormal hard palate morphology (HPO)", "Orofacial cleft", - "High palate", - "increased height of anatomical entity in independent continuant", - "abnormality of anatomical entity height", - "Dolichocephaly", - "increased size of the head", - "abnormal size of head", - "abnormal skin of face morphology", + "increased height of the secondary palate", "abnormal skin of head morphology", + "increased length of the epicanthal fold", + "skin of head", + "epicanthal fold", + "abnormal skin of face morphology", + "upper eyelid", + "head or neck skin", + "Facial asymmetry (HPO)", + "abnormal face morphology", + "abnormal shape of forehead", + "sloped forehead", "abnormal forehead morphology", - "abnormally localised anatomical entity", - "Micrognathia", - "aplasia or hypoplasia of mandible", - "decreased size of the mandible", + "jaw skeleton", "aplasia or hypoplasia of skull", - "facial bone hypoplasia", - "Aplasia/Hypoplasia involving bones of the skull", "mandible hypoplasia", "anatomical entity hypoplasia in face", - "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "Facial asymmetry", - "abnormal sensory perception of sound", + "bone of lower jaw", + "Micrognathia (HPO)", + "Hypoplastic facial bones (HPO)", + "dentary", + "facial bone hypoplasia", + "decreased biological_process in independent continuant", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "Abnormal mandible morphology (HPO)", + "aplasia or hypoplasia of mandible", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal asymmetry of anatomical entity", "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", + "Hearing impairment (HPO)", + "Abnormality of vision (HPO)", + "visual perception", + "sensory perception", + "decreased qualitatively visual perception", + "Proptosis (HPO)", + "Microphthalmia (HPO)", "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "Cryptorchidism", - "Nystagmus", - "abnormality of ear physiology", - "Abnormal vestibular function", - "abnormal vestibulo-ocular reflex", + "Abnormality of globe size (HPO)", "abnormal internal ear", - "abnormal female reproductive system", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "Abnormal involuntary eye movements (HPO)", + "Abnormal vestibulo-ocular reflex (HPO)", + "Vestibular dysfunction (HPO)", + "Strabismus (HPO)", + "Functional abnormality of the inner ear (HPO)", + "internal ear", + "Abnormality of eye movement (HPO)", + "Abnormality of the inner ear (HPO)", + "abnormality of ear physiology", + "abnormality of internal ear physiology", + "abnormal eye movement", + "female reproductive system", + "female organism", "shape uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "Abnormality of the uterus", + "internal female genitalia", + "sensory perception of sound", + "female reproductive organ", + "uterus", + "skin of eyelid", + "bicornuate anatomical entity", + "Abnormal morphology of female internal genitalia (HPO)", + "bicornuate uterus", + "decreased qualitatively sensory perception of sound", + "subdivision of oviduct", "abnormal uterus", - "abnormal phalanx of manus morphology", - "Abnormal finger phalanx morphology", - "Abnormality of thumb phalanx", - "Triphalangeal thumb", - "increased reflex", - "Hyperreflexia", + "Abnormal uterus morphology (HPO)", + "manual digit 1 plus metapodial segment", + "skeleton of manual acropodium", + "abnormally decreased functionality of the gonad", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "Abnormal finger phalanx morphology (HPO)", + "manual digit 1 phalanx endochondral element", + "phalanx of manus", + "Abnormal thumb morphology (HPO)", + "body part movement", + "voluntary movement behavior", + "decreased qualitatively pigmentation in independent continuant", "abnormal behavior", + "Abnormality of movement (HPO)", + "Behavioral abnormality (HPO)", + "Hyperreflexia (HPO)", + "neuromuscular process", + "Visual impairment (HPO)", + "voluntary musculoskeletal movement", + "behavior process", + "reflex", + "abnormal response to external stimulus", "abnormal musculoskeletal movement", - "increased qualitatively response to stimulus", + "multicellular organismal movement", + "abnormal voluntary movement behavior", "decreased embryo development", - "abnormal embryo development", - "Intrauterine growth retardation", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal umbilicus morphology", - "Abnormality of connective tissue", - "shape forehead", - "herniated abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Intrauterine growth retardation (HPO)", + "connective tissue", + "abdominal viscera", + "biogenic amine secreting cell", + "changed embryo development rate", + "abdominal wall", + "abnormal incomplete closing of the abdominal wall", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal cardiac atrium morphology (HPO)", + "Abnormality of the ureter (HPO)", + "interatrial septum", + "Atrial septal defect (HPO)", + "Abnormal atrial septum morphology (HPO)", + "abnormal cardiac atrium morphology", "abnormal interatrial septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "Abnormal cardiac septum morphology", + "Abnormal heart valve physiology (HPO)", + "interventricular septum", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", + "hypertrophic heart right ventricle", + "Abnormal cardiac ventricle morphology (HPO)", + "Abnormality of the uterus (HPO)", + "Abnormal pulmonary valve physiology (HPO)", + "abnormal incomplete closing of the interventricular septum", + "Overriding aorta (HPO)", + "abnormal size of heart right ventricle", "abnormally increased volume of anatomical entity", - "Tetralogy of Fallot", - "abnormal heart right ventricle morphology", - "Ventricular hypertrophy", - "Right ventricular hypertrophy", + "Tetralogy of Fallot (HPO)", + "abnormal pulmonary valve morphology", + "abnormal cardiac ventricle morphology in the heart", + "cardiac septum", + "Pulmonic stenosis (HPO)", + "right cardiac chamber", + "decreased qualitatively biological_process in independent continuant", + "abnormal behavior process", + "constricted pulmonary valve", + "abnormal cardiac ventricle morphology in the independent continuant", "abnormal cardiac septum morphology", - "Overriding aorta", - "abnormal interventricular septum morphology", - "abnormally decreased functionality of the anatomical entity", + "anatomical entity dysfunction in independent continuant", + "myocardium", + "Abnormal myocardium morphology (HPO)", "abnormally decreased functionality of the myocardium", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", - "abnormal aortic valve morphology", - "abnormal anatomical entity morphology in the heart", - "abnormal outflow part of left ventricle morphology", - "abnormal eye movement", + "abnormally decreased functionality of the anatomical entity", + "Hypertrophic cardiomyopathy (HPO)", + "abnormal coronary vessel morphology", + "conceptus", + "abnormal systemic artery morphology", + "vasculature of organ", + "vasculature of trunk", + "heart blood vessel", + "abnormal artery morphology", + "thoracic segment blood vessel", "abnormal artery morphology in the independent continuant", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "Abnormal aortic morphology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "flat longitudinal arch of pes", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", - "Abnormal calvaria morphology", - "abnormal neurocranium morphology", - "Abnormal cerebral cortex morphology", - "abnormally protruding anatomical entity", - "Abnormal shape of the frontal region", - "flat anatomical entity", - "abnormal cerebral cortex morphology", + "Congenital malformation of the great arteries (HPO)", + "embryonic cardiovascular system", + "abnormal ductus arteriosus morphology", + "Unusual infection (HPO)", + "outflow tract", + "abnormal embryo development", + "abnormal abdominal wall", + "abnormal cardial valve morphology in the independent continuant", + "lower jaw region", + "abnormal uterus morphology", + "valve", + "aplasia or hypoplasia of radius bone", + "Abnormal aortic valve morphology (HPO)", + "semi-lunar valve", + "cardiac ventricle", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "outflow tract of ventricle", + "heart plus pericardium", + "outflow part of left ventricle", + "aortic system", + "abnormal aorta morphology", + "Abnormal aortic morphology (HPO)", + "thoracic cavity blood vessel", + "great vessel of heart", + "flattened anatomical entity", + "flat anatomical entity in independent continuant", + "Toe syndactyly (HPO)", + "abnormal facial skeleton morphology", + "Aplasia/Hypoplasia of the radius (HPO)", + "Frontal bossing (HPO)", + "central nervous system gray matter layer", + "dermal bone", + "pallium", + "facial skeleton", + "central nervous system cell part cluster", "abnormal shape of frontal cortex", + "frontal cortex", + "cortex of cerebral lobe", + "neurocranium", + "secretory cell", + "bone of craniocervical region", + "heart layer", + "intramembranous bone", + "Ventricular hypertrophy (HPO)", + "membrane bone", + "abnormal forehead", "abnormal frontal cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", + "cerebral hemisphere gray matter", + "forehead", + "abnormal tetrapod frontal bone morphology", + "Abnormal facial skeleton morphology (HPO)", + "abnormal cerebral cortex morphology", + "primary subdivision of cranial skeletal system", + "abnormal spatial pattern of anatomical entity", + "vault of skull", + "dermal skeleton", + "dermatocranium", + "cerebral hemisphere", + "Abnormality of calvarial morphology (HPO)", "abnormal vault of skull", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal size of heart right ventricle", - "Meckel diverticulum", + "abnormal ileum morphology", + "Abnormal ileum morphology (HPO)", + "ganglion of peripheral nervous system", + "decreased pigmentation in independent continuant", + "neocortex", + "parasympathetic ganglion", + "Bicornuate uterus (HPO)", + "autonomic nervous system", + "abnormal ganglion of peripheral nervous system", + "Abnormal platelet morphology (HPO)", + "Abnormality of enteric ganglion morphology (HPO)", "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal ganglion morphology", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Hernia", - "Vertebral arch anomaly", - "decreased biological_process in skin of body", + "platelet", + "enteric ganglion", + "Abnormal autonomic nervous system morphology (HPO)", + "Aganglionic megacolon (HPO)", + "decreased length of palpebral fissure", + "abnormal parasympathetic ganglion morphology", "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "abnormal vertebral column morphology", - "Spinal dysraphism", - "Abnormal vertebral morphology", - "Abnormal spinal cord morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "abnormal bony vertebral centrum morphology", - "abnormal opening of the anatomical entity", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "abnormal neural tube morphology", - "Neural tube defect", - "abnormal shape of forehead", + "abnormal ganglion", + "involuntary movement behavior", + "abnormal enteric nervous system morphology", + "dorsal region element", + "neural tube", + "presumptive structure", + "reflexive behavior", "abnormal tube formation", + "Abnormality of the spinal cord (HPO)", + "manual digit 1", + "neural tube closure", + "chordate embryonic development", + "spinal cord", + "Spinal dysraphism (HPO)", + "abnormal heart morphology", + "tube development", + "embryonic morphogenesis", + "tube morphogenesis", + "bony vertebral centrum", + "irregular bone", + "Increased head circumference (HPO)", + "future central nervous system", + "vertebral centrum element", + "arch of centrum of vertebra", + "vertebral element", + "abnormal neural tube morphology", + "Vertebral arch anomaly (HPO)", + "cerebral cortex", + "gray matter of forebrain", "abnormal incomplete closing of the arch of centrum of vertebra", - "abnormal size of palpebral fissure", + "neural tube formation", + "primary neural tube formation", + "abnormal development of anatomical entity", + "Neural tube defect (HPO)", + "embryonic structure", + "developing anatomical structure", + "decreased size of the mandible", + "Patent ductus arteriosus (HPO)", + "Abnormality of enteric nervous system morphology (HPO)", + "Abnormal form of the vertebral bodies (HPO)", + "abnormal vertebral column morphology", + "epithelium development", + "morphogenesis of an epithelium", + "epithelial tube morphogenesis", + "embryo development ending in birth or egg hatching", + "shape longitudinal arch of pes", + "embryo development", + "dorsum", + "Abnormal vertebral morphology (HPO)", + "abnormal vertebra morphology", + "anatomical structure development", + "anatomical structure morphogenesis", + "Spina bifida (HPO)", + "bone of hip region", + "Abnormal morphology of the great vessels (HPO)", + "hindlimb stylopod", "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormality of femur morphology", + "upper leg bone", + "abnormal voluntary musculoskeletal movement", + "Abnormality of femur morphology (HPO)", + "femur endochondral element", + "leg bone", "abnormal femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal synovial joint morphology", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "anatomical entity dislocation", - "Joint dislocation", - "Abnormal joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Lower extremity joint dislocation", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Aplasia/hypoplasia involving forearm bones", - "Sloping forehead", + "sensory perception of mechanical stimulus", + "hip", + "neurocranium bone", + "pelvic girdle bone/zone", + "vestibulo-ocular reflex", + "Abnormal hip joint morphology (HPO)", + "Abnormal joint morphology (HPO)", + "articulation", + "abnormal phalanx morphology", + "tetrapod frontal bone", + "limb joint", + "pelvic region element", + "excretory tube", + "hip joint", + "abnormal synovial joint", + "girdle bone/zone", + "abnormal hindlimb joint", + "Abdominal wall defect (HPO)", + "Right ventricular hypertrophy (HPO)", + "zone of bone organ", + "skeletal joint", + "girdle skeleton", + "Abnormality of pelvic girdle bone morphology (HPO)", + "Lower extremity joint dislocation (HPO)", + "Abnormal hip bone morphology (HPO)", + "appendage girdle region", + "neural tube development", + "articular system", "decreased size of the ulna", - "Forearm undergrowth", - "forelimb zeugopod bone hypoplasia", - "decreased size of the anatomical entity in the pectoral complex", + "anatomical entity hypoplasia", + "ulna hypoplasia", "decreased length of anatomical entity in independent continuant", - "Hypoplasia of the ulna", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Aplasia/Hypoplasia affecting the uvea", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", - "abnormal iris morphology", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal penis", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal limb morphology", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal voluntary movement behavior", - "Abnormal forearm bone morphology", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", - "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormal skeletal morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "Ventriculomegaly", - "sloped anatomical entity", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "Abnormality of cardiovascular system morphology", + "decreased length of forelimb zeugopod bone", + "aplasia or hypoplasia of ulna", + "Aplasia/Hypoplasia of the ulna (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "Forearm undergrowth (HPO)", + "decreased size of the anatomical entity", + "abnormal myocardium morphology", + "Short long bone (HPO)", + "decreased length of long bone", + "bone element hypoplasia in independent continuant", + "Short forearm (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "musculoskeletal movement", + "digit 1 or 5", + "aorta", + "manual digit 5", + "manual digit 1 or 5", + "Abnormality of metabolism/homeostasis (HPO)", + "tube closure", + "digit 5 plus metapodial segment", + "Abnormal 5th finger morphology (HPO)", + "abnormal manual digit 5 morphology", + "Decreased bone element mass density", + "cardiac atrium", + "Reduced bone mineral density (HPO)", + "Abnormality of the abdominal wall (HPO)", + "ossification", + "Abnormality of bone mineral density (HPO)", + "Decreased anatomical entity mass density", + "Finger syndactyly (HPO)", + "abnormal anatomical entity morphology in the manus", + "abnormally fused digit and anatomical entity", + "abnormally fused manual digit and manual digit", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Aplasia/hypoplasia of the extremities (HPO)", + "Abnormality of the hand (HPO)", + "abnormal manus", + "tissue morphogenesis", + "abnormal manus morphology", + "manus", + "segment of manus", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Abnormality of finger (HPO)", + "peripheral nervous system", + "paralysed cranial nerve", + "abnormal biological_process", + "Cranial nerve paralysis (HPO)", + "Abnormal myeloid cell morphology (HPO)", + "abnormal vasculature", + "nerve of head region", + "Abnormal bone structure (HPO)", + "abnormality of internal male genitalia physiology", + "abnormal brain ventricle/choroid plexus morphology", + "multi cell part structure", "abnormal respiratory system", - "abnormal bone of pectoral complex morphology", - "abnormal embryo morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal vascular system morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", - "Neurodevelopmental abnormality", - "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", - "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal ileum morphology", + "oral cavity", + "Abnormality of the peripheral nervous system (HPO)", + "paralysed anatomical entity", + "lobe of cerebral hemisphere", + "Abnormal cranial nerve physiology (HPO)", + "cranial neuron projection bundle", + "abnormal aortic valve morphology", + "abnormality of cranial nerve physiology", "increased qualitatively biological_process in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", - "abnormal central nervous system morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", - "abnormal manus", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormal cerebrospinal fluid morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", + "Multiple cafe-au-lait spots (HPO)", + "increased pigmentation in independent continuant", + "pigmentation", + "manual digitopodium bone", + "increased biological_process in independent continuant", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "Abnormality of the skin (HPO)", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "increased pigmentation in skin of body", + "epithelial tube formation", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Localized skin lesion (HPO)", + "pelvic girdle skeleton", + "Abnormal peripheral nervous system morphology (HPO)", + "decreased length of anatomical entity", + "Abnormal uvea morphology (HPO)", + "abnormal kidney morphology", + "anterior uvea", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "abnormal internal female genitalia morphology", + "Aplasia/Hypoplasia affecting the anterior segment of the eye (HPO)", + "abnormal anterior segment of eyeball morphology", + "thoracic segment of trunk", + "abnormally formed anatomical entity in independent continuant", + "Abnormality of the autonomic nervous system (HPO)", + "abnormally formed anatomical entity", + "abnormal soft palate", + "abnormally fused anatomical entity and anatomical entity", + "Abnormal cellular immune system morphology (HPO)", + "aplasia or hypoplasia of palatine uvula", + "soft palate", + "roof of mouth", + "abnormal response to stimulus", + "morphological feature", "abnormal location of anatomical entity", - "abnormal anatomical entity", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "shape cornea", - "abnormal artery morphology", - "Abnormal forearm morphology", + "abnormal oral cavity morphology", + "Abnormal hand morphology (HPO)", + "trachea", + "mouth", + "Abnormal heart valve morphology (HPO)", + "midface", + "Aplasia/Hypoplasia of the uvula (HPO)", + "systemic arterial system", + "anatomical projection", + "abnormal size of multicellular organism", + "abnormal mouth morphology", + "Abnormal conjugate eye movement (HPO)", + "abnormal midface", + "haemolymphatic fluid", + "Decreased fertility in males (HPO)", + "integument", + "abnormally fused pedal digit and pedal digit", + "Decreased fertility (HPO)", + "hindlimb joint", + "abnormal late embryo", + "cavitated compound organ", + "abnormal upper urinary tract", + "abnormal multicellular organismal reproductive process", + "root", + "malformed anatomical entity", + "septum", + "autopodial skeleton", + "pelvic girdle region", + "individual digit of digitopodial skeleton", + "Abnormal renal physiology (HPO)", "abnormal bone of pelvic complex morphology", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "Microphthalmia", - "abnormal external ear morphology", - "abnormal vein morphology", - "Decreased body weight", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "Abnormal small intestine morphology", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", - "abnormal cornea, asymmetrically curved", - "curvature anatomical entity", - "abnormal pes morphology", - "increased height of the anatomical entity", - "Limb undergrowth", - "abnormal upper urinary tract", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", - "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", - "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "Morphological abnormality of the gastrointestinal tract", - "abnormal reproductive system morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", - "abnormality of male reproductive system physiology", - "abnormal gamete generation", - "abnormality of camera-type eye physiology", - "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "Abnormal cardiac atrium morphology", - "Intellectual disability", - "Abnormal penis morphology", - "Abnormal tracheobronchial morphology", - "hypertrophic multicellular anatomical structure", + "abnormal pedal digit", + "longitudinal arch of pes", + "pedal digitopodium region", + "leukocyte", + "clavate anatomical entity", + "Abnormality of ganglion (HPO)", + "abnormal skin of body", + "concave 3-D shape anatomical entity", + "decreased size of the anatomical entity in the pectoral complex", + "leg", + "facial bone", + "abnormal digit", + "sensory system", + "pedal digit bone", + "ventricular system of central nervous system", + "acropodium region", + "anatomical system", + "pedal digitopodium bone", "abnormal kidney", - "abnormal reproductive system", - "abnormal internal genitalia", - "abnormal male reproductive organ morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "decreased developmental process", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Recurrent infections", - "asymmetrically curved cornea", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "decreased length of long bone", - "curved anatomical entity", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", + "acropodial skeleton", + "trunk blood vessel", + "bone of pelvic complex", + "Hypoplasia of the ulna (HPO)", + "blood", + "Clubbing of toes (HPO)", + "Abnormality of peripheral nerves (HPO)", + "primary subdivision of skull", + "pedal digit phalanx endochondral element", + "ganglion", + "abnormal pigmentation in independent continuant", + "abnormal anterior chamber of eyeball morphology", "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "Slanting of the palpebral fissure", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal phenotype by ontology source", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormal developmental process", - "abnormal secondary palate morphology", - "Abnormal cornea morphology", - "Abnormal form of the vertebral bodies", - "entity", - "absent sperm in the independent continuant", - "abnormal anatomical entity, curved", - "abnormal spatial pattern of anatomical entity", - "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", - "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased biological_process in multicellular organism", - "quality", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", - "Hypertrophic cardiomyopathy", - "absent anatomical entity in the multicellular organism", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "abnormal gamete", - "Abnormality of the outer ear", - "Absent testis", - "abnormal face morphology", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", - "abnormal shape of continuant", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal head", - "abnormal cell", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormal spermatogenesis", - "Clubbing of toes", - "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", - "decreased spermatogenesis", - "abnormal kidney morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal visual perception", - "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "abnormal digestive system", - "abnormal craniocervical region morphology", - "abnormal cornea morphology", - "continuant", - "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "absent gamete", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", - "abnormality of nervous system physiology", - "Abnormal external genitalia", - "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", - "curved anatomical entity in independent continuant", - "bicornuate anatomical entity", - "anatomical entity hypoplasia in independent continuant", + "autopod endochondral element", + "autopod bone", + "hindlimb skeleton", "shape anatomical entity", - "abnormal vasculature", - "changed developmental process rate", - "abnormal genitourinary system", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "abnormal myocardium morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal male reproductive system physiology", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "Abnormal eye physiology", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", - "abnormal tracheobronchial tree morphology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", + "Clubbing (HPO)", + "prominent anatomical entity", + "Abnormal lower limb bone morphology (HPO)", + "Abnormality of the midface (HPO)", + "hindlimb long bone", + "abnormal integument", + "Abnormality of the genital system (HPO)", + "Abnormal digit morphology (HPO)", + "Abnormality of the lower limb (HPO)", + "abnormally formed anterior chamber of eyeball", + "Abnormal size of the palpebral fissures (HPO)", + "digit plus metapodial segment", + "tube formation", + "Abnormality of toe (HPO)", + "abnormal intestine morphology", + "Abnormality of the urinary system physiology (HPO)", + "Small intestinal stenosis (HPO)", + "Aplasia/Hypoplasia of facial bones (HPO)", + "Abnormality of limbs (HPO)", + "Duodenal stenosis (HPO)", + "Hydrocephalus (HPO)", + "internal genitalia", + "pes bone", + "abnormal multicellular organism morphology", + "duodenum", + "small intestine", + "Absent testis (HPO)", + "constricted duodenum", + "delayed growth", + "abnormal spinal cord", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", + "increased anatomical entity length in independent continuant", + "abnormal location of eyeball of camera-type eye", + "immaterial entity", + "Renal hypoplasia/aplasia (HPO)", + "nerve", + "abnormal duodenum morphology", + "non-material anatomical boundary", + "abnormal visual perception", "increased length of the anatomical line between pupils", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal anus", - "Atypical behavior", - "increased size of the brain ventricle", - "Anal atresia", - "abnormal small intestine", - "Abnormality of the anus", - "Weight loss", - "Abnormality of the forehead", + "chamber of eyeball", + "male germ cell", + "anatomical line", + "future nervous system", + "aplasia or hypoplasia of uvea", + "hypothalamus-pituitary axis", + "Abnormality of the female genitalia (HPO)", + "abnormal hypothalamus-pituitary axis", + "synovial joint of pelvic girdle", + "pes", + "abnormal sensory perception of sound", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "nervous system process", + "exocrine system", + "circulatory organ", + "abnormality of male reproductive system physiology", + "glandular system", + "kinesthetic behavior", + "flattened anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "Finger clinodactyly (HPO)", + "blood vessel", + "hepatobiliary system", + "anatomical space", + "intestine", + "Abnormality of the endocrine system (HPO)", + "manual digit bone", + "limb long bone", "abnormal prepuce of penis morphology", + "abnormal endocrine system", + "sloped anatomical entity", + "Abnormal anterior chamber morphology (HPO)", + "liver", + "amniotic fluid", + "increased size of the anatomical entity", + "Irregular hyperpigmentation (HPO)", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "abnormal size of brain ventricle", + "synovial joint", + "Myelodysplasia (HPO)", + "ileum", + "Aplasia/Hypoplasia of the testes (HPO)", + "abnormal peripheral nervous system", + "Abnormal eyelid morphology (HPO)", + "Neoplasm (HPO)", + "Hematological neoplasm (HPO)", + "hemolymphoid system", + "regional part of brain", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal cardial valve morphology", + "nucleate cell", + "skeleton of pes", + "stylopod", + "organ part", + "immune system", + "abnormal umbilicus morphology", + "Abnormal leukocyte morphology (HPO)", + "Abnormality of the eye (HPO)", + "hematopoietic cell", + "increased pigmentation", + "abnormal hematopoietic system", + "Abnormality of the forehead (HPO)", + "trunk bone", + "Leukopenia (HPO)", + "Decreased body weight (HPO)", + "abnormal immune system", + "erythroid lineage cell", + "Hernia (HPO)", + "pulmonary valve", + "flat bone", + "hematopoietic system", + "Abnormal neural tube morphology (HPO)", + "Abnormal duodenum morphology (HPO)", + "Macule (HPO)", + "abnormal forebrain morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormal soft palate morphology (HPO)", + "erythrocyte", + "telencephalon", + "Abnormality of prenatal development or birth (HPO)", + "embryonic tissue", + "Opisthokonta", "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "Abnormal pulmonary valve physiology", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "abnormal growth", - "abnormal cornea, curved", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormal lens morphology", - "opaque anatomical entity", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "drooping eyelid", + "segment of autopod", + "Eumetazoa", + "abnormal size of skull", + "Clinodactyly (HPO)", + "abnormal pes morphology", + "organism", + "trunk", + "Abnormality of the ulna (HPO)", + "pedal digit", + "abnormal size of anatomical entity", + "Microcephaly (HPO)", + "frontal lobe", + "ventricle of nervous system", + "pedal digit plus metapodial segment", + "abnormal biological_process in independent continuant", + "metabolic process", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "abnormal pigmentation", + "lower respiratory tract", + "Abnormality of forebrain morphology (HPO)", + "shape cornea", + "transudate", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "manual digit 1 digitopodial skeleton", + "abnormal vertebral column", + "vertebral column", + "Scoliosis (HPO)", + "Abnormality of the curvature of the vertebral column (HPO)", + "Abnormal ventriculoarterial connection (HPO)", + "Abnormal shape of the palpebral fissure (HPO)", + "tissue development", + "shape palpebral fissure", + "layer of muscle tissue", + "head bone", + "urethral meatus", + "Nystagmus (HPO)", + "Deviation of the hand or of fingers of the hand (HPO)", + "Abnormality of the urinary system (HPO)", + "renal system", + "lower urinary tract", + "abnormal respiratory system morphology", + "glans penis", + "eyelid", + "autopodial extension", + "male urethra", + "camera-type eye", + "urethral opening", + "Displacement of the urethral meatus (HPO)", + "Renal insufficiency (HPO)", + "abnormal testis morphology", + "male urethral meatus", + "abnormal sensory perception", + "abnormal cardial valve morphology in the heart", + "abnormal urethra", + "Abnormal immune system morphology (HPO)", + "Abnormality of the lower urinary tract (HPO)", + "abnormal renal system", + "phalanx of pes", + "eye movement", + "Abnormality of the nose (HPO)", + "abnormal asymmetry of face", + "Abnormal palate morphology (HPO)", + "internal naris atresia", + "non-connected functional system", + "internal naris", + "abnormal physiologic nystagmus", + "skeleton of pelvic complex", + "respiratory airway", + "kidney", + "chemosensory system", + "abnormal lower urinary tract", "posterior nasal aperture atresia", - "Choanal atresia", - "Abnormal axial skeleton morphology", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Short long bone", - "abnormal palpebral fissure", - "anus atresia", + "Abnormal foot morphology (HPO)", + "regional part of nervous system", + "orifice of skull", + "olfactory organ", + "naris", "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", + "abnormal ureter", + "abnormal palpebral fissure", + "gland", + "abnormal cardiac atrium morphology in the heart", + "abnormal postcranial axial skeleton morphology", + "axial skeleton plus cranial skeleton", + "axial skeletal system", "abnormal posterior nasal aperture morphology", - "Abnormality of the orbital region", + "Abnormal bone ossification (HPO)", + "Abnormality of the urethra (HPO)", + "nose", + "increased qualitatively response to stimulus", + "endocrine system", + "skull", + "Abnormality of the choanae (HPO)", + "Abnormal platelet count (HPO)", + "drooping eyelid", + "drooping anatomical entity", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Meckel diverticulum (HPO)", + "pelvic region of trunk", + "Abnormality of the mouth (HPO)", + "Ptosis (HPO)", + "abnormal secondary palate morphology", + "abnormal lens of camera-type eye", + "hindlimb", + "Decreased multicellular organism mass", + "decreased anatomical entity mass", + "growth", + "abnormal digestive system", + "Abnormal male urethral meatus morphology (HPO)", + "Abnormality of digestive system morphology (HPO)", + "Weight loss (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "abnormally fused anatomical entity and digit", + "posterior nasal aperture", + "abnormal external genitalia", + "Growth abnormality (HPO)", + "eukaryotic cell", + "abnormality of multicellular organism mass", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "Astigmatism (HPO)", + "abdomen", + "anus atresia", + "abnormality of kidney physiology", + "enteric nervous system", + "anatomical entity atresia", + "abnormal anus", + "Abnormality of the anus (HPO)", + "Anorectal anomaly (HPO)", + "abnormal interventricular septum morphology", + "abnormal anatomical entity morphology in the heart", + "prepuce", + "Anal atresia (HPO)", + "abnormal anus morphology", + "Abnormality iris morphology (HPO)", + "Abnormal systemic arterial morphology (HPO)", + "abnormal shape of continuant", + "abnormal systemic arterial system morphology", + "abnormal common carotid artery plus branches morphology", + "decreased size of the eyeball of camera-type eye", + "Abnormal skull morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "common carotid artery plus branches", + "abnormal bony vertebral centrum morphology", + "skeletal element", + "increased reflex", + "forelimb", + "zeugopod", + "limb endochondral element", "abnormal nerve", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "Abnormality of the choanae", + "musculoskeletal system", + "abnormal limb", + "abnormal arm", + "cranial bone", + "Abnormality of the amniotic fluid (HPO)", + "Umbilical hernia (HPO)", + "abnormal cardiac ventricle morphology", + "glans", + "paired limb/fin skeleton", + "abnormal long bone morphology", + "Hypertelorism (HPO)", + "Abnormal forearm bone morphology (HPO)", + "heart vasculature", + "arm", + "abnormally fused manual digit and anatomical entity", + "endochondral bone", + "skeleton of lower jaw", + "bone of appendage girdle complex", + "digit 1", + "upper jaw region", + "Abnormal oral morphology (HPO)", + "forelimb zeugopod skeleton", + "Recurrent infections (HPO)", + "organism subdivision", + "vestibulo-auditory system", + "integumental system", + "abnormal forelimb zeugopod bone morphology", + "response to stimulus", + "brain gray matter", + "forelimb endochondral element", + "secondary palate", + "abnormal manual digit 1 morphology", + "male reproductive system", + "visual system", + "thoracic segment organ", + "limb bone", + "Abnormality of the immune system (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Cognitive impairment (HPO)", + "postcranial axial skeleton", + "hypertrophic cardiac ventricle", "abnormal internal naris", - "decreased pigmentation in independent continuant", - "Hypospadias", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "abnormal renal system", - "abnormal urethra", - "Displacement of the urethral meatus", - "Morphological central nervous system abnormality", - "abnormal anus morphology", - "Abnormality of the urinary system", - "Abnormality of the lower urinary tract", - "Abnormal shape of the palpebral fissure", - "abnormal shape of palpebral fissure", - "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormality of the vertebral column", - "Macule", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", - "Scoliosis", - "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "Abnormal forebrain morphology", - "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Leukopenia", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "Abnormal uterus morphology", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "abnormally decreased number of cell in the independent continuant", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal immune system", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormally decreased number of hematopoietic cell", - "abnormal hematopoietic system", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Myelodysplasia", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Frontal bossing", - "abnormal size of brain ventricle", + "abnormal incomplete closing of the interatrial septum", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "multi-limb segment region", + "High palate (HPO)", + "bodily fluid", + "abnormal anatomical entity morphology in the pectoral complex", + "Morphological central nervous system abnormality (HPO)", + "upper limb segment", + "immune system process", + "tunica fibrosa of eyeball", + "abnormal developmental process", + "bone of pectoral complex", + "abnormal ulna morphology", + "Oligohydramnios (HPO)", + "Abnormal skeletal morphology (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "Abnormal reflex (HPO)", + "Deviation of finger (HPO)", + "appendicular skeleton", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "motile cell", + "Abnormality of limb bone (HPO)", + "pedal digit digitopodial skeleton", + "abnormal anatomical entity", + "paired limb/fin", + "Abnormality of limb bone morphology (HPO)", + "abnormal great vessel of heart morphology", + "abnormal appendicular skeleton morphology", + "increased biological_process", + "arm bone", + "abnormal limb long bone morphology", + "embryonic epithelial tube formation", + "abnormality of camera-type eye physiology", + "cranial nerve", + "abnormal incomplete closing of the anatomical entity", + "pectoral appendage", + "nervous system cell part layer", + "skeleton", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of reproductive system physiology (HPO)", + "abnormal opening of the anatomical entity", + "abnormal limb bone morphology", + "vasculature", + "Abnormal nervous system morphology (HPO)", + "abnormal skeletal system", + "homeostasis of number of cells", + "embryo", + "appendage", + "obsolete cell", + "male reproductive organ", + "Abnormal nervous system physiology (HPO)", + "Abnormality of cardiovascular system morphology (HPO)", + "Cleft palate (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "multi organ part structure", + "Abnormal venous morphology (HPO)", + "Abnormality of the cardiovascular system (HPO)", + "iris", + "Abnormality of the vasculature (HPO)", + "Abnormality of the vertebral column (HPO)", + "umbilicus", + "vascular system", + "cranium", + "abnormal bone of pectoral complex morphology", + "abnormal phalanx of manus morphology", + "arterial system", + "abnormal head bone morphology", + "abnormal leg", + "abnormal nose", + "long bone", + "Abnormal cerebral cortex morphology (HPO)", + "abnormal internal male genitalia", + "vein", + "abnormality of anatomical entity physiology", + "artery", + "increased size of the anatomical entity in independent continuant", + "Recurrent urinary tract infections (HPO)", + "protein-containing material entity", + "dermal skeletal element", + "Abnormality of the ear (HPO)", + "nervous system development", + "biological_process", + "Abnormal connection of the cardiac segments (HPO)", + "sexual reproduction", + "abnormal anatomical entity, curved", + "subdivision of skeleton", + "anatomical cluster", + "viscus", + "arterial blood vessel", + "esophagus", + "digit 5", + "venous blood vessel", + "Hernia of the abdominal wall (HPO)", + "epithelial tube", + "abnormal digestive system morphology", + "quality", + "manual digit digitopodial skeleton", + "asymmetrically curved anatomical entity", + "forelimb zeugopod bone", + "penis", + "Abnormal penis morphology (HPO)", + "abnormal head morphology", + "Hypermelanotic macule (HPO)", + "constricted anatomical entity", + "limb", + "Abnormality of brain morphology (HPO)", + "intromittent organ", + "system process", + "Abnormal blood vessel morphology (HPO)", + "organ component layer", + "Intellectual disability (HPO)", + "eye", + "Abnormal eye physiology (HPO)", + "endocrine gland", + "Neurodevelopmental abnormality (HPO)", + "abnormal iris morphology", + "tissue", + "Abnormality of mental function", + "paired limb/fin segment", + "urethra", + "central nervous system", + "abnormal pelvic girdle bone/zone morphology", + "skeleton of limb", + "shape forehead", + "abnormal soft palate morphology", + "morphogenesis of embryonic epithelium", + "palatine uvula", + "nervous system", + "abnormal vestibulo-ocular reflex", + "abnormal small intestine", + "Decreased anatomical entity mass", + "brain ventricle/choroid plexus", + "Abnormal appendicular skeleton morphology (HPO)", + "abnormal trachea morphology", + "upper digestive tract", + "Abnormality of the cerebrospinal fluid (HPO)", + "Abnormal ventricular septum morphology (HPO)", + "system", + "Abnormality of skull size (HPO)", + "cerebrospinal fluid", + "epithelium", + "process", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormality of anatomical entity mass", + "abnormal innominate bone morphology", + "bone element", + "Sloping forehead (HPO)", + "abnormal female reproductive system", + "abnormal nervous system morphology", + "mandible", + "zeugopodial skeleton", + "abnormal anatomical entity mass density", + "decreased developmental process", + "male gamete generation", + "upper urinary tract", "delayed biological_process", - "sloped forehead", - "Short forearm", - "abnormal biological_process", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", - "abnormal liver", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", - "hypertrophic cardiac ventricle", - "increased anatomical entity length in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", - "Hypertelorism", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", + "skeletal system", + "hindlimb endochondral element", + "Decreased head circumference (HPO)", + "abnormally increased number of brain ventricle in the independent continuant", + "lateral structure", + "manual digit plus metapodial segment", + "abnormal nervous system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", "abnormal anatomical entity topology in independent continuant", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Oligohydramnios", - "abnormal soft palate morphology", - "Abnormal duodenum morphology", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "Duodenal stenosis", - "abnormal intestine morphology", - "Abnormality of the lower limb", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal digit", + "limb segment", + "Dolichocephaly (HPO)", + "appendage girdle complex", + "Puberty and gonadal disorders (HPO)", + "Abnormal morphology of ulna (HPO)", + "Hydroureter (HPO)", + "innominate bone", + "abnormally increased number of anatomical entity", + "Abnormal preputium morphology (HPO)", + "decreased multicellular organism mass", + "physiologic nystagmus", + "Abnormality of skin morphology (HPO)", + "Abnormal cerebral ventricle morphology (HPO)", + "Epicanthus (HPO)", + "cardiovascular system", + "abdominal segment bone", "3-D shape anatomical entity", - "abnormal pedal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Almond-shaped palpebral fissure", + "Abnormality of the testis size (HPO)", + "Abnormality of refraction (HPO)", + "brain ventricle", + "disconnected anatomical group", + "ocular surface region", + "gamete", + "changed biological_process rate in independent continuant", + "Abnormality of the small intestine (HPO)", + "eyeball of camera-type eye", + "Abnormality of the curvature of the cornea (HPO)", + "Abnormal cornea morphology (HPO)", + "abnormal shape of cornea", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "skeleton of manus", + "abnormal shape of external ear", + "anterior segment of eyeball", + "bone element hypoplasia in face", + "blood vasculature", + "cornea", + "hindlimb bone", + "oviduct", + "Abnormal eye morphology (HPO)", + "reproductive organ", + "organism substance", + "digitopodium bone", + "forelimb zeugopod bone hypoplasia", + "Growth delay (HPO)", + "curvature anatomical entity in independent continuant", + "abnormal camera-type eye morphology", + "abnormal cornea, curved", + "anatomical structure", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal face", + "Abnormality of the lens (HPO)", + "Abnormal anterior eye segment morphology (HPO)", "shape digit", - "Clubbing", - "abnormal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "Abnormal midface morphology", - "abnormal male reproductive system", - "abnormal mouth morphology", - "abnormal oral cavity morphology", - "Hernia of the abdominal wall", - "Abnormal palate morphology", - "abnormal midface morphology", - "Abnormal soft palate morphology", - "clavate anatomical entity", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "abnormal integument", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "abnormal cardiac valve morphology in the heart", + "aplasia or hypoplasia of iris", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal limb bone", + "excretory system", + "abnormal skeletal joint morphology", + "Arteriovenous malformation (HPO)", + "aplasia or hypoplasia of telencephalon", + "abnormal brain morphology", + "abnormal cornea morphology", + "abnormal bone element mass density", + "manual digitopodium region", + "brain", + "digitopodium region", + "increased biological_process in skin of body", + "abnormal cornea, asymmetrically curved", + "Abnormal intestine morphology (HPO)", + "heart left ventricle", + "aplasia or hypoplasia of manual digit", + "tube", + "Abnormality of lower limb joint (HPO)", + "ulna endochondral element", + "Abnormality of the liver (HPO)", + "response to external stimulus", + "Abnormal respiratory system morphology (HPO)", + "abnormal brain ventricle morphology", + "autopod region", + "compound organ", + "clavate digit", + "Deviation of the 5th finger (HPO)", + "anatomical entity", + "pectoral complex", + "ulna", + "trunk region element", + "digestive system element", + "external soft tissue zone", + "gray matter", + "abnormal ocular adnexa morphology", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "Abnormal pulmonary valve morphology (HPO)", + "Abnormality of the calvaria (HPO)", + "respiratory tract", + "proximo-distal subdivision of respiratory tract", + "Sideroblastic anemia (HPO)", + "body proper", + "abnormal forelimb zeugopod", + "Abnormality of the digestive system (HPO)", + "hemopoiesis", + "femur", + "Metazoa", + "Neurodevelopmental delay (HPO)", + "multicellular organism reproduction", + "abnormal tracheobronchial tree morphology", + "subdivision of digestive tract", + "subdivision of tube", + "abdominal segment element", + "Abnormal tracheal morphology (HPO)", + "abnormal neural tube closure", + "Upper limb undergrowth (HPO)", + "digestive system", + "abnormal growth", + "Abnormal internal genitalia (HPO)", + "respiratory system", + "immaterial anatomical entity", + "Abnormal reproductive system morphology (HPO)", + "Abnormality of head or neck (HPO)", + "endochondral element", + "respiratory tube", + "abnormal blood vessel morphology", + "Ocular anterior segment dysgenesis (HPO)", + "curvature anatomical entity", + "Tracheoesophageal fistula (HPO)", + "skin of body", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "Abnormality of the phalanges of the toes (HPO)", + "multi-tissue structure", + "abnormal central nervous system morphology", + "Cryptorchidism (HPO)", + "abnormal closing of the anatomical entity", + "material entity", + "abnormal head", + "asymmetrically curved cornea", + "increased qualitatively biological_process", + "Abnormal localization of kidney (HPO)", + "anatomical line between pupils", + "system development", + "ocular adnexa", + "zone of skin", + "abnormal palatine uvula morphology", + "late embryo", + "abnormal external male genitalia", + "digestive tract", + "abnormal phalanx of pes", + "endoderm-derived structure", + "tracheobronchial tree", + "Hyperpigmentation of the skin (HPO)", + "abnormal cardiovascular system", + "Abnormality of the respiratory system (HPO)", + "Syndactyly (HPO)", + "pectoral appendage skeleton", + "male gamete", + "ectoderm-derived structure", + "Abnormal male reproductive system physiology (HPO)", + "Abnormality of thrombocytes (HPO)", + "Abnormal umbilicus morphology (HPO)", + "anatomical wall", + "Abnormal pinna morphology (HPO)", + "skeleton of pedal acropodium", + "abnormal shape of palpebral fissure", + "abnormal external ear morphology", + "abnormal reproductive system morphology", + "Conotruncal defect (HPO)", + "Cataract (HPO)", + "abnormal external ear", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal zone of skin morphology", + "digit 1 digitopodial skeleton", + "postcranial axial skeletal system", + "abnormal ear morphology", + "musculature of body", + "ventricular system of brain", + "reproductive system", + "Abnormal ear morphology (HPO)", + "joint of girdle", + "abnormal uvea morphology", + "Abnormality of globe location (HPO)", + "Abnormality of the gastrointestinal tract (HPO)", + "abnormal male reproductive organ morphology", + "male organism", + "skeleton of pedal digitopodium", + "abnormal reproductive process", + "transparent eye structure", + "lower limb segment", + "abnormal sensory perception of light stimulus", + "exocrine gland", + "abnormal esophagus morphology", + "lens of camera-type eye", + "behavior", + "anatomical conduit", + "Non-obstructive azoospermia (HPO)", + "abnormal incomplete closing of the ductus arteriosus", + "Abnormal spermatogenesis (HPO)", + "Abnormal oral cavity morphology (HPO)", + "abnormal skeletal system morphology", + "Joint dislocation (HPO)", + "internal male genitalia", + "occurrent", "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", + "Hypopigmented skin patches (HPO)", + "shape anatomical entity in independent continuant", + "cardiac chamber", + "changed developmental process rate", + "Abnormality of long bone morphology (HPO)", "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "paralysed cranial nerve", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormal peripheral nervous system morphology", - "Cranial nerve paralysis", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Aplasia/Hypoplasia of fingers", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", + "heart", + "Abnormality of the genitourinary system (HPO)", + "continuant", + "haploid cell", + "Short stature (HPO)", + "Upslanted palpebral fissure (HPO)", + "abnormal developmental process involved in reproduction", + "decreased biological_process in multicellular organism", + "hypertrophic multicellular anatomical structure", + "spermatogenesis", + "gray matter of telencephalon", + "parasympathetic nervous system", + "vertebra", + "prepuce of penis", + "abnormal liver", + "abnormally fused anatomical entity and pedal digit", + "Abnormality of ganglion of peripheral nervous system (HPO)", + "abnormality of nervous system physiology", + "abnormal enteric ganglion morphology", + "Abnormality of male external genitalia (HPO)", + "abnormality of anatomical entity height", + "abnormal genitourinary system", + "appendicular skeletal system", + "cranial nerve related reflex", + "abnormal anatomical entity morphology in the independent continuant", + "increased height of anatomical entity in independent continuant", + "germ cell", + "abnormality of cardiovascular system physiology", + "multicellular organism development", + "abnormal spermatogenesis", + "shape eyelid", + "craniocervical region", + "abnormal connective tissue", + "aortic valve", + "abnormal eyeball of camera-type eye", + "testis", + "Triphalangeal thumb (HPO)", + "forelimb long bone", + "Limb undergrowth (HPO)", + "cell", + "phenotype by ontology source", + "germ line cell", + "Abnormal heart morphology (HPO)", + "abnormal gamete generation", + "gamete generation", + "abnormal embryonic tissue morphology", + "subdivision of organism along appendicular axis", + "abnormal forelimb zeugopod bone", + "left cardiac chamber", + "abnormal vascular system morphology", + "increased height of the anatomical entity", + "external male genitalia", + "developmental process", + "multicellular organismal process", "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the eye", - "Finger clinodactyly", - "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "Abnormality of the skeletal system", - "Deviation of finger", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the ulna", - ], - "has_phenotype_count": 106, - "highlight": None, - "score": None, - }, - { - "id": "HGNC:26144", - "category": "biolink:Gene", - "name": "PALB2", - "full_name": "partner and localizer of BRCA2", - "deprecated": None, - "description": None, - "xref": ["ENSEMBL:ENSG00000083093", "OMIM:610355"], - "provided_by": "hgnc_gene_nodes", - "in_taxon": "NCBITaxon:9606", - "in_taxon_label": "Homo sapiens", - "symbol": "PALB2", - "synonym": ["FLJ21816", "FANCN", "Fanconi anemia, complementation group N"], - "uri": None, - "namespace": "HGNC", - "has_phenotype": [ - "HP:0000582", - "HP:0000470", - "HP:0000483", - "HP:0000377", - "HP:0000238", - "HP:0100615", - "HP:0010469", - "HP:0002017", - "HP:0002575", - "HP:0001249", - "HP:0001882", - "HP:0000508", - "HP:0001824", - "HP:0001824", - "HP:0000518", - "HP:0030406", - "HP:0000453", - "HP:0012432", - "HP:0005344", - "HP:0007874", - "HP:0002861", - "HP:0002861", - "HP:0000252", + "external genitalia", + "reproductive structure", + "abnormal semi-lunar valve morphology", + "anatomical structure formation involved in morphogenesis", + "abnormal reproductive system", + "animal cell", + "abnormality of reproductive system physiology", + "gonad", + "phalanx endochondral element", + "Abnormal ear physiology (HPO)", + "limb skeleton subdivision", + "ecto-epithelium", + "Abnormal upper limb bone morphology (HPO)", + "face", + "Pes planus (HPO)", + "abnormal craniocervical region", + "Hip dislocation (HPO)", + "decreased qualitatively biological_process", + "decreased biological_process", + "Choanal atresia (HPO)", + "olfactory system", + "abnormal cerebrospinal fluid", + "simple eye", + "abnormal peripheral nervous system morphology", + "ductus arteriosus", + "abnormal eyelid morphology", + "neuron projection bundle", + "abnormal heart right ventricle morphology", + "Abnormality of forearm bone (HPO)", + "semen", + "Abnormal facial shape (HPO)", + "curved anatomical entity in independent continuant", + "neural crest-derived structure", + "Abnormality of the abdominal organs (HPO)", + "anterior chamber of eyeball", + "Abnormal right ventricle morphology (HPO)", + "Abnormal leukocyte count (HPO)", + "increased size of the brain ventricle", + "Abnormal testis morphology (HPO)", + "multicellular organism", + "Abnormal uvula morphology (HPO)", + "decreased qualitatively pigmentation", + "abnormal ocular adnexa", + "abnormal vein morphology", + "flat anatomical entity", + "Abnormality of the kidney (HPO)", + "Abnormal external genitalia (HPO)", + "Abnormal cerebral morphology (HPO)", + "aplasia or hypoplasia of skeleton", + "Aplasia/Hypoplasia affecting the uvea (HPO)", + "developmental process involved in reproduction", + "heart right ventricle", + "cellular organisms", + "manual digit", + "main body axis", + "Abnormality of the integument (HPO)", + "segment of pes", + "multicellular organismal reproductive process", + "abdomen element", + "Abnormal vascular morphology (HPO)", + "subdivision of trunk", + "external ear", + "reproduction", + "abnormal cardiovascular system morphology", + "erythrocyte homeostasis", + "abnormal arch of centrum of vertebra", + "venous system", + "Abnormal renal morphology (HPO)", + "abnormal hip joint morphology", + "Hypospadias (HPO)", + "Abnormal axial skeleton morphology (HPO)", + "changed biological_process rate", + "material anatomical entity", + "Abnormality of connective tissue (HPO)", + "abnormal number of anatomical enitites of type anatomical entity", + "entity", + "Abnormal cardiovascular system physiology (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "cardiac valve", + "decreased spermatogenesis", + "digit 1 plus metapodial segment", + "abnormal ear", + "Hypogonadism (HPO)", + "sensory perception of light stimulus", + "somatic cell", + "Abnormal erythrocyte morphology (HPO)", + "Abnormal shape of the frontal region (HPO)", + "Abnormal frontal bone morphology (HPO)", + "Abnormality of male internal genitalia (HPO)", + "abnormal internal genitalia", + "anatomical collection", + "cranial skeletal system", + "Azoospermia (HPO)", + "curved anatomical entity", + "zone of organ", + "orifice", + "abnormal orbital region", + "abnormal male reproductive system", + "aplasia or hypoplasia of anatomical entity", + "primary circulatory organ", + "Abnormality of corneal shape (HPO)", + "decreased qualitatively reproductive process", + "native cell", + "uvea", + "increased size of the head", + "Abnormality of the palpebral fissures (HPO)", + "bone of free limb or fin", + "bone of jaw", + "organ", + "Anemia of inadequate production (HPO)", + "manual digit phalanx endochondral element", + "jaw region", + "Abnormality of thumb phalanx (HPO)", + "pelvic appendage skeleton", + "entire sense organ system", + "multicellular organismal-level homeostasis", + "manus bone", + "Abnormality of the male genitalia (HPO)", + "posterior region of body", + "anatomical cavity", + "Abnormal ocular adnexa morphology (HPO)", + "systemic artery", + "abnormal size of head", + "manual digit 5 plus metapodial segment", + "structure with developmental contribution from neural crest", + "skin of face", + "decreased qualitatively developmental process", + "pelvic complex", + "sperm", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "sense organ", + "circulatory system", + "Abnormality of the ocular adnexa (HPO)", + "flat longitudinal arch of pes", + "Abnormality of the face (HPO)", + "genitourinary system", + "multicellular anatomical structure", + "head", + "Ventricular septal defect (HPO)", + "subdivision of head", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "abnormal alimentary part of gastrointestinal system", + "3-D shape anatomical entity in independent continuant", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "abnormally fused pedal digit and anatomical entity", + "autonomic ganglion", + "palpebral fissure", + "ear", + "forelimb bone", + "Hearing abnormality (HPO)", + "cognition", + "abnormal anatomical entity morphology in the skeleton of manus", + "coronary vessel", + "abnormal anatomical entity, asymmetrically curved", + "phalanx", + "abnormally fused anatomical entity and manual digit", + "digestive system gland", + "Abnormality of the synovia (HPO)", + "Neoplasm by anatomical site (HPO)", + "abnormal penis", + "Cardiomyopathy (HPO)", + "thoracic cavity element", + "abnormal hard palate morphology", + "abnormal phenotype by ontology source", + "Abnormal cellular phenotype (HPO)", + "alimentary part of gastrointestinal system", + "abnormal amniotic fluid", + "phenotype", + "subdivision of organism along main body axis", + "radius endochondral element", + "abnormal respiratory tube morphology", + "reproductive process", + "cell development", + "All (HPO)", + "prominent forehead", + "Abnormality of the outer ear (HPO)", + "anterior region of body", + "vessel", + "Ventriculomegaly (HPO)", + "Phenotypic abnormality", + "abnormal ulna", + "orbital region", + "Abnormality of the upper urinary tract (HPO)", + ], + "has_phenotype_count": 106, + "highlight": None, + "score": None, + }, + { + "id": "HGNC:26144", + "category": "biolink:Gene", + "name": "PALB2", + "full_name": "partner and localizer of BRCA2", + "deprecated": None, + "description": None, + "xref": ["ENSEMBL:ENSG00000083093", "OMIM:610355"], + "provided_by": "hgnc_gene_nodes", + "in_taxon": "NCBITaxon:9606", + "in_taxon_label": "Homo sapiens", + "symbol": "PALB2", + "synonym": ["FLJ21816", "FANCN", "Fanconi anemia, complementation group N"], + "uri": None, + "namespace": "HGNC", + "has_phenotype": [ + "HP:0000582", + "HP:0000470", + "HP:0000483", + "HP:0000238", + "HP:0100615", + "HP:0010469", + "HP:0002017", + "HP:0002575", + "HP:0001249", + "HP:0001882", + "HP:0000508", + "HP:0001824", + "HP:0001824", + "HP:0000518", + "HP:0030406", + "HP:0000453", + "HP:0012432", + "HP:0005344", + "HP:0007874", + "HP:0002861", + "HP:0002861", + "HP:0000252", "HP:0000252", - "HP:0008053", "HP:0000952", "HP:0000957", "HP:0040071", @@ -5494,14 +8493,14 @@ def autocomplete(): "HP:0000316", "HP:0000316", "HP:0002910", - "HP:0001510", "HP:0002863", + "HP:0001562", "HP:0000864", "HP:0002254", "HP:0002119", "HP:0000027", "HP:0001392", - "HP:0001562", + "HP:0001510", "HP:0001873", "HP:0001871", "HP:0000568", @@ -5546,6 +8545,7 @@ def autocomplete(): "HP:0000268", "HP:0000286", "HP:0000286", + "HP:0008053", "HP:0003221", "HP:0003220", "HP:0010293", @@ -5603,2444 +8603,3699 @@ def autocomplete(): "HP:0006101", "HP:0001263", "HP:0002414", + "HP:0008572", "HP:0001199", "HP:0001172", ], "has_phenotype_label": [ - "Upslanted palpebral fissure", - "Short neck", - "Astigmatism", - "Abnormal pinna morphology", - "Hydrocephalus", - "Ovarian neoplasm", - "Absent testis", - "Nausea and vomiting", - "Tracheoesophageal fistula", - "Intellectual disability", - "Leukopenia", - "Ptosis", - "Weight loss", - "Weight loss", - "Cataract", - "Primary peritoneal carcinoma", - "Choanal atresia", - "Chronic fatigue", - "Abnormal carotid artery morphology", - "Almond-shaped palpebral fissure", - "Melanoma", - "Melanoma", - "Microcephaly", - "Microcephaly", - "Aplasia/Hypoplasia of the iris", - "Jaundice", - "Cafe-au-lait spot", - "Abnormal morphology of ulna", - "Arteriovenous malformation", - "Poor appetite", - "Abnormal nervous system morphology", - "Abnormal preputium morphology", - "Anal atresia", - "Hepatosplenomegaly", - "Scoliosis", - "Nephroblastoma", - "Hypospadias", - "Hypertelorism", - "Hypertelorism", - "Elevated hepatic transaminase", - "Growth delay", - "Myelodysplasia", - "Abnormality of the hypothalamus-pituitary axis", - "Intermittent diarrhea", - "Ventriculomegaly", - "Azoospermia", - "Abnormality of the liver", - "Oligohydramnios", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Microphthalmia", - "Abnormality of vision", - "Visual impairment", - "Proptosis", - "Pancreatic adenocarcinoma", - "Abnormal foot morphology", - "Pes planus", - "Toe syndactyly", - "Abnormal eyelid morphology", - "Abnormality of the eye", - "Strabismus", - "Exocrine pancreatic insufficiency", - "Atrial septal defect", - "Tetralogy of Fallot", - "Hypertrophic cardiomyopathy", - "Ventricular septal defect", - "Facial asymmetry", - "Patent ductus arteriosus", - "Abnormal aortic valve morphology", - "Micrognathia", - "Abnormal aortic morphology", - "Sloping forehead", - "Abnormal cardiac septum morphology", - "Extrahepatic cholestasis", - "Hearing abnormality", - "Hearing impairment", - "Functional intestinal obstruction", - "Abnormal fallopian tube morphology", - "Aplasia/Hypoplasia of the radius", - "Intrauterine growth retardation", - "Umbilical hernia", - "Medulloblastoma", - "Neoplasm of the pancreas", - "High palate", - "Abnormal renal morphology", - "Neoplasm of the liver", - "Abnormality of femur morphology", - "Hip dislocation", - "Abnormality of the upper limb", - "Dolichocephaly", - "Epicanthus", - "Epicanthus", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of chromosome stability", - "Aplasia/Hypoplasia of the uvula", - "Bicornuate uterus", - "Diabetes mellitus", - "Short palpebral fissure", - "Reduced bone mineral density", - "Hypoplasia of the ulna", - "Neuroblastoma", - "Intestinal pseudo-obstruction", - "Colon cancer", - "Breast carcinoma", - "Breast carcinoma", - "Short stature", - "Aplastic anemia", - "Anemia", - "Nystagmus", - "Cranial nerve paralysis", - "Pyridoxine-responsive sideroblastic anemia", - "Clinodactyly of the 5th finger", - "Short thumb", - "Abnormality of skin pigmentation", - "Hypopigmented skin patches", - "Clubbing of toes", - "Aganglionic megacolon", - "Meckel diverticulum", - "Back pain", - "Peritoneal abscess", - "Anorexia", - "Abnormal localization of kidney", - "Frontal bossing", - "Abdominal pain", - "Lymphadenopathy", - "Abnormality of the uterus", - "Aplasia/Hypoplasia of fingers", - "Hypogonadism", - "Prostate cancer", - "Cleft palate", - "Autosomal recessive inheritance", - "Recurrent urinary tract infections", - "Neoplasm", - "Postnatal growth retardation", - "Multiple cafe-au-lait spots", - "Cryptorchidism", - "Abnormal testis morphology", - "Hyperreflexia", - "Ovarian carcinoma", - "Decreased fertility in males", - "Hydroureter", - "Abnormality of the urinary system", - "Renal insufficiency", - "Renal hypoplasia/aplasia", - "Duodenal stenosis", - "Irregular hyperpigmentation", - "Finger syndactyly", - "Global developmental delay", - "Spina bifida", - "Triphalangeal thumb", - "Abnormal thumb morphology", + "Upslanted palpebral fissure (HPO)", + "Short neck (HPO)", + "Astigmatism (HPO)", + "Hydrocephalus (HPO)", + "Ovarian neoplasm (HPO)", + "Absent testis (HPO)", + "Nausea and vomiting (HPO)", + "Tracheoesophageal fistula (HPO)", + "Intellectual disability (HPO)", + "Leukopenia (HPO)", + "Ptosis (HPO)", + "Weight loss (HPO)", + "Weight loss (HPO)", + "Cataract (HPO)", + "Primary peritoneal carcinoma (HPO)", + "Choanal atresia (HPO)", + "Chronic fatigue (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Melanoma (HPO)", + "Melanoma (HPO)", + "Microcephaly (HPO)", + "Microcephaly (HPO)", + "Jaundice (HPO)", + "Cafe-au-lait spot (HPO)", + "Abnormal morphology of ulna (HPO)", + "Arteriovenous malformation (HPO)", + "Poor appetite (HPO)", + "Abnormal nervous system morphology (HPO)", + "Abnormal preputium morphology (HPO)", + "Anal atresia (HPO)", + "Hepatosplenomegaly (HPO)", + "Scoliosis (HPO)", + "Nephroblastoma (HPO)", + "Hypospadias (HPO)", + "Hypertelorism (HPO)", + "Hypertelorism (HPO)", + "Elevated hepatic transaminase (HPO)", + "Myelodysplasia (HPO)", + "Oligohydramnios (HPO)", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Intermittent diarrhea (HPO)", + "Ventriculomegaly (HPO)", + "Azoospermia (HPO)", + "Abnormality of the liver (HPO)", + "Growth delay (HPO)", + "Thrombocytopenia (HPO)", + "Abnormality of blood and blood-forming tissues (HPO)", + "Microphthalmia (HPO)", + "Abnormality of vision (HPO)", + "Visual impairment (HPO)", + "Proptosis (HPO)", + "Pancreatic adenocarcinoma (HPO)", + "Abnormal foot morphology (HPO)", + "Pes planus (HPO)", + "Toe syndactyly (HPO)", + "Abnormal eyelid morphology (HPO)", + "Abnormality of the eye (HPO)", + "Strabismus (HPO)", + "Exocrine pancreatic insufficiency (HPO)", + "Atrial septal defect (HPO)", + "Tetralogy of Fallot (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "Ventricular septal defect (HPO)", + "Facial asymmetry (HPO)", + "Patent ductus arteriosus (HPO)", + "Abnormal aortic valve morphology (HPO)", + "Micrognathia (HPO)", + "Abnormal aortic morphology (HPO)", + "Sloping forehead (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "Extrahepatic cholestasis (HPO)", + "Hearing abnormality (HPO)", + "Hearing impairment (HPO)", + "Functional intestinal obstruction (HPO)", + "Abnormal fallopian tube morphology (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Intrauterine growth retardation (HPO)", + "Umbilical hernia (HPO)", + "Medulloblastoma (HPO)", + "Neoplasm of the pancreas (HPO)", + "High palate (HPO)", + "Abnormal renal morphology (HPO)", + "Neoplasm of the liver (HPO)", + "Abnormality of femur morphology (HPO)", + "Hip dislocation (HPO)", + "Abnormality of the upper limb (HPO)", + "Dolichocephaly (HPO)", + "Epicanthus (HPO)", + "Epicanthus (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Abnormality of chromosome stability (HPO)", + "Aplasia/Hypoplasia of the uvula (HPO)", + "Bicornuate uterus (HPO)", + "Diabetes mellitus (HPO)", + "Short palpebral fissure (HPO)", + "Reduced bone mineral density (HPO)", + "Hypoplasia of the ulna (HPO)", + "Neuroblastoma (HPO)", + "Intestinal pseudo-obstruction (HPO)", + "Colon cancer (HPO)", + "Breast carcinoma (HPO)", + "Breast carcinoma (HPO)", + "Short stature (HPO)", + "Aplastic anemia (HPO)", + "Anemia (HPO)", + "Nystagmus (HPO)", + "Cranial nerve paralysis (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "Short thumb (HPO)", + "Abnormality of skin pigmentation (HPO)", + "Hypopigmented skin patches (HPO)", + "Clubbing of toes (HPO)", + "Aganglionic megacolon (HPO)", + "Meckel diverticulum (HPO)", + "Back pain (HPO)", + "Peritoneal abscess (HPO)", + "Anorexia (HPO)", + "Abnormal localization of kidney (HPO)", + "Frontal bossing (HPO)", + "Abdominal pain (HPO)", + "Lymphadenopathy (HPO)", + "Abnormality of the uterus (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Hypogonadism (HPO)", + "Prostate cancer (HPO)", + "Cleft palate (HPO)", + "Autosomal recessive inheritance (HPO)", + "Recurrent urinary tract infections (HPO)", + "Neoplasm (HPO)", + "Postnatal growth retardation (HPO)", + "Multiple cafe-au-lait spots (HPO)", + "Cryptorchidism (HPO)", + "Abnormal testis morphology (HPO)", + "Hyperreflexia (HPO)", + "Ovarian carcinoma (HPO)", + "Decreased fertility in males (HPO)", + "Hydroureter (HPO)", + "Abnormality of the urinary system (HPO)", + "Renal insufficiency (HPO)", + "Renal hypoplasia/aplasia (HPO)", + "Duodenal stenosis (HPO)", + "Irregular hyperpigmentation (HPO)", + "Finger syndactyly (HPO)", + "Global developmental delay (HPO)", + "Spina bifida (HPO)", + "External ear malformation (HPO)", + "Triphalangeal thumb (HPO)", + "Abnormal thumb morphology (HPO)", ], "has_phenotype_closure": [ - "HP:0005918", + "UBERON:0012358", + "HP:0001199", + "UBERON:0001436", + "UBERON:0005897", "UPHENO:0021800", - "UPHENO:0087858", - "HP:0410043", - "UPHENO:0088123", - "UPHENO:0051003", - "UPHENO:0087665", - "HP:0002414", - "HP:0045005", - "UPHENO:0051077", - "HP:0002143", + "UBERON:0004249", + "UBERON:0015024", + "UBERON:5101463", + "UPHENO:0084447", + "UBERON:5106048", + "UBERON:5102389", + "UPHENO:0071324", + "HP:0000377", + "HP:0008572", + "UBERON:0001691", + "UBERON:0002240", + "UBERON:0002050", + "GO:0048646", + "GO:0009653", + "HP:0003312", "UPHENO:0076744", - "UPHENO:0076707", + "GO:0014020", + "GO:0001841", + "UBERON:0001049", + "UBERON:0005291", "HP:0010301", + "HP:0045005", + "UPHENO:0051003", + "UPHENO:0051077", + "UPHENO:0076695", + "UBERON:0010358", + "GO:0060606", + "GO:0072175", + "GO:0007399", + "GO:0016331", + "GO:0002009", + "GO:0009792", + "HP:0008438", + "UBERON:0003914", "HP:0003468", + "GO:0001838", + "GO:0043009", + "UBERON:0000483", + "HP:0410043", + "HP:0002143", + "GO:0048731", + "GO:0035239", + "UBERON:0001075", + "UBERON:0016879", "HP:0012758", - "UPHENO:0078288", "HP:0006101", - "UPHENO:0078215", - "UPHENO:0078267", "HP:0002246", - "HP:0100867", + "UBERON:0002114", + "UPHENO:0081868", "HP:0008678", - "HP:0000083", - "UPHENO:0002411", "HP:0012211", - "UPHENO:0086132", + "HP:0000083", + "UBERON:0036295", "HP:0025633", - "UPHENO:0002806", - "HP:0000144", + "UBERON:0006555", + "UPHENO:0021780", + "HP:0000069", + "UBERON:0000056", + "HP:0000072", "HP:0012041", "HP:0025318", - "HP:0000520", - "UPHENO:0050620", - "UPHENO:0002819", - "UPHENO:0001005", - "HP:0000568", - "UPHENO:0084928", - "UPHENO:0085118", - "UPHENO:0084987", - "UPHENO:0086173", - "UPHENO:0085070", - "HP:0001562", - "HP:0002827", - "UPHENO:0001440", - "UPHENO:0086049", - "HP:0002863", - "UPHENO:0031193", - "UPHENO:0076803", - "HP:0004377", - "UPHENO:0063565", - "HP:0001392", - "UPHENO:0000543", - "HP:0030065", - "HP:0001939", - "UPHENO:0050845", - "HP:0012379", - "HP:0002910", - "HP:0000707", - "UPHENO:0049748", - "UPHENO:0059929", - "UPHENO:0055730", - "UPHENO:0078347", - "UPHENO:0049367", - "HP:0032076", - "HP:0010936", - "HP:0000795", - "HP:0000079", - "UPHENO:0087376", - "HP:0001881", - "UPHENO:0041212", - "UPHENO:0077855", - "UPHENO:0019492", - "UPHENO:0087974", - "HP:0045060", - "HP:0001010", - "HP:0002650", - "UPHENO:0076722", - "HP:0001743", - "UPHENO:0087349", - "UPHENO:0046538", - "HP:0002014", - "HP:0031071", - "UPHENO:0087910", - "UPHENO:0065599", - "HP:0200005", - "UPHENO:0001072", - "HP:0000517", - "UPHENO:0088132", - "UPHENO:0076812", + "HP:0001347", + "GO:0060004", + "UPHENO:0055092", + "UPHENO:0050079", + "UPHENO:0053580", + "UPHENO:0053644", + "HP:0000028", + "HP:0007565", + "UPHENO:0002263", + "HP:0010978", + "UPHENO:0002442", + "HP:0011277", + "HP:0000007", + "HP:0000005", + "UPHENO:0033635", + "HP:0000202", + "HP:0005918", + "HP:0000175", + "HP:0012125", + "UBERON:0010147", + "HP:0008775", + "UBERON:0005399", + "HP:0033019", + "UPHENO:0066972", + "UPHENO:0001209", + "UPHENO:0075161", + "UPHENO:0083530", + "UPHENO:0002848", + "HP:0002716", + "HP:0002733", + "UBERON:0000029", + "UPHENO:0083593", + "HP:0002027", + "UBERON:0011300", + "UBERON:0022303", + "UBERON:0011215", + "UBERON:0016526", + "UPHENO:0084465", + "HP:0430000", + "UBERON:0000209", + "UPHENO:0082900", + "HP:0002007", + "UPHENO:0082905", + "UBERON:0001870", + "UBERON:0011164", + "UBERON:0016529", + "UPHENO:0005994", + "UPHENO:0020917", + "HP:0002538", + "UBERON:0004766", + "UBERON:0016548", + "UBERON:0002020", + "UBERON:0000956", + "UBERON:0016525", + "UBERON:0001950", + "UBERON:0000203", + "UPHENO:0081603", + "UPHENO:0001003", + "UBERON:0001869", + "UBERON:0000949", + "UPHENO:0076754", + "GO:0009605", + "UPHENO:0079835", + "GO:0031667", + "MPATH:607", + "UBERON:0016491", + "MPATH:603", + "MPATH:1000", + "HP:0012874", + "UBERON:0000042", + "HP:0012531", + "UPHENO:0080351", + "UBERON:0002108", + "UPHENO:0020818", + "UPHENO:0002808", + "UBERON:0001988", + "UBERON:0002116", + "UBERON:0002410", + "UPHENO:0002770", + "UPHENO:0082682", + "HP:0100760", + "UBERON:0005401", + "HP:0000340", + "UBERON:0010543", + "UBERON:5102544", + "HP:0010161", + "HP:5200241", + "UPHENO:0080595", + "UBERON:0002387", + "HP:0001217", + "UBERON:0015023", + "UPHENO:0041084", + "UBERON:0001445", + "UBERON:0012152", + "UPHENO:0041525", + "UBERON:0000916", + "HP:0001053", + "UBERON:0005881", + "UPHENO:0046411", + "UPHENO:0049873", + "UPHENO:0080099", + "HP:0006265", + "UPHENO:0020795", + "UBERON:0001442", + "HP:0001172", + "HP:0009179", + "UBERON:0015001", + 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- "HP:0000175", - "UPHENO:0033635", - "UPHENO:0080362", - "HP:0001511", - "HP:0032101", - "UPHENO:0086100", - "HP:0010978", - "HP:0030063", - "HP:0007565", - "UPHENO:0069293", - "HP:0040019", - "UPHENO:0053580", - "UPHENO:0083263", - "HP:0001347", - "UPHENO:0005994", - "UPHENO:0055092", + "UBERON:0001893", + "UBERON:0001043", + "UBERON:0004111", + "UBERON:0010409", + "UPHENO:0002599", + "HP:0005927", + "UBERON:0007375", + "UBERON:0005445", + "UBERON:0001638", + "UBERON:0003978", + "UBERON:0002104", + "HP:0011027", + "HP:0100737", + "UPHENO:0081574", + "UPHENO:0079839", + "UPHENO:0002261", + "GO:0060429", + "UBERON:0000467", + "HP:0100543", + "HP:0001667", + "HP:0034684", + "UPHENO:0075696", + "HP:0000520", + "HP:0000582", + "BFO:0000020", + "HP:0001396", + "UBERON:0001981", + "UBERON:0013701", + "HP:0000025", + "UPHENO:0002901", + "UBERON:0004905", + "UBERON:0003697", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0010707", + "UPHENO:0002833", + "UBERON:0001032", + "UBERON:0034921", + "UPHENO:0076692", + "UBERON:0000178", + "HP:0011458", + "CL:0000003", + "UBERON:0001711", + "HP:0012331", + "HP:0008050", + "UPHENO:0076730", + "UBERON:0015203", + "UBERON:0001016", + "UPHENO:0076703", + "UBERON:0000992", + "UBERON:0004456", + "UPHENO:0075712", + "HP:0000152", + "UPHENO:0020539", + "BFO:0000001", + "BFO:0000040", + "UPHENO:0054957", + "UPHENO:0077885", + "UPHENO:0015280", + "HP:0000819", + "UBERON:0001272", + "UBERON:0006072", + "CL:0000019", + "UBERON:0000064", + "UBERON:0007100", + "UBERON:0001558", + "UBERON:0000465", + "UBERON:0005725", + "UBERON:0005944", + "UPHENO:0041146", ], "has_phenotype_closure_label": [ - "Abnormal finger phalanx morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "Abnormality of thumb phalanx", - "Triphalangeal thumb", - "Spina bifida", - "Vertebral arch anomaly", - "Abnormal form of the vertebral bodies", - "abnormal arch of centrum of vertebra", - "flat anatomical entity", - "abnormal bone marrow morphology", - "abnormal cerebral cortex morphology", - "Abnormality of the lower limb", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "Abnormality of the ureter", - "abnormal size of eyeball of camera-type eye", - "Abnormal myeloid cell morphology", - "Abnormal abdomen morphology", - "Abnormality of pancreas physiology", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal platelet count", - "abnormal internal male genitalia morphology", - "Oligohydramnios", - "abnormal amniotic fluid", - "abnormal cerebrospinal fluid morphology", - "Abnormal ocular adnexa morphology", - "abnormal size of brain ventricle", - "Exocrine pancreatic insufficiency", - "Frontal bossing", - "Ovarian neoplasm", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal hypothalamus-pituitary axis", - "Reduced bone mineral density", - "Myelodysplasia", - "delayed biological_process", - "Abnormal enzyme concentration or activity", - "abnormal facial skeleton morphology", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "increased anatomical entity length in independent continuant", - "hypertrophic cardiac ventricle", - "Toe syndactyly", - "Abnormality of the lower urinary tract", - "abnormal urethra", - "decreased pigmentation in independent continuant", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Renal neoplasm", - "Abnormal prostate morphology", - "Abnormality of the upper urinary tract", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "Peripheral primitive neuroectodermal neoplasm", - "shape longitudinal arch of pes", - "decreased length of neck", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Embryonal neoplasm", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Scoliosis", - "abnormal cardiac atrium morphology", - "Abnormal curvature of the vertebral column", - "Digestive system neoplasm", - "Abnormality of the integument", - "Epicanthus", - "abnormal hepatobiliary system morphology", - "anatomical entity hypoplasia in face", - "abnormal spleen", - "Abnormal oral cavity morphology", - "abnormal pancreas", - "increased size of the spleen", - "Abnormal endocrine morphology", - "abnormal leg", - "Abnormal liver morphology", - "increased size of the viscus", - "Hepatosplenomegaly", - "abnormal biological_process in independent continuant", - "Abnormality of metabolism/homeostasis", - "Abnormal circulating enzyme concentration or activity", - "abnormal blood cell", - "anus atresia", - "abnormal skull morphology", - "Short long bone", - "increased size of the brain ventricle", - "Neoplasm of the breast", - "abnormal anus", - "Neuroectodermal neoplasm", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormality of the forehead", - "Fatigue", - "abnormality of multicellular organism height", - "abnormal limb morphology", - "Abnormality of the spleen", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Cardiomyopathy", - "Abnormality of limb bone morphology", - "abnormal limb long bone morphology", - "Atypical behavior", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormality of limbs", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal male urethral meatus morphology", - "Abnormal morphology of ulna", - "Aplastic anemia", - "flattened anatomical entity", - "bone element hypoplasia in face", - "abnormal manus", - "Abnormality of globe location", - "Strabismus", - "abnormal prostate gland", - "abnormal embryonic tissue morphology", - "aplasia or hypoplasia of iris", - "abnormal myeloid cell morphology", - "Abnormal spleen morphology", - "abnormal semi-lunar valve morphology", - "increased biological_process", + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "manual digit digitopodial skeleton", + "abnormal phalanx morphology", + "manual digit phalanx endochondral element", + "manual digit 1 digitopodial skeleton", + "Abnormal finger phalanx morphology (HPO)", + "manual digit 1 phalanx endochondral element", + "phalanx of manus", + "manus bone", + "abnormally formed external ear", + "abnormal external ear morphology", "abnormal external ear", - "Prostate cancer", - "increased pigmentation in independent continuant", - "increased biological_process in independent continuant", - "abnormally decreased number of anatomical entity in the independent continuant", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "Abnormality of the endocrine system", - "abnormal endocrine system", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Cholestasis", - "abnormal digit", - "Jaundice", - "Neurodevelopmental delay", - "Abnormality of the pancreas", - "abnormal biliary system", - "abnormal liver", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "Abnormality of the head", - "Abnormality of the liver", - "Aplasia/Hypoplasia affecting the uvea", - "Aplasia/Hypoplasia of the iris", - "flat anatomical entity in independent continuant", - "abnormal mandible morphology", - "abnormal size of spleen", - "increased qualitatively biological_process in independent continuant", - "Abnormal ileum morphology", - "Anal atresia", - "abnormally formed anterior chamber of eyeball", - "Ocular anterior segment dysgenesis", - "abnormal skeletal joint morphology", - "Abnormal localization of kidney", - "abnormal penis", - "abnormal duodenum morphology", - "herniated anatomical entity", - "abnormal size of skull", - "abnormal embryo morphology", - "abnormal parasympathetic nervous system morphology", - "Decreased head circumference", - "Hypogonadism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "Abnormal forebrain morphology", - "abnormal forebrain morphology", - "abnormal shape of cornea", - "abnormal anatomical entity morphology in the brain", - "aplasia or hypoplasia of anatomical entity", - "abnormal neocortex morphology", - "decreased biological_process", - "Neoplasm by histology", - "abnormal shape of palpebral fissure", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "shape digit", - "Clubbing", - "Postnatal growth retardation", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "Nausea and vomiting", - "abnormal vasculature", - "abnormal genitourinary system", - "abnormal common carotid artery plus branches morphology", - "Abnormal blood vessel morphology", - "Abnormality of the vasculature", - "Abnormal vascular morphology", - "Abnormality of skull size", - "decreased size of the multicellular organism", + "External ear malformation (HPO)", + "abnormal shape of external ear", + "neural tube", + "presumptive structure", + "abnormal tube formation", + "neural tube closure", + "embryonic epithelial tube formation", + "spinal cord", + "tube development", + "system development", + "Abnormality of the spinal cord (HPO)", + "bony vertebral centrum", + "future nervous system", + "arch of centrum of vertebra", + "Vertebral arch anomaly (HPO)", + "abnormal incomplete closing of the arch of centrum of vertebra", + "neural tube formation", + "primary neural tube formation", + "Neural tube defect (HPO)", + "epithelium", + "abnormal neural tube closure", "abnormal vertebral column morphology", - "Abnormality of the inner ear", - "Abnormal systemic arterial morphology", - "abnormal systemic arterial system morphology", - "Nephroblastoma", - "Aplasia/Hypoplasia involving the central nervous system", - "Short neck", - "Mode of inheritance", - "abnormal vascular system morphology", - "Abnormal anus morphology", - "abnormal voluntary musculoskeletal movement", - "abnormally localised anatomical entity in independent continuant", - "abnormal size of liver", - "abnormal anatomical entity mass density", - "Embryonal renal neoplasm", - "Constitutional symptom", - "Absent testis", - "Abnormality of the choanae", - "Abnormal skull morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal olfactory system morphology", - "internal naris atresia", - "abnormal posterior nasal aperture morphology", - "abnormal cellular metabolic process", + "epithelial tube formation", + "nervous system development", + "morphogenesis of embryonic epithelium", + "embryo development ending in birth or egg hatching", + "embryonic tissue", + "Abnormal neural tube morphology (HPO)", + "abnormal vertebra morphology", + "anatomical structure morphogenesis", + "Spina bifida (HPO)", + "abnormal embryonic tissue morphology", + "abnormal bony vertebral centrum morphology", + "Neurodevelopmental delay (HPO)", + "Finger syndactyly (HPO)", + "Small intestinal stenosis (HPO)", + "Duodenal stenosis (HPO)", + "Abnormal duodenum morphology (HPO)", + "abnormal duodenum morphology", + "Renal insufficiency (HPO)", + "abnormality of kidney physiology", + "renal pelvis/ureter", + "Abnormal ureter morphology (HPO)", + "abnormal ureter", "abnormal ureter morphology", - "abnormal nose", - "abnormally decreased number of myeloid cell", - "abnormal incomplete closing of the abdominal wall", - "Urinary tract neoplasm", - "Choanal atresia", - "Hypospadias", - "posterior nasal aperture atresia", - "Hypertelorism", - "abnormal integument", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "Primary peritoneal carcinoma", - "Abnormality of movement", - "Neoplasm of the large intestine", - "Neoplasm of the gastrointestinal tract", - "Cataract", - "opaque anatomical entity", - "abnormal head", - "Pancytopenia", - "abnormal lens of camera-type eye morphology", - "Hydrocephalus", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormal reproductive system", - "abnormal central nervous system morphology", - "Visceromegaly", - "continuant", - "Abnormality of the female genitalia", - "abnormal number of anatomical enitites of type platelet", - "abnormal forelimb zeugopod morphology", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "abnormal nervous system", - "Tracheoesophageal fistula", - "decreased qualitatively biological_process in independent continuant", - "abnormally increased number of anatomical entity", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal internal genitalia", - "abnormal biological_process", - "Elevated hepatic transaminase", - "Abnormality of the male genitalia", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "abnormal enteric nervous system morphology", - "abnormal limb", - "curvature anatomical entity in independent continuant", - "abnormal limb bone morphology", - "abnormal ulna morphology", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Abnormal male reproductive system physiology", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "abnormal ear morphology", - "drooping eyelid", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "asymmetrically curved cornea", - "Morphological central nervous system abnormality", - "Recurrent infections", - "Hepatomegaly", - "Abnormal cornea morphology", - "abnormal secondary palate morphology", - "abnormal anatomical entity, asymmetrically curved", - "abnormal multicellular organismal reproductive process", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "abnormal liver morphology", - "abnormal organelle organization", - "Hypermelanotic macule", - "Abnormal eye physiology", - "asymmetrically curved anatomical entity", - "abnormal systemic artery morphology", - "abnormal hindlimb joint", - "Abnormal anterior eye segment morphology", - "Displacement of the urethral meatus", - "abnormal face", - "abnormal asymmetry of anatomical entity", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", - "Ventricular septal defect", - "abnormal response to stimulus", - "Abnormal forearm bone morphology", - "abnormal voluntary movement behavior", - "abnormal respiratory tube morphology", - "Neoplasm of the pancreas", - "anatomical entity hyperplasia", - "abnormal cervical vertebra", - "abnormal cornea, curved", - "abnormal leukocyte morphology", - "abnormal renal system", - "abnormally fused anatomical entity and manual digit", - "abnormal ocular adnexa", - "Abnormality of vision", - "increased size of the anatomical entity in independent continuant", - "Non-obstructive azoospermia", - "curved anatomical entity in independent continuant", - "Anemia of inadequate production", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal nervous system morphology", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "Abnormal peripheral nervous system morphology", - "Pulmonic stenosis", - "Upper limb undergrowth", - "Abnormal renal morphology", - "abnormal internal naris", - "abnormal arm", - "Abnormality of limb bone", - "Abnormal eye morphology", - "abnormal connective tissue", - "abnormal autopod region morphology", - "abnormal ear", - "Abnormal aortic valve morphology", - "Abnormality of the orbital region", - "Hyperpigmentation of the skin", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal nerve", - "Abnormal preputium morphology", + "ureter", + "Decreased fertility in males (HPO)", + "Decreased fertility (HPO)", + "Ovarian carcinoma (HPO)", + "increased qualitatively response to stimulus", + "Hyperreflexia (HPO)", + "reflex", + "abnormal response to external stimulus", + "abnormally localised anatomical entity", + "Cryptorchidism (HPO)", "abnormally localised testis", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "Genital neoplasm", - "Abnormal eyelid morphology", - "increased pigmentation in skin of body", - "abnormal aorta morphology", - "abnormal hematopoietic system", - "phenotype by ontology source", - "abnormally decreased number of hematopoietic cell", - "abnormal ocular adnexa morphology", - "abnormal phalanx of manus morphology", - "abnormal visual perception", - "Morphological abnormality of the gastrointestinal tract", - "abnormal chemical homeostasis", - "Abnormality of the cardiovascular system", - "abnormality of gland physiology", - "Abnormal right ventricle morphology", - "Clinodactyly", - "Abnormality of the genitourinary system", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", - "Generalized abnormality of skin", - "decreased biological_process in multicellular organism", - "absent gamete", - "Abnormality of the neck", - "decreased spermatogenesis", - "abnormal artery morphology", - "Abnormality of enteric nervous system morphology", - "Abnormal forearm morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal shape of continuant", - "abnormal bone marrow cell", - "abnormal reproductive process", - "abnormal heart left ventricle morphology", - "Ventriculomegaly", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "Growth abnormality", - "abnormal female reproductive system", - "Abnormal cerebral ventricle morphology", - "shape eyelid", - "clavate digit", - "All", - "Abnormal bone structure", - "abnormal trachea morphology", - "decreased qualitatively biological_process", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "abnormally fused anatomical entity and pedal digit", - "abnormal neck morphology", - "Finger syndactyly", - "abnormal ductus arteriosus morphology", - "Abnormal bone ossification", - "abnormal anatomical entity", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal manual digit morphology in the manus", - "abnormal ileum morphology", - "Abdominal pain", - "abnormal head morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", - "curved anatomical entity", - "decreased length of long bone", - "Abnormal ear morphology", - "abnormal craniocervical region", - "Weight loss", - "abnormal cell morphology", - "Macule", - "increased size of the abdominal viscera", - "abnormal vertebral column", - "abnormal gland morphology", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "bicornuate anatomical entity", - "abnormal shape of forehead", - "abnormal palpebral fissure", - "abnormal tube formation", - "abnormality of pancreas physiology", - "Abnormal pinna morphology", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", - "abnormal skin of body", - "abnormal upper urinary tract", - "increased height of the anatomical entity", - "Limb undergrowth", - "Finger clinodactyly", - "curvature anatomical entity", - "Decreased anatomical entity mass", - "entity", - "abnormal forelimb zeugopod bone", - "Slanting of the palpebral fissure", - "Abnormality of refraction", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "abnormal camera-type eye morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "abnormal muscle contraction in independent continuant", - "abnormally decreased functionality of the anatomical entity", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal skeletal system morphology", - "Hip dislocation", - "abnormal pigmentation in independent continuant", - "phenotype", - "abnormal male reproductive system morphology", - "Anorexia", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal digestive system morphology", - "Abnormality of the biliary system", - "abnormal size of palpebral fissure", - "abnormal digestive system", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal vestibulo-ocular reflex", - "flattened anatomical entity in independent continuant", - "abnormality of cardiovascular system physiology", + "abnormally localised anatomical entity in independent continuant", + "Postnatal growth retardation (HPO)", + "Abnormality of the urinary system physiology (HPO)", + "Unusual infection (HPO)", + "abnormality of renal system physiology", + "abnormality of immune system physiology", + "Autosomal recessive inheritance (HPO)", + "hard palate", + "abnormal incomplete closing of the secondary palate", + "abnormal hard palate morphology", + "Abnormal hard palate morphology (HPO)", + "Orofacial cleft", + "Cleft palate (HPO)", + "abnormal prostate gland", + "prostate gland", + "male reproductive gland", + "Prostate cancer (HPO)", + "Prostate neoplasm (HPO)", + "abnormally decreased functionality of the gonad", + "Puberty and gonadal disorders (HPO)", + "Lymphadenopathy (HPO)", + "abnormal lymph node", + "lymph node", + "lymph node hyperplasia", + "abnormal size of lymph node", + "anatomical entity hyperplasia", + "central nervous system gray matter layer", + "pallium", + "abnormal shape of frontal cortex", + "Abnormal anterior eye segment morphology (HPO)", + "frontal cortex", + "cortex of cerebral lobe", + "cerebral cortex", + "brain", + "gray matter of forebrain", + "Recurrent urinary tract infections (HPO)", + "abnormal frontal cortex morphology", + "abnormal head morphology", + "cerebral hemisphere gray matter", + "abnormal tetrapod frontal bone morphology", + "prominent forehead", + "abnormal cerebral cortex morphology", + "cerebral hemisphere", + "Abnormal localization of kidney (HPO)", + "Abnormality of the kidney (HPO)", + "bone of pelvic complex", + "regulation of appetite", + "Abnormality of globe location (HPO)", + "response to extracellular stimulus", + "abnormal peritoneum", + "abnormal developmental process involved in reproduction", + "serous sac", + "peritoneal sac", + "Abnormality of the peritoneum (HPO)", + "abnormal ileum morphology", + "Abnormal ileum morphology (HPO)", + "Abnormal thorax morphology (HPO)", + "ganglion of peripheral nervous system", + "limb segment", + "abnormal ganglion of peripheral nervous system", + "abnormal autonomic nervous system", + "subdivision of organism along appendicular axis", + "Abnormal autonomic nervous system morphology (HPO)", + "abnormal neural tube morphology", + "head", + "outflow tract of ventricle", + "Aganglionic megacolon (HPO)", + "abnormal autonomic nervous system morphology", + "Abnormal forearm bone morphology (HPO)", + "abnormal ganglion", + "acropodial skeleton", + "skeleton of digitopodium", + "posterior region of body", + "decreased multicellular organism mass", + "autopod endochondral element", + "skeleton of pedal acropodium", + "pedal digit digitopodial skeleton", + "shape digit", + "abnormal phalanx of pes", + "phalanx endochondral element", + "glans penis", + "autopod bone", + "phalanx of pes", + "skeleton of pectoral complex", + "multicellular anatomical structure", + "phalanx", + "integumental system", + "decreased biological_process in skin of body", + "decreased pigmentation in skin of body", + "Abnormality of the eye (HPO)", + "neocortex", + "parasympathetic ganglion", + "neck bone", + "decreased pigmentation in independent continuant", + "Azoospermia (HPO)", + "Short digit (HPO)", + "thoracic segment of trunk", "aplasia or hypoplasia of manual digit 1", - "abnormally decreased number of cell", - "Abnormal mandible morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "Abnormality of digestive system morphology", - "Abnormality of the ocular adnexa", - "Autosomal recessive inheritance", - "Abnormality of the skeletal system", - "Deviation of finger", - "shape cornea", - "Abnormality of the anus", - "abnormal immune system", - "Upslanted palpebral fissure", - "Dermatological manifestations of systemic disorders", - "abnormally decreased number of cell in the independent continuant", - "hypertrophic multicellular anatomical structure", - "decreased length of anatomical entity in independent continuant", - "increased size of the anatomical entity", - "abnormal limb bone", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "Abnormal nervous system morphology", - "Abnormality of the nose", + "Scoliosis (HPO)", + "Short finger (HPO)", "abnormal brain ventricle morphology", - "abnormal platelet", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormality of camera-type eye physiology", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "abnormal exocrine gland morphology", - "abnormal ovary", - "Abnormal morphology of female internal genitalia", - "abnormal zone of skin morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal incomplete closing of the arch of centrum of vertebra", - "prominent forehead", - "abnormal internal female genitalia morphology", - "abnormal female reproductive system morphology", - "Abnormal renal physiology", - "abnormal postcranial axial skeleton morphology", - "abnormal neck", - "abnormal anatomical entity length", - "abnormal lymphatic part of lymphoid system", - "Abnormality of the palpebral fissures", - "decreased developmental process", - "Neuroblastoma", + "decreased length of manual digit", + "manual digit 1 plus metapodial segment", + "skeleton of manus", + "Short thumb (HPO)", + "manual digit 1", + "abnormal anatomical entity morphology in the manus", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "decreased length of manual digit 1", + "increased height of the anatomical entity", + "Abnormality of the hand (HPO)", + "abnormal manus", + "abnormal size of heart right ventricle", + "bone element hypoplasia in independent continuant", + "Clinodactyly of the 5th finger (HPO)", + "abnormal limb bone morphology", + "abnormal radius bone", + "abnormal manus morphology", + "Ventricular hypertrophy (HPO)", + "myeloid cell differentiation", + "manus", + "semi-lunar valve", + "segment of manus", + "manual digit 1 or 5", + "Abnormality of finger (HPO)", + "Abnormal 5th finger morphology (HPO)", + "abnormal manual digit 5 morphology", + "Abnormality of the small intestine (HPO)", + "erythrocyte differentiation", + "myeloid cell homeostasis", + "cellular developmental process", + "nerve", + "peripheral nervous system", + "developing anatomical structure", + "decreased size of the ulna", + "paralysed cranial nerve", + "Abnormality of peripheral nerves (HPO)", + "paralysed anatomical entity", + "lobe of cerebral hemisphere", + "Anorexia (HPO)", + "Abnormal cranial nerve physiology (HPO)", + "cranial neuron projection bundle", + "Abnormal cerebral ventricle morphology (HPO)", + "abnormal internal ear", + "Abnormal involuntary eye movements (HPO)", + "voluntary movement behavior", + "Abnormal vestibulo-ocular reflex (HPO)", + "Abnormal prostate morphology (HPO)", + "Vestibular dysfunction (HPO)", + "internal ear", + "Abnormality of the inner ear (HPO)", + "response to nutrient levels", + "Aplasia/Hypoplasia of the thumb (HPO)", + "reflexive behavior", + "Abnormality of movement (HPO)", + "abnormal enteric nervous system morphology", + "Recurrent infections (HPO)", + "involuntary movement behavior", + "abnormal forelimb zeugopod", + "abnormal ear morphology", + "Abnormal liver morphology (HPO)", + "Abnormal platelet count (HPO)", + "Abnormal ear morphology (HPO)", + "polyatomic entity", + "increased biological_process in independent continuant", + "abnormality of internal ear physiology", + "Hematological neoplasm (HPO)", + "neuromuscular process", + "abnormal iris morphology", + "digit 1 or 5", + "musculoskeletal movement", + "abnormal musculoskeletal movement", + "multicellular organismal movement", + "Non-obstructive azoospermia (HPO)", + "abnormal voluntary movement behavior", + "Nervous tissue neoplasm (HPO)", + "Abnormal erythroid lineage cell morphology (HPO)", + "pulmonary valve", + "Abnormality of bone marrow cell morphology (HPO)", + "decreased size of the anatomical entity", + "oxygen accumulating cell", + "postcranial axial skeleton", + "bone marrow cell", + "Abnormality of toe (HPO)", + "decreased height of the multicellular organism", + "mixed endoderm/mesoderm-derived structure", + "decreased size of the multicellular organism", + "decreased height of the anatomical entity", + "decreased qualitatively biological_process", + "abnormality of multicellular organism height", + "Abnormal breast morphology (HPO)", + "anatomical structure formation involved in morphogenesis", + "Breast carcinoma (HPO)", + "Neoplasm of the breast (HPO)", + "Abnormality of the breast (HPO)", + "Abnormal renal physiology (HPO)", + "abnormal chest", + "developmental process involved in reproduction", + "hindlimb stylopod", + "skeleton of pes", + "large intestine", + "Neoplasm of the colon (HPO)", + "smooth muscle contraction", + "abnormal muscle contraction in independent continuant", "changed muscle contraction rate", - "Abnormal thorax morphology", - "Abnormality of male external genitalia", - "abnormal forehead", - "absent anatomical entity in the semen", - "abnormal anatomical entity morphology", - "Abnormal reflex", + "abnormal intestine morphology", + "lateral structure", + "abnormal abdominal wall", + "Abnormal gastrointestinal motility (HPO)", + "abnormal arch of centrum of vertebra", + "Gastrointestinal dysmotility (HPO)", + "Thrombocytopenia (HPO)", + "abnormal cardial valve morphology in the heart", + "Patent ductus arteriosus (HPO)", + "Abnormal intestine morphology (HPO)", + "decreased muscle contraction", + "Neuroblastoma (HPO)", + "system process", + "chest", + "Neuroblastic tumor (HPO)", + "Primitive neuroectodermal tumor (HPO)", + "pathological phenotype observation", + "shape eyelid", + "Abnormal aortic valve morphology (HPO)", + "Peripheral primitive neuroectodermal neoplasm (HPO)", + "ulna hypoplasia", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "decreased length of forelimb zeugopod bone", + "aplasia or hypoplasia of ulna", + "Aplasia/Hypoplasia of the ulna (HPO)", + "Forearm undergrowth (HPO)", + "digitopodium bone", + "increased pigmentation in skin of body", + "Short forearm (HPO)", + "Abdominal pain (HPO)", + "Decreased bone element mass density", + "posterior nasal aperture", + "eye movement", + "Abnormality of bone mineral density (HPO)", "Decreased anatomical entity mass density", - "Diarrhea", - "abnormal synovial joint morphology", - "abnormal male reproductive organ morphology", - "abnormal anatomical entity, curved", - "absent sperm in the independent continuant", - "abnormal vein morphology", - "abnormal external ear morphology", - "absent anatomical entity in the multicellular organism", - "Microphthalmia", - "Decreased body weight", - "decreased qualitatively developmental process", - "increased size of the liver", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "abnormal lower urinary tract", - "decreased qualitatively pigmentation in independent continuant", - "Renal hypoplasia/aplasia", - "abnormal spleen morphology", - "Abnormal penis morphology", - "Intellectual disability", - "Neoplasm", - "Abnormal cardiac atrium morphology", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "decreased qualitatively visual perception", - "abnormal interatrial septum morphology", - "Abnormality of the face", - "abnormal jaw skeleton morphology", - "increased biological_process in skin of body", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal ventricular septum morphology", - "Abnormality of the urethra", - "abnormal brain morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of chromosome stability", - "abnormal testis morphology", - "Abnormal cellular phenotype", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal size of the palpebral fissures", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Extrahepatic cholestasis", - "deviation of anatomical entity towards the middle", - "Abnormal testis morphology", - "abnormal incomplete closing of the secondary palate", - "abnormal blood cell morphology", - "abnormal cell", - "Abnormal shape of the palpebral fissure", - "abnormal spermatogenesis", - "Clubbing of toes", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "decreased biological_process in independent continuant", + "abnormal parasympathetic ganglion morphology", + "decreased length of palpebral fissure", + "Short palpebral fissure (HPO)", + "membrane bone", + "abnormal size of palpebral fissure", + "carbohydrate homeostasis", + "Abnormal internal genitalia (HPO)", + "Right ventricular hypertrophy (HPO)", + "homeostatic process", + "anatomical conduit", + "glucose homeostasis", + "anus atresia", + "chemical homeostasis", + "Abnormal leukocyte morphology (HPO)", + "abnormal skull morphology", + "Abnormal homeostasis (HPO)", + "Anal atresia (HPO)", + "shape uterus", + "autonomic nervous system", + "abnormal size of brain ventricle", + "Bicornuate uterus (HPO)", + "Elevated hepatic transaminase (HPO)", + "uterus", + "bicornuate uterus", + "3-D shape anatomical entity in independent continuant", + "abnormal uterus", + "duodenum", + "Abnormal uvula morphology (HPO)", + "soft palate", + "Myelodysplasia (HPO)", + "Abnormal soft palate morphology (HPO)", + "lower limb segment", + "Aplasia/Hypoplasia of the uvula (HPO)", + "tube closure", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "enteric ganglion", + "cerebrospinal fluid", + "abnormal cellular component organization", + "cell differentiation", + "internal female genitalia", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "epigenetic regulation of gene expression", + "central nervous system cell part cluster", + "serous membrane", + "programmed DNA elimination by chromosome breakage", + "epithelium development", + "abnormal neck", + "pelvic girdle region", + "cellular process", + "programmed DNA elimination", + "Abnormal tracheal morphology (HPO)", + "abnormal DNA metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "anterior chamber of eyeball", + "negative regulation of cellular process", + "prepuce", + "Abnormality of the autonomic nervous system (HPO)", + "endocrine gland", + "abnormal soft palate", "abnormally formed anatomical entity", - "absent sperm", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "Pancreatic adenocarcinoma", - "Abnormality of prenatal development or birth", - "Abnormal esophagus morphology", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal closing of the anatomical entity", - "Abnormal ear physiology", - "Functional abnormality of male internal genitalia", - "abnormally fused digit and anatomical entity", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "Aplasia/Hypoplasia of the testes", - "abnormal anterior chamber of eyeball morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal 5th finger morphology", - "abnormal anterior uvea morphology", - "Abnormality of the lymphatic system", - "Abnormal external genitalia", - "abnormal reproductive system morphology", - "abnormality of nervous system physiology", - "Hematological neoplasm", - "abnormal immune system morphology", - "abnormality of male reproductive system physiology", - "Thrombocytopenia", - "Abnormality of the immune system", - "Abnormality of reproductive system physiology", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "abnormal primary metabolic process", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormality of digestive system physiology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal incomplete closing of the anatomical entity", - "Abnormal heart valve morphology", - "Hearing abnormality", - "abnormal hematopoietic system morphology", - "abnormally formed anatomical entity in independent continuant", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "Abnormal carotid artery morphology", - "Astigmatism", - "Abdominal symptom", - "abnormal alimentary part of gastrointestinal system", - "abnormal endocrine gland morphology", - "abnormal pulmonary valve morphology", - "Abnormal tracheobronchial morphology", - "Breast carcinoma", - "flat longitudinal arch of pes", - "abnormal bone of pectoral complex morphology", + "iris", + "chamber of eyeball", + "Abnormality iris morphology (HPO)", + "aplasia or hypoplasia of iris", + "abnormal glucose homeostasis", + "abnormal spinal cord", + "Diarrhea (HPO)", + "abnormal nose", + "abnormally formed anterior chamber of eyeball", + "organ", + "Aplastic anemia (HPO)", + "uvea", + "bone marrow", + "aplasia or hypoplasia of uvea", + "abnormal skin of head morphology", + "manual digitopodium bone", + "increased length of the epicanthal fold", + "abnormal palatine uvula morphology", + "zone of skin", + "Hepatosplenomegaly (HPO)", + "skin of head", + "digitopodium region", + "bicornuate anatomical entity", + "skin of eyelid", + "epicanthal fold", + "abnormal skin of face morphology", + "abnormal muscle contraction", + "Functional intestinal obstruction (HPO)", + "head or neck skin", + "neurocranium", + "male organism", + "Abnormality of calvarial morphology (HPO)", + "abnormal vault of skull", + "growth", + "Increased head circumference (HPO)", + "malformed anatomical entity", + "neurocranium bone", + "Abnormality of connective tissue (HPO)", + "Abnormal cardiovascular system physiology (HPO)", + "pelvic girdle bone/zone", + "Abnormal pinna morphology (HPO)", + "Abnormal peripheral nervous system morphology (HPO)", + "pelvic girdle skeleton", + "abnormal artery morphology", + "vestibulo-ocular reflex", + "Abnormal hip joint morphology (HPO)", + "individual digit of digitopodial skeleton", + "thoracic cavity blood vessel", + "Abnormal joint morphology (HPO)", + "articulation", + "tetrapod frontal bone", + "limb joint", + "Pain (HPO)", + "pelvic region element", + "hip joint", + "abnormal synovial joint", + "Chronic fatigue (HPO)", + "girdle bone/zone", + "skeletal joint", + "tube morphogenesis", + "mesoderm-derived structure", + "girdle skeleton", + "Abnormality of pelvic girdle bone morphology (HPO)", + "Lower extremity joint dislocation (HPO)", + "abnormal vascular system morphology", + "Abnormal hip bone morphology (HPO)", "abnormal developmental process", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", - "Gonadal neoplasm", - "Neurodevelopmental abnormality", - "abnormal cardiovascular system morphology", - "sloped anatomical entity", - "Abnormality of mental function", - "abnormal craniocervical region morphology", - "abnormal growth", - "Leukopenia", - "abnormal kidney", - "abnormal number of anatomical enitites of type leukocyte", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", - "abnormal heart morphology", - "aplasia or hypoplasia of radius bone", - "abnormal number of anatomical entities of type anatomical entity in blood", - "Proptosis", - "changed embryo development rate", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormality of multicellular organism mass", - "Abnormal pulmonary valve physiology", - "abnormally decreased number of anatomical entity in the blood", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "abnormal myocardium morphology", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "abnormally decreased number of leukocyte in the blood", - "Melanoma", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Abnormal neck morphology", - "abnormal peritoneum morphology", - "abnormal endocrine system morphology", - "Ptosis", - "Pes planus", + "articular system", + "orbital region", + "bone of hip region", + "protein-DNA complex organization", + "process", + "pelvic appendage skeleton", + "abnormal anus morphology", + "abnormal consumption behavior", + "upper leg bone", + "abnormal voluntary musculoskeletal movement", + "Abnormality of femur morphology (HPO)", + "hindlimb bone", + "hindlimb skeleton", + "transudate", + "prominent anatomical entity", + "Abnormal lower limb bone morphology (HPO)", + "leg bone", + "hindlimb long bone", + "abnormal femur morphology", + "Abnormal thumb morphology (HPO)", + "Abnormality of limb bone morphology (HPO)", + "Neoplasm of the liver (HPO)", + "anterior uvea", + "abnormal kidney morphology", + "visual system", + "increased anatomical entity length in independent continuant", + "secondary palate", + "roof of mouth", + "intestine", + "abnormal ocular adnexa", + "Abnormality of forebrain morphology (HPO)", + "regulation of macromolecule biosynthetic process", + "anatomical space", + "digit 1", + "upper jaw region", + "increased height of the secondary palate", + "abnormal secondary palate morphology", + "zone of organ", + "Malignant neoplasm of the central nervous system (HPO)", + "connective tissue", + "ossification", + "Abnormality of the abdominal wall (HPO)", + "abnormal incomplete closing of the abdominal wall", + "decreased embryo development", + "abnormal development of anatomical entity", + "immune system process", + "Intrauterine growth retardation (HPO)", + "tube formation", + "anatomical structure development", + "Aplasia/hypoplasia of the extremities (HPO)", + "Frontal bossing (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "abnormal ductus arteriosus morphology", + "dentary", + "Abnormality of the radius (HPO)", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "abnormal testis morphology", + "abnormal breast morphology", + "Abnormal cellular physiology (HPO)", + "Abnormality of the cervical spine (HPO)", + "radius bone", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "vertebral column", + "upper limb segment", + "fallopian tube", + "abnormality of alimentary part of gastrointestinal system physiology", + "excretory tube", "decreased qualitatively sensory perception of mechanical stimulus", - "Mendelian inheritance", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "abnormally fused anatomical entity and anatomical entity", - "abnormal hemopoietic organ morphology", - "Abnormal consumption behavior", - "Abnormal male internal genitalia morphology", - "abnormally fused digit and digit", - "Arteriovenous malformation", - "Umbilical hernia", - "Clinodactyly of the 5th finger", - "Abnormal digit morphology", - "abnormally fused pedal digit and pedal digit", - "abnormal location of anatomical entity", - "abnormally fused pedal digit and anatomical entity", - "abnormal tetrapod frontal bone morphology", - "abnormality of internal ear physiology", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", - "abnormal size of multicellular organism", - "Renal insufficiency", - "increased length of the epicanthal fold", - "Peritoneal abscess", - "Cleft palate", - "abnormal pedal digit morphology", - "abnormal phenotype by ontology source", - "abnormal bone marrow cell morphology", - "Glucose intolerance", - "abnormal digit morphology", - "Abnormal conjugate eye movement", - "abnormal cardiac ventricle morphology", - "anatomical entity hypoplasia", - "Abnormal uvula morphology", - "Bicornuate uterus", + "abnormal lower urinary tract", + "subdivision of oviduct", "abnormal behavior", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal behavior process", - "Intermittent diarrhea", - "Poor appetite", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal eye movement", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal penis morphology", - "Abnormality iris morphology", - "abnormal cranium morphology", - "abnormal artery morphology in the independent continuant", - "ulna hypoplasia", - "abnormality of exocrine gland physiology", + "decreased qualitatively sensory perception of sound", + "consumption behavior", + "Hearing impairment (HPO)", + "abnormality of ear physiology", + "abnormal kidney", + "negative regulation of macromolecule biosynthetic process", + "ear", + "digit 1 plus metapodial segment", + "circulatory system", "decreased size of the mandible", - "Intestinal pseudo-obstruction", - "Abnormality of exocrine pancreas physiology", - "abnormal cardiac septum morphology", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "drooping anatomical entity", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "abnormal opening of the anatomical entity", - "Neoplasm of the liver", - "Abnormal atrial septum morphology", - "abnormal anatomical entity morphology in the heart", - "Abnormal cardiac septum morphology", - "Abnormality of the mouth", - "abnormal interventricular septum morphology", - "Overriding aorta", - "decreased muscle contraction", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "Abnormal jaw morphology", - "Meckel diverticulum", - "Ventricular hypertrophy", - "Forearm undergrowth", - "increased height of the secondary palate", - "Tetralogy of Fallot", - "Aplasia/Hypoplasia of the thumb", - "Abnormal morphology of the great vessels", - "abnormal great vessel of heart morphology", - "abnormally increased volume of anatomical entity", - "Neoplasm of the genitourinary tract", - "Abnormal ventriculoarterial connection", - "Growth delay", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "Chronic fatigue", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", - "Conotruncal defect", - "abnormal vertebra morphology", + "abnormal ear", + "Extrahepatic cholestasis (HPO)", + "abnormal soft palate morphology", + "reproductive gland", + "Cognitive impairment (HPO)", + "glandular system", + "shape forehead", + "abnormal shape of forehead", + "abnormal forehead", + "sloped forehead", + "abnormal forehead morphology", + "anatomical entity hypoplasia", + "abnormal facial skeleton morphology", + "dermal bone", + "bone of free limb or fin", + "jaw skeleton", + "Facial asymmetry (HPO)", + "facial skeleton", + "Abnormality of the ear (HPO)", "increased size of the heart right ventricle", - "Localized skin lesion", - "abnormal cardiac valve morphology", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal cerebrospinal fluid morphology", - "Abnormal cardiovascular system physiology", - "Abnormal myocardium morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "Abnormal leukocyte count", - "Facial asymmetry", - "abnormal sensory perception of sound", - "Abnormal facial shape", - "Craniofacial cleft", - "Decreased fertility", - "abnormal spatial pattern of anatomical entity", - "abnormal incomplete closing of the ductus arteriosus", - "Colon cancer", - "abnormal aortic valve morphology", - "abnormal anterior segment of eyeball morphology", + "dermal skeletal element", + "aplasia or hypoplasia of skull", + "mandible hypoplasia", + "anatomical entity hypoplasia in face", + "gastro-intestinal system smooth muscle contraction", + "bone of lower jaw", + "Medulloblastoma (HPO)", + "myocardium", + "Micrognathia (HPO)", + "abnormally increased number of anatomical entity in the independent continuant", + "pedal digit phalanx endochondral element", + "primary subdivision of skull", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Aplasia/Hypoplasia affecting the uvea (HPO)", + "chemosensory system", "aplasia or hypoplasia of skeleton", - "Abnormal facial skeleton morphology", - "bone element hypoplasia in independent continuant", - "mandible hypoplasia", - "Abnormality of skin morphology", - "Diabetes mellitus", - "abnormal mouth", - "Aplasia/Hypoplasia involving bones of the skull", + "Abnormal facial skeleton morphology (HPO)", + "abnormal ocular adnexa morphology", + "primary subdivision of cranial skeletal system", + "Pes planus (HPO)", + "dermal skeleton", + "Hypoplastic facial bones (HPO)", + "anatomical cluster", + "dermatocranium", + "Anemia of inadequate production (HPO)", + "jaw region", "facial bone hypoplasia", - "aplasia or hypoplasia of skull", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal large intestine morphology", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "Gastrointestinal obstruction", - "clavate anatomical entity", + "postcranial axial skeletal system", + "abnormal size of multicellular organism", + "abnormal mouth morphology", + "decreased biological_process in independent continuant", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "abnormal blood vessel morphology", + "Abnormal mandible morphology (HPO)", + "Abnormality of thumb phalanx (HPO)", "aplasia or hypoplasia of mandible", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormal heart morphology", - "abnormally localised anatomical entity", - "shape forehead", - "herniated abdominal wall", - "sloped forehead", - "Short forearm", - "abnormal manual digit 5 morphology", - "Sloping forehead", - "abnormality of ear physiology", + "aplasia or hypoplasia of radius bone", + "outflow part of left ventricle", + "abnormality of cranial nerve physiology", + "abnormal aortic valve morphology", + "outflow tract", + "conceptus", + "abnormal systemic artery morphology", + "Abnormality of enteric nervous system morphology (HPO)", + "vasculature of organ", + "vasculature of trunk", + "thoracic cavity element", + "heart blood vessel", + "thoracic segment blood vessel", + "renal system", + "abnormal artery morphology in the independent continuant", + "embryonic cardiovascular system", + "trunk blood vessel", + "male gamete generation", "decreased sensory perception of sound", - "abnormality of alimentary part of gastrointestinal system physiology", - "Functional intestinal obstruction", - "Functional abnormality of the gastrointestinal tract", - "Recurrent urinary tract infections", - "abnormal response to external stimulus", - "abnormal fallopian tube morphology", - "abnormal manual digit 1 morphology", - "Abnormal fallopian tube morphology", - "Syndactyly", + "Decreased head circumference (HPO)", + "abnormal asymmetry of anatomical entity", + "vault of skull", + "neural tube development", + "abnormal spatial pattern of anatomical entity", + "cardiovascular system", + "abnormal face morphology", + "anatomical entity dysfunction in independent continuant", + "Short long bone (HPO)", + "abnormal myocardium morphology", + "Abnormal myocardium morphology (HPO)", "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "abnormal late embryo", - "Deviation of the hand or of fingers of the hand", - "Aplasia/hypoplasia involving forearm bones", - "abnormal development of anatomical entity", - "aplasia or hypoplasia of ulna", - "Abnormal thumb morphology", - "abnormal cornea morphology", - "Intrauterine growth retardation", - "Neuroblastic tumor", - "abnormal breast", + "abnormally decreased functionality of the anatomical entity", + "Melanoma (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "midface", + "Gastrointestinal obstruction (HPO)", + "Abnormal heart valve morphology (HPO)", "abnormal embryo development", - "decreased embryo development", - "Hernia of the abdominal wall", - "Abnormal cell morphology", - "Abnormality of digestive system physiology", - "Abnormal palate morphology", - "Abnormality of connective tissue", - "Abnormality of the cervical spine", - "Abnormal umbilicus morphology", - "abnormal abdominal wall", - "Hernia", - "Abnormality of the abdominal wall", - "Medulloblastoma", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Neoplasm of the central nervous system", - "Abnormal intestine morphology", - "Malignant neoplasm of the central nervous system", - "Abnormal midface morphology", + "abnormal cardial valve morphology in the independent continuant", + "Abnormal heart valve physiology (HPO)", + "interventricular septum", + "increased size of the anatomical entity in independent continuant", + "tracheobronchial tree", + "zone of bone organ", + "Abdominal wall defect (HPO)", + "abnormal uterus morphology", + "lower jaw region", + "Hypoplasia of the ulna (HPO)", + "valve", + "aortic system", + "abnormal aorta morphology", + "cardiac ventricle", + "hypertrophic heart right ventricle", + "Abnormal cardiac ventricle morphology (HPO)", + "sensory perception of light stimulus", + "Abnormality of the uterus (HPO)", + "Abnormal pulmonary valve physiology (HPO)", + "abnormal incomplete closing of the interventricular septum", + "Abnormal morphology of the great vessels (HPO)", + "Overriding aorta (HPO)", + "manual digit 5", + "Abnormality of long bone morphology (HPO)", + "aorta", + "abnormally increased volume of anatomical entity", + "Tetralogy of Fallot (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "abnormal pulmonary valve morphology", + "Congenital malformation of the great arteries (HPO)", + "Abnormal aortic morphology (HPO)", + "abnormal zone of skin morphology", + "abnormal cardiac ventricle morphology in the heart", + "limb long bone", + "Colon cancer (HPO)", + "Pulmonic stenosis (HPO)", + "multicellular organism", + "negative regulation of cellular biosynthetic process", + "right cardiac chamber", + "great vessel of heart", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal cardiac atrium morphology in the independent continuant", + "prepuce of penis", + "non-connected functional system", + "Abnormal cardiac atrium morphology (HPO)", + "interatrial septum", + "abnormal heart morphology", + "autopodial skeleton", + "septum", + "Hypertelorism (HPO)", + "abnormal cornea, asymmetrically curved", + "Atrial septal defect (HPO)", + "Abnormal atrial septum morphology (HPO)", + "cellular component organization or biogenesis", + "abnormal cardiac atrium morphology", + "heart plus pericardium", + "cardiac septum", + "abnormal cardiac septum morphology", + "male accessory sex gland", + "abnormal pelvic girdle bone/zone morphology", + "abnormal interatrial septum morphology", + "decreased length of long bone", + "shape palpebral fissure", + "abnormality of exocrine pancreas physiology", + "Neuroepithelial neoplasm (HPO)", + "abnormality of pancreas physiology", + "Generalized abnormality of skin (HPO)", + "Abnormality of pancreas physiology (HPO)", + "regulation of biological quality", + "Abnormal morphology of ulna (HPO)", + "abnormality of gland physiology", + "intramembranous bone", + "heart layer", + "abnormality of exocrine gland physiology", + "anterior region of body", + "Abnormal uterus morphology (HPO)", + "Abnormality of exocrine pancreas physiology (HPO)", + "Exocrine pancreatic insufficiency (HPO)", + "serous gland", + "abnormal cellular metabolic process", + "Abnormal palate morphology (HPO)", + "enteric nervous system", + "body part movement", + "protein", + "Abnormality of eye movement (HPO)", + "decreased qualitatively pigmentation in independent continuant", + "Hypopigmented skin patches (HPO)", + "Behavioral abnormality (HPO)", + "morphological feature", + "Nausea and vomiting (HPO)", + "abnormal response to stimulus", + "Abnormal vertebral morphology (HPO)", + "abnormal shape of continuant", + "multi cell part structure", + "behavior process", + "Abnormality of the immune system (HPO)", + "abnormal eye movement", + "decreased qualitatively biological_process in independent continuant", + "constricted pulmonary valve", + "abnormal behavior process", + "Functional abnormality of the inner ear (HPO)", + "Strabismus (HPO)", + "abnormal pedal digit", + "facial bone", + "abnormal digit", + "segment of pes", + "amino acid chain", + "pectoral complex", + "segment of autopod", + "regulation of biological process", + "aplasia or hypoplasia of eyeball of camera-type eye", + "digit", + "negative regulation of gene expression", + "abnormally fused digit and anatomical entity", + "abnormally fused pedal digit and pedal digit", + "Toe syndactyly (HPO)", + "Abnormal size of the palpebral fissures (HPO)", + "Upper limb undergrowth (HPO)", + "digit plus metapodial segment", + "embryo development", + "shape longitudinal arch of pes", + "flattened anatomical entity", + "layer of muscle tissue", + "pedal digitopodium region", + "longitudinal arch of pes", + "flat anatomical entity in independent continuant", + "hindlimb", + "pelvic complex", + "tissue morphogenesis", + "Clinodactyly (HPO)", + "pedal digit bone", + "abnormal pes morphology", + "Leukopenia (HPO)", + "decreased size of the anatomical entity in the pectoral complex", + "leg", + "synovial joint of pelvic girdle", + "pes", + "decreased gastro-intestinal system smooth muscle contraction", + "Abnormality of the mouth (HPO)", + "pancreas", + "Deviation of the 5th finger (HPO)", + "abnormal craniocervical region", + "regulation of macromolecule metabolic process", + "anatomical entity", + "abnormal exocrine gland morphology", + "abnormal pancreas", + "digestive system gland", + "Abnormal external genitalia (HPO)", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "Neoplasm of the pancreas (HPO)", + "femur endochondral element", + "Abnormality of digestive system physiology (HPO)", + "Pancreatic adenocarcinoma (HPO)", + "Abnormality of the pancreas (HPO)", + "Proptosis (HPO)", + "ecto-epithelium", + "increased length of the anatomical line between pupils", + "abnormal visual perception", + "visual perception", + "abnormal abdomen morphology", + "cranial bone", + "exocrine gland", + "abnormal sensory perception of light stimulus", + "mouth", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Microphthalmia (HPO)", + "internal naris atresia", + "drooping eyelid", + "abdominal viscera", + "myeloid cell", + "blood cell", + "abdominal wall", + "changed embryo development rate", + "external genitalia", + "biogenic amine secreting cell", + "Abnormal umbilicus morphology (HPO)", + "anatomical wall", + "Abnormality of thrombocytes (HPO)", + "delayed growth", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "hypothalamus-pituitary axis", + "Abnormality of the female genitalia (HPO)", + "abnormal hypothalamus-pituitary axis", + "abnormal sensory perception of sound", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "hindlimb joint", + "bone element", + "cavitated compound organ", + "joint of girdle", + "abnormal late embryo", + "amniotic fluid", + "abnormal organelle organization", + "synovial joint", + "coronary vessel", + "morphogenesis of an epithelium", + "abnormal anatomical entity, asymmetrically curved", + "forelimb skeleton", + "main group molecular entity", + "Abnormal anterior chamber morphology (HPO)", + "Abnormality of body height (HPO)", + "regulation of cellular process", + "organonitrogen compound", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "metabolic process", + "Neurodevelopmental abnormality (HPO)", + "organic amino compound", + "heteroorganic entity", + "Choanal atresia (HPO)", + "information biomacromolecule", + "nitrogen molecular entity", + "molecular entity", + "macromolecule", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", + "abnormal location of eyeball of camera-type eye", + "curvature anatomical entity in independent continuant", + "chemical entity", + "immaterial entity", + "Fatigue (HPO)", + "non-material anatomical boundary", "abnormal oral cavity morphology", - "abnormal heart right ventricle morphology", + "abnormal location of anatomical entity", + "male germ cell", + "anatomical line", + "abnormally fused manual digit and anatomical entity", + "pes bone", + "head bone", + "urethral meatus", + "abnormal respiratory system morphology", + "male urethra", + "erythrocyte homeostasis", + "camera-type eye", + "urethral opening", + "Displacement of the urethral meatus (HPO)", + "Hearing abnormality (HPO)", + "abnormal sensory perception", + "abnormal urethra", + "Deviation of the hand or of fingers of the hand (HPO)", + "Nystagmus (HPO)", + "Abdominal symptom (HPO)", + "Abnormality of the urinary system (HPO)", + "Neoplasm of the large intestine (HPO)", + "Abnormality of the midface (HPO)", + "Intermittent diarrhea (HPO)", + "protein-containing complex organization", + "abnormal closing of the anatomical entity", + "Embryonal neoplasm (HPO)", + "Abnormal ear physiology (HPO)", + "Poor appetite (HPO)", + "Embryonal renal neoplasm (HPO)", + "abnormal upper urinary tract", + "abnormal hematopoietic system", + "aplasia or hypoplasia of palatine uvula", + "constricted duodenum", + "abnormally fused anatomical entity and anatomical entity", + "Abnormal cellular immune system morphology (HPO)", + "Abnormality of the lower urinary tract (HPO)", + "Renal neoplasm (HPO)", + "abnormal renal system", + "Abnormality of the curvature of the vertebral column (HPO)", + "multicellular organismal reproductive process", + "immune organ", + "Abnormality of brain morphology (HPO)", + "lymphoid system", + "abnormal size of liver", + "abnormal internal genitalia", + "Abnormal spleen morphology (HPO)", + "increased size of the anatomical entity", + "Almond-shaped palpebral fissure (HPO)", + "Abnormality of the curvature of the cornea (HPO)", + "ovary", + "spleen", + "Ocular anterior segment dysgenesis (HPO)", + "abnormal spleen morphology", + "abnormal endocrine gland morphology", + "Abnormality of cardiovascular system morphology (HPO)", + "increased size of the viscus", + "dorsal region element", + "abnormal spleen", + "abnormal lymphatic part of lymphoid system", + "chromatin remodeling", "abnormality of anatomical entity height", - "abnormal midface morphology", - "increased height of anatomical entity in independent continuant", - "High palate", - "abnormal renal system morphology", - "abnormal kidney morphology", - "abnormal hindlimb stylopod morphology", + "abnormal genitourinary system", + "Renal hypoplasia/aplasia (HPO)", + "forehead", + "Splenomegaly (HPO)", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "Abnormality of the anus (HPO)", + "increased size of the lymph node", + "Anorectal anomaly (HPO)", + "abnormal interventricular septum morphology", + "abnormal anatomical entity morphology in the heart", + "Abnormal fallopian tube morphology (HPO)", + "shape anatomical entity in independent continuant", + "Urinary tract neoplasm (HPO)", + "penis", + "Abnormal preputium morphology (HPO)", + "Abnormal penis morphology (HPO)", + "external soft tissue zone", + "abnormal endocrine system", + "abnormal prepuce of penis morphology", + "abnormal penis", + "excretory system", + "abnormal skeletal joint morphology", + "Arteriovenous malformation (HPO)", + "organ component layer", + "abnormal vein morphology", + "Spinal dysraphism (HPO)", + "Neoplasm of the nervous system (HPO)", + "abnormal integument", + "forelimb", + "Abnormal morphology of female internal genitalia (HPO)", + "zeugopod", + "abnormally fused manual digit and manual digit", + "limb endochondral element", + "Abnormality of the gastrointestinal tract (HPO)", + "abnormal limb", + "abnormal arm", + "Hypospadias (HPO)", + "Abnormality of the amniotic fluid (HPO)", + "Morphological central nervous system abnormality (HPO)", + "Umbilical hernia (HPO)", + "abnormal cardiac ventricle morphology", + "abnormal pigmentation", + "glans", + "paired limb/fin skeleton", + "abnormal long bone morphology", + "abnormal phenotype by ontology source", + "abnormal heart right ventricle morphology", + "Abnormality of forearm bone (HPO)", + "abnormal anatomical entity topology in independent continuant", + "heart vasculature", + "arm", + "female reproductive organ", + "skeleton of lower jaw", + "bone of appendage girdle complex", + "motile cell", + "skeleton of limb", + "Abnormal oral morphology (HPO)", + "Abnormality of the ureter (HPO)", + "forelimb zeugopod skeleton", + "cranium", + "Syndactyly (HPO)", + "pectoral appendage skeleton", + "nervous system", + "appendicular skeletal system", + "multi-limb segment region", + "Abnormality of limb bone (HPO)", + "abnormal ulna", + "abnormal breast", + "brain gray matter", + "Tracheoesophageal fistula (HPO)", + "response to stimulus", + "continuant", + "femur", + "forelimb endochondral element", + "abnormal forelimb zeugopod bone morphology", + "internal genitalia", + "forelimb bone", + "Recurrent maladaptive behavior", + "changed developmental process rate", + "abnormally increased number of brain ventricle in the independent continuant", + "Abnormality of lower limb joint (HPO)", + "abnormal biliary system", + "ulna endochondral element", + "biomacromolecule", + "appendage girdle region", + "Deviation of finger (HPO)", + "Abnormal reflex (HPO)", + "muscle contraction", + "appendicular skeleton", + "Abnormality of the outer ear (HPO)", + "limb skeleton subdivision", + "abnormal reproductive system", + "Hyperpigmentation of the skin (HPO)", + "exocrine pancreas", + "urethra", + "paired limb/fin segment", + "Abnormal upper limb bone morphology (HPO)", + "abnormal great vessel of heart morphology", + "abnormal appendicular skeleton morphology", + "increased biological_process", + "arm bone", + "abnormal hindlimb joint", + "Abnormal abdomen morphology (HPO)", + "forelimb long bone", + "abnormal limb long bone morphology", + "Abnormal skull morphology (HPO)", + "cellular component organization", + "decreased size of the eyeball of camera-type eye", + "Constitutional symptom (HPO)", + "Dolichocephaly (HPO)", + "appendage girdle complex", + "organism subdivision", + "abnormal incomplete closing of the anatomical entity", + "Abnormality of the neck (HPO)", + "abnormal internal female genitalia morphology", + "embryo", + "pectoral appendage", + "pedal digit", + "trunk", + "Abnormality of the ulna (HPO)", + "animal cell", + "Sideroblastic anemia (HPO)", + "body proper", + "Abnormality of the digestive system (HPO)", + "Abnormal large intestine morphology (HPO)", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal limb bone", + "increased qualitatively biological_process in independent continuant", + "increased pigmentation in independent continuant", + "pigmentation", + "proximo-distal subdivision of respiratory tract", + "abnormal anus", + "abnormal forebrain morphology", + "cell", + "Macule (HPO)", + "Glucose intolerance (HPO)", + "abnormally fused anatomical entity and manual digit", + "abnormally formed anatomical entity in independent continuant", + "Abnormality of the nose (HPO)", + "pnictogen molecular entity", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "Abnormality of ganglion (HPO)", + "breast", + "germ line cell", + "Abnormal bone structure (HPO)", + "abnormality of internal male genitalia physiology", + "abnormal size of spleen", + "Conotruncal defect (HPO)", + "abnormal brain ventricle/choroid plexus morphology", + "vertebral centrum element", + "Irregular hyperpigmentation (HPO)", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Localized skin lesion (HPO)", + "abdomen", + "nervous system process", + "exocrine system", + "integument", + "cellular organisms", + "autopod region", + "biliary system", + "chordate embryonic development", + "anucleate cell", + "voluntary musculoskeletal movement", + "Visual impairment (HPO)", + "sensory perception", + "Astigmatism (HPO)", + "circulatory organ", + "increased size of the spleen", + "Abnormality of male internal genitalia (HPO)", + "abnormality of male reproductive system physiology", + "face", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "Finger clinodactyly (HPO)", + "anatomical entity hypoplasia in independent continuant", + "regional part of nervous system", + "kinesthetic behavior", + "abnormally fused pedal digit and anatomical entity", + "flattened anatomical entity in independent continuant", + "abnormal male reproductive organ morphology", + "blood vessel", + "manual digit 1 phalanx", + "hepatobiliary system", + "cervical region", + "blood vasculature", + "Abnormality of the skin (HPO)", + "Abnormality of the endocrine system (HPO)", + "liver", + "epithelial tube", + "increased reflex", + "Abnormal digit morphology (HPO)", + "Abnormality of the genital system (HPO)", + "feces", + "Abnormality of the lower limb (HPO)", + "erythrocyte", + "increased length of the anatomical entity", + "telencephalon", + "Pancytopenia (HPO)", + "abnormal fallopian tube morphology", + "Abnormality of prenatal development or birth (HPO)", + "Opisthokonta", + "abnormal telencephalon morphology", + "abnormal forelimb zeugopod bone", + "abnormal cellular process", + "hindlimb endochondral element", + "p-block molecular entity", + "Dermatological manifestations of systemic disorders (HPO)", + "Eumetazoa", + "decreased qualitatively visual perception", + "organism", + "Microcephaly (HPO)", + "frontal lobe", + "pedal digit plus metapodial segment", + "ventricle of nervous system", + "abnormal biological_process in independent continuant", + "lower respiratory tract", + "upper digestive tract", + "shape cornea", + "forebrain", + "Eukaryota", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal multicellular organismal reproductive process", + "root", + "Abnormal ventriculoarterial connection (HPO)", + "manual digit bone", + "Abnormal eye physiology (HPO)", + "Abnormal shape of the palpebral fissure (HPO)", + "abnormal shape of palpebral fissure", + "abnormal internal naris", + "vessel", + "vasculature", + "Abnormal systemic arterial morphology (HPO)", + "abnormal systemic arterial system morphology", + "Abnormality of the cardiovascular system (HPO)", + "Intellectual disability (HPO)", + "Abnormal blood vessel morphology (HPO)", + "Abnormality of the vasculature (HPO)", + "digit 5 plus metapodial segment", + "Abnormality of metabolism/homeostasis (HPO)", + "Chromosome breakage (HPO)", + "abnormal common carotid artery plus branches morphology", + "Abnormal platelet morphology (HPO)", + "anatomical projection", + "systemic arterial system", + "upper eyelid", + "Hepatomegaly (HPO)", + "Epicanthus (HPO)", + "negative regulation of biological process", + "abnormal cardiovascular system morphology", + "common carotid artery plus branches", + "abnormal head bone morphology", + "abnormal leg", + "nerve of head region", + "Abnormal myeloid cell morphology (HPO)", + "abnormal vasculature", + "abnormal cardiovascular system", + "abnormality of nervous system physiology", + "abnormal liver morphology", + "left cardiac chamber", + "Abnormality of enteric ganglion morphology (HPO)", + "trunk region element", + "external ear", + "ulna", + "abnormal amniotic fluid", + "Abnormal cerebral morphology (HPO)", + "vein", + "abnormal incomplete closing of the interatrial septum", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "hypertrophic cardiac ventricle", + "abnormal immune system", + "oviduct", + "Abnormal eye morphology (HPO)", + "anatomical entity atresia", + "Diabetes mellitus (HPO)", + "abnormal asymmetry of face", + "internal naris", "abnormal physiologic nystagmus", - "abnormal femur morphology", - "Abnormality of femur morphology", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "skeletal joint dislocation", - "abnormal pelvic girdle bone/zone morphology", - "Increased head circumference", - "Abnormal hip bone morphology", - "Lower extremity joint dislocation", - "Abnormal joint morphology", - "Abnormal cerebral morphology", - "Joint dislocation", - "Micrognathia", - "anatomical entity dislocation", - "abnormal synovial joint of pelvic girdle morphology", - "abnormal hip joint morphology", - "abnormal vault of skull", - "Abnormality of the ovary", - "Abnormal aortic morphology", - "Abscess", + "skeleton of pelvic complex", + "respiratory airway", + "abnormal internal male genitalia", + "kidney", + "heart right ventricle", + "posterior nasal aperture atresia", + "epithelial tube morphogenesis", + "abnormal bone of pectoral complex morphology", + "arterial system", + "Abnormal foot morphology (HPO)", + "orifice of skull", + "phenotype by ontology source", + "Weight loss (HPO)", + "olfactory organ", + "long bone", + "Abnormal neck morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Male reproductive system neoplasm (HPO)", + "abnormal posterior nasal aperture morphology", + "Back pain (HPO)", + "Abnormal bone ossification (HPO)", + "Abnormality of the urethra (HPO)", + "nose", + "endocrine system", + "skull", + "Abnormality of the choanae (HPO)", + "peritoneum", + "gonad", + "abnormal lens of camera-type eye", + "Primary peritoneal carcinoma (HPO)", + "abnormal digestive system", + "Abnormal male urethral meatus morphology (HPO)", + "Abnormality of digestive system morphology (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "negative regulation of macromolecule metabolic process", + "abnormally fused anatomical entity and digit", + "digestive system element", + "trunk or cervical vertebra", + "Abnormal enzyme/coenzyme activity (HPO)", "abnormal external genitalia", - "abnormal size of head", - "increased size of the head", + "Visceromegaly (HPO)", + "Growth abnormality (HPO)", + "Decreased body weight (HPO)", + "craniocervical region", + "abnormal connective tissue", + "aortic valve", + "abnormal eyeball of camera-type eye", + "abnormal hip joint morphology", + "testis", + "Peritoneal abscess (HPO)", + "Abnormal appendicular skeleton morphology (HPO)", + "pedal digitopodium bone", + "brain ventricle/choroid plexus", + "abnormal small intestine", + "abnormal vestibulo-ocular reflex", + "anatomical cavity", + "Abnormality of corneal shape (HPO)", + "Decreased anatomical entity mass", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "independent continuant", + "Meckel diverticulum (HPO)", + "pelvic region of trunk", + "Ptosis (HPO)", + "increased biological_process in skin of body", + "respiratory system", + "abnormal growth", + "abnormality of multicellular organism mass", + "eukaryotic cell", + "organ system subdivision", + "Cataract (HPO)", + "Hypogonadism (HPO)", + "Abnormal immune system morphology (HPO)", + "abnormal umbilicus morphology", + "increased pigmentation", + "structure with developmental contribution from neural crest", + "male urethral meatus", + "clavate anatomical entity", + "leukocyte", + "Clubbing of toes (HPO)", + "blood", + "small intestine", + "secretory cell", + "autopodial extension", + "eyelid", + "embryonic morphogenesis", + "subdivision of organism along main body axis", + "Abnormality of vision (HPO)", + "eye", + "tissue", + "Abnormality of mental function", + "abnormal trachea morphology", + "Abnormality of the cerebrospinal fluid (HPO)", + "digit 5", + "Abnormal enzyme concentration or activity", + "hemopoiesis", + "Metazoa", + "multicellular organism reproduction", + "abnormal tracheobronchial tree morphology", + "subdivision of tube", + "manual digitopodium region", + "abnormal bone element mass density", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "skin of body", + "entire sense organ system", + "Abnormality of the phalanges of the toes (HPO)", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "male reproductive organ", + "multi-tissue structure", + "Cranial nerve paralysis (HPO)", + "simple eye", + "abnormal biological_process", + "abnormal alimentary part of gastrointestinal system", + "neural crest-derived structure", + "Abnormality of the abdominal organs (HPO)", + "arterial blood vessel", + "viscus", + "limb bone", + "thoracic segment organ", + "venous blood vessel", + "esophagus", + "Abnormal shape of the frontal region (HPO)", + "late embryo", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal external male genitalia", + "digestive tract", + "Abnormal uvea morphology (HPO)", + "Jaundice (HPO)", + "decreased length of anatomical entity", + "Hernia of the abdominal wall (HPO)", + "quality", + "abnormal digestive system morphology", + "Global developmental delay (HPO)", + "umbilicus", + "vascular system", + "Abnormality of the vertebral column (HPO)", + "Mode of inheritance (HPO)", + "Abnormal spermatogenesis (HPO)", + "abnormal anterior segment of eyeball morphology", + "anatomical line between pupils", + "ocular adnexa", + "skeleton of manual digitopodium", + "subdivision of digestive tract", + "endoderm-derived structure", + "Abnormality of the respiratory system (HPO)", + "forelimb zeugopod bone", + "Triphalangeal thumb (HPO)", + "asymmetrically curved anatomical entity", + "abnormal cardial valve morphology", + "Cholestasis (HPO)", + "nucleate cell", + "bone element hypoplasia in face", + "digestive system", + "abnormal ovary", + "abdominal segment element", + "radius endochondral element", + "abnormal respiratory tube morphology", + "abnormal multicellular organism morphology", + "Aplasia/Hypoplasia affecting the anterior segment of the eye (HPO)", + "Abnormality of the liver (HPO)", + "response to external stimulus", + "Abnormal respiratory system morphology (HPO)", + "material anatomical entity", + "skeleton of pedal digitopodium", + "abnormal reproductive process", + "Abnormal cerebral cortex morphology (HPO)", + "abnormal esophagus morphology", + "palpebral fissure", + "lens of camera-type eye", + "behavior", + "abnormal palpebral fissure", + "haploid cell", + "ectoderm-derived structure", + "gray matter of telencephalon", + "parasympathetic nervous system", + "increased qualitatively biological_process", + "vertebra", + "decreased biological_process in multicellular organism", + "hypertrophic multicellular anatomical structure", + "spermatogenesis", + "occurrent", + "Joint dislocation (HPO)", + "internal male genitalia", + "Abnormal testis morphology (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "negative regulation of metabolic process", + "Abnormal heart morphology (HPO)", + "abnormal gamete generation", + "Abnormal frontal bone morphology (HPO)", + "Abnormal erythrocyte morphology (HPO)", + "somatic cell", + "physiologic nystagmus", + "Intestinal pseudo-obstruction (HPO)", + "Abnormality of skin morphology (HPO)", + "gamete generation", + "abnormal enteric ganglion morphology", + "Abnormality of male external genitalia (HPO)", + "ocular surface region", + "hemopoietic organ", + "developmental process", + "Neoplasm of the central nervous system (HPO)", + "reproductive process", + "multicellular organismal process", + "abnormal opening of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of reproductive system physiology (HPO)", + "decreased length of neck", + "Absent testis (HPO)", + "abnormal semi-lunar valve morphology", + "reproductive structure", + "cognition", + "obsolete cell", + "Abnormal nervous system physiology (HPO)", + "serotonin secreting cell", + "decreased biological_process", + "Abnormal conjugate eye movement (HPO)", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "Hydrocephalus (HPO)", + "bone of pectoral complex", + "neck", + "semen", + "flat anatomical entity", + "cranial nerve related reflex", + "abnormal anatomical entity morphology in the independent continuant", + "multicellular organism development", + "abnormality of cardiovascular system physiology", + "abnormal spermatogenesis", + "increased height of anatomical entity in independent continuant", + "germ cell", + "stylopod", + "immune system", + "organ part", + "appendage", + "changed biological_process rate in independent continuant", + "gamete", + "regional part of brain", + "abnormal endocrine system morphology", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal anatomical entity mass density", + "decreased developmental process", + "Multiple cafe-au-lait spots (HPO)", + "changed biological_process rate", + "Abnormal glucose homeostasis (HPO)", + "limb", + "male gamete", + "mandible", + "zeugopodial skeleton", + "ileum", + "abnormal peripheral nervous system", + "olfactory system", + "Aplasia/Hypoplasia of the testes (HPO)", + "Abnormal ventricular septum morphology (HPO)", + "Abnormal cell morphology (HPO)", + "increased size of the abdominal viscera", + "Abnormality of the integument (HPO)", + "Short neck (HPO)", + "protein-containing material entity", + "Abnormal connection of the cardiac segments (HPO)", + "abnormal anatomical entity, curved", + "sexual reproduction", + "subdivision of skeleton", + "bone cell", + "heart", + "biological_process", + "cardiac chamber", + "abnormal anatomical entity morphology", + "cardiac valve", + "abnormal gland morphology", + "Hip dislocation (HPO)", + "decreased spermatogenesis", + "hematopoietic cell", + "cervical vertebra", + "hip", + "sensory perception of mechanical stimulus", + "organic molecular entity", + "tunica fibrosa of eyeball", + "Reduced bone mineral density (HPO)", + "cardiac atrium", + "abnormal manual digit 1 morphology", + "Neoplasm by histology (HPO)", + "homeostasis of number of cells", + "abnormal size of skull", + "Nephroblastoma (HPO)", + "abnormal hemopoietic organ morphology", + "subdivision of vertebral column", + "transparent eye structure", + "abnormal anatomical entity morphology in the brain", + "Abnormal venous morphology (HPO)", + "multi organ part structure", + "abnormal midface", + "erythroid lineage cell", + "flat bone", + "Hernia (HPO)", + "hematopoietic system", + "genitourinary system", + "endochondral element", + "Abnormality of head or neck (HPO)", + "Abnormality of the synovia (HPO)", + "abnormal lymph node morphology", + "Neoplasm by anatomical site (HPO)", + "anatomical structure", + "Sloping forehead (HPO)", + "abnormal nervous system morphology", + "abnormal female reproductive system", + "Genital neoplasm (HPO)", + "abnormality of reproductive system physiology", + "abnormal reproductive system morphology", + "Gonadal neoplasm (HPO)", + "abnormal cornea, curved", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of the lymph nodes (HPO)", + "organism substance", + "reproductive organ", + "Abnormality of globe size (HPO)", + "Abnormal eyelid morphology (HPO)", + "Neoplasm (HPO)", + "cranial nerve", + "abnormality of camera-type eye physiology", + "abnormal uvea morphology", "abnormal skeletal system", - "Abnormal calvaria morphology", - "Dolichocephaly", - "abnormal neural tube closure", - "abnormal skin of head morphology", - "abnormal long bone morphology", - "Ovarian carcinoma", - "abnormal skin of face morphology", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "abnormal chromatin organization", - "abnormal nitrogen compound metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal roof of mouth morphology", - "prominent anatomical entity", - "Chromosome breakage", + "Abnormal nervous system morphology (HPO)", + "forelimb zeugopod bone hypoplasia", + "Growth delay (HPO)", + "acropodium region", + "ventricular system of central nervous system", + "dorsum", + "tissue development", + "central nervous system", + "immaterial anatomical entity", + "Abnormal reproductive system morphology (HPO)", + "haemolymphatic fluid", + "musculature of body", + "native cell", + "ventricular system of brain", + "axial skeleton plus cranial skeleton", + "palatine uvula", + "disconnected anatomical group", + "intromittent organ", + "brain ventricle", + "Abnormality of the head (HPO)", + "hemolymphoid system", + "alimentary part of gastrointestinal system", + "system", + "Abnormality of skull size (HPO)", + "external male genitalia", + "abnormal shape of cornea", + "abnormal anatomical entity morphology in the pectoral complex", + "High palate (HPO)", + "abnormal cornea morphology", + "bodily fluid", + "Abnormal right ventricle morphology (HPO)", + "Abnormal leukocyte count (HPO)", + "Abnormality of the calvaria (HPO)", + "Abnormal pulmonary valve morphology (HPO)", + "respiratory tract", + "Abnormality of immune system physiology (HPO)", + "gray matter", + "Abnormal consumption behavior (HPO)", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "Abnormal form of the vertebral bodies (HPO)", + "aplasia or hypoplasia of telencephalon", "abnormal metabolic process", - "Lymphadenopathy", - "increased size of the lymph node", - "abnormal DNA metabolic process", - "abnormal cellular component organization", - "abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "Abnormal soft palate morphology", - "Aplasia/Hypoplasia of the uvula", - "abnormal uterus", - "Abnormality of the uterus", - "abnormal uterus morphology", - "Functional abnormality of the inner ear", - "shape uterus", + "abnormal brain morphology", + "upper urinary tract", + "delayed biological_process", + "skeletal system", + "manual digit plus metapodial segment", + "abnormal nervous system", + "neuron projection bundle", + "abnormal orbital region", + "orifice", + "Functional abnormality of the gastrointestinal tract (HPO)", + "innominate bone", + "abnormally increased number of anatomical entity", + "trunk bone", + "Abnormality of the forehead (HPO)", + "material entity", + "Abnormality of the biliary system (HPO)", + "abnormal head", + "Hydroureter (HPO)", + "asymmetrically curved cornea", + "abnormal central nervous system morphology", + "artery", + "abnormal male reproductive system", + "lower digestive tract", + "curved anatomical entity", + "abnormal bone of pelvic complex morphology", + "excreta", + "Limb undergrowth (HPO)", + "Abnormal facial shape (HPO)", + "curved anatomical entity in independent continuant", + "Abnormality of the spleen (HPO)", + "eyeball of camera-type eye", + "Aplasia/Hypoplasia of facial bones (HPO)", + "Abnormality of limbs (HPO)", + "reproduction", + "curvature anatomical entity", + "abnormal nerve", + "musculoskeletal system", + "abnormal camera-type eye morphology", + "abnormal cervical vertebra", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of refraction (HPO)", "3-D shape anatomical entity", - "abnormal glucose homeostasis", - "abnormal cellular process", - "abnormal carbohydrate homeostasis", - "Abnormal glucose homeostasis", - "Abnormal homeostasis", - "decreased length of palpebral fissure", - "increased pigmentation", - "Abnormal skeletal morphology", - "Short palpebral fissure", - "Gastrointestinal dysmotility", - "decreased length of forelimb zeugopod bone", - "abnormal incomplete closing of the interatrial septum", - "Decreased multicellular organism mass", - "abnormal consumption behavior", - "Aplasia/Hypoplasia of the ulna", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", - "decreased size of the anatomical entity in the pectoral complex", - "forelimb zeugopod bone hypoplasia", - "Primitive neuroectodermal tumor", - "changed developmental process rate", - "abnormal musculoskeletal movement", - "Nervous tissue neoplasm", - "Abnormality of the gastrointestinal tract", - "Neuroepithelial neoplasm", + "abdominal segment bone", + "Abnormality of the testis size (HPO)", + "decreased length of digit", + "abnormality of anatomical entity physiology", + "anterior segment of eyeball", + "multicellular organismal-level homeostasis", + "Abnormality of the male genitalia (HPO)", + "skeletal element", + "abnormal vertebral column", + "sensory system", + "abnormal innominate bone morphology", + "abnormality of anatomical entity mass", + "bone of craniocervical region", + "chromatin organization", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "abnormal cerebrospinal fluid", + "abnormal face", + "Abnormality of the lens (HPO)", + "reproductive system", + "abnormal phalanx of manus morphology", + "Neoplasm of the genitourinary tract (HPO)", + "aplasia or hypoplasia of anatomical entity", + "primary circulatory organ", + "cornea", + "Abnormality of the peripheral nervous system (HPO)", + "oral cavity", + "abnormal respiratory system", + "Abnormal male reproductive system physiology (HPO)", + "drooping anatomical entity", + "paired limb/fin", + "abnormal anatomical entity", + "Abnormal hand morphology (HPO)", + "cervical region of vertebral column", + "sensory perception of sound", + "bone of jaw", + "abnormal coronary vessel morphology", + "abnormal ulna morphology", + "irregular bone", + "dorsal part of neck", + "embryonic structure", + "cervical vertebra endochondral element", + "bone of dorsum", + "Abnormality of the genitourinary system (HPO)", + "nervous system cell part layer", "abnormal gastro-intestinal system smooth muscle contraction", - "decreased gastro-intestinal system smooth muscle contraction", - "abnormal muscle contraction", - "abnormal face morphology", - "abnormal intestine morphology", - "Neoplasm of the colon", - "abnormal hindlimb morphology", - "abnormal breast morphology", - "abnormal chest", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal breast morphology", - "Abnormality of the skin", - "Abnormality of the breast", - "Abnormality of skin pigmentation", - "abnormal chest morphology", - "Abnormality of body height", - "Abnormality of the eye", - "decreased size of the ulna", - "decreased height of the anatomical entity", - "Abnormality of the vertebral column", - "Short stature", - "decreased size of the anatomical entity", - "non-functional kidney", - "abnormal anatomical entity morphology in the pelvic complex", - "decreased height of the multicellular organism", - "Abnormality of bone marrow cell morphology", - "abnormal large intestine morphology", - "Anemia", - "abnormal cardiac valve morphology in the heart", - "Splenomegaly", - "Abnormality of the hand", - "Abnormal erythrocyte morphology", - "decreased pigmentation in skin of body", - "Abnormal finger morphology", - "abnormal erythrocyte morphology", - "abnormal outflow part of left ventricle morphology", - "abnormal internal ear", - "abnormal vestibulo-ocular reflex", - "Abnormal vestibular function", - "Nystagmus", - "Cryptorchidism", - "paralysed anatomical entity", - "Abnormal gastrointestinal motility", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "paralysed cranial nerve", - "Abnormality of the peripheral nervous system", + "vertebral element", + "decreased size of the anatomical entity in the independent continuant", + "decreased length of anatomical entity in independent continuant", + "endochondral bone", + "ganglion", + "abnormal anterior chamber of eyeball morphology", + "abnormal mouth", + "abnormal pigmentation in independent continuant", + "Abnormal oral cavity morphology (HPO)", + "abnormal incomplete closing of the ductus arteriosus", + "Clubbing (HPO)", + "shape anatomical entity", + "Abnormal axial skeleton morphology (HPO)", + "clavate digit", + "abnormal size of anatomical entity", + "lymphatic part of lymphoid system", + "Hypopigmentation of the skin (HPO)", + "Anemia (HPO)", + "Neuroectodermal neoplasm (HPO)", + "Phenotypic abnormality (HPO)", "abnormal peripheral nervous system morphology", - "Cranial nerve paralysis", - "Sideroblastic anemia", - "Abnormality of the hypothalamus-pituitary axis", - "deviation of anatomical entity", - "Visual impairment", - "deviation of manual digit towards the middle", - "deviation of manual digit 5 towards the middle", - "abnormal parasympathetic ganglion morphology", - "deviation of digit towards the middle", - "abnormal location of eyeball of camera-type eye", - "deviation of manual digit 5", - "deviation of manual digit", - "Abnormality of bone mineral density", - "decreased length of manual digit", - "aplasia or hypoplasia of manual digit", - "Short digit", - "decreased length of manual digit 1", - "Aplasia/Hypoplasia of fingers", - "Pain", - "Short thumb", - "Prostate neoplasm", - "Short finger", - "Spinal dysraphism", - "Congenital malformation of the great arteries", - "decreased pigmentation in multicellular organism", - "Hypopigmentation of the skin", - "Abnormality of the urinary system physiology", - "Hypopigmented skin patches", - "decreased multicellular organism mass", - "decreased qualitatively pigmentation", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "abnormal abdomen morphology", - "abnormal phalanx morphology", - "lymph node hyperplasia", - "Abnormal toe phalanx morphology", - "abnormal phalanx of pes morphology", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal lymph node morphology", - "Abnormal autonomic nervous system morphology", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal small intestine", - "Azoospermia", - "Abnormal small intestine morphology", + "Oligohydramnios (HPO)", + "Abnormal skeletal morphology (HPO)", + "vestibulo-auditory system", + "Abnormality of the upper urinary tract (HPO)", + "muscle system process", + "regulation of gene expression", + "ductus arteriosus", "abnormal eyelid morphology", - "Back pain", - "Abnormal peritoneum morphology", - "Neural tube defect", - "Reduced impulse control", - "Recurrent maladaptive behavior", - "Abnormality of lower limb joint", - "abnormal heart layer morphology", - "Abnormal frontal bone morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "abnormal frontal cortex morphology", - "abnormal shape of frontal cortex", - "Abnormal shape of the frontal region", - "increased qualitatively biological_process", - "Abnormal cerebral cortex morphology", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal homeostatic process", - "abnormal lymph node morphology", - "abnormal size of lymph node", - "abnormally decreased functionality of the gonad", - "Puberty and gonadal disorders", - "Male reproductive system neoplasm", - "Orofacial cleft", - "Abnormality of immune system physiology", - "abnormal enteric ganglion morphology", - "Unusual infection", - "abnormal size of anatomical entity", - "abnormal esophagus morphology", - "abnormality of renal system physiology", - "Abnormal lens morphology", - "Abnormal respiratory system morphology", - "Multiple cafe-au-lait spots", - "increased qualitatively response to stimulus", - "Hyperreflexia", - "increased reflex", - "Decreased fertility in males", - "abnormality of exocrine pancreas physiology", - "Abnormal ureter morphology", - "absent anatomical entity in the independent continuant", - "abnormal ureter", - "changed biological_process rate in independent continuant", - "abnormality of kidney physiology", - "Abnormal duodenum morphology", - "Abnormal foot morphology", - "Duodenal stenosis", - "Right ventricular hypertrophy", - "Global developmental delay", - "abnormal neural tube morphology", - "abnormal bony vertebral centrum morphology", - "Abnormal spinal cord morphology", - "non-functional anatomical entity", - "Abnormal vertebral morphology", + "abnormal liver", + "Abnormality of ganglion of peripheral nervous system (HPO)", + "abnormally fused anatomical entity and pedal digit", + "axial skeletal system", + "lower urinary tract", + "abnormal neck morphology", + "decreased qualitatively pigmentation", + "cranial skeletal system", + "anatomical collection", + "abnormal skeletal system morphology", + "compound organ", + "Short stature (HPO)", + "Upslanted palpebral fissure (HPO)", + "decreased qualitatively reproductive process", + "Ovarian neoplasm (HPO)", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "Abnormal renal morphology (HPO)", + "venous system", + "increased size of the head", + "Abnormality of the palpebral fissures (HPO)", + "constricted anatomical entity", + "Hypermelanotic macule (HPO)", + "abdomen element", + "Abnormal vascular morphology (HPO)", + "subdivision of trunk", + "respiratory tube", + "decreased pigmentation in multicellular organism", + "Abnormal ocular adnexa morphology (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "Abnormality of the lymphatic system (HPO)", + "Abnormality of the upper limb (HPO)", + "Abnormality of body weight (HPO)", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "sense organ", + "gland", + "abnormal cardiac atrium morphology in the heart", + "abnormal postcranial axial skeleton morphology", + "entity", + "systemic artery", + "abnormal skin of body", + "manual digit 5 plus metapodial segment", + "abnormal size of head", + "Abnormality of the ocular adnexa (HPO)", + "flat longitudinal arch of pes", + "Abnormality of the face (HPO)", + "increased size of the brain ventricle", + "abnormally fused digit and digit", + "Ventricular septal defect (HPO)", + "subdivision of head", + "abdominal segment of trunk", + "aplasia or hypoplasia of manual digit", + "heart left ventricle", + "tube", + "Neoplasm of the gastrointestinal tract (HPO)", + "future central nervous system", + "sloped anatomical entity", + "increased size of the liver", + "anatomical system", + "Abnormal cornea morphology (HPO)", + "concave 3-D shape anatomical entity", + "autonomic ganglion", + "naris", + "female reproductive system", + "Abnormal endocrine morphology (HPO)", + "Abscess (HPO)", + "skin of face", + "decreased qualitatively developmental process", + "sperm", + "Cardiomyopathy (HPO)", + "Abnormal cellular phenotype (HPO)", + "female organism", + "cell development", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "male reproductive system", + "phenotype", + "All (HPO)", + "abnormal size of eyeball of camera-type eye", + "Decreased multicellular organism mass", + "abnormality of digestive system physiology", + "Abnormality of the ovary (HPO)", + "decreased anatomical entity mass", + "biological regulation", + "carbon group molecular entity", + "trachea", + "Ventriculomegaly (HPO)", + "Phenotypic abnormality", + "platelet", + "skeleton", + "manual digit", + "abnormal large intestine morphology", + "main body axis", ], "has_phenotype_count": 145, "highlight": None, @@ -8093,632 +12348,1148 @@ def autocomplete(): "HP:0025023", ], "has_phenotype_label": [ - "Chromosome breakage", - "Hydronephrosis", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", - "Hypoplasia of the radius", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", - "Short stature", - "Small thenar eminence", - "Stage 5 chronic kidney disease", - "Rectal atresia", + "Chromosome breakage (HPO)", + "Hydronephrosis (HPO)", + "Absent thumb (HPO)", + "Abnormal heart morphology (HPO)", + "Anal atresia (HPO)", + "Hypoplasia of the radius (HPO)", + "Cryptorchidism (HPO)", + "Short thumb (HPO)", + "Proximal placement of thumb (HPO)", + "Renal cyst (HPO)", + "External genital hypoplasia (HPO)", + "Short stature (HPO)", + "Small thenar eminence (HPO)", + "Stage 5 chronic kidney disease (HPO)", + "Rectal atresia (HPO)", ], "has_phenotype_closure": [ - "HP:0011100", - "UPHENO:0087346", - "UPHENO:0002714", - "HP:0025023", - "HP:0012718", - "HP:0002250", - "HP:0011024", - "UPHENO:0002725", - "UPHENO:0076783", + "UBERON:0013765", "UPHENO:0063629", - "HP:0002034", - "HP:0012732", - "UPHENO:0076735", - "HP:0002589", + "NCBITaxon:33154", + "UBERON:0004921", + "UPHENO:0063632", + "UPHENO:0063639", + "UPHENO:0020717", + "UBERON:0004907", + "UBERON:0006866", + "NCBITaxon:6072", "UPHENO:0076773", + "UBERON:0000481", + "HP:0002034", "HP:0003774", "UPHENO:0002411", + "UPHENO:0002442", + "HP:0100871", + "HP:0001245", + "UPHENO:0002816", + "UBERON:0017716", + "UPHENO:0076710", + "HP:0011805", + "HP:0001421", + "NCBITaxon:131567", + "UBERON:0014793", + "UPHENO:0002649", + "UBERON:0004480", + "UBERON:0007269", + "UBERON:0001015", + "HP:0001510", + "HP:0001507", + "GO:0040007", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0080351", + "HP:0003241", + "MPATH:55", + "MPATH:603", + "MPATH:56", + "UPHENO:0002786", + "HP:0000107", + "UPHENO:0002655", + "HP:0009623", + "HP:0004097", + "UPHENO:0046411", + "UPHENO:0020795", + "HP:0011927", + "HP:0009381", + "UPHENO:0046624", + "UBERON:0005156", + "HP:0009484", + "GO:0003006", + "GO:0048609", + "GO:0000003", + "GO:0032504", + "HP:0012243", + "UPHENO:0053580", + "NCBITaxon:2759", + "UPHENO:0052178", + "UPHENO:0050101", + "HP:0000811", + "UBERON:0004175", + "UBERON:0008878", + "UBERON:0003135", + "UBERON:0003101", + "UBERON:0000383", + "CL:0000003", + "UPHENO:0002597", + "UPHENO:0050108", + "UPHENO:0002371", + "UPHENO:0000541", + "UPHENO:0003055", + "UPHENO:0002598", + "UBERON:0003133", + "UBERON:0008837", + "UPHENO:0020950", + "UPHENO:0049985", + "HP:0000027", + "UPHENO:0002599", + "HP:0011961", + "CL:0000015", + "UBERON:0013522", + "CL:0000408", + "GO:0032502", + "GO:0022414", + "UPHENO:0002595", + "HP:0000025", + "HP:0009603", + "HP:0012874", + "UPHENO:0082875", + "HP:0000022", + "UBERON:0000990", + "HP:0003011", + "UPHENO:0005597", + "UPHENO:0002378", + "UPHENO:0021284", + "CL:0000586", + "UBERON:0001353", + "GO:0007283", + "GO:0007276", + "GO:0019953", + "UBERON:0004053", + "UPHENO:0076727", + "UPHENO:0002332", + "UBERON:0000079", + "UPHENO:0078729", + "UPHENO:0021561", + "UBERON:0005913", + "UBERON:0003466", + "UPHENO:0081792", + "UPHENO:0075944", + "HP:0005773", + "UPHENO:0069294", + "UPHENO:0049970", + "UBERON:0000473", "HP:0012211", - "HP:0011277", - "UPHENO:0002442", + "HP:0001227", + "HP:0006503", + "HP:0045009", + "HP:0006501", + "UPHENO:0012541", + "CL:0000019", + "HP:0009821", + "UBERON:0003103", + "UPHENO:0068971", + "UPHENO:0081313", + "HP:0040073", + "HP:0002973", + "HP:0009778", + "HP:0000812", + "HP:0002984", + "UBERON:0002386", + "UBERON:0002102", + "UPHENO:0005651", + "UPHENO:0012274", + "UPHENO:0020609", "UPHENO:0081433", - "UPHENO:0088142", - "HP:0003011", - "UPHENO:0002655", + "UPHENO:0002719", + "HP:0003026", + "UBERON:0010703", + "UPHENO:0002751", + "UPHENO:0080382", + "UPHENO:0046540", "UPHENO:0081341", - "UPHENO:0063632", - "HP:0001421", - "HP:0001227", - "HP:0009127", - "UPHENO:0000541", - "UPHENO:0069254", - "UPHENO:0000543", - "UPHENO:0080351", + "UBERON:0001245", + "UBERON:0003221", + "UPHENO:0076803", + "HP:0003839", + "UPHENO:0001072", + "UBERON:0000025", + "HP:0005918", + "UBERON:0000161", + "UPHENO:0074228", + "UBERON:0010363", + "UPHENO:0076740", + "UPHENO:0076735", + "UPHENO:0020869", + "UBERON:0010707", + "UPHENO:0002833", + "UBERON:0001434", "UPHENO:0063599", - "UPHENO:0063565", - "HP:0011017", - "HP:0030680", - "HP:0000083", + "HP:0011024", + "UPHENO:0046707", "UPHENO:0026506", - "HP:0000027", - "UPHENO:0008523", - "UPHENO:0006910", - "UPHENO:0011498", - "HP:0001155", - "UPHENO:0084766", - "UPHENO:0021561", - "UPHENO:0080126", - "UPHENO:0076810", - "UPHENO:0002830", + "UBERON:0001555", + "UBERON:0004176", + "UBERON:0002428", + "UPHENO:0046538", + "HP:0000002", + "HP:0011842", + "HP:0004378", + "HP:0025033", + "UBERON:0001007", + "HP:0011100", + "UBERON:0005181", + "HP:0002023", "UPHENO:0080362", - "UPHENO:0076776", - "HP:0011793", - "UPHENO:0084448", - "HP:0009824", - "HP:0009115", - "UPHENO:0080079", - "HP:0011844", - "UPHENO:0086172", - "UPHENO:0087501", - "HP:0009601", - "HP:0001507", + "UBERON:0002075", + "UBERON:0010314", + "HP:0000119", + "UBERON:0004535", + "UBERON:0005178", + "UBERON:0034929", + "UBERON:0000991", "HP:0040070", - "HP:0006265", - "HP:0011805", - "HP:0009777", - "UPHENO:0002595", - "UPHENO:0003055", - "UPHENO:0026181", - "HP:0003241", - "HP:0011297", - "UPHENO:0002649", - "UPHENO:0084761", - "HP:0003026", + "GO:0048519", + "UBERON:0000948", + "UBERON:0012358", + "UBERON:0001008", + "UBERON:0012357", + "UBERON:0001437", + "UBERON:0005090", + "UPHENO:0049587", + "UBERON:0002470", + "UPHENO:0076754", + "UBERON:0000160", + "UBERON:0004120", + "UBERON:0034923", + "UPHENO:0079876", + "HP:0009380", + "UPHENO:0084448", + "UPHENO:0002832", + "UBERON:0001009", + "UBERON:0001968", + "UPHENO:0084444", + "UPHENO:0081451", + "UBERON:0012139", + "UPHENO:0050021", + "UBERON:0002544", "UPHENO:0002964", - "UPHENO:0005016", - "HP:0000119", - "UPHENO:0080099", - "HP:0004322", - "UPHENO:0002833", + "UPHENO:0081755", + "UPHENO:0075696", + "HP:0006505", + "HP:0001167", + "UBERON:5002389", + "UBERON:0015001", + "GO:0065007", + "UBERON:0010543", + "UBERON:0002113", + "UBERON:0015021", + "UBERON:5102544", + "UBERON:0000064", + "UBERON:0004446", + "HP:0040072", + "UBERON:0002204", + "UBERON:0012150", + "UPHENO:0076724", "HP:0000924", - "UPHENO:0076703", - "UPHENO:0084771", + "UPHENO:0002905", + "UPHENO:0020041", + "UPHENO:0026023", + "UBERON:0001224", + "UPHENO:0080325", + "HP:0010944", + "UPHENO:0020853", + "UBERON:5002544", + "HP:0010577", + "HP:0045060", + "HP:0009824", + "HP:0040068", + 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"UPHENO:0002786", - "UPHENO:0075893", - "UPHENO:0086128", - "UPHENO:0049587", - "UPHENO:0076740", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0050113", - "HP:0034058", - "UPHENO:0002896", - "UPHENO:0084829", - "HP:0012210", - "HP:0001167", - "HP:0040064", + "UBERON:0012475", + "HP:0005927", + "UBERON:0002100", + "HP:0006496", + "HP:0011425", "UPHENO:0076779", + "UBERON:0009569", + "UPHENO:0002839", + "HP:0002250", + "UBERON:0000916", + "UBERON:5001463", + "UPHENO:0052778", + "UPHENO:0079872", + "UBERON:0002417", + "UPHENO:0081091", + "UBERON:5006048", + "GO:0048232", + "UPHENO:0081204", + "UBERON:0005881", + "HP:0002242", + "HP:0034057", + "UBERON:0036295", + "HP:0010946", + "HP:0012210", + "HP:0005920", + "GO:0016043", + "HP:0025031", + "GO:0009890", + "HP:0034242", + "UPHENO:0027515", + "GO:0031052", + "UBERON:0013702", + "UBERON:0002101", + "HP:0000078", + "HP:0009599", + "GO:0006325", + "UBERON:0012141", + "UPHENO:0080126", + "HP:0004322", + "GO:0010629", + "HP:0001627", + "UBERON:0005055", + "UBERON:0010741", + "NCBITaxon:33208", + "UPHENO:0075893", + "UBERON:0000323", + "HP:0001626", + "UBERON:0012354", + "UPHENO:0075159", + "UBERON:0034944", + "GO:0010605", + "RO:0002577", + "HP:0000079", + "UBERON:0000062", + "UPHENO:0065599", + "UPHENO:0020584", + "UBERON:0001062", "UPHENO:0084124", + "UBERON:0007100", + "GO:0010558", + "UBERON:8450002", + "HP:0012718", + "UPHENO:0002647", + "UBERON:0005897", + "UPHENO:0075949", + "GO:0043933", + "MPATH:1000", + "GO:0010556", + "HP:0012732", + "UBERON:0011676", + "UPHENO:0002725", + "GO:0050794", + "HP:0012622", + "UBERON:0011216", + "UBERON:0000059", + "UPHENO:0019615", "HP:0008669", - "UPHENO:0001072", - "UPHENO:0002905", - "HP:0000077", - "HP:0010944", + "HP:0000001", + "UPHENO:0076783", + "UPHENO:0075902", + "UBERON:0004122", + "UBERON:0004708", + "UBERON:0000026", + "HP:0003220", + "HP:0011017", + "HP:0001172", + "UPHENO:0001002", + "HP:0034058", + "UPHENO:0001001", + "UPHENO:0050113", + "UPHENO:0050121", + "GO:0050789", + "CL:0000039", + "UBERON:0000075", + "UBERON:0004111", + "UBERON:0010688", + "GO:0008150", + "UBERON:0015061", + "UPHENO:0076692", + "HP:0040012", + "UBERON:0011143", + "UBERON:0013701", + "UPHENO:0049367", + "UBERON:0011250", + "UBERON:0000465", + "UPHENO:0053644", + "HP:0009601", "HP:0010945", - "HP:0011842", - "UPHENO:0075696", - "UPHENO:0081790", - "UPHENO:0077426", - "HP:0002984", - "HP:0002817", - "UPHENO:0065599", - "UPHENO:0026028", - "PATO:0000001", - "UPHENO:0084834", - "UPHENO:0086700", - "UPHENO:0001478", - "UPHENO:0080377", - "HP:0034915", - "UPHENO:0078606", - "HP:0002664", - "HP:0001245", - "HP:0004378", - "UPHENO:0086644", + "BFO:0000004", + "UBERON:0015063", + "HP:0000118", + "UBERON:0005173", + "GO:0009892", "HP:0011314", - "UPHENO:0012274", - "UPHENO:0086682", - "HP:0025033", - "HP:0025031", - "HP:0000811", - "HP:0001510", - "UPHENO:0086201", - "UPHENO:0076803", - "UPHENO:0046505", - "HP:0005773", - "UPHENO:0080114", + "UPHENO:0000543", + "UBERON:0002471", + "UPHENO:0076718", + "GO:0009987", + "UPHENO:0049873", + "HP:0025354", + "UBERON:0000463", + "UPHENO:0001003", + "BFO:0000040", + "UPHENO:0081423", + "UBERON:0010712", + "UPHENO:0001005", + "UBERON:0004489", + "HP:0001939", + "UBERON:0004121", + "HP:0006265", + "UPHENO:0081581", + "GO:0071840", + "HP:0002813", + "HP:0000035", + "GO:0031326", + "UPHENO:0015280", + "HP:0030680", + "UBERON:0006048", "UPHENO:0005433", - "UPHENO:0084132", - "UPHENO:0005651", - "UPHENO:0081313", - "HP:0002242", - "UPHENO:0076710", - "UPHENO:0081091", - "HP:0009815", - "UPHENO:0088186", - "HP:0040072", - "UPHENO:0087510", - "HP:0006501", - "UPHENO:0002751", - "UPHENO:0079872", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0000002", - "UPHENO:0081204", - "HP:0006503", - "HP:0002023", - "HP:0002818", - "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0086956", - "UPHENO:0012541", - "HP:0002973", - "UPHENO:0085874", - "UPHENO:0069294", - "UPHENO:0052778", - "HP:0011927", + "BFO:0000002", + "GO:0008152", "UPHENO:0031839", - "UPHENO:0080187", - "HP:0000812", - "HP:0009826", - "UPHENO:0046538", - "UPHENO:0068971", - "UPHENO:0020041", - "UPHENO:0086198", - "UPHENO:0049701", - "UPHENO:0049970", - "UPHENO:0087846", - "UPHENO:0075949", - "HP:0012874", - "UPHENO:0087006", - "HP:0011961", - "UPHENO:0052178", - "HP:0000025", - "HP:0010461", - "HP:0009380", - "UPHENO:0002378", - "UPHENO:0087973", - "HP:0000035", - "HP:0012622", - "HP:0000078", - "UPHENO:0020950", - "UPHENO:0087802", - "HP:0100871", - "UPHENO:0087427", - "UPHENO:0002332", - "HP:0010946", - "UPHENO:0080382", - "UPHENO:0085873", - "UPHENO:0081755", - "HP:0012243", - "UPHENO:0082875", - "UPHENO:0046707", - "HP:0000080", - "UPHENO:0085194", - "HP:0004097", - "HP:0000126", - "UPHENO:0081792", - "UPHENO:0005597", - "UPHENO:0002598", - "UPHENO:0050101", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0080369", - "UPHENO:0086023", - "HP:0006496", - "HP:0009778", - "HP:0009623", - "UPHENO:0050108", - "HP:0000107", - "HP:0001446", - "UPHENO:0084841", - "HP:0009484", - "UPHENO:0002880", - "UPHENO:0075159", - "UPHENO:0049874", - "HP:0001627", - "UPHENO:0080325", + "GO:0071824", "UPHENO:0002642", - "UPHENO:0081423", - "HP:0034057", - "UPHENO:0081424", + "GO:0005623", + "GO:0009889", + "UPHENO:0076723", + "CL:0000000", + "UBERON:0012151", + "MPATH:0", + "UBERON:0007272", + "BFO:0000001", + "UPHENO:0081466", + "UPHENO:0076703", + "GO:0019222", + "GO:0031324", + "UBERON:0015212", + "HP:0000028", + "GO:0031049", + "HP:0009115", + "GO:0048523", + "UPHENO:0020832", + "UBERON:0010000", + "UBERON:0011584", + "UPHENO:0063565", + "UBERON:0004375", + "HP:0000083", + "GO:0031327", + "UBERON:0000489", + "UBERON:0000468", + "UPHENO:0080079", + "BFO:0000015", + "GO:0060255", + "UBERON:0000061", + "UPHENO:0080187", + "UPHENO:0020651", + "UBERON:0004054", + "HP:0009127", + "UPHENO:0020220", + "UBERON:0012361", + "UBERON:0000915", + "UBERON:0011582", + "UPHENO:0049700", + "UBERON:0000475", ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "Rectal atresia", - "Morphological abnormality of the gastrointestinal tract", - "alimentary part of gastrointestinal system atresia", - "abnormal alimentary part of gastrointestinal system", - "Anorectal anomaly", - "Abnormality of the gastrointestinal tract", + "digestive system element", + "Rectal atresia (HPO)", + "Abnormal large intestine morphology (HPO)", + "abnormal intestine morphology", + "subdivision of tube", + "internal anal region", + "lower digestive tract", + "intestine", + "terminal part of digestive tract", + "large intestine", + "Gastrointestinal atresia (HPO)", + "organism", "rectum atresia", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal rectum", - "Intestinal atresia", - "non-functional kidney", - "abnormality of kidney physiology", - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "Chronic kidney disease", - "Renal insufficiency", - "Small thenar eminence", - "Abnormality of the thenar eminence", - "thenar eminence hypoplasia", - "Abnormality of the musculature of the upper limbs", + "abnormal rectum morphology", + "Eukaryota", + "alimentary part of gastrointestinal system atresia", + "intestine atresia", + "root", + "Renal insufficiency (HPO)", + "Abnormal renal physiology (HPO)", + "abnormal large intestine morphology", + "Abnormality of the urinary system physiology (HPO)", + "Chronic kidney disease (HPO)", + "muscle organ", + "abnormal muscle organ morphology", + "Abnormal rectum morphology (HPO)", "abnormal musculature of upper limb", - "abnormal musculature", - "Abnormality of the musculature of the hand", + "musculature", + "musculature of body", + "external soft tissue zone", "abnormal musculature of limb", - "Abnormality of the musculature of the limbs", - "Abnormal palm morphology", - "Abnormality of the digestive system", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal digit morphology", - "absent anatomical entity", - "decreased length of manual digit", - "abnormal cellular process", - "abnormal palmar part of manus morphology", - "Growth abnormality", - "abnormal skeletal system", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "aplastic anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal manus", - "Abnormality of the musculature", - "abnormal digit", - "abnormal organelle organization", - "Abnormality of limb bone", - "abnormal cardiovascular system morphology", + "musculature of limb", + "pectoral appendage musculature", + "abnormal anatomical entity morphology in the palmar part of manus", + "abnormal musculature", + "palmar part of manus", + "palmar/plantar part of autopod", + "Abnormality of the palm (HPO)", + "abnormal palmar part of manus", + "Abnormal skeletal muscle morphology (HPO)", + "muscle structure", + "Small thenar eminence (HPO)", + "thenar eminence hypoplasia", + "Abnormality of the musculature of the limbs (HPO)", + "Abnormality of the musculature (HPO)", + "abnormal musculature of manus", + "decreased height of the multicellular organism", + "abnormal size of multicellular organism", + "delayed biological_process", + "growth", + "decreased size of the multicellular organism", + "Short stature (HPO)", + "abnormality of anatomical entity height", + "delayed growth", "abnormality of multicellular organism height", + "External genital hypoplasia (HPO)", + "pathological phenotype observation", + "Deviation of finger (HPO)", + "Deviation of the thumb (HPO)", + "Deviation of the hand or of fingers of the hand (HPO)", + "Proximal placement of thumb (HPO)", + "anal region", + "Short finger (HPO)", + "decreased length of digit", + "Short thumb (HPO)", + "decreased length of manual digit 1", + "male organism", + "native cell", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "Abnormality of the genital system (HPO)", + "decreased qualitatively reproductive process", + "decreased qualitatively biological_process", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "gamete generation", + "sexual reproduction", + "Renal cyst (HPO)", + "external male genitalia", + "germ line cell", + "Abnormal testis morphology (HPO)", + "abnormal developmental process", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "reproductive process", + "multicellular organismal process", + "external genitalia", + "abnormal reproductive system morphology", + "abnormality of kidney physiology", + "decreased biological_process", + "abnormal male reproductive organ morphology", + "semen", + "organism substance", + "abnormally localised anatomical entity", + "decreased developmental process", + "abnormal location of anatomical entity", + "Abnormality of the musculature of the upper limbs (HPO)", + "Cryptorchidism (HPO)", + "abnormal internal genitalia", + "reproductive organ", + "abnormality of reproductive system physiology", + "abnormal developmental process involved in reproduction", + "Abnormality of the kidney (HPO)", + "Abnormal external genitalia (HPO)", + "multicellular organismal reproductive process", + "musculoskeletal system", + "abnormally localised anatomical entity in independent continuant", + "absent epiphysis of phalanx of manus in the independent continuant", + "abnormality of anatomical entity physiology", + "manual digit bone", + "decreased spermatogenesis", + "abnormal gamete generation", + "abnormality of internal male genitalia physiology", + "reproductive system", + "abnormal testis morphology", + "anatomical entity hypoplasia", + "decreased size of the anatomical entity in the pectoral complex", + "abnormal radius bone morphology", + "sperm", + "Dilatation of the renal pelvis (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Abnormal forearm bone morphology (HPO)", + "Abnormality of forearm bone (HPO)", + "decreased length of forelimb zeugopod bone", + "Abnormality of the forearm (HPO)", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", + "zeugopod", + "Growth abnormality (HPO)", + "radius bone hypoplasia", + "arm bone", + "radius bone", + "abnormal long bone morphology", + "Aplasia/hypoplasia involving forearm bones (HPO)", "forelimb zeugopod bone hypoplasia", - "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "absent anatomical entity in the forelimb", + "abnormal digestive system morphology", + "decreased length of anatomical entity", + "Abnormal intestine morphology (HPO)", + "tube", + "anus", + "abdomen", + "anus atresia", + "alimentary part of gastrointestinal system", + "digestive system", + "material entity", + "abnormal closing of the anatomical entity", + "anatomical entity atresia", + "abnormal alimentary part of gastrointestinal system morphology", + "Anorectal anomaly (HPO)", + "abnormal anus morphology", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "circulatory system", + "Abnormality of the cardiovascular system (HPO)", + "structure with developmental contribution from neural crest", + "cardiovascular system", + "abnormal cardiovascular system morphology", + "late embryo", + "abnormal external male genitalia", + "digestive tract", + "circulatory organ", + "primary circulatory organ", + "viscus", + "Fetal anomaly (HPO)", + "thoracic segment of trunk", + "abnormal cardiovascular system", + "Abnormality of the musculature of the hand (HPO)", + "skeletal element", + "abnormal DNA metabolic process", + "forelimb", + "abnormal anatomical entity morphology in the skeleton of manus", + "autopodial skeleton", + "decreased size of the anatomical entity in the independent continuant", + "bone of free limb or fin", + "abnormal kidney", + "acropodial skeleton", "abnormal arm", - "aplasia or hypoplasia of anatomical entity", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "agenesis of anatomical entity", - "decreased developmental process", - "Abnormal thumb morphology", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal intestine morphology", - "aplastic manual digit 1", - "decreased qualitatively reproductive process", - "abnormal number of anatomical enitites of type anatomical entity", - "absent gamete", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal limb bone", - "increased size of the anatomical entity", - "bone element hypoplasia in independent continuant", - "Abnormality of the upper limb", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "abnormal bone of pectoral complex morphology", + "Abnormal fetal morphology (HPO)", + "system", + "Abnormal hand morphology (HPO)", + "abnormal thenar eminence", + "trunk region element", + "pectoral complex", + "digit 1 or 5", + "absent manual digit", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "changed developmental process rate", + "manual digitopodium region", + "reproductive structure", + "male reproductive organ", + "manual digit 1 or 5", + "abnormal reproductive system", + "absent epiphysis of phalanx of manus in the phalanx of manus", + "aplasia or hypoplasia of manual digit", + "pectoral appendage skeleton", + "Abnormal morphology of the radius (HPO)", + "abnormal epiphysis morphology in the independent continuant", + "phenotype", "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "anatomical entity hypoplasia", - "abnormal manual digit morphology in the independent continuant", + "subdivision of digestive tract", + "abnormal digestive system", + "abnormal manus", + "absent anatomical entity in the phalanx of manus", + "abnormality of male reproductive system physiology", + "zone of long bone", + "arm", + "long bone", + "anatomical entity hypoplasia in independent continuant", + "bone of appendage girdle complex", + "manual digit 1 plus metapodial segment", + "manual digit", + "skeleton of limb", + "abnormal forelimb zeugopod bone morphology", + "forelimb endochondral element", + "male reproductive system", + "limb bone", + "gonad", + "digit 1 digitopodial skeleton", + "Abnormality of the digestive system (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "decreased length of manual digit", + "Abnormality of the gastrointestinal tract (HPO)", + "epiphysis of phalanx of manus", + "chromatin remodeling", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of the thenar eminence (HPO)", + "abnormal digit", + "Absent epiphyses of the phalanges of the hand (HPO)", + "Abnormality of limbs (HPO)", + "reproduction", + "manus", + "rectum", + "abnormal cellular metabolic process", + "acropodium region", + "digitopodium region", + "Abnormal reproductive system morphology (HPO)", + "endochondral element", + "bone element", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal forelimb zeugopod", + "Abnormality of reproductive system physiology (HPO)", + "abnormal limb bone morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "zone of organ", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", + "abnormal phalanx morphology", "aplasia or hypoplasia of skeleton", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", + "heart", + "upper limb segment", + "decreased size of the anatomical entity", + "cavitated compound organ", + "Abnormal heart morphology (HPO)", + "Abnormality of limb epiphysis morphology (HPO)", + "compound organ", + "autopod region", + "radius endochondral element", + "trunk", + "digit 1 plus metapodial segment", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "renal pelvis", + "anterior region of body", + "absent anatomical entity in the multicellular organism", + "Abnormal appendicular skeleton morphology (HPO)", + "abnormal anus", + "abnormal anatomical entity morphology in the manus", + "mesoderm-derived structure", + "Abnormality of the upper limb (HPO)", + "paired limb/fin skeleton", + "Abnormal skeletal morphology (HPO)", + "abnormal radius bone", + "Abnormal digit morphology (HPO)", + "digit plus metapodial segment", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", + "manual digit 1 digitopodial skeleton", + "manual digit plus metapodial segment", + "Abnormal upper limb bone morphology (HPO)", + "phalanx endochondral element", + "limb skeleton subdivision", + "obsolete cell", + "epiphysis", + "appendage musculature", "abnormally dilated anatomical entity", - "abnormal metabolic process", - "Abnormality of the genital system", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "abnormal spermatogenesis", - "phenotype", + "digit 1", + "forelimb bone", + "male gamete generation", + "zeugopodial skeleton", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "paired limb/fin", + "abnormal phalanx of manus morphology", + "aplastic anatomical entity", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the hand (HPO)", + "abdominal segment element", "absent digit", - "abnormal male reproductive system morphology", - "abnormal cell", - "abnormal limb bone morphology", - "abnormal testis morphology", - "aplasia or hypoplasia of manual digit 1", - "entity", - "Absent thumb", - "abnormal autopod region morphology", - "decreased height of the multicellular organism", - "Short long bone", "abnormal renal pelvis", + "Abnormality of digestive system morphology (HPO)", + "upper urinary tract", + "skeletal system", + "chromatin organization", + "manual digit 1 phalanx", + "abnormal multicellular organismal reproductive process", + "Abnormality of chromosome stability (HPO)", + "manual digit 1 phalanx endochondral element", + "abnormal manus morphology", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "cell", + "phenotype by ontology source", + "forelimb long bone", + "heart plus pericardium", + "skeleton", + "manus bone", + "embryo", + "appendage", + "Abnormality of cardiovascular system morphology (HPO)", "abnormality of renal system physiology", - "quality", - "Abnormal renal pelvis morphology", - "Abnormality of prenatal development or birth", - "decreased length of long bone", - "absent anatomical entity in the multicellular organism", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal anatomical entity morphology in the palmar part of manus", - "absent manual digit", + "organism subdivision", + "programmed DNA elimination by chromosome breakage", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Fetal ultrasound soft marker (HPO)", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "musculature of upper limb", + "anatomical collection", + "skeleton of manual digitopodium", + "internal male genitalia", + "occurrent", + "manual digitopodium bone", + "abnormal skeletal system morphology", + "absent anatomical entity in the independent continuant", + "absent manual digit 1", + "subdivision of organism along appendicular axis", + "thenar eminence", + "pectoral appendage", + "male germ cell", + "lateral structure", + "limb", + "Opisthokonta", + "Abnormality of prenatal development or birth (HPO)", + "abnormal manual digit 1 morphology", + "autopod bone", + "autopod endochondral element", + "phalanx of manus", + "decreased length of anatomical entity in independent continuant", + "endochondral bone", + "absent epiphysis in the independent continuant", + "multi-limb segment region", + "musculature of manus", + "material anatomical entity", + "abnormal epiphysis morphology in the skeleton of manus", + "absent epiphysis", + "Growth delay (HPO)", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "Abnormality of the anus (HPO)", + "abnormal limb bone", + "Intestinal atresia (HPO)", + "Abnormality of the upper urinary tract (HPO)", + "Abnormal thumb morphology (HPO)", + "abnormal cellular component organization", + "appendicular skeletal system", + "abnormal epiphysis of phalanx of manus morphology", + "renal pelvis/ureter", + "increased size of the anatomical entity", + "Hypoplasia of the radius (HPO)", + "musculature of pectoral complex", + "abnormal spermatogenesis", + "germ cell", + "segment of manus", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "developmental process involved in reproduction", + "abnormal multicellular organism morphology", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "negative regulation of gene expression", + "anatomical entity", + "Upper limb undergrowth (HPO)", + "skeleton of pectoral complex", + "skeleton of digitopodium", + "subdivision of trunk", + "abdomen element", + "gamete", + "Abnormal renal pelvis morphology (HPO)", + "organ part", + "aplasia or hypoplasia of manual digit 1", + "skeleton of manus", + "anatomical conduit", + "Absent epiphyses of the thumb (HPO)", + "biological_process", + "protein-containing material entity", + "subdivision of skeleton", + "increased size of the anatomical entity in independent continuant", + "thoracic cavity element", + "Abnormal fetal genitourinary system morphology (HPO)", "abnormal phenotype by ontology source", - "deviation of manual digit", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", + "decreased size of the radius bone", + "multicellular anatomical structure", + "phalanx", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", + "Absent thumb (HPO)", + "abnormal late embryo", + "quality", + "forelimb zeugopod bone", + "regulation of cellular process", + "Hydronephrosis (HPO)", + "internal genitalia", + "anatomical cluster", + "Short long bone (HPO)", + "disconnected anatomical group", + "individual digit of digitopodial skeleton", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "Abnormality of thumb epiphysis (HPO)", + "abnormal kidney morphology", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "Abnormal renal morphology (HPO)", + "body proper", + "subdivision of organism along main body axis", + "orifice", + "Short forearm (HPO)", "changed biological_process rate", - "absent germ cell", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "Upper limb undergrowth", - "Abnormal long bone morphology", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", + "abnormal metabolic process", "abnormal renal pelvis morphology", - "Abnormal fetal morphology", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the urinary system", - "abnormal digestive system morphology", + "negative regulation of biosynthetic process", + "cellular organisms", + "aplasia or hypoplasia of radius bone", + "main body axis", + "paired limb/fin segment", + "regulation of macromolecule metabolic process", "continuant", - "Azoospermia", - "Abnormality of digestive system morphology", - "abnormal limb", - "abnormal muscle organ morphology", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "Abnormal renal morphology", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal biological_process", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal manus morphology", - "All", - "Abnormal upper limb bone morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "intestine atresia", - "Proximal placement of thumb", - "Fetal pyelectasis", - "Abnormal cellular physiology", - "Abnormality of chromosome stability", - "abnormal kidney", - "Neoplasm", - "Anal atresia", - "Cryptorchidism", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "Abnormal finger morphology", - "Aplasia of the fingers", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "abnormal heart morphology", - "abnormal upper urinary tract", - "Fetal ultrasound soft marker", - "abnormal appendicular skeleton morphology", - "abnormal renal system morphology", - "Abnormal large intestine morphology", + "aplastic manual digit 1", + "absent anatomical entity in the skeletal system", + "abnormal rectum", + "Short digit (HPO)", + "abnormal limb long bone morphology", + "decreased length of long bone", + "Abnormal cellular physiology (HPO)", "specifically dependent continuant", + "bone of pectoral complex", + "abnormal upper urinary tract", + "male gamete", + "ectoderm-derived structure", + "Limb undergrowth (HPO)", + "epiphysis of phalanx", + "Abnormality of metabolism/homeostasis (HPO)", + "abnormal digit morphology", + "Phenotypic abnormality", + "cellular component organization or biogenesis", + "bone element hypoplasia in independent continuant", "abnormal anatomical entity morphology", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal genitourinary system", - "abnormal late embryo", + "multi-tissue structure", + "abnormal biological_process", + "negative regulation of macromolecule metabolic process", + "organ system subdivision", + "Phenotypic abnormality (HPO)", + "process", + "absent anatomical entity", + "abnormally dilated renal pelvis", + "organ", + "protein-DNA complex organization", + "abnormal growth", + "Abnormal internal genitalia (HPO)", "increased size of the renal pelvis", - "abnormal closing of the anatomical entity", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal anus", - "Dilatation of the renal pelvis", - "anus atresia", - "Abnormality of the anus", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "appendage girdle complex", + "kidney", + "regulation of cellular biosynthetic process", + "limb endochondral element", + "Abnormal spermatogenesis (HPO)", + "Forearm undergrowth (HPO)", + "regulation of gene expression", + "Stage 5 chronic kidney disease (HPO)", + "absent anatomical entity in the forelimb", + "appendicular skeleton", + "abnormal alimentary part of gastrointestinal system", + "aplasia or hypoplasia of anatomical entity", + "anatomical system", + "All (HPO)", "abnormal external genitalia", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "Hydronephrosis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Limb undergrowth", - "decreased length of anatomical entity in independent continuant", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "abnormal radius bone morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "anatomical entity hypoplasia in independent continuant", + "abnormal heart morphology", + "limb long bone", + "regulation of metabolic process", + "skeleton of manual acropodium", + "excretory system", + "negative regulation of cellular process", + "absent anatomical entity in the limb", + "zone of bone organ", + "forelimb skeleton", + "Abnormality of the musculoskeletal system (HPO)", + "Metazoa", + "multicellular organism reproduction", + "negative regulation of cellular metabolic process", + "entity", + "epigenetic regulation of gene expression", + "abnormal renal system", + "Functional abnormality of male internal genitalia (HPO)", + "multicellular organism", + "manual digit 1", + "cellular process", + "Chromosome breakage (HPO)", + "abnormal size of anatomical entity", + "abnormal limb", + "digit", + "abdominal segment of trunk", + "autopodial extension", + "regulation of biological process", + "abnormal programmed DNA elimination by chromosome breakage", + "metabolic process", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "negative regulation of macromolecule biosynthetic process", "abnormally localised testis", - "Abnormality of male external genitalia", - "absent anatomical entity in the semen", - "abnormal male reproductive organ morphology", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "Abnormal internal genitalia", - "decreased qualitatively developmental process", - "abnormal reproductive process", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "Non-obstructive azoospermia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "Fetal anomaly", - "abnormal external male genitalia", - "abnormal reproductive system", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormality of internal male genitalia physiology", "abnormal male reproductive system", - "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type cell", - "Short digit", - "abnormal manual digit 1 morphology", - "Short thumb", - "Short finger", - "decreased length of digit", - "Deviation of finger", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", - "decreased size of the multicellular organism", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "Short stature", - "abnormal cardiovascular system", - "delayed growth", - "abnormality of anatomical entity height", - "abnormal growth", - "Abnormal rectum morphology", - "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", + "independent continuant", + "forelimb zeugopod skeleton", + "Abnormality of epiphysis morphology (HPO)", + "anatomical structure", + "regulation of biosynthetic process", + "abnormal cellular process", + "renal system", + "Anal atresia (HPO)", + "Fetal pyelectasis (HPO)", + "Abnormality of upper limb epiphysis morphology (HPO)", + "Abnormal cellular phenotype (HPO)", + "Abnormality of limb bone morphology (HPO)", + "negative regulation of metabolic process", + "thoracic segment organ", + "protein-containing complex organization", + "cellular component organization", + "testis", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "negative regulation of biological process", + "agenesis of anatomical entity", ], "has_phenotype_count": 15, "highlight": None, @@ -8756,865 +13527,1447 @@ def autocomplete(): "has_phenotype": [ "HP:0009777", "HP:0000957", - "HP:0002860", "HP:0000252", + "HP:0002984", "HP:0000581", "HP:0001510", - "HP:0002984", - "HP:0004322", + "HP:0001876", "HP:0000347", - "HP:0000028", "HP:0009778", - "HP:0000125", "HP:0000414", + "HP:0001903", "HP:0012745", "HP:0000085", + "HP:0003221", + "HP:0004322", "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0002860", "HP:0001045", - "HP:0001876", - "HP:0001903", - "HP:0003221", ], "has_phenotype_label": [ - "Absent thumb", - "Cafe-au-lait spot", - "Squamous cell carcinoma", - "Microcephaly", - "Blepharophimosis", - "Growth delay", - "Hypoplasia of the radius", - "Short stature", - "Micrognathia", - "Cryptorchidism", - "Short thumb", - "Pelvic kidney", - "Bulbous nose", - "Short palpebral fissure", - "Horseshoe kidney", - "Hearing impairment", - "Vitiligo", - "Pancytopenia", - "Anemia", - "Chromosomal breakage induced by crosslinking agents", + "Absent thumb (HPO)", + "Cafe-au-lait spot (HPO)", + "Microcephaly (HPO)", + "Hypoplasia of the radius (HPO)", + "Blepharophimosis (HPO)", + "Growth delay (HPO)", + "Pancytopenia (HPO)", + "Micrognathia (HPO)", + "Short thumb (HPO)", + "Bulbous nose (HPO)", + "Anemia (HPO)", + "Short palpebral fissure (HPO)", + "Horseshoe kidney (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Short stature (HPO)", + "Hearing impairment (HPO)", + "Cryptorchidism (HPO)", + "Pelvic kidney (HPO)", + "Squamous cell carcinoma (HPO)", + "Vitiligo (HPO)", ], "has_phenotype_closure": [ - "UPHENO:0050116", - "HP:0001939", - "HP:0011017", - "UPHENO:0050021", - "UPHENO:0049990", - "HP:0003220", - "UPHENO:0049748", - "UPHENO:0050113", - "HP:0003221", - "HP:0012130", - "HP:0001877", - "HP:0001903", - "HP:0012145", - "UPHENO:0086049", - "HP:0001871", - "HP:0001872", - "UPHENO:0084928", - "UPHENO:0085195", - "UPHENO:0085302", - "HP:0032251", - "UPHENO:0087339", - "HP:0011893", - "UPHENO:0084987", - "HP:0002715", - "UPHENO:0085984", - "UPHENO:0076675", - "UPHENO:0002948", - "UPHENO:0085371", - "UPHENO:0049873", - "HP:0005561", - "HP:0011873", - "UPHENO:0087355", - "UPHENO:0086173", - "UPHENO:0085070", - "HP:0020047", - "HP:0000598", - "UPHENO:0052231", - "HP:0011875", - "UPHENO:0002903", - "UPHENO:0005518", - "UPHENO:0050620", - "HP:0000365", - "UPHENO:0052970", - "UPHENO:0082129", - "HP:0010987", - "UPHENO:0076941", - "HP:0000085", - "UPHENO:0088168", - "UPHENO:0087430", - "UPHENO:0065599", - "UPHENO:0084715", - "HP:0000436", - "HP:0000414", - "HP:0100542", - "UPHENO:0085344", - "UPHENO:0076779", - "HP:0000079", - "UPHENO:0063722", - "UPHENO:0053588", - "UPHENO:0001072", - "HP:0000086", - "HP:0012210", - "HP:0001881", - "UPHENO:0075902", - "UPHENO:0046624", - "HP:0009381", - "HP:0000812", + "HP:0001045", + "HP:0002664", + "UBERON:0005156", + "GO:0003006", + "GO:0048609", + "GO:0000003", + "HP:0012243", "UPHENO:0053580", - "UPHENO:0005651", - "UPHENO:0002598", - "UPHENO:0041226", - "UPHENO:0086023", - "UPHENO:0078729", - "UPHENO:0049985", "UPHENO:0050101", - "HP:0010935", - "UPHENO:0049940", - "HP:0011927", - "UPHENO:0052778", + "HP:0000811", + "UBERON:0003135", + "UBERON:0003101", "UPHENO:0002597", - "UPHENO:0085194", - "UPHENO:0003055", - "UPHENO:0077426", - "HP:0000080", + "UPHENO:0050108", + "UPHENO:0002371", + "UBERON:0003133", + "UPHENO:0049985", + "UPHENO:0002599", + "CL:0000015", + "GO:0032502", + "GO:0022414", + "HP:0000025", + "HP:0000022", + "UBERON:0000990", + "GO:0007283", + "UBERON:0004053", + "UBERON:0004054", + "UPHENO:0049970", + "UBERON:0000473", + "CL:0000413", + "UPHENO:0081755", + "UBERON:0000079", + "CL:0000039", + "UPHENO:0078729", + "UPHENO:0021561", + "GO:0003008", + "GO:0007605", + "CL:0000586", + "HP:0000598", + "UPHENO:0002240", "HP:0012874", + "GO:0007600", + "GO:0050877", "UPHENO:0082875", - "UPHENO:0053644", - "HP:0012243", - "UPHENO:0081755", + "UPHENO:0052970", + "GO:0032504", + "UPHENO:0052231", + "HP:0031704", + "UPHENO:0005518", + "UBERON:0001690", + "UBERON:0002105", + "UPHENO:0080351", + "GO:0031049", + "GO:0050789", + "GO:0071840", + "UPHENO:0049873", + "HP:0010461", + "GO:0010468", + "GO:0010558", + "HP:0001939", + "UPHENO:0049700", + "GO:0060255", + "GO:0009892", + "GO:0043933", + "GO:0008152", + "GO:0009987", + "UPHENO:0050113", + "UPHENO:0050121", + "GO:0010556", + "HP:0000035", + "GO:0031326", + "GO:0031324", + "GO:0019222", + "GO:0040029", + "HP:0004322", + "GO:0010629", + "GO:0006338", + "UPHENO:0002803", + "UBERON:0002100", + "UBERON:0002417", + "UPHENO:0002832", + "HP:0000365", + "HP:0012210", + "UPHENO:0002595", + "UPHENO:0041821", + "UPHENO:0080300", + "UBERON:0009569", + "HP:0100542", + "UPHENO:0082129", + "UPHENO:0019487", + "UPHENO:0082444", + "UPHENO:0050620", + "UBERON:0004122", + "UBERON:8450002", + "UPHENO:0075902", "UPHENO:0041629", - "UPHENO:0080382", - "UPHENO:0087427", - "UPHENO:0002332", + "UPHENO:0041075", + "UPHENO:0076779", + "HP:0001903", + 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"UPHENO:0046707", + "UBERON:0001555", + "UPHENO:0026506", + "UPHENO:0002635", + "UPHENO:0076723", + "UBERON:0002268", + "UBERON:0005897", + "UBERON:5102389", + "UBERON:0003620", + "UBERON:0002101", + "UPHENO:0054567", + "BFO:0000040", + "UPHENO:0080099", + "CL:0000233", + "HP:0000028", + "UBERON:0015212", + "UPHENO:0002903", + "UPHENO:0002332", + "UPHENO:0076727", + "UBERON:0001442", + "UBERON:0010740", + "UBERON:0003462", + "UBERON:0001423", + "UBERON:0000153", + "UBERON:0002513", + "UBERON:0007811", + "UPHENO:0080187", + "UPHENO:0020651", + "HP:0002692", + "HP:0000001", + "UBERON:0000475", + "UPHENO:0001001", + "UBERON:0010741", + "UBERON:0005055", + "BFO:0000020", + "HP:0000085", + "UBERON:0019221", + "UPHENO:0034770", + "UBERON:0012150", + "UBERON:0012354", + "UPHENO:0075159", + "UBERON:0034944", + "UBERON:0010313", + "HP:0040064", + "HP:0009115", + "UBERON:0004175", + "UPHENO:0074584", + "UBERON:0010000", + "UPHENO:0018390", + "UBERON:0010708", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0001460", + "UPHENO:0075195", + "GO:0048232", + "UPHENO:0081204", + "HP:0012130", + "UBERON:0005881", + "HP:0000492", + "UPHENO:0081466", + "UPHENO:0076703", + "HP:0000032", + "UBERON:0004288", + "UBERON:0000467", "UPHENO:0002880", - "UPHENO:0075159", - "UPHENO:0002642", - "UPHENO:0080325", - "UPHENO:0081423", - "UPHENO:0002833", - "HP:0004322", - "HP:0031816", - "UPHENO:0076800", - "UPHENO:0081141", - "HP:0000951", - "UPHENO:0084457", + "HP:0011314", + "UPHENO:0002844", + "UPHENO:0053644", + "HP:0009601", + "HP:0000364", + "UPHENO:0020832", + "UBERON:0002091", + "UBERON:0003460", + "UBERON:0004742", + "UBERON:0004387", + "NCBITaxon:131567", + "UBERON:0000479", + "UPHENO:0027575", + "UBERON:0011159", + "UBERON:0011216", + "UBERON:0008962", + "UPHENO:0003085", + "CL:0000988", + "HP:0001167", + "UPHENO:0002905", + "UPHENO:0049990", + "UPHENO:0084446", + "HP:0002817", + "UBERON:0034925", + "CL:0000255", + "HP:0000002", + "HP:0011842", + "UPHENO:0015280", "HP:0000581", - "UPHENO:0002828", - "UPHENO:0080351", - "HP:0009122", - "UPHENO:0080087", - "UPHENO:0069249", - "HP:0000492", - "UPHENO:0086595", - "UPHENO:0050121", - "UPHENO:0074572", - "HP:0002692", - "HP:0000347", - "HP:0025031", - "HP:0000811", - "UPHENO:0076803", - "HP:0000035", - "UPHENO:0087973", - "HP:0000028", - "UPHENO:0049701", - "UPHENO:0085144", - "UPHENO:0041075", - "UPHENO:0050108", - "UPHENO:0049970", - "UPHENO:0087846", - "UPHENO:0087006", - "HP:0011961", - "UPHENO:0002240", + "HP:0000252", + "UBERON:0012141", + "UPHENO:0080126", + "UPHENO:0001002", + "UPHENO:0078606", + "UPHENO:0002896", + "BFO:0000015", + "UPHENO:0080079", + "UBERON:5001463", "UPHENO:0052178", - "HP:0000025", + "NCBITaxon:2759", + "UPHENO:0050625", + "UPHENO:0074589", + "UBERON:0000468", ], "has_phenotype_closure_label": [ - "abnormal cellular process", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "abnormal erythrocyte morphology", - "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal hematopoietic system", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "Abnormal leukocyte count", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "Pancytopenia", - "abnormal platelet", - "Anemia", - "abnormal bone marrow cell", - "Vitiligo", - "Abnormal platelet count", + "Neoplasm of the skin (HPO)", + "Ectopic kidney (HPO)", + "male organism", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "Abnormality of the genital system (HPO)", + "decreased qualitatively reproductive process", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "external male genitalia", + "Abnormal testis morphology (HPO)", + "abnormal developmental process", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "external genitalia", + "internal genitalia", + "abnormal reproductive system morphology", + "semen", + "decreased developmental process", + "abnormal external genitalia", + "abnormal location of anatomical entity", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal developmental process involved in reproduction", + "abnormally localised testis", + "changed developmental process rate", + "abnormal male reproductive system", + "abnormal gamete generation", + "abnormality of internal male genitalia physiology", + "decreased qualitatively biological_process", + "reproductive system", + "abnormal testis morphology", "abnormal sensory perception of sound", - "Hearing impairment", - "Hearing abnormality", - "Abnormality of the ear", - "Abnormal myeloid cell morphology", - "Abnormal ear physiology", + "Abnormal ear physiology (HPO)", + "sensory perception of mechanical stimulus", + "multicellular organismal process", "abnormality of ear physiology", + "decreased sensory perception of sound", + "Hearing impairment (HPO)", + "ear", + "system process", + "abnormal size of multicellular organism", + "decreased size of the multicellular organism", + "abnormality of anatomical entity height", + "Vitiligo (HPO)", + "abnormality of multicellular organism height", + "Abnormal cellular physiology (HPO)", + "Abnormality of metabolism/homeostasis (HPO)", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "regulation of cellular process", + "negative regulation of biological process", + "abnormally localised kidney", + "epigenetic regulation of gene expression", + "negative regulation of gene expression", + "metabolic process", + "cellular process", + "abnormal programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "protein-containing complex organization", + "cellular component organization", + "regulation of biological process", + "Abnormal external genitalia (HPO)", + "Abnormality of the kidney (HPO)", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "renal system", + "excretory system", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "concave 3-D shape anatomical entity", "shape anatomical entity in independent continuant", - "U-shaped kidney", - "3-D shape anatomical entity", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", + "cavitated compound organ", + "abnormal ear", + "abdominal segment element", "shape kidney", - "3-D shape anatomical entity in independent continuant", - "U-shaped anatomical entity", - "concave 3-D shape anatomical entity", - "shape anatomical entity", - "increased size of the anatomical entity in independent continuant", - "Abnormal external nose morphology", - "abnormally increased volume of anatomical entity", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "Bulbous nose", - "Abnormality of the nose", - "Abnormality of the urinary system", - "abnormally localised kidney", - "Abnormality of the kidney", - "abnormal renal system morphology", + "abdomen", + "abnormal kidney morphology", "abnormal upper urinary tract", - "Ectopic kidney", + "kidney", "abnormal renal system", - "Abnormal cellular physiology", - "Pelvic kidney", + "Abnormality of the nose (HPO)", + "increased size of the anatomical entity", + "negative regulation of macromolecule metabolic process", + "abnormally increased volume of nose", + "Abnormal nasal morphology (HPO)", + "abnormal multicellular organismal reproductive process", + "Abnormality of chromosome stability (HPO)", + "anatomical point", + "external soft tissue zone", + "Abnormality of the nasal tip (HPO)", + "abnormal cellular process", + "olfactory organ", + "abnormal nose tip", + "abnormally increased volume of anatomical entity", + "Bulbous nose (HPO)", + "nose", + "Squamous cell carcinoma (HPO)", + "decreased length of manual digit", "decreased length of digit", - "Short finger", + "Short thumb (HPO)", + "Abnormality of the external nose (HPO)", "decreased length of manual digit 1", - "Short digit", - "decreased length of manual digit", - "Abnormal immune system morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "abnormal genitourinary system", - "decreased developmental process", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormal developmental process involved in reproduction", - "Abnormal external genitalia", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "abnormally localised anatomical entity", - "abnormal multicellular organismal reproductive process", - "Abnormal male reproductive system physiology", - "abnormal cell", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal male reproductive system", - "abnormality of internal male genitalia physiology", - "abnormal spermatogenesis", - "Abnormal testis morphology", - "Cryptorchidism", - "Abnormal skull morphology", - "Abnormality of brain morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplasia or hypoplasia of telencephalon", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", - "abnormal nervous system", - "Neoplasm", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormality of thrombocytes", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Decreased head circumference", - "delayed growth", - "Aplasia/Hypoplasia of the cerebrum", - "Neoplasm of the skin", - "Squamous cell carcinoma", - "abnormal biological_process in independent continuant", - "Abnormality of the nervous system", - "Abnormality of skin pigmentation", + "tube", + "digestive system element", + "Abnormality of the digestive system (HPO)", + "dermal bone", + "jaw skeleton", + "facial bone", + "Chromosome breakage (HPO)", + "aplasia or hypoplasia of skull", + "subdivision of tube", + "digestive system", + "Neoplasm (HPO)", + "Pelvic kidney (HPO)", + "anatomical entity hypoplasia in face", + "mouth", + "bone of lower jaw", + "primary subdivision of skull", + "abnormal external male genitalia", + "digestive tract", + "head bone", + "bone element hypoplasia in face", + "abnormal digestive system", + "subdivision of digestive tract", + "immaterial entity", + "dermal skeleton", + "Aplasia/Hypoplasia of facial bones (HPO)", + "abnormal sensory perception", + "Hypoplastic facial bones (HPO)", + "Abnormality of the mouth (HPO)", + "reproductive organ", + "Abnormal oral morphology (HPO)", + "jaw region", + "neural crest-derived structure", + "dentary", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "facial bone hypoplasia", + "Abnormality of digestive system morphology (HPO)", + "abnormal mouth morphology", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "aplasia or hypoplasia of mandible", + "decreased qualitatively sensory perception of mechanical stimulus", + "native cell", + "hemolymphoid system", + "Abnormality of blood and blood-forming tissues (HPO)", + "Pancytopenia (HPO)", + "sexual reproduction", + "anucleate cell", + "abnormal male reproductive organ morphology", + "bone marrow", + "secretory cell", + "nucleate cell", + "oxygen accumulating cell", + "Cryptorchidism (HPO)", + "Abnormal immune system morphology (HPO)", + "Short finger (HPO)", + "eukaryotic cell", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Abnormal leukocyte morphology (HPO)", + "erythroid lineage cell", + "blood cell", + "hematopoietic cell", + "abnormal hematopoietic system", + "Hearing abnormality (HPO)", + "platelet", + "biogenic amine secreting cell", + "Abnormality of reproductive system physiology (HPO)", + "abnormal limb bone morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Abnormality of the orbital region (HPO)", + "erythrocyte", + "leukocyte", + "abnormal immune system", + "decreased biological_process", + "serotonin secreting cell", + "growth", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "Growth delay (HPO)", + "radius bone hypoplasia", + "Growth abnormality (HPO)", + "abnormal orbital region", + "bone marrow cell", + "orifice", + "Abnormal ocular adnexa morphology (HPO)", + "decreased length of palpebral fissure", + "entire sense organ system", + "abnormal shape of continuant", + "Abnormality of the ocular adnexa (HPO)", + "Abnormality of the nervous system (HPO)", "abnormal ocular adnexa morphology", - "Abnormal axial skeleton morphology", + "visual system", + "orbital region", + "Short palpebral fissure (HPO)", + "paired limb/fin segment", + "Abnormal size of the palpebral fissures (HPO)", + "Abnormality of epiphysis morphology (HPO)", + "subdivision of head", + "Short stature (HPO)", + "camera-type eye", + "aplastic anatomical entity", + "abnormal face", + "eyelid", + "Blepharophimosis (HPO)", + "Abnormality of the upper urinary tract (HPO)", + "bone of craniocervical region", + "abnormal eyelid morphology", "decreased size of the anatomical entity in the pectoral complex", - "Abnormal facial skeleton morphology", - "Abnormal skeletal morphology", - "abnormal biological_process", - "abnormal integument", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "abnormal myeloid cell morphology", - "increased biological_process", + "skeleton of lower jaw", + "abnormal radius bone morphology", + "sperm", + "Aplasia/Hypoplasia of the radius (HPO)", + "Abnormality of forearm bone (HPO)", + "decreased length of forelimb zeugopod bone", + "Abnormality of the immune system (HPO)", + "Narrow palpebral fissure (HPO)", + "postcranial axial skeleton", + "Abnormality of the forearm (HPO)", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "Decreased head circumference (HPO)", + "abnormal forelimb zeugopod bone", + "quality", + "forelimb zeugopod bone", + "Abnormal spermatogenesis (HPO)", + "Forearm undergrowth (HPO)", + "arm bone", + "radius bone", + "disconnected anatomical group", + "Short long bone (HPO)", + "decreased length of long bone", + "Short forearm (HPO)", + "abnormal long bone morphology", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "forelimb zeugopod bone hypoplasia", + "sensory perception", "abnormal digestive system morphology", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "decreased width of the anatomical entity in independent continuant", - "Cafe-au-lait spot", - "Macule", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "Hyperpigmentation of the skin", - "abnormality of multicellular organism height", - "abnormal digit morphology", - "Abnormal forebrain morphology", + "decreased length of anatomical entity", + "zeugopod", + "abnormal anatomical entity morphology in the brain", + "manual digit 1 plus metapodial segment", + "telencephalon", + "Opisthokonta", "absent anatomical entity", - "abnormal forebrain morphology", - "Abnormality of the genitourinary system", - "Abnormality of the head", - "continuant", - "abnormal craniocervical region morphology", - "abnormal appendicular skeleton morphology", - "abnormal skull morphology", - "Aplasia/Hypoplasia of fingers", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormally decreased number of myeloid cell", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "aplasia or hypoplasia of manual digit", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "Abnormality of the skin", - "agenesis of anatomical entity", - "increased qualitatively biological_process", - "All", - "Abnormal upper limb bone morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "Aplasia/Hypoplasia of the thumb", - "abnormal blood cell", - "decreased length of palpebral fissure", - "abnormal face morphology", - "Limb undergrowth", - "Abnormal size of the palpebral fissures", - "Short palpebral fissure", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal craniocervical region", - "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "abnormally localised testis", - "anatomical entity hypoplasia in face", - "abnormal digit", - "Abnormal appendicular skeleton morphology", - "abnormal external nose morphology", - "Abnormality of body height", - "increased pigmentation", - "abnormal anatomical entity morphology in the appendage girdle complex", - "aplasia or hypoplasia of mandible", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "Aplasia/Hypoplasia of facial bones", - "Abnormality of the hand", - "absent digit", - "Abnormal cell morphology", - "phenotype", - "abnormal male reproductive system morphology", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal manual digit morphology in the independent continuant", - "abnormal limb", - "Abnormality of digestive system morphology", - "abnormal pigmentation", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", + "central nervous system", + "multi organ part structure", + "structure with developmental contribution from neural crest", + "abnormal telencephalon morphology", + "abnormal brain morphology", + "aplasia or hypoplasia of telencephalon", + "abnormal phalanx morphology", + "myeloid cell", + "cellular organisms", + "main body axis", + "aplasia or hypoplasia of radius bone", + "Azoospermia (HPO)", + "cranial skeletal system", + "delayed growth", + "organism", + "membrane bone", + "Abnormal nervous system morphology (HPO)", + "Abnormality of skull size (HPO)", + "vestibulo-auditory system", + "forelimb endochondral element", + "abnormal forelimb zeugopod bone morphology", + "nervous system process", + "Abnormal renal morphology (HPO)", + "body proper", + "Abnormal axial skeleton morphology (HPO)", + "abnormal size of anatomical entity", + "germ line cell", + "bone cell", + "shape anatomical entity", + "regional part of nervous system", + "digit 1", + "abnormal head", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "Hyperpigmentation of the skin (HPO)", + "head", + "multicellular organism reproduction", + "Metazoa", + "axial skeleton plus cranial skeleton", + "skeleton of manual digitopodium", + "axial skeletal system", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "Abnormal skull morphology (HPO)", + "anatomical entity hypoplasia", "decreased height of the multicellular organism", - "Short long bone", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "Short thumb", - "abnormal manual digit 1 morphology", - "mandible hypoplasia", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "subdivision of organism along main body axis", + "forebrain", + "Eukaryota", + "upper limb segment", + "Morphological central nervous system abnormality (HPO)", + "root", + "increased biological_process", + "abnormal central nervous system morphology", + "absent anatomical entity in the skeletal system", + "decreased width of the anatomical entity", + "changed biological_process rate in independent continuant", + "Abnormality of the palpebral fissures (HPO)", + "increased qualitatively biological_process in independent continuant", + "abnormally localised anatomical entity", + "non-connected functional system", + "Abnormal forearm bone morphology (HPO)", + "abnormal biological_process", + "multi-tissue structure", + "skin of body", + "Abnormality of the ear (HPO)", + "increased size of the anatomical entity in independent continuant", + "subdivision of skeleton", + "protein-containing material entity", + "biological_process", + "Neoplasm by anatomical site (HPO)", + "phalanx", + "Abnormality of head or neck (HPO)", + "reproductive process", + "abnormal pigmentation", + "pigmentation", + "abnormal size of palpebral fissure", + "Macule (HPO)", + "Abnormal internal genitalia (HPO)", + "abnormal growth", + "increased biological_process in skin of body", + "abnormal skin of body morphology", + "multicellular organismal reproductive process", + "Abnormal cell morphology (HPO)", + "Abnormality of the integument (HPO)", + "integumental system", + "abnormal pigmentation in independent continuant", "phenotype by ontology source", - "abnormally decreased number of hematopoietic cell", - "Abnormal thumb morphology", - "abnormal arm", - "abnormal number of anatomical enitites of type myeloid cell", + "cell", + "tissue", + "Abnormality of skin pigmentation (HPO)", + "increased qualitatively biological_process", + "abnormal metabolic process", + "changed biological_process rate", + "Irregular hyperpigmentation (HPO)", + "abnormal size of skull", + "Cafe-au-lait spot (HPO)", + "abnormal skull morphology", + "external nose", + "Localized skin lesion (HPO)", "absent anatomical entity in the forelimb", - "Horseshoe kidney", + "palpebral fissure", + "abnormal skin of body", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "process", + "abnormal integument", + "nose tip", + "skeletal element", + "abnormal kidney", + "Abnormal erythroid lineage cell morphology (HPO)", + "acropodial skeleton", + "abnormal internal genitalia", + "somatic cell", + "individual digit of digitopodial skeleton", + "anatomical entity", + "Upper limb undergrowth (HPO)", + "abnormal mouth", + "phalanx of manus", + "autopod bone", + "decreased length of anatomical entity in independent continuant", + "autopod endochondral element", + "skeleton of pectoral complex", + "skeleton of digitopodium", + "Abnormal facial skeleton morphology (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "Aplasia/Hypoplasia of the thumb (HPO)", "abnormality of reproductive system physiology", - "absent sperm", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "aplastic manual digit 1", - "decreased qualitatively sensory perception of sound", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormally decreased number of cell", - "abnormal palpebral fissure", - "anatomical entity hypoplasia", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "increased size of the anatomical entity", - "Abnormal nervous system morphology", - "abnormal limb bone", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "absent gamete", - "abnormal head morphology", + "regional part of brain", + "animal cell", + "decreased size of the anatomical entity", + "abnormally localised anatomical entity in independent continuant", + "musculoskeletal system", + "compound organ", + "autopod region", + "Abnormality of limb epiphysis morphology (HPO)", + "absent digit", + "Abnormality of the hand (HPO)", + "eye", + "Microcephaly (HPO)", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "gamete generation", + "Abnormality of skin morphology (HPO)", + "abnormal nose morphology", + "zone of bone organ", "absent anatomical entity in the limb", - "Abnormal mandible morphology", - "Abnormal digit morphology", - "abnormal anatomical entity morphology in the brain", - "Abnormality of limb bone", - "Abnormal spermatogenesis", - "Localized skin lesion", - "Abnormal hand morphology", - "quality", - "aplastic anatomical entity", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", + "trunk region element", + "pectoral complex", + "programmed DNA elimination by chromosome breakage", + "organism subdivision", + "Hypoplasia of the radius (HPO)", + "abnormal spermatogenesis", + "germ cell", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "segment of manus", "abnormal anatomical entity morphology in the independent continuant", + "anatomical conduit", + "mandible hypoplasia", + "skeleton of manus", + "aplasia or hypoplasia of manual digit 1", "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal sensory perception", - "abnormal manus", - "abnormal limb bone morphology", - "abnormal testis morphology", + "All (HPO)", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", + "zone of organ", + "lower jaw region", + "limb endochondral element", + "absent epiphysis of phalanx of manus in the phalanx of manus", "entity", - "aplasia or hypoplasia of manual digit 1", - "abnormal reproductive system", - "Abnormality of head or neck", - "abnormal limb morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "abnormal immune system morphology", - "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "increased qualitatively biological_process in independent continuant", - "Aplasia of the fingers", - "Abnormal finger morphology", - "Morphological central nervous system abnormality", + "aplasia or hypoplasia of manual digit", + "gamete", + "organ part", + "abnormal manus", + "brain", + "Abnormality of thumb epiphysis (HPO)", + "Short digit (HPO)", + "abnormal limb long bone morphology", + "regulation of macromolecule metabolic process", + "Abnormal mandible morphology (HPO)", + "continuant", + "aplastic manual digit 1", + "abnormal multicellular organism morphology", + "developmental process involved in reproduction", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "male germ cell", + "limb", + "lateral structure", + "arm", + "absent epiphysis in the independent continuant", + "endochondral bone", + "protein-DNA complex organization", + "organ", + "Aplasia of the fingers (HPO)", + "subdivision of skeletal system", + "sense organ", + "Horseshoe kidney (HPO)", + "abnormal postcranial axial skeleton morphology", + "manual digit", "abnormal facial skeleton morphology", - "Abnormal cellular immune system morphology", - "abnormal brain morphology", - "abnormal head", - "Abnormality of skull size", - "Abnormal localization of kidney", - "Growth abnormality", - "abnormal orbital region", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal size of palpebral fissure", - "Abnormality of the palpebral fissures", - "abnormal ocular adnexa", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "absent sperm in the semen", - "decreased length of anatomical entity", + "nervous system", + "intramembranous bone", + "skeleton of limb", + "gonad", + "digit 1 digitopodial skeleton", + "Abnormal morphology of the radius (HPO)", + "pectoral appendage skeleton", + "increased biological_process in independent continuant", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "epiphysis of phalanx of manus", + "anatomical entity hypoplasia in independent continuant", + "Thrombocytopenia (HPO)", + "Abnormality of forebrain morphology (HPO)", + "bone of appendage girdle complex", + "manual digit 1", + "increased pigmentation in skin of body", + "material entity", + "abnormal digit", + "Abnormal cerebral morphology (HPO)", + "Abnormal platelet morphology (HPO)", + "primary subdivision of cranial skeletal system", + "forelimb long bone", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "abnormal manus morphology", + "bone of jaw", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", + "male reproductive system", + "limb bone", "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal kidney morphology", - "decreased spermatogenesis", + "acropodium region", + "specifically dependent continuant", + "internal male genitalia", + "occurrent", + "manual digitopodium bone", + "abnormal skeletal system morphology", + "digitopodium region", "decreased width of the palpebral fissure", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "decreased length of anatomical entity in independent continuant", - "abnormal bone marrow cell morphology", - "Blepharophimosis", - "Abnormality of the upper urinary tract", - "decreased width of the anatomical entity", - "abnormal face", - "abnormal radius bone morphology", - "Narrow palpebral fissure", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "aplasia or hypoplasia of skull", - "Abnormal eyelid morphology", - "Short forearm", - "delayed biological_process", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "Growth delay", + "Abnormality of limb bone morphology (HPO)", + "abnormal radius bone", + "digit plus metapodial segment", + "Abnormal digit morphology (HPO)", + "multi-limb segment region", + "absent manual digit", + "digit 1 or 5", + "Abnormal reproductive system morphology (HPO)", + "immaterial anatomical entity", + "endochondral element", + "decreased width of the anatomical entity in independent continuant", + "abnormal anatomical entity morphology in the skeleton of manus", + "autopodial skeleton", + "abnormal nervous system morphology", + "bone element", + "abdomen element", + "subdivision of trunk", + "Hypermelanotic macule (HPO)", + "abnormal anatomical entity morphology in the pectoral complex", + "dermal skeletal element", + "abnormal forelimb zeugopod", + "Abnormal myeloid cell morphology (HPO)", + "appendage girdle complex", "abnormal anatomical entity topology in independent continuant", - "abnormal leukocyte morphology", - "abnormal growth", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormal cellular phenotype", + "limb segment", "decreased size of the radius bone", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "Upper limb undergrowth", - "Abnormal long bone morphology", - "decreased length of long bone", - "abnormal limb long bone morphology", - "Aplasia/Hypoplasia of the radius", - "abnormal digestive system", - "radius bone hypoplasia", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "anatomical entity hypoplasia in independent continuant", - "decreased size of the multicellular organism", - "abnormal size of multicellular organism", - "Abnormality of the face", - "decreased height of the anatomical entity", - "abnormality of anatomical entity height", - "Abnormality of the digestive system", - "abnormal mouth morphology", - "bone element hypoplasia in face", - "abnormal jaw skeleton morphology", - "Abnormality of reproductive system physiology", - "Aplasia/Hypoplasia involving bones of the skull", + "facial skeleton", + "skull", + "multicellular anatomical structure", + "male gamete", + "ectoderm-derived structure", + "Limb undergrowth (HPO)", + "epiphysis of phalanx", + "decreased spermatogenesis", + "manual digit bone", + "abdominal segment of trunk", + "digit", + "Abnormality of the head (HPO)", + "mandible", + "increased pigmentation", + "abnormal bone of pectoral complex morphology", + "simple eye", + "forelimb bone", + "obsolete cell", + "Abnormal erythrocyte morphology (HPO)", + "epiphysis", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "chromatin organization", + "manual digit 1 phalanx", + "sensory system", + "U-shaped anatomical entity", + "manual digit 1 phalanx endochondral element", + "upper urinary tract", + "skeletal system", + "bone of pectoral complex", + "abnormality of anatomical entity physiology", + "absent epiphysis of phalanx of manus in the independent continuant", + "reproductive structure", + "male reproductive organ", + "abnormal reproductive system", + "manual digit 1 or 5", + "radius endochondral element", + "trunk", + "digit 1 plus metapodial segment", "abnormal head bone morphology", - "Abnormal jaw morphology", - "abnormal size of skull", - "Abnormality of the mouth", - "absent sperm in the independent continuant", + "forelimb skeleton", + "Abnormality of the musculoskeletal system (HPO)", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "manual digitopodium region", + "abnormal nose", + "long bone", + "anterior region of body", + "absent anatomical entity in the multicellular organism", + "male gamete generation", + "zeugopodial skeleton", + "motile cell", "abnormal anatomical entity", - "Abnormal forearm morphology", - "decreased size of the mandible", - "abnormally increased volume of nose", - "increased biological_process in skin of body", - "changed biological_process rate", - "absent germ cell", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "Short stature", - "Hypoplastic facial bones", - "abnormal mandible morphology", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Micrognathia", - "Abnormality of male external genitalia", - "abnormal male reproductive organ morphology", - "abnormality of anatomical entity physiology", - "changed developmental process rate", - "abnormally localised anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal reproductive process", - "Non-obstructive azoospermia", + "paired limb/fin", + "Abnormality of limb bone (HPO)", + "cellular component organization or biogenesis", + "abnormal digit morphology", "Phenotypic abnormality", - "abnormal reproductive system morphology", - "abnormal external male genitalia", + "delayed biological_process", + "abnormal anatomical entity morphology in the manus", + "Abnormality of thrombocytes (HPO)", + "Abnormality of the skin (HPO)", + "reproduction", + "Aplasia/Hypoplasia of the mandible (HPO)", + "Abnormality of limbs (HPO)", + "absent manual digit 1", + "subdivision of organism along appendicular axis", + "absent anatomical entity in the independent continuant", + "Abnormal skeletal morphology (HPO)", + "abnormal limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "phenotype", + "absent anatomical entity in the phalanx of manus", + "Abnormal localization of kidney (HPO)", + "ocular adnexa", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", + "limb skeleton subdivision", + "phalanx endochondral element", + "3-D shape anatomical entity in independent continuant", + "anatomical system", + "aplasia or hypoplasia of anatomical entity", + "forelimb zeugopod skeleton", + "abnormal biological_process in independent continuant", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "bone of free limb or fin", + "abnormal external nose", + "appendicular skeleton", + "Abnormal cellular immune system morphology (HPO)", + "immune system", + "face", + "abnormal craniocervical region", + "manual digit plus metapodial segment", + "Abnormal upper limb bone morphology (HPO)", + "Abnormality of bone marrow cell morphology (HPO)", + "zone of long bone", + "manus bone", + "skeleton", + "Abnormal platelet count (HPO)", + "abnormal manual digit 1 morphology", + "decreased qualitatively sensory perception of sound", + "abnormal palpebral fissure", + "abnormal epiphysis morphology in the independent continuant", + "Abnormal eyelid morphology (HPO)", + "limb long bone", + "dermatocranium", + "anatomical structure", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "anatomical collection", + "bone element hypoplasia in independent continuant", + "abnormal anatomical entity morphology", + "integument", + "abnormal number of anatomical enitites of type anatomical entity", + "hematopoietic system", + "abnormal forebrain morphology", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "manual digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "Abnormal hand morphology (HPO)", + "system", + "Abnormality of the face (HPO)", + "aplasia or hypoplasia of skeleton", + "independent continuant", + "U-shaped kidney", + "material anatomical entity", + "abnormal epiphysis morphology in the skeleton of manus", + "appendage", + "3-D shape anatomical entity", + "Abnormal cellular phenotype (HPO)", + "testis", + "craniocervical region", + "Abnormality of upper limb epiphysis morphology (HPO)", + "Abnormality of brain morphology (HPO)", + "pectoral appendage", + "autopodial extension", + "agenesis of anatomical entity", + "abnormal nervous system", + "abnormal DNA metabolic process", + "decreased size of the mandible", + "forelimb", + "sensory perception of sound", + "abnormal phalanx of manus morphology", + "absent epiphysis", + "abnormal arm", + "Abnormal appendicular skeleton morphology (HPO)", + "multicellular organism", + "abnormality of male reproductive system physiology", + "abnormal ocular adnexa", + "Absent thumb (HPO)", + "organism substance", + "Abnormal leukocyte count (HPO)", + "chromatin remodeling", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", + "Micrognathia (HPO)", + "abnormal limb bone", + "increased pigmentation in independent continuant", + "Absent epiphyses of the thumb (HPO)", + "abnormal epiphysis of phalanx of manus morphology", + "abnormal cellular component organization", + "appendicular skeletal system", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "Anemia (HPO)", + "Abnormal thumb morphology (HPO)", ], "has_phenotype_count": 20, "highlight": None, @@ -9676,705 +15029,1197 @@ def autocomplete(): "HP:0003076", "HP:0002909", "HP:0002049", + "HP:0001942", "HP:0003648", "HP:0001324", - "HP:0001942", "HP:0002749", - "HP:0000124", - "HP:0004322", - "HP:0000083", + "HP:0003155", "HP:0002148", + "HP:0000124", "HP:0003109", "HP:0002900", "HP:0002748", - "HP:0034359", "HP:0003076", - "HP:0003155", "HP:0003355", + "HP:0004322", "HP:0003126", + "HP:0000083", ], "has_phenotype_label": [ - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Osteomalacia", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis", - "Lacticaciduria", - "Muscle weakness", - "Metabolic acidosis", - "Osteomalacia", - "Renal tubular dysfunction", - "Short stature", - "Renal insufficiency", - "Hypophosphatemia", - "Hyperphosphaturia", - "Hypokalemia", - "Rickets", - "Impaired renal tubular reabsorption of phosphate", - "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", - "Low-molecular-weight proteinuria", + "Renal phosphate wasting (HPO)", + "Weight loss (HPO)", + "Muscle weakness (HPO)", + "Bicarbonate-wasting renal tubular acidosis (HPO)", + "Osteomalacia (HPO)", + "Growth delay (HPO)", + "Stage 5 chronic kidney disease (HPO)", + "Hypercalciuria (HPO)", + "Dehydration (HPO)", + "Pulmonary fibrosis (HPO)", + "Hypoglycemia (HPO)", + "Chronic kidney disease (HPO)", + "Renal sodium wasting (HPO)", + "Hypophosphatemic rickets (HPO)", + "Hypouricemia (HPO)", + "Decreased plasma carnitine (HPO)", + "Increased urinary potassium (HPO)", + "Hypokalemia (HPO)", + "Increased susceptibility to fractures (HPO)", + "Bone pain (HPO)", + "Hypophosphatemia (HPO)", + "Abnormal urine pH (HPO)", + "Hyperchloremic metabolic acidosis (HPO)", + "Bicarbonaturia (HPO)", + "Hyperuricosuria (HPO)", + "Low-molecular-weight proteinuria (HPO)", + "Glycosuria (HPO)", + "Generalized aminoaciduria (HPO)", + "Proximal renal tubular acidosis (HPO)", + "Metabolic acidosis (HPO)", + "Lacticaciduria (HPO)", + "Muscle weakness (HPO)", + "Osteomalacia (HPO)", + "Elevated circulating alkaline phosphatase concentration (HPO)", + "Hypophosphatemia (HPO)", + "Renal tubular dysfunction (HPO)", + "Hyperphosphaturia (HPO)", + "Hypokalemia (HPO)", + "Rickets (HPO)", + "Glycosuria (HPO)", + "Aminoaciduria (HPO)", + "Short stature (HPO)", + "Low-molecular-weight proteinuria (HPO)", + "Renal insufficiency (HPO)", ], "has_phenotype_closure": [ - "UPHENO:0046362", + "UPHENO:0012541", + "UPHENO:0075159", + "UPHENO:0075195", + "HP:0004322", + "UPHENO:0069254", + "UPHENO:0068292", + "PR:000003968", + "PR:000018263", + "PR:000000001", + "CHEBI:28358", + "UPHENO:0068094", + "CHEBI:33575", + "HP:0001992", + "UPHENO:0046286", + "UPHENO:0068040", + "CHEBI:33608", + "CHEBI:60911", + "CHEBI:24651", + "HP:0031980", + "UPHENO:0051930", + "UPHENO:0068495", + "CHEBI:35605", + "HP:0003155", + "CHEBI:36586", + "UPHENO:0051635", + "UPHENO:0068058", + "UPHENO:0080658", + "HP:0003076", + "CHEBI:60004", + "CHEBI:37622", + "CHEBI:50047", + "CHEBI:16541", + "UPHENO:0068247", + "CHEBI:33709", + "UPHENO:0068565", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068491", + "UPHENO:0078554", + "CHEBI:35406", + "HP:0033354", + "HP:0003646", + "UPHENO:0068036", + "CHEBI:25696", + "CHEBI:25741", + "UPHENO:0051714", + "UPHENO:0051688", + "UPHENO:0051659", + "CHEBI:17544", + "CHEBI:25699", + "HP:0011279", + "UPHENO:0081777", + "UPHENO:0084542", + "HP:0004918", + "HP:0032943", + "HP:0002653", + "HP:0012531", + "UPHENO:0068511", + "HP:0002900", + "CHEBI:60242", + "CHEBI:25414", + "HP:0010929", + "CHEBI:36915", + "CHEBI:23906", + "CHEBI:24835", + "GO:0050801", + "UPHENO:0051645", + "CHEBI:37247", + "CHEBI:29103", + "HP:0001995", + "CHEBI:36916", + "CHEBI:36914", + "UPHENO:0051958", + "UPHENO:0034438", + "HP:0003081", + "UPHENO:0068296", + "UPHENO:0051739", + "UPHENO:0046283", + "HP:0012598", + "UPHENO:0068350", + "UPHENO:0051849", + "CHEBI:26469", + "CHEBI:35281", + "GO:0110165", + "HP:0003287", + "UPHENO:0050484", + "CHEBI:51151", + "GO:0005739", + "GO:0032787", + "UPHENO:0068079", + "UPHENO:0084541", + "GO:0005575", + "UPHENO:0078640", + "GO:0043436", + "UPHENO:0077817", + "CHEBI:35381", + "GO:0006577", + "GO:0006575", + "UPHENO:0034319", + "CHEBI:17126", + "UPHENO:0084472", + "HP:0003119", + "CHEBI:35604", + "HP:0010996", + "UPHENO:0051777", + "CHEBI:22860", + "GO:0044255", + "CHEBI:35284", + "CHEBI:33833", + "GO:0019752", + "UPHENO:0051887", + "HP:0004359", + "CHEBI:83821", + "GO:0005737", + "UPHENO:0002816", + "UPHENO:0049723", + "HP:0001939", + "CHEBI:27171", + "GO:0043229", + "HP:0004325", + "GO:0043227", + "GO:0043226", + "GO:0005623", + "UBERON:0001630", + "UPHENO:0006889", + "UPHENO:0080352", + "UPHENO:0034149", + "UPHENO:0078646", + "UPHENO:0084537", + "CHEBI:33318", + "CHEBI:38101", + "GO:0071704", + "CHEBI:59999", + "HP:0003126", + "UPHENO:0049873", + "CHEBI:33635", + "CHEBI:5686", + "UPHENO:0077826", + "UPHENO:0034351", + "UPHENO:0051736", + "HP:0002795", + "GO:0072521", + "UPHENO:0034199", + "GO:0046483", + "GO:0034641", + "GO:0009987", + "UPHENO:0050121", + "UBERON:0013702", + "UPHENO:0068538", + "HP:0011843", + "UPHENO:0049602", + "CHEBI:25810", + "GO:0048878", + "HP:0012603", + "CHEBI:33595", + "GO:0009112", + "CHEBI:72695", + "UBERON:0005172", + "UPHENO:0068251", + "UPHENO:0051588", + "CHEBI:26217", + "CHEBI:33671", + "UBERON:0005178", + "CHEBI:24532", + "UPHENO:0066781", + "CHEBI:25367", + "UPHENO:0067999", + "HP:0004369", + "HP:0003648", + "CHEBI:33659", + "UPHENO:0078616", + "UPHENO:0066739", + "UBERON:0004111", + "HP:0001943", + "UPHENO:0034253", + "GO:0099568", + "HP:0002748", + "CHEBI:51143", + "HP:0004912", + "HP:0002148", + "CHEBI:33259", + "HP:0012211", + "CHEBI:24867", + "CHEBI:33238", + "HP:0000079", + "HP:0002206", + "UPHENO:0051709", + "UPHENO:0046356", + "CHEBI:32988", + "CHEBI:36962", + "CHEBI:25806", + "CHEBI:78616", + "HP:0001941", + "CHEBI:50860", + "UBERON:0000179", + "HP:0001324", + "UBERON:0002390", + "CHEBI:36080", + "UBERON:0002193", + "UPHENO:0076286", + "UBERON:0000178", + "CHEBI:17234", + "CHEBI:33917", + "HP:0500165", "UPHENO:0075666", - "HP:0004379", - "UPHENO:0081777", - "UPHENO:0082943", - "HP:0011038", - "HP:0011036", - "UPHENO:0051280", - "UPHENO:0051191", - "UPHENO:0068292", - "UPHENO:0068352", - "HP:0004322", - "UPHENO:0068971", - "UPHENO:0069254", - "UPHENO:0080352", - "UPHENO:0075159", - "UPHENO:0068511", + "HP:0011014", + "UPHENO:0050433", + "UPHENO:0051766", + "HP:0011015", + "CHEBI:18133", + "UPHENO:0051704", + "HP:0004910", + "CHEBI:15693", + "HP:0003355", + "UPHENO:0004459", + "CHEBI:26082", + "UPHENO:0068442", + "UPHENO:0051640", + "GO:0006631", + "UPHENO:0034217", "HP:0012072", - "UPHENO:0068040", - "UPHENO:0068091", - "UPHENO:0051930", - "UPHENO:0068169", - "UPHENO:0051670", - "UPHENO:0046286", - "UPHENO:0068144", - "UPHENO:0068495", - "UPHENO:0012541", - "UPHENO:0068491", + "UBERON:0001558", + "HP:0012415", + "UPHENO:0077825", + "UPHENO:0051804", + "UPHENO:0068352", + "CHEBI:36963", + "UBERON:0000025", + "CHEBI:33832", + "HP:0025354", + "CHEBI:33285", + "HP:0033127", + "GO:0009437", + "UPHENO:0081424", "HP:0040156", - "UPHENO:0051635", - "UPHENO:0080658", - "UPHENO:0068058", - "HP:0000093", - "UPHENO:0068247", - "UPHENO:0068565", - "UPHENO:0051801", - "UPHENO:0078555", - "HP:0002086", - "HP:0003355", - "UPHENO:0019970", - "UPHENO:0004536", - "HP:0003109", - "HP:0001510", - "UPHENO:0049873", - "UPHENO:0068024", "UPHENO:0020748", - "UPHENO:0051645", - "HP:0002150", - "UPHENO:0046344", - "UPHENO:0081544", - "HP:0006530", - "UPHENO:0066927", - "HP:0020129", - "UPHENO:0046348", - "HP:0004352", - "UPHENO:0034319", - "UPHENO:0068110", - "HP:0001947", - "UPHENO:0046284", - "HP:0002148", - "UPHENO:0050121", - "UPHENO:0051678", - "UPHENO:0084472", - "UPHENO:0075195", - "UPHENO:0086132", + "UBERON:0000170", + "CHEBI:33695", + "CHEBI:27369", + "UBERON:0000468", + "HP:0012337", + "HP:0002157", + "CHEBI:33504", + "UPHENO:0079822", + "UBERON:0000915", + "CHEBI:26708", + "UPHENO:0051898", + "UBERON:0001005", + "UPHENO:0054261", + "UBERON:0000171", + "CHEBI:33273", + "UBERON:0000065", + "UBERON:0000072", "UPHENO:0020584", - "UPHENO:0050619", - "UPHENO:0000541", - "UPHENO:0049709", - "HP:0003330", - "HP:0012252", - "UPHENO:0002964", + "UBERON:0002075", + "UBERON:0005181", + "UPHENO:0015280", + "UPHENO:0081548", + "UPHENO:0082544", + "UBERON:0034925", + "BFO:0000003", + "HP:0006530", + "UBERON:0013522", + "UPHENO:0082943", + "GO:0006144", + "CHEBI:36587", + "CHEBI:36357", + "UBERON:0002048", "UPHENO:0082542", - "HP:0000119", - "UPHENO:0048707", - "UPHENO:0068442", - "UPHENO:0049618", - "UPHENO:0006889", - "UPHENO:0082835", - "UPHENO:0081547", - "UPHENO:0068089", - "UPHENO:0082543", - "HP:0001324", - "UPHENO:0068134", - "UPHENO:0079536", - "HP:0003076", - "UPHENO:0068102", - "UPHENO:0000543", - "HP:0031980", - "HP:0003646", - "HP:0010930", + "HP:0002086", + "GO:0044281", + "CHEBI:16646", + "CHEBI:33250", + "UBERON:0001474", "HP:0000077", - "HP:0004360", - "UPHENO:0051640", - "UPHENO:0081546", - "UPHENO:0002411", - "UPHENO:0001001", - "UPHENO:0051619", - "HP:0000079", - "HP:0004323", + "UPHENO:0076299", + "UPHENO:0080351", + "HP:0002909", + "UPHENO:0068134", + "HP:0002088", + "HP:0012252", + "HP:0001944", + "UPHENO:0050619", + "UPHENO:0046362", + "UPHENO:0052116", + "UPHENO:0082794", + "UPHENO:0049587", + "UBERON:0005090", + "HP:0011042", + "UPHENO:0051712", "UPHENO:0051186", + "UPHENO:0046344", + "UBERON:0000061", "UPHENO:0076289", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "HP:0012622", - "UPHENO:0082539", - "UPHENO:0082538", - "UPHENO:0050433", - "HP:0004910", - "BFO:0000002", - "BFO:0000001", - "HP:0003774", - "UPHENO:0082834", - "HP:0000924", - "UPHENO:0080659", - "UPHENO:0051668", - "UPHENO:0052116", - "HP:0003155", - "UPHENO:0080556", - "HP:0002900", - "HP:0012103", - "HP:0002749", - "UPHENO:0002442", + "HP:0002150", "UPHENO:0001003", - "UPHENO:0054261", - "HP:0004325", - "UPHENO:0001002", - "HP:0002206", - "UPHENO:0051898", - "UPHENO:0081548", - "UPHENO:0015280", + "CHEBI:33579", + "UBERON:0000463", "UPHENO:0078592", - "HP:0012591", - "HP:0001939", - "UPHENO:0068064", - "UPHENO:0076692", - "UPHENO:0002536", - "HP:0003149", - "UPHENO:0049628", - "UPHENO:0084653", - "UPHENO:0002320", - "UPHENO:0081423", - "HP:0002909", - "UPHENO:0002642", - "HP:0004348", - "HP:0000001", - "HP:0003537", - "HP:0001942", - "HP:0001507", - "UPHENO:0076294", - "HP:0004359", - "HP:0012211", - "UPHENO:0051847", - "HP:0003110", - "UPHENO:0034391", - "UPHENO:0010763", - "UPHENO:0054299", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0049874", - "HP:0000117", - "UPHENO:0081550", - "PATO:0000001", - "HP:0002088", - "UPHENO:0002816", - "HP:0001824", - "UPHENO:0068538", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0011849", - "UPHENO:0050539", + "UPHENO:0051619", + "HP:0100529", + "CL:0000000", + "UPHENO:0068110", + "UBERON:0004119", + "GO:0050878", + "HP:0003774", + "UPHENO:0081440", "HP:0000083", - "UPHENO:0082794", - "HP:0011804", - "HP:0010935", - "BFO:0000020", - "HP:0011032", - "UPHENO:0001005", - "UPHENO:0075902", - "HP:0012599", - "HP:0011277", - "UPHENO:0046283", - "HP:0033127", - "HP:0012337", - "HP:0003011", - "UPHENO:0051763", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0049904", - "HP:0004369", - "HP:0012610", - "UPHENO:0051766", - "UPHENO:0080555", - "HP:0011015", - "UPHENO:0004459", - "UPHENO:0080351", - "UPHENO:0076286", - "HP:0001943", - "UPHENO:0034438", - "HP:0012531", + "CHEBI:33839", + "GO:0065007", + "GO:0055086", + "UPHENO:0000541", + "UPHENO:0051801", + "GO:0008152", + "HP:0003234", + "BFO:0000002", + "GO:0001503", + "UBERON:0002204", + "HP:0003110", + "UPHENO:0046284", + "UPHENO:0052008", + "HP:0003330", + "UPHENO:0081581", + "GO:0065008", + "GO:0044237", + "UPHENO:0068102", + "CHEBI:35352", + "HP:0000924", + "HP:0004348", + "HP:0001947", "HP:0004349", - "HP:0012603", - "HP:0012606", - "UPHENO:0051887", - "HP:0032180", - "HP:0011042", - "UPHENO:0051866", - "UPHENO:0050116", - "UPHENO:0046356", - "UPHENO:0051960", - "UPHENO:0051849", - "UPHENO:0051714", + "UPHENO:0084653", + "UBERON:0001015", + "HP:0000002", + "CHEBI:33304", + "HP:0011842", + "CHEBI:22984", + "CHEBI:138675", + "UPHENO:0076294", + "UPHENO:0081544", + "HP:0011032", + "GO:1901564", + "HP:0010966", + "HP:0012379", + "UPHENO:0002448", + "CHEBI:33521", + "CHEBI:33296", + "UPHENO:0076692", + "CHEBI:33256", + "CHEBI:33636", + "UPHENO:0076703", + "GO:0055080", + "CHEBI:33302", + "UPHENO:0050539", + "UPHENO:0001001", "UPHENO:0051937", - "UPHENO:0050080", - "HP:0001992", + "UBERON:0011216", + "HP:0012622", + "HP:0012606", + "UPHENO:0084654", + "UPHENO:0068054", + "UBERON:0004120", + "UBERON:0000479", + "CHEBI:26401", + "UPHENO:0078555", + "HP:0001510", + "UPHENO:0082834", + "UPHENO:0002803", + "UPHENO:0051847", + "UBERON:0006314", "UPHENO:0066943", - "UPHENO:0051709", + "UBERON:0000916", + "GO:0055062", + "UPHENO:0080659", + "HP:0011280", + "HP:0012591", + "UBERON:0002100", + "UBERON:0002417", + "HP:0001507", + "HP:0001871", "HP:0003111", - "UPHENO:0034253", - "HP:0003648", - "HP:0001941", - "UPHENO:0051804", - "HP:0004912", - "HP:0003126", - "UPHENO:0002803", + "UPHENO:0034248", + "CHEBI:22314", + "UPHENO:0082835", + "UPHENO:0068971", + "UBERON:0003103", + "UPHENO:0082539", + "UBERON:0009569", + "UBERON:0011676", + "CHEBI:24431", + "UPHENO:0068169", + "UPHENO:0082543", + "UPHENO:0002411", + "HP:0003537", + "CHEBI:36358", + "GO:1901360", + "UPHENO:0081546", + "GO:0040007", + "HP:0004360", + "UPHENO:0082761", + "UBERON:0004819", + "HP:0003011", + "UPHENO:0081547", + "GO:0043231", + "PR:000050567", + "UPHENO:0051866", + "UPHENO:0079536", + "UPHENO:0054299", + "UBERON:0000483", + "HP:0004354", + "CHEBI:33672", + "UPHENO:0024906", + "HP:0001942", + "UPHENO:0068089", + "CHEBI:25213", + "UBERON:0015212", + "UPHENO:0048707", + "CHEBI:15841", + "HP:0004364", + "PATO:0000001", + "UPHENO:0049874", + "UPHENO:0000543", + "CHEBI:33694", + "UPHENO:0049709", + "HP:0011017", + "UBERON:0002113", + "UBERON:0013701", + "UBERON:0011143", + "GO:0098771", + "UPHENO:0068064", "UPHENO:0002832", - "HP:0002748", - "HP:0100529", - "HP:0011280", - "UPHENO:0051704", - "UPHENO:0034217", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "UPHENO:0082544", - "UPHENO:0068251", - "UPHENO:0068054", - "UPHENO:0051777", - "UPHENO:0078616", - "HP:0034684", - "HP:0010932", - "UPHENO:0051686", - "UPHENO:0068036", - "UPHENO:0050113", - "UPHENO:0049748", - "UPHENO:0079822", + "UPHENO:0051668", + "HP:0032180", + "GO:0006725", + "UBERON:0004765", + "GO:0033500", + "UPHENO:0051678", + "GO:0006082", + "UPHENO:0002320", + "UPHENO:0002642", + "HP:0004323", + "UPHENO:0080555", + "GO:0042592", + "UBERON:0000062", + "HP:0000117", + "GO:0044238", + "GO:0006807", + "UPHENO:0019970", + "UBERON:0005177", + "HP:0003109", + "GO:0032501", + "HP:0010930", + "UBERON:0007684", + "GO:0008150", + "UPHENO:0077829", + "HP:0011804", + "UPHENO:0051670", + "UPHENO:0034276", + "UBERON:0001231", + "CHEBI:26079", + "UPHENO:0080556", + "CHEBI:64709", + "HP:0025142", + "GO:0006629", + "HP:0004352", + "HP:0001824", + "UBERON:0000174", + "UBERON:0004211", + "CHEBI:33655", + "GO:0042593", + "HP:0011277", + "HP:0003149", + "UBERON:0000467", + "HP:0010935", + "CHEBI:24870", "UPHENO:0051608", - "UPHENO:0051688", - "UPHENO:0077821", - "UPHENO:0077826", - "UPHENO:0051712", - "UPHENO:0086128", - "UPHENO:0049587", - "UPHENO:0066781", - "HP:0011279", + "CHEBI:26216", + "CHEBI:33559", + "CHEBI:36359", + "UBERON:0004122", "HP:0002659", - "HP:0004364", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0081424", - "UPHENO:0084541", - "UPHENO:0024906", - "UPHENO:0034149", + "CHEBI:27226", + "HP:0000001", + "UPHENO:0075902", + "UBERON:0001088", + "HP:0034684", + "CHEBI:16670", + "UPHENO:0075696", + "GO:0055067", + "UPHENO:0077821", + "UPHENO:0002964", + "BFO:0000004", + "HP:0020129", + "UBERON:0000064", + "UPHENO:0051900", + "CHEBI:24833", + "UPHENO:0001002", + "UPHENO:0068144", + "CHEBI:33675", + "CHEBI:33241", + "UBERON:0001004", + "UBERON:0000475", + "GO:0006139", + "UPHENO:0050113", + "HP:0010932", + "GO:0005622", + "BFO:0000015", + "CHEBI:33674", + "UBERON:0000383", + "CHEBI:38166", + "UPHENO:0004536", + "CHEBI:36360", + "HP:0000119", + "UPHENO:0081550", + "UBERON:0001285", + "CHEBI:26020", + "BFO:0000040", + "HP:0012599", + "UPHENO:0001005", + "HP:0000118", "UPHENO:0082875", - "UPHENO:0034276", - "HP:0004354", - "UPHENO:0068350", - "HP:0025354", - "UPHENO:0050484", - "HP:0010966", - "HP:0003119", - "UPHENO:0084537", - "UPHENO:0049723", - "HP:0034359", - "HP:0010967", - "UPHENO:0078640", - "UPHENO:0068094", - "UPHENO:0078646", - "UPHENO:0034248", - "HP:0001944", - "HP:0003287", - "UPHENO:0086172", - "UPHENO:0034199", - "HP:0011017", - "HP:0010996", + "UPHENO:0051960", + "UPHENO:0051686", + "UBERON:0003914", + "CHEBI:23367", + "UPHENO:0068091", + "CHEBI:37577", + "UPHENO:0077820", "HP:0002049", - "UPHENO:0066739", - "UPHENO:0068296", - "UPHENO:0087433", - "HP:0012598", - "HP:0003081", - "UPHENO:0051958", - "UPHENO:0076299", - "UPHENO:0052008", - "HP:0010929", - "UPHENO:0086908", - "UPHENO:0081440", - "HP:0032943", - "HP:0003234", - "HP:0011843", - "HP:0025142", - "UPHENO:0076703", - "HP:0002653", - "HP:0004918", + "BFO:0000020", + "UBERON:0005173", + "HP:0004379", + "HP:0002749", + "UPHENO:0002536", + "UPHENO:0051763", + "UBERON:0001434", + "UPHENO:0010795", + "UBERON:0001062", + "CHEBI:22563", + "UPHENO:0046348", + "BFO:0000001", + "UPHENO:0081423", + "UPHENO:0082538", + "UPHENO:0010763", + "HP:0012103", + "UBERON:0009773", + "UBERON:0010000", + "HP:0011849", + "HP:0000093", + "UPHENO:0002442", + "HP:0010967", + "CHEBI:33582", "HP:0000124", - "UPHENO:0067999", - "HP:0001995", - "HP:0000002", - "HP:0002157", - "HP:0033354", - "UPHENO:0084542", - "UPHENO:0051659", - "UPHENO:0068079", + "UBERON:0001008", + "UBERON:8450002", + "CHEBI:35875", + "UBERON:0000489", + "UPHENO:0066927", "UPHENO:0002332", - "UPHENO:0078554", + "UPHENO:0079824", + "UPHENO:0034391", + "CHEBI:22313", + "UBERON:0000465", + "UBERON:0006555", ], "has_phenotype_closure_label": [ + "abnormal size of anatomical entity", + "decreased size of the multicellular organism", + "Short stature (HPO)", + "decreased height of the anatomical entity", + "abnormality of multicellular organism height", + "Hyperphosphaturia (HPO)", + "increased level of phosphate in urine", + "biomacromolecule", "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "protein", + "amino acid chain", + "Abnormal enzyme/coenzyme activity (HPO)", + "information biomacromolecule", + "Abnormality of alkaline phosphatase level (HPO)", + "abnormal protein level", "increased level of protein", + "Elevated circulating alkaline phosphatase concentration (HPO)", "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "Impaired renal tubular reabsorption of phosphate", - "abnormal renal system process", - "Abnormal renal tubular resorption", - "abnormal renal absorption", - "Hyperphosphaturia", - "increased level of phosphate in urine", + "Abnormal enzyme concentration or activity", + "increased level of rac-lactic acid in independent continuant", + "rac-lactic acid", + "increased level of rac-lactic acid in urine", + "chemical substance", + "abnormal independent continuant carboxylic acid level", + "decreased size of the anatomical entity in the independent continuant", + "hydrogen molecular entity", + "Generalized aminoaciduria (HPO)", + "organic acid", + "carbonyl compound", + "carboxylic acid", + "oxoacid", + "abnormal independent continuant amino acid level", + "Elevated urinary carboxylic acid (HPO)", + "increased level of amino acid in urine", + "abnormal urine amino acid level", + "Aminoaciduria (HPO)", + "increased level of organic acid in urine", + "increased level of glucose in independent continuant", + "increased level of monosaccharide in urine", + "increased level of monosaccharide in independent continuant", + "amide", + "mixture", + "primary amide", + "organic amino compound", + "Proteinuria (HPO)", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in independent continuant", + "macromolecule", + "abnormal size of multicellular organism", + "increased level of uric acid in urine", + "increased level of uric acid in independent continuant", + "Hyperuricosuria (HPO)", + "organic anion", + "Abnormality of body height (HPO)", + "abnormal hydrogencarbonate level", + "hydrogencarbonate", + "increased level of organic molecular entity in independent continuant", + "oxoanion", "decreased height of the multicellular organism", + "Abnormal urine carboxylic acid level (HPO)", + "organic ion", + "amino acid", + "anion", + "abnormal independent continuant hydrogencarbonate level", + "Abnormality of urine bicarbonate level (HPO)", + "Abnormal urine pH (HPO)", + "increased level of carboxylic acid in independent continuant", + "Bone pain (HPO)", + "Increased susceptibility to fractures (HPO)", + "abnormality of musculoskeletal system physiology", + "obsolete monovalent inorganic cation homeostasis", + "abnormal blood potassium atom level", + "polyatomic ion", + "decreased level of potassium atom in blood", + "abnormal urine glucose level", + "inorganic cation", + "Abnormal urine metabolite level (HPO)", + "alkali metal molecular entity", + "monoatomic cation", + "abnormal blood potassium(1+) level", + "increased independent continuant base level", + "monoatomic ion homeostasis", + "monoatomic monocation", + "Abnormal blood monovalent inorganic cation concentration (HPO)", + "Abnormal blood potassium concentration (HPO)", + "cation", + "inorganic ion", + "Hypokalemia (HPO)", + "decreased level of potassium atom in independent continuant", + "potassium atom", + "abnormal urine organic anion level", + "abnormal independent continuant potassium atom level", + "Increased urinary potassium (HPO)", + "Decreased plasma carnitine (HPO)", + "decreased level of amino-acid betaine", + "Abnormal circulating monocarboxylic acid concentration", + "intracellular membrane-bounded organelle", + "carnitine metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion (HPO)", + "abnormal amino-acid betaine level", + "Abnormality of the genitourinary system (HPO)", + "Abnormal circulating carnitine concentration (HPO)", + "abnormal monovalent inorganic cation homeostasis", + "excretory system", + "abnormal lipid metabolic process", + "cytoplasm", + "regulation of biological quality", + "abnormal mitochondrion", + "abnormal blood carnitine level", + "Organic aciduria (HPO)", + "dipolar compound", + "abnormal potassium atom level", + "Abnormal bone structure (HPO)", + "mitochondrion", + "decreased level of carnitine in blood", + "amino-acid betaine metabolic process", + "Constitutional symptom (HPO)", + "lipid metabolic process", + "cellular anatomical entity", + "abnormal cellular_component", + "abnormal urine sodium atom level", + "organic molecule", + "intracellular organelle", + "Hypouricemia (HPO)", + "increased level of calcium atom in independent continuant", + "abnormal independent continuant calcium atom level", + "organonitrogen compound", + "Abnormal circulating nucleobase concentration (HPO)", + "fatty acid metabolic process", + "polycyclic compound", + "onium betaine", + "heteropolycyclic compound", + "abnormal blood nitrogen molecular entity level", + "heterobicyclic compound", + "organic aromatic compound", + "Rickets (HPO)", + "Abnormal circulating nitrogen compound concentration (HPO)", + "imidazopyrimidine", + "Weight loss (HPO)", + "intracellular anatomical structure", + "increased level of amino acid in independent continuant", + "cellular process", + "increased level of nitrogen molecular entity in blood", + "increased level of nitrogen molecular entity in independent continuant", + "aromatic compound", + "organonitrogen heterocyclic compound", + "increased level of potassium atom in independent continuant", + "heteroarene", + "heterocyclic compound", + "organic cyclic compound", + "cyclic compound", + "purine-containing compound metabolic process", + "heterocycle metabolic process", + "abnormal independent continuant uric acid level", + "molecule", + "cellular modified amino acid metabolic process", + "nucleobase metabolic process", + "obsolete cell", + "Abnormal circulating purine concentration (HPO)", + "amino acid derivative", + "decreased level of uric acid in blood", + "decreased role independent continuant level", + "organic substance metabolic process", + "phenotype by ontology source", + "excreta", + "cell", + "cellular metabolic process", + "abnormal purine nucleobase metabolic process", + "endoderm-derived structure", + "cellular lipid metabolic process", + "Abnormal urine potassium concentration (HPO)", + "polyatomic entity", + "ion", + "abnormal independent continuant monoatomic ion level", + "Phenotypic abnormality", + "Hypophosphatemic rickets (HPO)", + "decreased level of phosphate in blood", + "decreased level of chemical entity in independent continuant", + "abnormal independent continuant organic anion level", + "abnormal independent continuant gas molecular entity level", + "decreased role blood level", + "phosphate ion homeostasis", "abnormality of anatomical entity height", - "abnormal size of multicellular organism", - "Abnormality of body height", - "increased level of rac-lactic acid in independent continuant", - "increased level of rac-lactic acid in urine", - "Proximal renal tubular acidosis", - "Organic aciduria", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of amino acid in urine", - "Generalized aminoaciduria", - "abnormal urine amino acid level", - "Aminoaciduria", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", - "increased level of organic acid in urine", - "increased level of organic acid in independent continuant", - "Elevated urinary carboxylic acid", - "increased level of monosaccharide in urine", + "decreased level of chemical entity", + "monoatomic ion", + "decreased level of phosphate in independent continuant", + "Abnormality of urinary uric acid level (HPO)", + "increased level of hydrogencarbonate in urine", + "Abnormality of body weight (HPO)", + "increased level of chemical entity in blood", + "Abnormal urine sodium concentration (HPO)", + "trunk", + "ammonium betaine", + "aldohexose", + "abnormal urine potassium atom level", + "haemolymphatic fluid", + "hematopoietic system", + "abnormal nucleobase metabolic process", + "hemolymphoid system", + "Abnormal circulating fatty-acid concentration (HPO)", + "Abnormality of the kidney (HPO)", + "Abnormal lung morphology (HPO)", + "abnormal blood chemical entity level", + "Abnormal blood gas level (HPO)", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant glucose level", + "delayed growth", + "cellular aromatic compound metabolic process", + "alkali metal cation", + "abnormal role blood level", + "carbohydrate homeostasis", + "aldose", + "abnormal carnitine metabolic process", + "epithelium", + "Decreased anatomical entity mass density", + "hexose", + "monosaccharide", + "Hypoglycemia (HPO)", "increased level of glucose in urine", - "increased level of glucose in independent continuant", - "increased level of monosaccharide in independent continuant", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in urine", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", + "organooxygen compound", + "Abnormal circulating metabolite concentration (HPO)", + "organic molecular entity", + "abnormal skeletal system morphology", "abnormal independent continuant carbohydrate level", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "abnormal blood nitrogen molecular entity level", - "Pulmonary fibrosis", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "Abnormality of the respiratory system", - "increased level of phosphate in independent continuant", + "mesoderm-derived structure", + "abnormal independent continuant carnitine level", + "abnormal blood gas molecular entity level", + "hydroxides", + "chemical homeostasis", + "epithelial tube", + "respiratory airway", + "abnormal metabolite independent continuant level", + "respiration organ", + "elemental molecular entity", + "Low-molecular-weight proteinuria (HPO)", + "respiratory tract", + "Dehydration (HPO)", + "proximo-distal subdivision of respiratory tract", + "sodium atom", + "abnormal cellular process", "abnormal lung morphology", - "All", + "nitrogen molecular entity", + "Hyperchloremic metabolic acidosis (HPO)", + "organochalcogen compound", + "abnormal anatomical entity morphology in the independent continuant", + "subdivision of tube", "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "Dehydration", - "Renal insufficiency", + "glucose", + "abnormal biological_process", + "lower respiratory tract", + "heteroatomic molecular entity", + "viscus", + "carboxylic acid metabolic process", + "thoracic segment organ", + "Bicarbonaturia (HPO)", + "Azotemia (HPO)", + "decreased multicellular organism mass", + "Pulmonary fibrosis (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "pair of lungs", + "oxygen molecular entity", + "increased level of purines in independent continuant", + "abnormality of respiratory system physiology", + "Renal phosphate wasting (HPO)", + "Abnormality of urine homeostasis (HPO)", + "anatomical collection", + "Abnormal muscle physiology (HPO)", + "Abnormality of the respiratory system (HPO)", "anatomical entity fibrosis", - "Abnormality of metabolism/homeostasis", - "abnormal role blood level", + "atom", + "lung", + "polypeptide", + "abnormal respiratory system", + "organic heterobicyclic compound", + "Abnormal respiratory system morphology (HPO)", + "lateral structure", "abnormal regulation of body fluid levels", - "increased level of chemical entity in bodily fluid", - "decreased size of the anatomical entity in the independent continuant", "abnormal urine calcium atom level", + "purines", + "Abnormality of the skeletal system (HPO)", + "calcium atom", + "Abnormal respiratory system physiology (HPO)", + "Abnormal renal physiology (HPO)", + "blood", + "oxide", + "abnormal monocarboxylic acid metabolic process", + "Hypercalciuria (HPO)", + "increased level of chemical entity in urine", + "carbohydrates and carbohydrate derivatives", + "muscle organ", "increased level of calcium atom in urine", - "Elevated circulating alkaline phosphatase concentration", - "abnormality of kidney physiology", - "Hypercalciuria", - "Abnormal circulating carboxylic acid concentration", - "abnormal calcium atom level", - "increased level of organic molecular entity in independent continuant", - "non-functional kidney", - "Chronic kidney disease", - "Abnormality of bone mineral density", - "Abnormal bone structure", - "Hyperchloremic acidosis", - "abnormal bone element mass density", - "abnormal monoatomic cation homeostasis", - "Abnormal circulating enzyme concentration or activity", - "Hyperuricosuria", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "abnormal role independent continuant level", - "increased bodily fluid role level", - "Acidosis", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Short stature", - "abnormally decreased functionality of the anatomical entity", - "Abnormal renal physiology", - "Weight loss", - "increased independent continuant acid level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "abnormal urine chemical entity level", - "abnormal homeostatic process", - "Abnormality of the urinary system physiology", - "increased level of potassium atom in independent continuant", - "decreased muscle organ strength", - "Aciduria", - "Abnormality of the urinary system", - "abnormal independent continuant potassium atom level", - "Abnormality of urinary uric acid level", - "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal urine potassium atom level", - "entity", - "increased level of protein polypeptide chain in independent continuant", + "increased level of carboxylic acid in urine", + "multicellular organismal process", + "Abnormality of urine calcium concentration (HPO)", + "abnormal fatty acid metabolic process", + "purine nucleobase metabolic process", + "Chronic kidney disease (HPO)", + "Abnormality of musculoskeletal physiology (HPO)", + "delayed biological_process", + "Stage 5 chronic kidney disease (HPO)", + "carbon group molecular entity", + "metal cation", + "Growth delay (HPO)", + "Hypophosphatemia (HPO)", + "monovalent inorganic cation", + "musculoskeletal system", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "process", + "carboxamide", + "Abnormality of the urinary system (HPO)", + "biological regulation", + "increased independent continuant role level", + "decreased level of chemical entity in blood", + "Abnormal bone ossification (HPO)", + "alkaline phosphatase, tissue-nonspecific isozyme", + "continuant", + "Osteomalacia (HPO)", + "Abnormal skeletal morphology (HPO)", + "regulation of body fluid levels", "abnormal skeletal system", - "abnormal potassium atom level", - "Abnormal musculoskeletal physiology", + "monocarboxylic acid metabolic process", + "Abnormality of the musculature (HPO)", + "compound organ", + "abnormal cellular metabolic process", + "Renal insufficiency (HPO)", + "carbohydrate", + "homeostatic process", + "abnormal role urine level", + "zwitterion", + "Abnormal cellular phenotype (HPO)", + "renal tubule", + "uriniferous tubule", + "increased level of chemical entity", + "abnormal growth", + "respiratory system", + "abnormal urine chemical entity level", + "Abnormality of bone mineral density (HPO)", + "decreased anatomical entity mass", "anatomical entity dysfunction in independent continuant", - "abnormal musculature", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "increased level of amino acid in independent continuant", - "Abnormality of the musculature", - "abnormal independent continuant calcium atom level", - "Reduced bone mineral density", - "specifically dependent continuant", + "decreased level of carnitine in independent continuant", + "abnormal blood oxygen molecular entity level", "abnormal anatomical entity morphology", - "delayed biological_process", - "Osteomalacia", - "abnormal multicellular organism chemical entity level", - "abnormality of muscle organ physiology", - "Growth delay", - "abnormal blood glucose level", - "Decreased plasma carnitine", - "Renal phosphate wasting", - "Metabolic acidosis", - "quality", + "Reduced bone mineral density (HPO)", + "abnormally decreased functionality of the nephron tubule", + "Metabolic acidosis (HPO)", + "increased level of phosphate in independent continuant", "abnormality of renal system physiology", - "Stage 5 chronic kidney disease", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in blood", + "Decreased bone element mass density", + "organism subdivision", + "body proper", + "glucose homeostasis", + "abnormality of kidney physiology", + "monoatomic entity", + "abnormal sodium atom level", + "organic acid metabolic process", + "cellular nitrogen compound metabolic process", + "abnormal multicellular organism morphology", + "primary metabolic process", + "ossification", + "abnormal metabolic process", + "abnormal phosphate ion homeostasis", + "abdomen", + "protein polypeptide chain", + "Bicarbonate-wasting renal tubular acidosis (HPO)", + "organ part", + "phosphorus oxoacids and derivatives", + "carbon oxoacid", + "nephron tubule", + "increased level of chemical entity in bodily fluid", + "abnormal musculature", + "subdivision of trunk", + "abdomen element", + "increased level of hydrogencarbonate in independent continuant", + "Pain (HPO)", + "organic heteropolycyclic compound", + "elemental potassium", + "anatomical conduit", + "abnormal blood phosphate level", + "organic oxo compound", + "increased independent continuant acid level", + "potassium molecular entity", + "Decreased circulating purine concentration (HPO)", + "s-block element atom", + "abnormal anatomical entity mass density", + "decreased level of uric acid in independent continuant", + "chalcogen molecular entity", + "cavitated compound organ", + "Renal tubular acidosis (HPO)", + "bodily fluid", + "occurrent", + "phosphorus oxoacid derivative", + "specifically dependent continuant", + "abnormal role independent continuant level", + "nephron epithelium", + "increased level of potassium atom in urine", + "Renal sodium wasting (HPO)", + "Hyperchloremic acidosis (HPO)", + "abnormal acid bodily fluid level", + "Glycosuria (HPO)", + "abnormality of anatomical entity mass", + "bone element", + "abnormal amino acid level", + "Aciduria (HPO)", + "nucleobase-containing compound metabolic process", + "subdivision of organism along main body axis", "abnormal respiratory system morphology", - "increased level of uric acid in urine", - "Abnormality of urine homeostasis", - "decreased role independent continuant level", - "increased level of calcium atom in independent continuant", - "Abnormal respiratory system morphology", - "Bone pain", - "Abnormality of the upper urinary tract", + "main body axis", + "Abnormal urine protein level (HPO)", + "alkali metal atom", + "Lacticaciduria (HPO)", + "alkaline earth metal atom", + "increased bodily fluid acid level", + "cytoplasmic region", + "excretory tube", + "increased level of organic acid in independent continuant", + "skeletal system", + "abnormally decreased functionality of the anatomical entity", + "upper urinary tract", + "Proximal renal tubular acidosis (HPO)", + "organic heterocyclic compound", + "abnormal calcium atom level", + "kidney", + "Abnormal circulating carboxylic acid concentration (HPO)", "decreased anatomical entity strength", - "Abnormal circulating fatty-acid concentration", - "abnormal anatomical entity", - "abnormal phenotype by ontology source", - "decreased level of potassium atom in blood", - "abnormal growth", - "abnormal blood uric acid level", - "abnormal cellular_component", - "abnormal genitourinary system", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "Decreased anatomical entity mass density", - "Abnormal blood ion concentration", + "independent continuant", + "heteroorganic entity", + "organ", + "abnormal independent continuant sodium atom level", + "inorganic molecular entity", + "amino-acid betaine", + "quaternary nitrogen compound", + "main group element atom", + "Abnormality of acid-base homeostasis (HPO)", + "uric acid", + "potassium(1+)", + "abnormal cation homeostasis", + "metabolic process", + "increased bodily fluid role level", + "abnormal multicellular organism chemical entity level", + "Muscle weakness (HPO)", + "Abnormal circulating lipid concentration (HPO)", + "s-block molecular entity", + "Abnormality of the upper urinary tract (HPO)", + "material anatomical entity", + "Decreased multicellular organism mass", + "nephron", + "abnormal amino acid derivative level", + "Abnormality of metabolism/homeostasis (HPO)", + "Acidosis (HPO)", + "Growth abnormality (HPO)", + "skeletal element", + "peptide", + "thoracic segment of trunk", + "Abnormal urinary electrolyte concentration (HPO)", + "pnictogen molecular entity", + "phosphorus molecular entity", + "nitrogen compound metabolic process", + "abdominal segment of trunk", + "abnormal independent continuant oxygen molecular entity level", "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormal anatomical entity morphology in the independent continuant", - "Growth abnormality", - "decreased anatomical entity mass", - "Abnormal lung morphology", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "Decreased anatomical entity mass", - "phenotype by ontology source", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", + "oxoacid derivative", + "abnormal acid independent continuant level", + "Abnormal blood ion concentration (HPO)", + "kidney epithelium", + "Abnormal circulating fatty-acid anion concentration (HPO)", + "growth", + "abnormal blood glucose level", + "biological_process", + "protein-containing material entity", + "abnormal independent continuant phosphate level", + "Abnormal cellular physiology (HPO)", + "decreased level of purines", + "Abnormal homeostasis (HPO)", + "tube", + "increased level of chemical entity in independent continuant", "abnormal phosphate level", - "decreased level of chemical entity", - "decreased level of chemical entity in blood", - "Decreased body weight", - "Abnormality of the genitourinary system", - "abnormal amino-acid betaine level", - "abnormality of anatomical entity mass", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "abnormal chemical entity level", - "abnormal monocarboxylic acid metabolic process", + "abnormal urine hydrogencarbonate level", + "All (HPO)", + "organonitrogen compound metabolic process", + "genitourinary system", + "oxopurine", + "musculature", + "organic cyclic compound metabolic process", + "increased level of protein polypeptide chain in urine", + "abnormal role bodily fluid level", + "decreased muscle organ strength", + "Abnormality of the musculoskeletal system (HPO)", + "abnormal genitourinary system", + "main group molecular entity", + "inorganic ion homeostasis", + "Abnormal blood phosphate concentration (HPO)", + "material entity", + "entity", "abnormal renal system", - "abnormal small molecule metabolic process", - "Glycosuria", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormal blood phosphate concentration", - "Muscle weakness", - "delayed growth", - "abnormal purine nucleobase metabolic process", + "phenotype", + "polyatomic anion", + "Abnormality of the urinary system physiology (HPO)", + "gas molecular entity", "abnormal kidney", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "abnormal biological_process", - "abnormal role bodily fluid level", - "decreased level of phosphate in blood", - "Abnormality of urine bicarbonate level", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", - "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal enzyme concentration or activity", - "Increased susceptibility to fractures", - "Abnormal muscle physiology", - "Abnormal homeostasis", - "increased level of chemical entity in urine", - "abnormal cell", - "Abnormality of acid-base homeostasis", - "abnormal acid bodily fluid level", - "Abnormal circulating fatty-acid anion concentration", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", - "Abnormality of the kidney", - "decreased level of uric acid in blood", - "abnormal independent continuant glucose level", - "increased level of purines in independent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "Abnormal blood glucose concentration", - "Lacticaciduria", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormal urine sodium concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "Abnormal circulating metabolite concentration", - "abnormal urine sodium atom level", - "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", - "decreased level of amino-acid betaine", - "non-functional anatomical entity", - "abnormal sodium atom level", - "abnormal independent continuant sodium atom level", - "Abnormality of the mitochondrion", - "abnormal independent continuant monoatomic ion level", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "abnormal blood phosphate level", - "Hypophosphatemic rickets", - "decreased level of purines", - "Rickets", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abnormal primary metabolic process", - "increased level of nitrogen molecular entity in blood", - "abnormality of anatomical entity physiology", - "abnormal urine hydrogencarbonate level", + "Renal tubular dysfunction (HPO)", "abnormal urine uric acid level", - "abnormal respiratory system", - "abnormal cellular metabolic process", - "Abnormality of fluid regulation", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "abnormal nucleobase metabolic process", - "Hypouricemia", - "abnormal metabolic process", - "decreased role blood level", - "Hypokalemia", - "Decreased circulating purine concentration", + "bicyclic compound", + "Abnormal blood glucose concentration (HPO)", + "abnormal chemical entity level", + "Decreased anatomical entity mass", + "Abnormal urine phosphate concentration (HPO)", "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", - "increased level of nitrogen molecular entity in independent continuant", - "Hypophosphatemia", - "Abnormal circulating monocarboxylic acid concentration", - "increased level of chemical entity", - "Abnormal cellular physiology", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "abnormal carboxylic acid metabolic process", - "Abnormal blood monovalent inorganic cation concentration", - "abnormal glucose homeostasis", - "abnormal mitochondrion", - "abnormal carnitine metabolic process", - "abnormal amino acid derivative level", - "abnormal fatty acid metabolic process", - "abnormal cellular process", - "Abnormal circulating carnitine concentration", - "decreased level of chemical entity in independent continuant", - "Abnormality of mitochondrial metabolism", - "abnormal independent continuant uric acid level", - "abnormal blood carnitine level", - "abnormally decreased functionality of the nephron tubule", - "Abnormal cellular phenotype", - "Hypoglycemia", - "decreased level of carnitine in independent continuant", - "Abnormal urine potassium concentration", + "anatomical system", + "abnormal independent continuant chemical entity level", + "monoatomic cation homeostasis", + "Abnormal pulmonary interstitial morphology (HPO)", + "phosphoric acid derivative", + "urine", + "organism substance", + "nucleobase-containing small molecule metabolic process", + "multicellular anatomical structure", + "thoracic cavity element", + "abnormal phenotype by ontology source", + "quality", + "metal atom", + "multicellular organism", + "carnitine", + "oxoacid metabolic process", + "abnormal hematopoietic system", + "p-block molecular entity", + "abnormal urine phosphate level", + "abnormality of muscle organ physiology", "decreased size of the anatomical entity", - "increased level of potassium atom in urine", - "Constitutional symptom", - "abnormal blood potassium atom level", + "phosphate", + "tissue", + "molecular entity", "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium(1+) level", - "Abnormal blood potassium concentration", - "Abnormal blood cation concentration", - "abnormality of musculoskeletal system physiology", - "Pain", - "Hyperchloremic metabolic acidosis", - "abnormal hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "abnormal independent continuant hydrogencarbonate level", - "increased bodily fluid acid level", - "Bicarbonaturia", - "increased independent continuant base level", - "Increased urinary potassium", - "increased level of uric acid in independent continuant", - "abnormal independent continuant protein polypeptide chain level", + "Abnormal blood oxygen level (HPO)", + "abnormal blood uric acid level", + "Abnormal blood cation concentration (HPO)", + "musculature of body", + "Abnormality of fluid regulation (HPO)", + "organelle", + "abnormal glucose homeostasis", + "abdominal segment element", + "carbon oxoanion", + "abnormal bone element mass density", + "abnormal upper urinary tract", + "Abnormal glucose homeostasis (HPO)", + "abnormality of anatomical entity physiology", + "Decreased body weight (HPO)", + "cellular_component", + "muscle structure", + "chemical entity", + "Abnormality of mitochondrial metabolism (HPO)", + "anatomical entity", + "anatomical structure", + "small molecule metabolic process", + "renal system", + "abnormal anatomical entity", + "membrane-bounded organelle", + "racemate", + "trunk region element", ], - "has_phenotype_count": 39, + "has_phenotype_count": 38, "highlight": None, "score": None, }, diff --git a/backend/tests/fixtures/autocomplete_response.py b/backend/tests/fixtures/autocomplete_response.py index 232176d66..56d539946 100644 --- a/backend/tests/fixtures/autocomplete_response.py +++ b/backend/tests/fixtures/autocomplete_response.py @@ -26,10 +26,10 @@ def autocomplete_response(): { "id": "HP:0001994", "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", + "name": "Renal Fanconi syndrome (HPO)", "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", - "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], + "synonym": ["'de toni-fanconi-debre' syndrome", "Renal tubular fanconi syndrome"], "namespace": "HP", "has_phenotype_count": 0, }, @@ -94,976 +94,1551 @@ def autocomplete_response(): "HP:0003251", ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Anemic pallor", - "Renal agenesis", - "Absent radius", - "Pancytopenia", - "Cryptorchidism", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of skin pigmentation", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Anemia", - "Leukemia", - "Abnormal renal morphology", - "Duplicated collecting system", - "Horseshoe kidney", - "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Male infertility", + "Ectopic kidney (HPO)", + "Neutropenia (HPO)", + "Absent thumb (HPO)", + "Intellectual disability (HPO)", + "Microcephaly (HPO)", + "Abnormal heart morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Hypergonadotropic hypogonadism (HPO)", + "Anemic pallor (HPO)", + "Renal agenesis (HPO)", + "Absent radius (HPO)", + "Pancytopenia (HPO)", + "Cryptorchidism (HPO)", + "Thrombocytopenia (HPO)", + "Short thumb (HPO)", + "Reticulocytopenia (HPO)", + "Microphthalmia (HPO)", + "Small for gestational age (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Abnormality of skin pigmentation (HPO)", + "Complete duplication of thumb phalanx (HPO)", + "Bruising susceptibility (HPO)", + "Anemia (HPO)", + "Leukemia (HPO)", + "Abnormal renal morphology (HPO)", + "Duplicated collecting system (HPO)", + "Horseshoe kidney (HPO)", + "Short stature (HPO)", + "Strabismus (HPO)", + "Hearing impairment (HPO)", + "Prolonged G2 phase of cell cycle (HPO)", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Male infertility (HPO)", ], "has_phenotype_count": 33, "has_phenotype_closure": [ "HP:0000789", - "UPHENO:0049671", - "UPHENO:0051124", - "UPHENO:0049964", + "GO:0071704", + "GO:0006807", + "GO:0044238", + "GO:0051716", "HP:0003254", - "HP:0003214", + "UPHENO:0049671", + "GO:0090304", + "GO:0006974", + "GO:0006725", + "GO:0034641", + "GO:0022403", + "GO:0022402", "UPHENO:0049952", - "HP:0000598", - "UPHENO:0052231", + "GO:0051319", + "GO:0051325", + "HP:0011018", + "HP:0003214", + "GO:0046483", + "GO:0007605", + "UPHENO:0002240", + "UPHENO:0052970", + "HP:0031704", "UPHENO:0005518", - "HP:0000365", - "HP:0012373", + "UBERON:0001690", + "UBERON:0002105", + "BFO:0000141", + "HP:0000496", + "UPHENO:0049622", "UPHENO:0049586", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0000549", + "NBO:0000338", "UPHENO:0079828", - "UPHENO:0000543", + "NBO:0000001", + "UBERON:0000015", "UPHENO:0080352", - "UPHENO:0081424", - "UPHENO:0082129", - "UPHENO:0041821", "UPHENO:0080351", + "UPHENO:0079826", + "UPHENO:0080300", + "UPHENO:0082129", + "UPHENO:0019487", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0041075", + "UBERON:0004100", "HP:0004742", - "UPHENO:0052970", - "UPHENO:0075787", - "HP:0011793", - "HP:0000978", - "HP:0003213", + "HP:0004377", + "HP:0002664", + "UBERON:0000477", + "MPATH:105", + "UBERON:0002049", + "MPATH:603", "UPHENO:0051097", - "HP:0011025", - "UPHENO:0080581", - "HP:0011028", - "HP:0005918", - "UPHENO:0082444", - "UPHENO:0020041", - "UPHENO:0084447", - "HP:0004275", + "HP:0001933", + "GO:0008015", + "GO:0003013", + "UBERON:0007798", + "UPHENO:0002678", "HP:0009942", - "HP:0011018", - "HP:0011314", - "HP:0009998", - "UPHENO:0050116", + "HP:0004275", + "GO:0031049", + "GO:0050789", + "GO:0071840", + "UPHENO:0049873", + "GO:0010558", "HP:0001939", - "HP:0011017", - "UPHENO:0050021", - "UPHENO:0049990", - "HP:0003220", - "UPHENO:0049748", - "HP:0002664", - "UPHENO:0078606", - "HP:0003221", - "HP:0004377", - "UPHENO:0050845", - "UPHENO:0010763", + "UPHENO:0049700", + "HP:0040012", + "GO:0060255", + "GO:0009892", + "GO:0043933", + "GO:0008152", + "GO:0009987", + "HP:0012041", + "UPHENO:0050113", + "UPHENO:0050121", + "UBERON:0010222", + "MPATH:1000", + "GO:0010556", + "GO:0016043", + "GO:0009890", + "GO:0010605", + "GO:0031324", + "GO:0019222", + "GO:0040029", + "GO:0044848", + "GO:0006338", "HP:0004325", - "HP:0004323", + "UPHENO:0082444", + "UPHENO:0054261", + "UPHENO:0010763", + "GO:0040007", + "UPHENO:0082794", + "HP:0000144", "UPHENO:0082761", - "UPHENO:0010795", - "HP:0001507", - "HP:0001518", - "HP:0002597", - "UPHENO:0049874", - "UPHENO:0054299", + "HP:0011017", + "UBERON:0010230", "HP:0000271", - "HP:0000002", - "UPHENO:0069523", - "UPHENO:0002910", - "UPHENO:0003020", + 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"UPHENO:0080126", + "BFO:0000015", + "UPHENO:0080079", + "HP:0009825", + "UPHENO:0015280", + "UBERON:0004120", + "UPHENO:0041226", + "UPHENO:0046707", + "UPHENO:0026506", "UPHENO:0002635", - "HP:0001574", - "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0088170", - "UPHENO:0087907", - "HP:0006501", - "UPHENO:0002844", - "UPHENO:0049587", + "UPHENO:0076723", + "CL:0000000", + "UBERON:0000062", + "UBERON:0010314", + "CL:0000003", + "HP:0011793", + "CL:0002371", + "HP:0000032", + "UBERON:0004288", + "UBERON:0003620", + "UBERON:5102389", + "HP:0010974", + "HP:0003213", + "HP:0002715", + "UPHENO:0081423", + "HP:0001909", + "UPHENO:0003020", + "UBERON:0010712", + "UBERON:0005173", + "HP:0011893", + "UBERON:0005178", + "CL:0000081", + "UBERON:0002101", + "UBERON:0009569", + "HP:0032251", + "UBERON:0011143", + "UBERON:0013701", + "HP:0010987", + "HP:0000486", + "UPHENO:0004459", + "UBERON:0012151", + "HP:0004322", + "GO:0010629", + "HP:0001627", + "UBERON:0005055", "HP:0000815", - "HP:0008373", - "UPHENO:0066972", - "UPHENO:0024906", - "UPHENO:0087369", - "UPHENO:0085195", - "HP:0000135", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0085354", + "UBERON:0010741", + "HP:0000818", + "CL:0000255", + "HP:0032309", + "CL:0000763", + "MPATH:119", + "UBERON:0000061", + "UBERON:0011818", + "CL:0000738", + "UBERON:0015061", + "GO:0008150", + "HP:0002813", + "UBERON:0006058", + "UPHENO:0050625", "UPHENO:0066927", - "HP:0000080", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "HP:0000953", - "UPHENO:0088162", - "HP:0000980", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", - "HP:0012130", - "UPHENO:0050113", - "HP:0000104", - "UPHENO:0002219", - "HP:0000957", - "HP:0009823", + "UPHENO:0074589", + "UPHENO:0052178", + "NCBITaxon:2759", + "UBERON:0000468", + "UBERON:0000489", + "CL:0000094", + "GO:0071824", + "UPHENO:0002642", + "GO:1901360", + "HP:0011873", + "HP:0005930", + "UPHENO:0053580", + "GO:0009889", + "CL:0000219", + "HP:0025354", + "UBERON:0011137", + "UBERON:0002104", + "HP:0001875", + "HP:0011314", + "UPHENO:0002880", + "UBERON:0000467", + "HP:0000002", + "HP:0001017", + "HP:0011842", + "UBERON:0002193", + "HP:0040064", + "HP:0000978", + "UBERON:0002405", + "UBERON:5001463", + "UPHENO:0068971", + "UBERON:0003103", + "HP:0001911", + "UBERON:0004375", + "UBERON:0004088", + "HP:0001626", + "UPHENO:0075159", + "UBERON:0034944", + "UBERON:0012354", + "HP:0000365", + "HP:0012210", + "HP:0020047", + "UBERON:0000020", + "UPHENO:0076799", + "UBERON:0000465", + "HP:0003221", + "BFO:0000004", + "BFO:0000020", "HP:0000085", - "HP:0003953", - "HP:0012874", - "HP:0009825", + "UBERON:0019221", + "HP:0001510", + "HP:0011355", + "HP:0100542", + "HP:0001903", + "UPHENO:0076779", + "UBERON:0006048", + "HP:0000364", + "UPHENO:0020832", + "UBERON:0005897", + "BFO:0000040", + "UBERON:0011676", + "UBERON:0000075", + "UBERON:0010688", + "MPATH:120", + "GO:0043473", + "UPHENO:0052778", + "UPHENO:0079872", + "UBERON:0002417", + "UPHENO:0075902", + "HP:0000001", + "GO:0007049", + "UBERON:0010000", + "HP:0001507", + "HP:0001871", "HP:0009822", - "UPHENO:0087510", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0006503", - "HP:0002818", + "UBERON:0010538", + "UBERON:0015203", + "UBERON:5006048", + "UPHENO:0001001", + "GO:0050896", + "UBERON:0000475", + "HP:0001000", + "HP:0012130", + "UBERON:0005881", + "UPHENO:0081424", + "UPHENO:0074572", + "UBERON:8450002", + "UPHENO:0081755", + "UPHENO:0020651", + "UPHENO:0020220", + "HP:0000081", + "GO:0050877", + "NCBITaxon:33208", + "UPHENO:0027515", + "UPHENO:0049588", + "GO:0031052", + "UBERON:0013702", + "UBERON:0000916", + "HP:0000028", + "UBERON:0015212", + "UPHENO:0050620", + "UBERON:0004122", + "UBERON:0011216", + "CL:0002422", + "UBERON:0001062", + "MPATH:0", + "UBERON:0007272", + "UPHENO:0002406", + "BFO:0000001", + "HP:0003220", + "UBERON:0000026", + "UBERON:0000463", + "CL:0000225", + "UPHENO:0001003", + "HP:0009142", + "UPHENO:0001002", ], "has_phenotype_closure_label": [ - "Infertility", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Hearing impairment", - "Hearing abnormality", - "Abnormality of the ear", - "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal cellular response to DNA damage stimulus", + "DNA metabolic process", + "response to stimulus", + "abnormal DNA repair", + "Abnormality of DNA repair (HPO)", + "nucleic acid metabolic process", + "DNA damage response", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "heterocycle metabolic process", + "organic substance metabolic process", + "Decreased fertility in males (HPO)", + "primary metabolic process", + "cellular metabolic process", + "cellular response to stimulus", + "Abnormality of the cell cycle (HPO)", + "biological phase", + "Prolonged G2 phase of cell cycle (HPO)", + "cell cycle phase", + "cell cycle process", + "Abnormal ear physiology (HPO)", + "sensory perception of mechanical stimulus", + "abnormal sensory perception", "abnormality of ear physiology", - "Abnormal eye physiology", - "abnormal behavior process", + "decreased qualitatively sensory perception of sound", + "decreased sensory perception of sound", + "Hearing impairment (HPO)", + "ear", + "immaterial entity", "abnormal behavior", - "Abnormal conjugate eye movement", - "Atypical behavior", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Abnormality of body height", - "Growth delay", - "decreased size of the multicellular organism", + "eye movement", + "abnormal response to stimulus", + "kinesthetic behavior", + "behavior process", + "abnormality of camera-type eye physiology", + "anatomical line", + "abnormal behavior process", + "Strabismus (HPO)", + "abnormal size of multicellular organism", "delayed biological_process", - "shape anatomical entity in independent continuant", - "3-D shape anatomical entity", - "concave 3-D shape anatomical entity", - "abnormal renal collecting system", + "decreased size of the multicellular organism", "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm by anatomical site", - "Neoplasm", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", - "abnormal vasculature", - "Vascular skin abnormality", - "Internal hemorrhage", - "Complete duplication of thumb phalanx", - "Male infertility", - "Duplication of thumb phalanx", - "Duplication of bones involving the upper extremities", + "cellular aromatic compound metabolic process", + "delayed growth", + "concave 3-D shape anatomical entity", + "abnormal shape of continuant", + "shape anatomical entity in independent continuant", "shape kidney", - "Duplication of phalanx of hand", - "Duplication of hand bones", - "Abnormality of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "abnormal cellular process", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", + "Duplicated collecting system (HPO)", + "Leukemia (HPO)", + "Hematological neoplasm (HPO)", + "vasculature", + "Abnormality of the vasculature (HPO)", + "Vascular skin abnormality (HPO)", + "pathological phenotype observation", + "Abnormal bleeding (HPO)", + "abnormality of multicellular organism height", + "Internal hemorrhage (HPO)", + "Bruising susceptibility (HPO)", + "cellular nitrogen compound metabolic process", + "Subcutaneous hemorrhage (HPO)", + "abnormality of cardiovascular system physiology", + "Abnormal cardiovascular system physiology (HPO)", + "circulatory system process", + "abnormal vasculature", + "Duplication of hand bones (HPO)", + "Duplication of phalanx of hand (HPO)", + "Abnormal cellular physiology (HPO)", + "Abnormality of metabolism/homeostasis (HPO)", + "negative regulation of macromolecule metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "regulation of cellular process", + "negative regulation of biological process", + "negative regulation of gene expression", + "metabolic process", + "cellular process", "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Small for gestational age", - "Decreased anatomical entity mass", - "abnormality of anatomical entity mass", + "Chromosome breakage (HPO)", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "abnormal cellular process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "protein-containing complex organization", + "response to stress", + "cellular component organization", + "regulation of biological process", + "growth", + "Growth abnormality (HPO)", "decreased multicellular organism mass", - "Decreased multicellular organism mass", - "Abnormality of body weight", - "abnormality of multicellular organism mass", - "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face", - "Abnormality of the orbital region", - "abnormal face morphology", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "Abnormal reticulocyte morphology", - "decreased length of digit", - "Short finger", - "decreased length of manual digit 1", - "Short digit", - "decreased length of anatomical entity in independent continuant", + "Abnormality of thumb phalanx (HPO)", + "Decreased body weight (HPO)", + "entire sense organ system", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "Microphthalmia (HPO)", + "Abnormal eye morphology (HPO)", + "simple eye", + "visual system", + "eye", + "orbital region", + "negative regulation of metabolic process", + "abnormal camera-type eye morphology", + "face", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of the face (HPO)", + "Short stature (HPO)", + "camera-type eye", + "Neoplasm (HPO)", + "Abnormality of globe size (HPO)", + "Abnormality of the eye (HPO)", + "Reticulocytopenia (HPO)", + "decreased size of the anatomical entity in the pectoral complex", "decreased length of manual digit", - "decreased size of the anatomical entity", + "decreased length of digit", + "Short thumb (HPO)", "decreased size of the anatomical entity in the independent continuant", - "abnormally localised testis", + "decreased size of the anatomical entity", + "decreased length of manual digit 1", + "sensory perception", "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal response to stress", - "decreased developmental process", - "Abnormal external genitalia", + "male organism", + "abnormal reproductive process", + "decreased qualitatively developmental process", "decreased qualitatively reproductive process", + "decreased qualitatively biological_process", + "Complete duplication of thumb phalanx (HPO)", + "Abnormality of chromosome stability (HPO)", "abnormal multicellular organismal reproductive process", - "Abnormal male reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormality of internal male genitalia physiology", - "abnormal spermatogenesis", - "Abnormal testis morphology", - "Cryptorchidism", - "abnormal testis morphology", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", - "abnormality of male reproductive system physiology", + "Abnormality of blood circulation (HPO)", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "external male genitalia", + "Abnormal testis morphology (HPO)", "abnormal developmental process", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "abnormal male reproductive system morphology", - "absent gamete", - "abnormal reproductive process", - "Decreased body weight", - "decreased qualitatively developmental process", - "Abnormal internal genitalia", - "absent sperm in the independent continuant", - "changed developmental process rate", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "external genitalia", + "anatomical cluster", + "internal genitalia", + "abnormal reproductive system morphology", + "semen", + "Abnormal spermatogenesis (HPO)", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal developmental process involved in reproduction", + "abnormality of male reproductive system physiology", + "abnormally localised testis", + "abnormal external male genitalia", + "abnormal male reproductive system", + "abnormal gamete generation", + "abnormality of internal male genitalia physiology", + "Pancytopenia (HPO)", + "sexual reproduction", + "anucleate cell", "abnormal male reproductive organ morphology", - "Abnormality of male external genitalia", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "Pancytopenia", - "abnormal platelet", - "abnormal bone marrow cell morphology", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "abnormal forelimb morphology", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", + "bone marrow", + "secretory cell", + "abnormal orbital region", + "bone marrow cell", + "Hearing abnormality (HPO)", + "platelet", + "biogenic amine secreting cell", + "decreased biological_process", + "serotonin secreting cell", + "germ line cell", + "bone cell", + "Abnormality of thrombocytes (HPO)", + "decreased developmental process", + "Absent radius (HPO)", + "sperm", + "Aplasia/Hypoplasia of the radius (HPO)", + "Aplasia involving bones of the extremities (HPO)", + "Abnormality of forearm bone (HPO)", + "Decreased multicellular organism mass", + "Aplasia involving bones of the upper limbs (HPO)", + "absent radius bone in the independent continuant", + "forelimb zeugopod skeleton", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "zeugopod", + "radius endochondral element", + "arm bone", + "radius bone", + "absent forelimb zeugopod bone", + "body part movement", + "absent radius bone in the forelimb", + "absent radius bone", + "Complete duplication of phalanx of hand (HPO)", + "Absent forearm bone (HPO)", + "abnormal forelimb zeugopod", + "absent kidney", + "male gamete generation", + "zeugopodial skeleton", + "Renal agenesis (HPO)", + "non-material anatomical boundary", + "Renal hypoplasia/aplasia (HPO)", + "oxygen accumulating cell", + "Pallor (HPO)", + "Abnormality of the genital system (HPO)", + "nitrogen compound metabolic process", + "abnormal sensory perception of sound", + "abnormal testis morphology", + "reproductive system", + "Puberty and gonadal disorders (HPO)", + "changed developmental process rate", + "neutrophil", + "Hypergonadotropic hypogonadism (HPO)", + "glandular system", + "aplastic forelimb zeugopod bone", + "Abnormality of the endocrine system (HPO)", + "manual digit plus metapodial segment", + "Hypogonadism (HPO)", + "abnormal endocrine system", + "reproductive organ", + "digit 1 digitopodial skeleton", + "gonad", + "Abnormal reticulocyte morphology (HPO)", + "animal cell", + "regional part of brain", + "abnormality of reproductive system physiology", + "eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "increased qualitatively biological_process in independent continuant", + "Macule (HPO)", + "abnormal growth", + "Abnormal internal genitalia (HPO)", + "increased biological_process in skin of body", + "abnormal skin of body morphology", + "multicellular organismal reproductive process", + "Abnormal cell morphology (HPO)", + "Abnormality of the integument (HPO)", + "viscus", + "integumental system", + "abnormal eyeball of camera-type eye", + "abnormal pigmentation in independent continuant", + "Abnormality of the orbital region (HPO)", + "erythrocyte", + "abnormal limb bone morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Abnormality of reproductive system physiology (HPO)", + "increased qualitatively biological_process", + "reticulocyte", + "abnormal central nervous system morphology", + "increased biological_process", + "abnormal metabolic process", + "changed biological_process rate", + "Irregular hyperpigmentation (HPO)", + "absent anatomical entity in the forelimb", + "abnormal skin of body", + "abnormal integument", + "Abnormal renal collecting system morphology (HPO)", + "sense organ", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "circulatory system", + "Abnormality of the cardiovascular system (HPO)", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "head", + "Hyperpigmentation of the skin (HPO)", + "cardiovascular system", + "abnormal cardiovascular system morphology", + "circulatory organ", + "primary circulatory organ", + "vascular system", + "thoracic segment of trunk", + "thoracic segment organ", + "upper limb segment", + "Morphological central nervous system abnormality (HPO)", + "heart", + "abnormal cardiovascular system", + "abnormal anatomical entity morphology in the brain", + "manual digit 1 plus metapodial segment", + "telencephalon", + "Opisthokonta", + "absent anatomical entity", + "central nervous system", + "structure with developmental contribution from neural crest", + "abnormal brain morphology", + "aplasia or hypoplasia of telencephalon", + "Azoospermia (HPO)", + "cranial skeletal system", + "organism", + "Localized skin lesion (HPO)", + "abnormal skull morphology", + "body proper", + "Abnormal renal morphology (HPO)", + "nervous system process", + "Abnormal axial skeleton morphology (HPO)", + "abnormal size of anatomical entity", + "shape anatomical entity", + "digit 1", + "regional part of nervous system", + "abnormal head", + "multicellular organism reproduction", + "Metazoa", + "axial skeleton plus cranial skeleton", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "Abnormal skull morphology (HPO)", + "decreased height of the multicellular organism", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "reproductive process", + "abnormal pigmentation", + "Neoplasm by anatomical site (HPO)", + "phalanx", + "Abnormality of head or neck (HPO)", + "root", + "Abnormality of the ear (HPO)", + "protein-containing material entity", + "subdivision of skeleton", + "biological_process", + "system process", + "Intellectual disability (HPO)", + "multicellular organismal process", + "Abnormal eye physiology (HPO)", + "Neurodevelopmental abnormality (HPO)", + "pigmentation", + "Abnormality of mental function", + "Abnormality of the nervous system (HPO)", + "cognition", + "aplasia or hypoplasia of radius bone", + "main body axis", + "cellular organisms", + "skin of body", + "abnormal biological_process", + "multi-tissue structure", + "organ system subdivision", + "Phenotypic abnormality (HPO)", + "process", + "absent epiphysis of phalanx of manus in the independent continuant", + "abnormality of anatomical entity physiology", + "skeletal element", + "abnormal DNA metabolic process", + "forelimb", + "Abnormal erythroid lineage cell morphology (HPO)", + "abnormal kidney", + "acropodial skeleton", + "abnormal arm", + "Microcephaly (HPO)", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "Anemic pallor (HPO)", + "abnormal bone of pectoral complex morphology", + "Abnormal conjugate eye movement (HPO)", + "system", + "Abnormal hand morphology (HPO)", + "trunk region element", + "pectoral complex", + "abnormal spermatogenesis", + "germ cell", + "segment of manus", "abnormal anatomical entity morphology in the independent continuant", - "Abnormal neutrophil count", - "abnormal sensory perception", - "abnormal manus", - "abnormal manus morphology", - "Abnormality of limb bone", + "digit 1 or 5", + "absent manual digit", + "G2 phase", + "manual digitopodium region", + "gamete", + "organ part", + "cell cycle", + "male reproductive organ", + "reproductive structure", + "manual digit 1 or 5", + "abnormal reproductive system", + "absent epiphysis of phalanx of manus in the phalanx of manus", "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "agenesis of anatomical entity", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of the cell cycle", + "abnormal epiphysis morphology in the independent continuant", + "phenotype", "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Short thumb", - "abnormal manual digit 1 morphology", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", + "abnormal manus", + "absent anatomical entity in the phalanx of manus", + "Generalized abnormality of skin (HPO)", + "Abnormality of bone marrow cell morphology (HPO)", + "zone of long bone", + "arm", + "long bone", + "Thrombocytopenia (HPO)", + "Abnormality of forebrain morphology (HPO)", + "bone of appendage girdle complex", + "Horseshoe kidney (HPO)", + "abnormal postcranial axial skeleton morphology", + "aplasia or hypoplasia of manual digit 1", + "skeleton of manus", + "nervous system", + "skeleton of limb", + "vestibulo-auditory system", + "forelimb endochondral element", + "increased biological_process in independent continuant", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "abnormal response to stress", + "epiphysis of phalanx of manus", + "Abnormality of brain morphology (HPO)", + "chromatin remodeling", + "absent kidney in the independent continuant", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", + "abnormal digit", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", + "abnormal cellular metabolic process", + "acropodium region", + "increased pigmentation in skin of body", + "manual digit 1", + "abnormal radius bone", + "digit plus metapodial segment", + "Abnormal digit morphology (HPO)", + "multi-limb segment region", + "immaterial anatomical entity", + "blood circulation", + "Abnormal reproductive system morphology (HPO)", + "endochondral element", + "subdivision of trunk", + "abdomen element", + "Hypermelanotic macule (HPO)", + "abnormal anatomical entity morphology in the pectoral complex", + "endocrine system", + "skull", + "digit 1 plus metapodial segment", + "trunk", + "multicellular anatomical structure", + "autopodial skeleton", + "abnormal anatomical entity morphology in the skeleton of manus", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Cryptorchidism (HPO)", + "Abnormal immune system morphology (HPO)", + "decreased spermatogenesis", + "manual digit bone", + "decreased anatomical entity mass", + "anatomical entity dysfunction in independent continuant", + "increased pigmentation", + "DNA repair", + "abnormal renal collecting system", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "immune system", + "Abnormal cellular immune system morphology (HPO)", + "myeloid cell", + "abnormal phalanx morphology", + "forelimb bone", + "interphase", + "obsolete cell", + "Abnormal erythrocyte morphology (HPO)", + "epiphysis", + "cavitated compound organ", + "Abnormal heart morphology (HPO)", + "abnormally localised anatomical entity in independent continuant", + "musculoskeletal system", + "Abnormality of limb epiphysis morphology (HPO)", + "compound organ", + "autopod region", + "upper urinary tract", + "abnormally decreased functionality of the anatomical entity", + "skeletal system", + "U-shaped anatomical entity", + "manual digit 1 phalanx endochondral element", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "chromatin organization", + "sensory system", + "manual digit 1 phalanx", + "abnormal upper urinary tract", + "macromolecule metabolic process", + "bone of pectoral complex", + "superficial fascia", + "abnormal skeletal system morphology", + "manual digitopodium bone", + "abnormal craniocervical region", + "Abnormal myeloid leukocyte morphology (HPO)", + "Abnormal upper limb bone morphology (HPO)", + "phalanx endochondral element", + "limb skeleton subdivision", + "hemolymphoid system", + "Decreased anatomical entity mass", + "Abnormal appendicular skeleton morphology (HPO)", + "mesoderm-derived structure", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "Abnormal skeletal morphology (HPO)", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", + "abnormal external genitalia", + "abnormal heart morphology", + "limb long bone", + "decreased length of anatomical entity in independent continuant", + "autopod endochondral element", + "phalanx of manus", + "autopod bone", + "manual digit 1 digitopodial skeleton", + "abnormal eye movement", + "subdivision of organism along appendicular axis", + "absent manual digit 1", + "gamete generation", + "Abnormality of skin morphology (HPO)", + "absent anatomical entity in the limb", + "zone of bone organ", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "motile cell", + "paired limb/fin", + "sensory perception of sound", + "abnormal phalanx of manus morphology", + "abnormal size of eyeball of camera-type eye", + "abnormal face", + "aplastic anatomical entity", + "abnormal biological_process in independent continuant", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "abnormality of multicellular organism mass", + "Short finger (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "eukaryotic cell", + "subdivision of head", + "Abnormality of epiphysis morphology (HPO)", + "Decreased fertility (HPO)", + "integument", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of limb bone morphology (HPO)", + "Abnormality of the hand (HPO)", + "abnormal cell cycle", "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", + "abdominal segment element", + "absent digit", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "abnormal manus morphology", + "cell", "phenotype by ontology source", - "Abnormal finger phalanx morphology", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "forelimb long bone", + "heart plus pericardium", + "skeleton", + "manus bone", + "absent kidney in the renal system", + "Abnormal leukocyte morphology (HPO)", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "Abnormal platelet count (HPO)", + "abnormal manual digit 1 morphology", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "regulation of macromolecule metabolic process", "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal cellular phenotype", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormally decreased number of neutrophil", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", + "continuant", + "Small for gestational age (HPO)", + "Abnormal nervous system physiology (HPO)", + "appendage", + "Abnormality of cardiovascular system morphology (HPO)", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "abnormal epiphysis of phalanx of manus morphology", + "abnormal cellular component organization", + "appendicular skeletal system", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "anatomical collection", + "internal male genitalia", + "occurrent", + "axial skeletal system", + "skeleton of manual digitopodium", + "cellular response to stress", + "absent anatomical entity in the independent continuant", + "autopodial extension", + "absent anatomical entity in the multicellular organism", + "anterior region of body", + "abnormal nervous system", + "male germ cell", + "lateral structure", + "limb", + "endochondral bone", + "absent epiphysis in the independent continuant", + "absent epiphysis", + "Abnormality of thumb epiphysis (HPO)", + "brain", + "increased pigmentation in independent continuant", + "Absent epiphyses of the thumb (HPO)", + "Growth delay (HPO)", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "abnormally decreased functionality of the gonad", + "abnormal limb bone", + "granulocyte", + "Abnormality of the upper urinary tract (HPO)", + "Anemia (HPO)", + "Abnormal thumb morphology (HPO)", + "Absent thumb (HPO)", + "abnormal blood circulation", + "bone of free limb or fin", + "decreased qualitatively sensory perception of mechanical stimulus", + "Aplasia involving forearm bones (HPO)", + "native cell", + "paired limb/fin segment", + "absent anatomical entity in the skeletal system", + "Short digit (HPO)", + "abnormal limb long bone morphology", + "manual digit", + "Abnormal granulocyte count (HPO)", + "Abnormality of the forearm (HPO)", + "postcranial axial skeleton", + "Abnormality of the immune system (HPO)", + "pectoral appendage skeleton", + "nucleate cell", + "skeleton of manual acropodium", + "excretory system", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Abnormality of eye movement (HPO)", + "decreased size of the eyeball of camera-type eye", + "appendage girdle complex", + "Abnormal myeloid cell morphology (HPO)", + "Abnormality of neutrophils (HPO)", + "agenesis of anatomical entity", + "abnormal renal system", + "epigenetic regulation of gene expression", + "abnormally localised kidney", + "Cafe-au-lait spot (HPO)", + "abnormal size of skull", + "Neutropenia (HPO)", + "hematopoietic cell", + "Abnormal granulocyte morphology (HPO)", + "abnormal forelimb zeugopod bone", + "Decreased head circumference (HPO)", + "disconnected anatomical group", + "hematopoietic system", "abnormal forebrain morphology", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal radius bone morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Abnormal cellular immune system morphology", - "abnormal brain morphology", - "decreased spermatogenesis", + "digitopodium region", + "Abnormal neutrophil count (HPO)", + "Male infertility (HPO)", + "abnormal immune system", + "Abnormal external genitalia (HPO)", + "Abnormality of the kidney (HPO)", + "protein-DNA complex organization", + "organ", + "programmed DNA elimination by chromosome breakage", + "organism subdivision", + "Behavioral abnormality (HPO)", + "developmental process involved in reproduction", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "abnormal multicellular organism morphology", + "Infertility (HPO)", "abnormal kidney morphology", - "Abnormality of the genital system", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "Duplication of bones involving the upper extremities (HPO)", + "All (HPO)", + "behavior", + "erythroid lineage cell", + "blood cell", + "abnormal epiphysis morphology in the skeleton of manus", "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal cellular physiology", + "material anatomical entity", + "material entity", "abnormality of nervous system physiology", - "Abnormality of skull size", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Abnormal upper limb bone morphology", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", - "absent digit", - "Absent forearm bone", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "organism substance", + "Abnormal leukocyte count (HPO)", + "pectoral appendage", + "multicellular organism", + "abnormal location of anatomical entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "abnormal long bone morphology", + "entity", + "aplasia or hypoplasia of anatomical entity", + "enucleated reticulocyte", + "forelimb zeugopod bone", "quality", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal digit", - "abnormally localised anatomical entity in independent continuant", + "3-D shape anatomical entity in independent continuant", + "anatomical system", + "abnormal anatomical entity morphology", + "Duplication of thumb phalanx (HPO)", + "appendicular skeleton", + "abdomen", + "male reproductive system", + "limb bone", + "leukocyte", + "renal collecting system", + "Cognitive impairment (HPO)", + "zone of organ", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", "abnormal limb", - "abnormal cell", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "absent manual digit", - "abnormal phenotype by ontology source", - "abnormal genitourinary system", - "Abnormal appendicular skeleton morphology", + "tissue", + "Abnormality of skin pigmentation (HPO)", + "anatomical structure", + "renal system", + "epiphysis of phalanx", + "myeloid leukocyte", + "non-connected functional system", "abnormally localised anatomical entity", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormality of the upper urinary tract", - "absent forelimb zeugopod bone", - "abnormal renal system", - "abnormal anatomical entity topology in independent continuant", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormally decreased number of cell in the independent continuant", - "Neutropenia", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Decreased fertility in males", - "abnormal neutrophil", - "Abnormality of the skin", - "abnormal granulocyte morphology", - "Abnormal leukocyte count", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of leukocyte in the independent continuant", - "continuant", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "Abnormality of brain morphology", - "abnormal immune system", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "abnormal limb bone morphology", - "absent anatomical entity", - "abnormal limb morphology", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", + "anatomical line between pupils", + "Abnormal localization of kidney (HPO)", + "male gamete", + "ectoderm-derived structure", "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormality of the head", - "abnormal bone marrow cell", - "Anemia", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Decreased head circumference", - "abnormal external genitalia", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "decreased anatomical entity mass", - "abnormal long bone morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", "abnormal nervous system morphology", - "abnormal telencephalon morphology", - "abnormal size of skull", - "Abnormal skull morphology", - "absent radius bone in the independent continuant", - "abnormal DNA damage response", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormal morphology of the radius", - "Morphological central nervous system abnormality", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", - "delayed growth", - "abnormal cardiovascular system", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "abnormal integument", - "abnormal biological_process", - "Macule", - "Cafe-au-lait spot", - "increased pigmentation in skin of body", - "abnormal pigmentation", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "increased pigmentation", - "increased pigmentation in independent continuant", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased qualitatively biological_process in independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Aplasia of the fingers", - "Hypergonadotropic hypogonadism", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the endocrine system", - "Hypogonadism", - "Decreased fertility", - "Abnormality of reproductive system physiology", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", - "absent kidney in the independent continuant", - "Anemic pallor", - "abnormal hematopoietic system", - "Renal agenesis", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", + "abnormality of anatomical entity mass", + "bone element", + "kidney", + "individual digit of digitopodial skeleton", + "abnormal internal genitalia", + "somatic cell", + "Abnormal platelet morphology (HPO)", + "Abnormal cerebral morphology (HPO)", + "testis", + "craniocervical region", + "Abnormality of upper limb epiphysis morphology (HPO)", + "3-D shape anatomical entity", + "Abnormal cellular phenotype (HPO)", + "cellular component organization or biogenesis", + "abnormal digit morphology", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the manus", + "Abnormal nervous system morphology (HPO)", + "Abnormality of skull size (HPO)", "absent anatomical entity in the renal system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "increased qualitatively biological_process", - "All", - "Aplasia involving bones of the extremities", - "abnormal cellular metabolic process", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "absent radius bone in the forelimb", - "abnormal forelimb zeugopod bone", - "absent anatomical entity in the skeletal system", - "Aplasia involving bones of the upper limbs", - "abnormal limb long bone morphology", - "absent radius bone", - "Aplasia/Hypoplasia of the radius", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", - "Absent radius", - "Aplasia/hypoplasia involving forearm bones", + "abnormal hematopoietic system", + "subdivision of organism along main body axis", + "aplasia or hypoplasia of skeleton", + "abnormal cellular response to stress", + "independent continuant", + "limb endochondral element", + "anatomical entity", + "thoracic cavity element", + "abnormal phenotype by ontology source", + "Abnormality of the skin (HPO)", + "reproduction", + "Abnormality of limbs (HPO)", + "abnormal telencephalon morphology", + "Ectopic kidney (HPO)", ], }, { @@ -1090,23 +1665,18 @@ def autocomplete_response(): "HP:0040012", "HP:0007018", "HP:0000582", - "HP:0000470", "HP:0008551", "HP:0009777", "HP:0004590", "HP:0002575", "HP:0000238", + "HP:0000470", "HP:0000369", "HP:0000465", "HP:0000957", "HP:0002023", - "HP:0001510", "HP:0000316", - "HP:0001903", - "HP:0000568", - "HP:0000431", - "HP:0005528", - "HP:0000089", + "HP:0001510", "HP:0001776", "HP:0000347", "HP:0003974", @@ -1121,1093 +1691,1869 @@ def autocomplete_response(): "HP:0000175", "HP:0000054", "HP:0000437", + "HP:0001903", "HP:0000122", "HP:0002188", + "HP:0000568", + "HP:0000431", + "HP:0005528", + "HP:0000089", ], "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", - "Upslanted palpebral fissure", - "Short neck", - "Microtia", - "Absent thumb", - "Hypoplastic sacrum", - "Tracheoesophageal fistula", - "Hydrocephalus", - "Low-set ears", - "Webbed neck", - "Cafe-au-lait spot", - "Anal atresia", - "Growth delay", - "Hypertelorism", - "Anemia", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", - "Renal hypoplasia", - "Bilateral talipes equinovarus", - "Micrognathia", - "Absent radius", - "Intrauterine growth retardation", - "Anotia", - "Aplasia of the uterus", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Esophageal atresia", - "Feeding difficulties", - "Cerebellar hypoplasia", - "Cleft palate", - "Micropenis", - "Depressed nasal tip", - "Unilateral renal agenesis", - "Delayed CNS myelination", + "Chromosome breakage (HPO)", + "Attention deficit hyperactivity disorder (HPO)", + "Upslanted palpebral fissure (HPO)", + "Microtia (HPO)", + "Absent thumb (HPO)", + "Hypoplastic sacrum (HPO)", + "Tracheoesophageal fistula (HPO)", + "Hydrocephalus (HPO)", + "Short neck (HPO)", + "Low-set ears (HPO)", + "Webbed neck (HPO)", + "Cafe-au-lait spot (HPO)", + "Anal atresia (HPO)", + "Hypertelorism (HPO)", + "Growth delay (HPO)", + "Bilateral talipes equinovarus (HPO)", + "Micrognathia (HPO)", + "Absent radius (HPO)", + "Intrauterine growth retardation (HPO)", + "Anotia (HPO)", + "Aplasia of the uterus (HPO)", + "Global developmental delay (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Esophageal atresia (HPO)", + "Feeding difficulties (HPO)", + "Cerebellar hypoplasia (HPO)", + "Cleft palate (HPO)", + "Micropenis (HPO)", + "Depressed nasal tip (HPO)", + "Anemia (HPO)", + "Unilateral renal agenesis (HPO)", + "Delayed CNS myelination (HPO)", + "Microphthalmia (HPO)", + "Wide nasal bridge (HPO)", + "Bone marrow hypocellularity (HPO)", + "Renal hypoplasia (HPO)", ], "has_phenotype_count": 36, "has_phenotype_closure": [ - "UPHENO:0050406", - "UPHENO:0000552", + "HP:0000089", + "UPHENO:0075182", + "UPHENO:0019487", + "UPHENO:0069110", + "UPHENO:0081210", + "CL:0002092", + "UBERON:0002371", + "UPHENO:0002948", + "CL:0001035", + "HP:0012145", + "UBERON:0002405", + "UPHENO:0006147", + "HP:0000422", + "UPHENO:0006161", + "HP:0100887", + "HP:0008056", + "UPHENO:0080209", + "UPHENO:0069523", + "HP:0000568", + "GO:0007272", + "UPHENO:0050372", + "UPHENO:0084012", + "HP:0002188", + "UPHENO:0000553", + "GO:0007417", + "GO:0007399", + "GO:0042552", + "GO:0010001", + "GO:0021782", + "GO:0008366", + "GO:0030154", + "GO:0048468", + "UPHENO:0062515", + "GO:0022010", + "UPHENO:0061854", "HP:0012448", "UPHENO:0084007", - "UPHENO:0050372", - "HP:0012447", + "UPHENO:0083952", + "GO:0048869", + "GO:0048709", + "GO:0014003", + "HP:0011400", "UPHENO:0062527", - "UPHENO:0008593", - "UPHENO:0088168", - "UPHENO:0082467", - "UPHENO:0041458", + "UPHENO:0050406", + "UPHENO:0076779", + "UPHENO:0026980", + "UBERON:0000916", + "UPHENO:0025100", + "UPHENO:0025211", + "UBERON:0000489", + "HP:0000079", + "UBERON:8450002", + "HP:0000077", + "UBERON:0001008", + "UBERON:0002113", + "UBERON:0011143", + "HP:0000104", + "HP:0012130", + "GO:0048731", + "HP:0001871", + "UBERON:0002193", + "HP:0025461", + "UPHENO:0081585", + "HP:0020047", + "HP:0001877", + "CL:0002371", + "UPHENO:0004459", + "UPHENO:0021753", + "CL:0000548", + "CL:0000232", + "CL:0000329", + "UPHENO:0041203", + "HP:0000366", "HP:0000436", - "UPHENO:0000553", - "UPHENO:0068843", - "UPHENO:0081095", - "HP:0000036", - "UPHENO:0002597", + "UBERON:0002268", + "UPHENO:0082454", + "UBERON:0012128", + "UBERON:0007827", + "UBERON:0034929", + "UPHENO:0082467", + "UPHENO:0021517", + "UPHENO:0041098", + "UPHENO:0002907", + "UPHENO:0021095", + "UBERON:0003135", + "UBERON:0011250", + "UBERON:0003101", + "HP:0003241", + "UBERON:0012357", 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"UPHENO:0083951", + "UBERON:0005897", + "UPHENO:0049586", + "UPHENO:0002813", "UPHENO:0003811", - "UPHENO:0081598", - "UPHENO:0001002", - "UPHENO:0087924", - "UPHENO:0087510", + "HP:0000356", + "HP:0002086", + "UBERON:0002390", + "UBERON:0011249", + "UBERON:0006058", + "UBERON:0000117", + "UPHENO:0080114", + "UPHENO:0018426", + "HP:0005930", + "UBERON:0005944", + "UPHENO:0021800", + "UPHENO:0008668", + "UBERON:0010313", + "HP:0040064", "UPHENO:0018424", - "HP:0000357", - "HP:5200045", - "UPHENO:0080110", - "HP:0005528", - "UPHENO:0076761", - "UPHENO:0020659", - "HP:0000470", - "UPHENO:0076791", - "UPHENO:0086589", - "HP:0200006", - "HP:0000315", - "UPHENO:0005016", - "UPHENO:0026128", + "UPHENO:0020745", + "UPHENO:0009300", + "UPHENO:0009327", + "UBERON:0000072", + "UPHENO:0027319", + "PR:000050567", + "HP:0010228", + "HP:0000347", + "UBERON:0019221", + "HP:0008551", + "UPHENO:0009382", + "UPHENO:0002443", + "UPHENO:0074575", + "UBERON:0010758", + "UBERON:0011582", + "UBERON:0000154", + "UBERON:0004249", + "HP:0001903", + "UBERON:0004381", + "UBERON:0012140", + "HP:0001263", + "UBERON:0002355", + "GO:0032501", + "UBERON:0005451", + "UPHENO:0018390", + "UBERON:0010708", + "UBERON:0001456", + "UBERON:0004921", + "UBERON:0004121", + "UPHENO:0001072", + "UBERON:0000025", + "HP:0004378", "HP:0000119", - "HP:0000152", - "HP:0000077", - "UPHENO:0002905", - "UPHENO:0083951", - "UPHENO:0026023", - "HP:0012733", - "UPHENO:0002708", - "UPHENO:0080099", - "UPHENO:0002833", - "UPHENO:0026181", - "UPHENO:0080165", - "HP:0002921", - "UPHENO:0061854", - "HP:0008684", + "UBERON:0008962", + "HP:0009815", + "HP:0033127", + "UBERON:0015024", + "NCBITaxon:1", + "UPHENO:0008523", + "UPHENO:0075219", + "UPHENO:0021802", + "UBERON:0008811", + "UBERON:0001434", + "UPHENO:0049367", + "UBERON:0001690", + "UPHENO:0022529", + "UBERON:0002387", + "HP:0008050", + "UPHENO:0003053", + "UBERON:0002091", + "UPHENO:0003020", + "UBERON:0010712", + "UBERON:0012475", + "UPHENO:0081099", + "HP:0009822", + "CL:0000764", + "UBERON:0010538", + "HP:0005920", + "UPHENO:0081790", "HP:0009777", - "UPHENO:0076740", - "UPHENO:0076760", - "HP:0011024", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0087816", - "UPHENO:0086633", + "UBERON:0005282", + "UPHENO:0020651", "HP:0045060", - "HP:0003319", - "HP:0009601", - "PATO:0000001", - "UPHENO:0026028", - "UPHENO:0049700", + "HP:0000929", + "UBERON:0004765", + "UPHENO:0080377", + "UBERON:0010740", + "UBERON:0012354", + "HP:0011844", + "UPHENO:0011498", + "HP:0007018", + "UBERON:0010912", + "UPHENO:0002803", + "HP:0001317", + "UBERON:0003100", + "HP:0012252", + "GO:0006338", + "HP:0000238", + "GO:0009889", + "UPHENO:0078606", + "UPHENO:0002896", + "UBERON:0004742", + "UBERON:0002100", + "UPHENO:0002727", + "HP:0012372", "HP:0005927", - "HP:0010938", - "UPHENO:0087643", - "UPHENO:0072194", - "UPHENO:0075878", - "HP:0006496", - "HP:0000356", - "UPHENO:0014240", - "HP:0002031", - "UPHENO:0084448", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0079876", - "UPHENO:0002880", - "UPHENO:0002830", + "UBERON:0000970", + "UPHENO:0075902", + "UPHENO:0027575", + "UPHENO:0026183", + "UPHENO:0080300", + "UPHENO:0041226", + "UPHENO:0079826", + "UBERON:0006983", + "UBERON:0012141", "UPHENO:0080126", - "UPHENO:0084766", - "UPHENO:0088186", + "UBERON:0000004", + "GO:0040029", + "HP:0012733", + "GO:0006325", + "UPHENO:0002905", + "UPHENO:0069196", + "UBERON:0000019", + "UBERON:5001463", + "UPHENO:0019613", + "BFO:0000141", + "HP:0006265", + "UPHENO:0084447", "UPHENO:0002901", - "HP:0009815", - "UPHENO:0011498", - "UPHENO:0006910", - "UPHENO:0002642", - "UPHENO:0080325", - "UPHENO:0046571", - "HP:0001172", - "UPHENO:0026506", - "UPHENO:0084763", - "UPHENO:0018414", - "UPHENO:0081328", + "CL:0000081", + "UPHENO:0082129", + "HP:0032039", + "GO:0010605", + "UPHENO:0049622", + "UBERON:0001555", + "UBERON:0035639", + "UBERON:0001463", + "HP:0002814", + "UBERON:0003463", + "UBERON:0000161", + "HP:0005918", + "UBERON:0001711", + "HP:0001167", + "UBERON:0001460", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0000020", + "HP:0000492", + "UPHENO:0063603", + "UPHENO:0080111", + "UPHENO:0008593", + "UBERON:0008907", + "HP:0000924", + "UPHENO:0005016", + "UPHENO:0076761", + "HP:0000036", + "UPHENO:0005433", + "UPHENO:0082682", + "GO:0008152", + "UPHENO:0049874", + "PATO:0000001", + "UBERON:0007811", + "UPHENO:0020584", + "UBERON:0006333", + "UBERON:0002513", + "UPHENO:0020853", + "UBERON:0004086", + "UBERON:0034921", + "UBERON:0003620", + "UBERON:5102389", + "UBERON:0013765", + "UBERON:0004247", + "UPHENO:0076720", + "UPHENO:0002433", + "UBERON:0004088", + "UBERON:0004710", + "UPHENO:0076692", + "UBERON:0015203", + "UPHENO:0081095", "HP:0030669", - "HP:0004590", - "UPHENO:0076695", - "UPHENO:0054970", - "HP:0034261", - "HP:0005107", - "UPHENO:0069391", - "HP:0008518", - "HP:0025461", - "UPHENO:0076805", - "HP:0000050", - "UPHENO:0076735", - "HP:0000130", - "UPHENO:0020748", - "UPHENO:0002725", - "UPHENO:0088047", - "HP:0012718", - "UPHENO:0002635", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0026980", - "UPHENO:0056212", - "HP:0012243", - "HP:0005607", - "HP:0025033", - "UPHENO:0088162", - "HP:0000953", - "HP:0000347", - "HP:0025031", - "HP:0000377", - "UPHENO:0076803", - "UPHENO:0085068", - "UPHENO:0009382", - "HP:0000238", - "UPHENO:0087433", - "UPHENO:0087430", - "UPHENO:0056333", - "UPHENO:0006161", - "HP:0002118", - "HP:0007360", - "UPHENO:0076766", - "UPHENO:0076702", - "HP:0012443", - "UPHENO:0026183", - "HP:0040068", - "UPHENO:0056072", - "HP:0009380", - "HP:0002086", - "UPHENO:0060026", - "HP:0001511", - "UPHENO:0000543", - "UPHENO:0081784", - "UPHENO:0008523", + "UBERON:0007842", + "UBERON:0004456", + "UPHENO:0068971", + "HP:0000234", + "UBERON:0001558", + "UBERON:0000061", + "UPHENO:0026023", + "HP:0000152", + "RO:0002577", + "UPHENO:0081786", + "UBERON:0012360", + "UPHENO:0081581", + "HP:0000271", + "HP:0003221", + "UBERON:0002104", + "NBO:0000030", + "GO:0031049", + "UPHENO:0080079", + "HP:0000582", + "UBERON:0001032", + "HP:0001321", + "UPHENO:0002903", + "UBERON:0002413", + "UPHENO:0076727", + "UPHENO:0002332", + "UPHENO:0074584", + "HP:0012638", + "UBERON:0006075", + "UBERON:0004923", + "UPHENO:0075997", + "UBERON:0013515", + "UPHENO:0050121", + "GO:0050789", + "HP:0011297", + "HP:0009825", + "UPHENO:0015280", + "UPHENO:0021284", "UPHENO:0050008", - "HP:0001034", - "HP:0009823", - "HP:0000957", - "UPHENO:0002907", - "HP:0002011", - "UPHENO:0074575", + "HP:0011446", + "UPHENO:0056237", + "UBERON:0001444", + "GO:0031327", + "HP:0005922", + "UBERON:0001016", + "GO:0010558", + "NBO:0000243", + "CL:0000763", + "UBERON:0006717", + "UBERON:0015063", + "UBERON:0004120", + "UPHENO:0009305", + "HP:0040068", + "UBERON:0000063", + "HP:0008772", + "UPHENO:0081091", + "UBERON:0003975", + "UPHENO:0072195", + "UBERON:0005174", + "HP:0000736", + "UPHENO:0076803", + "UBERON:0003221", + "UBERON:0008784", + "UBERON:0034923", + "UPHENO:0001001", + "NBO:0000455", + "UBERON:0001442", + "GO:0050794", + "UBERON:0002097", + "HP:0010461", + "GO:0010468", + "UBERON:0001062", + "HP:0008678", + "HP:0002032", + "UBERON:0004111", + "UBERON:0010688", + "HP:0000752", + "HP:0012447", + "GO:0008150", + "UBERON:0015061", + "UPHENO:0079876", + "UBERON:0009569", + "UBERON:0002101", + "UPHENO:0068984", + "UBERON:0006800", + "UPHENO:0026628", + "UPHENO:0081314", + "HP:0040012", + "UBERON:0013701", + "UBERON:0000465", + "UBERON:0010314", + "UPHENO:0019987", + "BFO:0000003", + "GO:0009892", + "HP:0001172", + "UPHENO:0084457", + "HP:0011314", + "UBERON:0011138", + "GO:0043933", + "UBERON:0002471", + "UBERON:0010323", + "UBERON:0000479", + "UPHENO:0000543", + "UPHENO:0076718", + "GO:0009987", + "UPHENO:0049873", + "HP:0025354", + "GO:0005623", + "HP:0003220", + "UPHENO:0075878", + "GO:0031326", + "UBERON:0000026", + "BFO:0000040", + "UPHENO:0080158", + "UPHENO:0054957", + "UPHENO:0001005", + "UPHENO:0027515", + "GO:0071840", + "UPHENO:0081436", + "UBERON:0010230", + "UPHENO:0081466", + "UPHENO:0076703", + "HP:0005607", + "GO:0019222", + "HP:0002813", + "GO:0010556", + "UPHENO:0026509", + "UBERON:0004708", + "UPHENO:0002642", + "GO:0071824", + "UPHENO:0082875", + "HP:0007360", + "UBERON:0005172", + "UPHENO:0076723", + "HP:0011968", + "HP:0000369", + "CL:0000000", + "HP:0012210", + "UPHENO:0005986", + "BFO:0000001", + "HP:0009115", + "UBERON:0006314", + "UPHENO:0014240", + "UBERON:0000153", + "UBERON:0011159", + "HP:0002575", + "UPHENO:0002844", + "UBERON:0011676", + "HP:0000153", "HP:0002692", - "UPHENO:0076730", - "UPHENO:0050121", - "UPHENO:0074572", - "UPHENO:0025875", - "UPHENO:0080377", - "UPHENO:0080221", - "UPHENO:0025100", - "HP:0025668", - "UPHENO:0076739", - "BFO:0000020", - "UPHENO:0059829", + "HP:0000357", + "UPHENO:0080110", + "GO:0031324", + "UBERON:0000467", + "UBERON:0001691", + "UBERON:0010000", + "GO:0010629", + "UBERON:0000468", + "BFO:0000015", + "UPHENO:0027467", + "UBERON:0002553", + "UBERON:0003466", + "UBERON:0005913", + "UPHENO:0063599", + "HP:0000122", + "UPHENO:0002536", + "UBERON:0000989", + "HP:0000707", + "UPHENO:0049700", + "UBERON:0000475", ], "has_phenotype_closure_label": [ - "delayed central nervous system myelination", + "decreased size of the kidney", + "abnormal size of kidney", + "kidney hypoplasia", + "bone marrow", + "Abnormality of the immune system (HPO)", + "Bone marrow hypocellularity (HPO)", + "bone marrow cell", + "abnormal immune system", + "nasal bridge", + "increased width of nasal bridge", + "increased width of the anatomical entity in independent continuant", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Microphthalmia (HPO)", + "Abnormality of globe size (HPO)", + "Delayed CNS myelination (HPO)", + "Delayed myelination (HPO)", + "delayed biological_process in central nervous system", + "gliogenesis", + "abnormal central nervous system myelination in independent continuant", + "abnormal myelination in independent continuant", + "abnormal biological_process in nervous system", + "snout", + "abnormal myelination", + "oligodendrocyte differentiation", + "myelination", + "glial cell differentiation", + "glial cell development", + "axon ensheathment", + "abnormal central nervous system myelination", + "ensheathment of neurons", + "cellular developmental process", + "delayed biological_process in independent continuant", + "absent anatomical entity in the renal system", + "Abnormality of the urinary system (HPO)", + "renal system", + "excretory system", + "abdomen element", + "cavitated compound organ", + "Unilateral renal agenesis (HPO)", + "abnormal kidney", "absent kidney", - "absent kidney in the independent continuant", - "Unilateral renal agenesis", - "Abnormal nasal tip morphology", - "abnormal external nose morphology", + "Renal agenesis (HPO)", + "abdomen", + "abnormal kidney morphology", + "Renal hypoplasia/aplasia (HPO)", + "abnormal upper urinary tract", + "upper urinary tract", + "absent kidney in the renal system", + "Abnormality of the upper urinary tract (HPO)", + "abnormal renal system", + "Abnormal renal morphology (HPO)", + "native cell", + "hemolymphoid system", + "hematopoietic system", + "erythroid lineage cell", + "eukaryotic cell", + "oxygen accumulating cell", + "Abnormal cell morphology (HPO)", + "myeloid cell", + "blood cell", + "Abnormal erythroid lineage cell morphology (HPO)", + "animal cell", + "erythrocyte", + "somatic cell", + "Abnormal myeloid cell morphology (HPO)", + "Abnormality of the nose (HPO)", + "Abnormal nasal morphology (HPO)", + "anatomical point", + "curvature anatomical entity", + "Abnormality of the nasal tip (HPO)", + "abnormal nose tip", + "curvature anatomical entity in independent continuant", + "nose", + "flat anatomical entity in independent continuant", + "abnormal male reproductive organ morphology", + "male organism", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "penis", + "Abnormal penis morphology (HPO)", + "Micropenis (HPO)", + "external male genitalia", + "external genitalia", + "Growth abnormality (HPO)", + "abnormal external genitalia", "decreased size of the penis", - "Abnormal external genitalia", - "Micropenis", - "abnormal external male genitalia morphology", + "abnormal nose morphology", + "Hypoplastic male external genitalia (HPO)", + "abnormal penis", + "external male genitalia hypoplasia", "abnormal male reproductive system", - "penis hypoplasia", - "abnormal external male genitalia", - "abnormal male reproductive system morphology", - "abnormal male reproductive organ morphology", - "Abnormality of male external genitalia", - "abnormal incomplete closing of the secondary palate", - "Craniofacial cleft", - "abnormal incomplete closing of the anatomical entity", - "External genital hypoplasia", - "Abnormal palate morphology", + "hard palate", + "absent anatomical entity", + "roof of mouth", + "abnormal location of anatomical entity", "abnormal oral cavity morphology", - "abnormal opening of the anatomical entity", - "Abnormal cerebellum morphology", - "Abnormality of the male genitalia", - "decreased size of the cerebellum", - "Aplasia/Hypoplasia of the cerebellum", - "Abnormal hindbrain morphology", - "abnormal anatomical entity morphology in the brain", + "Abnormality of the midface (HPO)", + "abnormal midface", + "Orofacial cleft", + "pectoral appendage", + "Abnormality of the neck (HPO)", + "abnormal incomplete closing of the anatomical entity", + "abnormal secondary palate morphology", + "Hypertelorism (HPO)", + "hindbrain", + "cerebellum", + "Opisthokonta", + "Abnormality of blood and blood-forming tissues (HPO)", + "regional part of brain", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "Abnormal external genitalia (HPO)", + "Global developmental delay (HPO)", + "abnormal hindbrain morphology", + "transudate", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "absent radius bone in the independent continuant", + "Eukaryota", + "alimentary part of gastrointestinal system", + "Aplasia/Hypoplasia of the cerebellum (HPO)", "abnormal cerebellum morphology", - "Abnormality of digestive system physiology", + "root", + "aplasia or hypoplasia of cerebellum", + "abnormal metencephalon morphology", "abnormality of digestive system physiology", + "external soft tissue zone", + "absent anatomical entity in the ear", + "Esophageal atresia (HPO)", "alimentary part of gastrointestinal system atresia", - "Neurodevelopmental delay", - "Neurodevelopmental abnormality", - "abnormal female reproductive system", - "Abnormal morphology of female internal genitalia", - "Abnormality of the genital system", - "abnormal female reproductive system morphology", + "Neurodevelopmental delay (HPO)", + "Neurodevelopmental abnormality (HPO)", + "Abnormal digit morphology (HPO)", + "Abnormality of the lower limb (HPO)", + "Abnormality of the genital system (HPO)", + "abnormal anatomical entity morphology in the brain", "abnormal internal female genitalia morphology", - "absent uterus", - "abnormal female reproductive organ morphology", - "Aplasia/hypoplasia of the uterus", + "female organism", + "Abnormality of male external genitalia (HPO)", + "chromatin remodeling", + "abnormal genitourinary system", "absent anatomical entity in the reproductive system", - "Aplasia of the uterus", - "Abnormality of the uterus", - "aplasia or hypoplasia of uterus", - "Anotia", - "absent external ear in the independent continuant", - "decreased developmental process", + "uterus", + "abnormal reproductive system morphology", + "Abnormality of the cerebrospinal fluid (HPO)", + "absent uterus", + "Abnormal erythrocyte morphology (HPO)", + "abnormal internal genitalia", + "Abnormal eye morphology (HPO)", + "oviduct", + "subdivision of oviduct", + "decreased biological_process", + "Aplasia of the uterus (HPO)", + "absent external ear", + "multicellular organism development", + "Anotia (HPO)", + "agenesis of anatomical entity", + "absent external ear in the head", + "visual system", + "limb bone", + "thoracic segment organ", + "absent anatomical entity in the head", + "decreased qualitatively developmental process", + "decreased qualitatively biological_process", + "abnormal embryo development", + "oligodendrocyte development", + "developmental process", "decreased embryo development", - "abnormal developmental process", - "aplasia or hypoplasia of cerebellum", + "absent manual digit", + "changed embryo development rate", + "anatomical structure development", + "Abnormality of hindbrain morphology (HPO)", + "abnormal anatomical entity morphology", + "Abnormality of long bone morphology (HPO)", "changed developmental process rate", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "Abnormal upper limb bone morphology", - "Absent radius", - "Abnormal morphology of the radius", - "Aplasia/Hypoplasia of the radius", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal long bone morphology", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "absent radius bone in the forelimb", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormal jaw morphology", - "aplasia or hypoplasia of mandible", - "cerebellum hypoplasia", - "Abnormal skull morphology", - "Abnormality of the mouth", - "abnormal head bone morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal jaw skeleton morphology", + "decreased developmental process", + "cellular component organization or biogenesis", + "Absent radius (HPO)", + "Aplasia involving forearm bones (HPO)", "bone element hypoplasia in face", - "abnormal embryo development", - "abnormal mouth morphology", - "shape nose tip", + "Aplasia involving bones of the extremities (HPO)", + "Abnormal palate morphology (HPO)", + "esophagus atresia", + "Abnormality of forearm bone (HPO)", + "digit 1", + "upper jaw region", + "Abnormal oral morphology (HPO)", + "forelimb zeugopod skeleton", + "Abnormality of the radius (HPO)", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", + "aplastic forelimb zeugopod bone", + "abnormal respiratory tube morphology", + "radius endochondral element", + "increased biological_process", + "arm bone", + "abnormal anatomical entity morphology in the skeleton of manus", + "absent radius bone in the forelimb", + "absent anatomical entity in the forelimb", + "phalanx endochondral element", + "absent radius bone", + "Absent forearm bone (HPO)", + "dermal bone", + "jaw skeleton", + "abnormal digit", + "facial bone", + "body proper", + "Abnormality of the digestive system (HPO)", + "abnormal forelimb zeugopod", + "Abnormality of the ear (HPO)", + "dermal skeletal element", "anatomical entity hypoplasia in face", - "abnormal facial skeleton morphology", - "Bilateral talipes equinovarus", - "Talipes equinovarus", - "Abnormality of the lower limb", - "Abnormal foot morphology", - "abnormal genitourinary system", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "delayed biological_process in independent continuant", - "Renal hypoplasia/aplasia", - "abnormal renal system morphology", - "Abnormality of the genitourinary system", - "kidney hypoplasia", - "abnormal renal system", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "Abnormal renal morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "external male genitalia hypoplasia", - "Bone marrow hypocellularity", - "abnormal immune system", - "Abnormality of the immune system", - "abnormal bone marrow cell morphology", - "Abdominal symptom", - "Wide nasal bridge", - "abnormal nose", - "abnormal midface morphology", - "abnormal nose morphology", - "increased width of the anatomical entity in independent continuant", - "increased width of anatomical entity", - "Abnormal nasal bridge morphology", - "abnormal size of eyeball of camera-type eye", - "Abnormal myelination", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal penis morphology", - "Abnormality of globe size", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal myelination", - "Depressed nasal tip", - "abnormal erythrocyte morphology", - "Abnormal myeloid cell morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal bone marrow cell", - "Anemia", - "Esophageal atresia", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", - "Abnormality of the urinary system", - "increased length of the anatomical entity", - "curvature anatomical entity", + "trachea", + "Abnormal hand morphology (HPO)", + "mouth", + "bone of lower jaw", + "primary subdivision of skull", + "face", + "decreased size of the external male genitalia", + "absent kidney in the independent continuant", + "abnormal skull morphology", + "head bone", + "Abnormality of limbs (HPO)", + "Aplasia/Hypoplasia of facial bones (HPO)", + "decreased size of the eyeball of camera-type eye", + "Abnormal skull morphology (HPO)", + "Abnormality of the female genitalia (HPO)", + "pelvic region of trunk", + "Abnormality of the mouth (HPO)", + "abnormal programmed DNA elimination by chromosome breakage", + "digitopodium bone", + "organism substance", + "reproductive organ", + "manual digit phalanx endochondral element", + "Aplasia/Hypoplasia involving the vertebral column (HPO)", + "jaw region", + "neural crest-derived structure", + "facial skeleton", + "skull", + "Abnormal jaw morphology (HPO)", + "epiphysis of phalanx of manus", + "abnormal mandible morphology", + "regulation of macromolecule biosynthetic process", + "anatomical space", + "abnormal respiratory system", + "oral cavity", + "aplasia or hypoplasia of mandible", + "Aplasia involving bones of the upper limbs (HPO)", + "dentary", + "abnormal location of external ear", + "hindlimb", + "Aplasia/Hypoplasia of the radius (HPO)", + "pelvic complex", + "organism", + "ventricle of nervous system", + "abnormal biological_process in independent continuant", + "Gastrointestinal atresia (HPO)", "abnormal pes morphology", - "abnormal upper urinary tract", - "Abnormality of the eye", - "abnormal nasal bridge morphology", - "Hypertelorism", + "negative regulation of macromolecule biosynthetic process", + "ear", + "Cerebellar hypoplasia (HPO)", + "leg", + "pes", + "Abnormal foot morphology (HPO)", + "skeletal system", + "delayed biological_process", + "growth", + "Abnormal hard palate morphology (HPO)", + "delayed growth", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", "increased anatomical entity length in independent continuant", - "absent external ear", + "absent epiphysis in the independent continuant", "abnormal location of eyeball of camera-type eye", - "abnormal growth", - "delayed growth", - "Growth delay", - "delayed biological_process", - "absent anatomical entity in the renal system", - "Abnormality of the upper limb", - "absent anatomical entity in the ear", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "abnormal manual digit morphology in the independent continuant", - "Abnormality of digestive system morphology", - "abnormal limb", - "abnormal behavior", - "decreased size of the kidney", - "Abnormal eye morphology", - "external ear hypoplasia", - "Hypoplastic sacrum", - "Abnormality of the respiratory system", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "abnormal fused sacrum morphology", - "Abnormality of the ear", - "Intrauterine growth retardation", - "changed embryo development rate", - "abnormal manual digit 1 morphology", - "abnormal external ear", - "Talipes", - "abnormal cerebrospinal fluid morphology", - "decreased length of anatomical entity", + "dermal skeleton", + "immaterial entity", + "increased size of the anatomical entity", + "non-material anatomical boundary", + "bone of appendage girdle complex", + "skeleton of lower jaw", + "increased length of the anatomical line between pupils", "aplasia or hypoplasia of ear", - "Aplasia/Hypoplasia of the ear", - "abnormal neck morphology", - "abnormal forelimb morphology", - "esophagus atresia", - "absent radius bone", - "anatomical entity hypoplasia", - "absent anatomical entity in the head", - "decreased biological_process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "flattened anatomical entity in independent continuant", - "abnormal palpebral fissure", - "shape anatomical entity in independent continuant", - "aplasia or hypoplasia of anatomical entity", - "abnormal arm", - "flat anatomical entity in independent continuant", - "absent anatomical entity in the forelimb", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "Abnormal pinna morphology", - "abnormal hindlimb morphology", - "increased pigmentation in skin of body", - "anatomical entity hypoplasia in independent continuant", - "Abnormality of the musculoskeletal system", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplastic forelimb zeugopod bone", - "aplasia or hypoplasia of fused sacrum", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "Abnormal mandible morphology", - "Abnormal midface morphology", - "absent anatomical entity in the limb", - "Orofacial cleft", - "Morphological abnormality of the gastrointestinal tract", - "decreased length of anatomical entity in independent continuant", - "curvature anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal external ear morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "abnormal skull morphology", - "abnormal response to stimulus", - "Microphthalmia", - "abnormal skeletal system", - "Abnormal neck morphology", - "aplasia or hypoplasia of manual digit 1", - "abnormal vertebral column", - "fused sacrum hypoplasia", - "abnormal number of anatomical enitites of type anatomical entity", - "aplasia or hypoplasia of vertebral column", - "abnormal head", - "abnormally increased number of anatomical entity in the independent continuant", - "Abnormality of the face", - "Abnormal anus morphology", - "abnormal snout morphology", - "abnormal face", - "Aplasia/Hypoplasia of the thumb", - "quality", - "Slanting of the palpebral fissure", - "abnormal cellular process", - "abnormal biological_process in central nervous system", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Hypoplastic male external genitalia", - "Abnormal cell morphology", - "phenotype", - "abnormal hindbrain morphology", - "absent digit", - "abnormal behavior process", - "abnormal cell", - "abnormal reproductive system", - "Abnormality of head or neck", - "entity", - "abnormal size of kidney", - "Abnormal eyelid morphology", - "mandible hypoplasia", - "Microtia", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Atypical behavior", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Morphological central nervous system abnormality", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal craniocervical region morphology", - "continuant", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormal forearm morphology", - "decreased size of the mandible", - "abnormal anatomical entity", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormality of mental function", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased size of the external male genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of the palpebral fissures", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormality of the outer ear", + "anatomical line", + "hematopoietic cell", + "Abnormality of the eye (HPO)", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "anus atresia", + "Abnormality of limb epiphysis morphology (HPO)", + "anatomical entity atresia", + "Abnormality of the anus (HPO)", + "Anorectal anomaly (HPO)", + "Anal atresia (HPO)", + "abnormal head bone morphology", "abnormal leg", - "Attention deficit hyperactivity disorder", - "abnormal digestive system", + "Intrauterine growth retardation (HPO)", + "abnormal anus morphology", + "eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "Abnormal cerebral ventricle morphology (HPO)", + "Abnormality of skin morphology (HPO)", + "increased qualitatively biological_process in independent continuant", + "integument", + "lower respiratory tract", + "abnormal pigmentation", + "increased pigmentation in independent continuant", + "pigmentation", + "abnormal anus", + "Macule (HPO)", + "manual digitopodium bone", + "increased biological_process in independent continuant", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "abnormal eyeball of camera-type eye", + "abnormal mouth", + "abnormal pigmentation in independent continuant", + "Abnormality of the skin (HPO)", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "zeugopodial skeleton", + "mandible", + "abnormal hematopoietic system", + "Low-set ears (HPO)", + "increased pigmentation", + "multi organ part structure", + "Cleft palate (HPO)", + "Irregular hyperpigmentation (HPO)", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "external nose", + "Localized skin lesion (HPO)", "abnormal integument", - "flat nose tip", - "Micrognathia", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "abnormal metabolic process", - "abnormal programmed DNA elimination by chromosome breakage", - "increased width of nasal bridge", - "aplasia or hypoplasia of external ear", - "abnormal biological_process", - "Abnormal tracheobronchial morphology", - "Positional foot deformity", - "Abnormal cerebral ventricle morphology", - "abnormal organelle organization", - "Abnormal CNS myelination", - "abnormal development of anatomical entity", - "abnormal digit", - "Aplasia/Hypoplasia of facial bones", - "decreased size of the external ear", - "Abnormality of the hand", - "absent external ear in the head", + "Webbed neck (HPO)", + "negative regulation of cellular metabolic process", + "Decreased anatomical entity position", + "cell differentiation", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "abnormal location of ear", + "Abnormal neck morphology (HPO)", + "cervical region of vertebral column", + "cervical vertebra", + "abnormal nasal bridge morphology", + "dorsal part of neck", + "vertebral element", + "digestive system element", + "trunk or cervical vertebra", + "neck bone", + "Abnormality of the external nose (HPO)", + "Anemia (HPO)", + "cervical region", + "Feeding difficulties (HPO)", + "abnormal mouth morphology", "decreased length of neck", - "abnormal central nervous system myelination in independent continuant", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Abnormality of the nose", + "neck", + "Hydrocephalus (HPO)", + "internal genitalia", "abnormal neck", - "abnormal brain ventricle morphology", - "abnormal nitrogen compound metabolic process", - "Abnormality of the head", - "abnormal anus", - "abnormal face morphology", - "abnormal digestive system morphology", - "abnormal myeloid cell morphology", - "increased biological_process", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal nervous system", - "Neoplasm", - "Anal atresia", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "Abnormal nervous system physiology", - "Feeding difficulties", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal esophagus morphology", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "delayed biological_process in central nervous system", - "changed biological_process rate", + "membrane bone", + "Abnormality of globe location (HPO)", + "abnormal skeletal system", + "Abnormal nervous system morphology (HPO)", + "organ component layer", + "cerebrospinal fluid", + "autopod bone", + "cerebellum hypoplasia", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal external male genitalia morphology", + "abnormal nervous system morphology", + "abnormal female reproductive system", + "anatomical structure", + "abnormally increased number of anatomical entity in the independent continuant", + "aplasia or hypoplasia of uterus", + "abnormal cerebrospinal fluid", + "abnormal metabolic process", + "abnormal brain morphology", + "penis hypoplasia", + "bone of pectoral complex", + "abnormal developmental process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormally increased number of anatomical entity", + "abnormal central nervous system morphology", + "facial bone hypoplasia", + "abnormal axon ensheathment in central nervous system in independent continuant", + "aplasia or hypoplasia of manual digit", + "Decreased external ear position", + "tube", + "respiratory tract", + "Metazoa", + "abnormal tracheobronchial tree morphology", + "Abnormal internal genitalia (HPO)", + "abnormal growth", + "absent anatomical entity in the multicellular organism", "increased biological_process in skin of body", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal cellular phenotype", - "Irregular hyperpigmentation", - "Hydrocephalus", - "absent radius bone in the independent continuant", - "Upslanted palpebral fissure", - "abnormal mouth", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Absent forearm bone", - "abnormal ocular adnexa morphology", - "flattened anatomical entity", - "Aplasia involving forearm bones", - "Abnormality of globe location", - "Abnormality of skin pigmentation", - "Abnormality of the female genitalia", - "abnormal primary metabolic process", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "Hypoplasia of penis", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal mandible morphology", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal cervical vertebra", + "Abnormal cerebellum morphology (HPO)", + "respiratory system", + "increased width of anatomical entity", + "Hypoplastic facial bones (HPO)", + "respiratory tube", + "Tracheoesophageal fistula (HPO)", + "kidney", + "respiratory airway", + "abnormal trachea morphology", + "upper digestive tract", + "Abnormal ocular adnexa morphology (HPO)", + "anatomical cavity", + "thoracic cavity element", + "increased qualitatively biological_process", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal alimentary part of gastrointestinal system", + "abnormal external male genitalia", + "digestive tract", + "integumental system", + "viscus", + "voluntary movement behavior phenotype", + "esophagus", + "attention behavior", + "decreased length of anatomical entity", + "quality", + "abnormal digestive system morphology", + "Abnormality of the vertebral column (HPO)", + "thoracic segment of trunk", + "Abnormal finger phalanx morphology (HPO)", + "Depressed nasal tip (HPO)", + "anatomical line between pupils", + "system development", + "ocular adnexa", + "abnormal digestive system", "aplastic manual digit 1", - "agenesis of anatomical entity", - "Delayed CNS myelination", - "Hyperactivity", - "aplasia or hypoplasia of manual digit", - "Aplasia/Hypoplasia of fingers", + "subdivision of digestive tract", + "endoderm-derived structure", + "negative regulation of cellular biosynthetic process", + "Abnormality of the respiratory system (HPO)", + "dorsal region element", + "axon ensheathment in central nervous system", + "aplasia or hypoplasia of fused sacrum", + "Aplasia/hypoplasia of the uterus (HPO)", + "abnormal epiphysis morphology in the independent continuant", + "Hypoplastic sacrum (HPO)", + "abnormal craniocervical region", + "pelvic region element", + "male reproductive organ", + "obsolete cell", + "Abnormal nervous system physiology (HPO)", + "appendage", + "subdivision of vertebral column", + "Abnormal metencephalon morphology (HPO)", + "postcranial axial skeleton", + "vertebra", + "axial skeleton plus cranial skeleton", + "abnormal ear morphology", + "abnormal long bone morphology", + "paired limb/fin skeleton", + "digit 1 digitopodial skeleton", + "postcranial axial skeletal system", + "subdivision of tube", + "multicellular organism", + "abnormal fused sacrum morphology", + "abnormal nose tip morphology", + "cognitive behavior", + "dorsum", + "manus bone", + "Abnormality of the male genitalia (HPO)", + "Abnormal morphology of female internal genitalia (HPO)", + "Abnormality of the integument (HPO)", + "Abnormal sacrum morphology (HPO)", + "nose tip", + "skeletal element", + "absent uterus in the independent continuant", + "abnormal esophagus morphology", + "sacral region", + "decreased size of the mandible", + "abnormal biological_process in central nervous system", "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormal digit morphology", - "Abnormality of limb bone", - "abnormal manus morphology", - "flat anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal anatomical entity morphology in the manus", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal appendicular skeleton morphology", - "Aplasia/Hypoplasia of the mandible", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal autopod region morphology", - "abnormal ear", - "Absent thumb", - "aplastic anatomical entity", + "forelimb", + "autopodial skeleton", + "sacral region of vertebral column", + "acropodial skeleton", + "individual digit of digitopodial skeleton", + "regulation of biological process", + "digit", + "Abnormality of the head (HPO)", + "abdominal segment of trunk", + "abnormal limb", + "abnormal arm", "abnormal bone of pectoral complex morphology", + "system", + "abnormal development of anatomical entity", + "trunk region element", + "anatomical entity", + "regulation of macromolecule metabolic process", + "pectoral complex", + "central nervous system myelination", + "digit 1 or 5", + "brain", + "manual digitopodium region", + "absent anatomical entity in the independent continuant", + "Short neck (HPO)", + "increased size of the anatomical entity in independent continuant", + "bone cell", + "nervous system development", + "biological_process", + "protein-containing material entity", + "subdivision of skeleton", + "midface", + "segmental subdivision of hindbrain", + "absent epiphysis of phalanx of manus in the phalanx of manus", + "phenotype", + "Talipes equinovarus (HPO)", + "abnormal manus", + "abnormal face", + "absent anatomical entity in the phalanx of manus", + "vertebral column", + "zone of long bone", + "arm", + "abnormal nose", + "long bone", + "main body axis", + "manual digit", + "cranial skeletal system", + "abnormal vertebral column morphology", + "organism subdivision", + "vestibulo-auditory system", + "forelimb endochondral element", + "abnormal manual digit 1 morphology", + "male reproductive system", + "secondary palate", + "digestive system", + "abdominal segment element", + "Abnormal tracheal morphology (HPO)", + "pectoral appendage skeleton", + "female reproductive system", + "skeleton of manual acropodium", + "Aplasia/Hypoplasia of fingers (HPO)", + "forelimb zeugopod bone", + "manual digit digitopodial skeleton", + "Abnormality of the gastrointestinal tract (HPO)", + "Phenotypic abnormality (HPO)", + "process", + "organ system subdivision", + "central nervous system", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal incomplete closing of the secondary palate", + "organ", + "bone of jaw", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", + "fused sacrum hypoplasia", + "limb long bone", + "manual digit bone", "abnormal cellular metabolic process", - "abnormal respiratory system", - "Aplasia of the fingers", - "Abnormal finger morphology", - "abnormal secondary palate morphology", - "abnormal shape of external ear", - "Reduced attention regulation", + "ventricular system of central nervous system", + "acropodium region", + "abnormal brain ventricle morphology", + "Abnormal respiratory system morphology (HPO)", + "digitopodium region", + "Abnormal reproductive system morphology (HPO)", + "immaterial anatomical entity", + "Abnormality of head or neck (HPO)", + "endochondral element", + "central nervous system development", + "bone element", + "Abnormal location of ears (HPO)", + "bodily fluid", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal opening of the anatomical entity", "abnormal limb bone morphology", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "orifice", + "zone of organ", + "Abnormal hand epiphysis morphology (HPO)", + "posterior region of body", + "cervical vertebra endochondral element", + "aplasia or hypoplasia of eyeball of camera-type eye", + "independent continuant", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "flattened anatomical entity", + "Morphological central nervous system abnormality (HPO)", + "upper limb segment", + "absent anatomical entity in the female reproductive system", + "anatomical wall", + "trunk", + "abnormal ear", + "digit 1 plus metapodial segment", + "cell", + "Absent epiphyses (HPO)", + "brain ventricle/choroid plexus", + "Abnormal appendicular skeleton morphology (HPO)", + "sense organ", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "abnormal anatomical entity morphology in the manus", + "subdivision of organism along appendicular axis", + "absent manual digit 1", + "Abnormal skeletal morphology (HPO)", + "limb skeleton subdivision", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "abnormal vertebral column", + "manual digit 1 digitopodial skeleton", + "segmental subdivision of nervous system", + "abnormal skin of body", + "palpebral fissure", + "abnormal external nose", + "Aplasia/Hypoplasia of the sacrum (HPO)", + "appendicular skeleton", + "absent anatomical entity in the limb", + "zone of bone organ", + "abnormal size of eyeball of camera-type eye", + "Positional foot deformity (HPO)", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "paired limb/fin", + "External genital hypoplasia (HPO)", + "anatomical collection", + "decreased size of the cerebellum", + "Growth delay (HPO)", + "abnormal phalanx of manus morphology", + "aplastic anatomical entity", + "subdivision of head", + "Abnormality of epiphysis morphology (HPO)", + "abnormal cervical vertebra", + "abnormal number of anatomical enitites of type anatomical entity", + "female reproductive organ", + "Abnormality of the hand (HPO)", + "absent digit", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "Abnormal facial skeleton morphology (HPO)", + "segment of autopod", + "aplasia or hypoplasia of vertebral column", "abnormal appendicular skeleton morphology", - "shape anatomical entity", - "Abnormal respiratory system morphology", - "decreased qualitatively biological_process", + "skeleton", + "Abnormal cellular physiology (HPO)", + "abnormal radius bone", + "digit plus metapodial segment", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Wide nasal bridge (HPO)", + "appendage girdle complex", + "Aplasia/Hypoplasia of the external ear (HPO)", + "manual digit plus metapodial segment", + "abnormal nervous system", + "Abdominal symptom (HPO)", + "lateral structure", + "Abnormality of brain morphology (HPO)", + "limb", + "endochondral bone", + "brain ventricle", + "multi-limb segment region", + "Abnormality of digestive system physiology (HPO)", + "material anatomical entity", + "abnormal epiphysis morphology in the skeleton of manus", + "Absent epiphyses of the thumb (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "Abnormality of the uterus (HPO)", + "cell development", + "All (HPO)", + "hyperactivity", + "abnormal epiphysis morphology", "abnormal cellular component organization", - "abnormal trachea morphology", - "absent anatomical entity", - "abnormal limb morphology", - "abnormal digit morphology", - "Abnormal sacrum morphology", - "Abnormal metencephalon morphology", - "Cerebellar hypoplasia", - "Aplasia/Hypoplasia of the sacrum", - "Abnormal external nose morphology", - "Aplasia/Hypoplasia involving the vertebral column", - "Low-set ears", - "Tracheoesophageal fistula", - "abnormally increased number of anatomical entity", - "Abnormality of the neck", - "abnormal vertebral column morphology", + "absent anatomical entity in the skeletal system", + "appendicular skeletal system", + "irregular bone", + "abnormal epiphysis of phalanx of manus morphology", + "intromittent organ", + "aplasia or hypoplasia of anatomical entity", + "Abnormal pinna morphology (HPO)", + "abnormal external ear morphology", + "aplasia or hypoplasia of external ear", + "flattened anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "biological regulation", + "decreased size of the external ear", + "axial skeletal system", + "skeleton of manual digitopodium", + "Abnormal myelination (HPO)", + "occurrent", + "epiphysis", + "Abnormal oral cavity morphology (HPO)", + "Abnormal nasal bridge morphology (HPO)", + "abnormal skeletal system morphology", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "abnormal anatomical entity morphology in the independent continuant", + "segment of manus", + "Microtia (HPO)", + "Abnormality of limb bone morphology (HPO)", + "external ear hypoplasia", + "epiphysis of phalanx", + "skeleton of manus", + "abnormal shape of external ear", + "Abnormality of thumb epiphysis (HPO)", + "abnormal postcranial axial skeleton morphology", + "manual digit 1 plus metapodial segment", + "Abnormality of the palpebral fissures (HPO)", + "metencephalon", + "Abnormal thumb morphology (HPO)", + "Abnormal upper limb bone morphology (HPO)", + "programmed DNA elimination by chromosome breakage", + "abnormal orbital region", "delayed myelination", - "Chromosomal breakage induced by crosslinking agents", - "abnormal tracheobronchial tree morphology", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", - "absent forelimb zeugopod bone", - "abnormal respiratory tube morphology", - "Abnormal tracheal morphology", + "autopodial extension", + "eyelid", + "multi-tissue structure", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "decreased length of anatomical entity in independent continuant", + "phalanx of manus", + "autopod endochondral element", + "Talipes (HPO)", + "structure with developmental contribution from neural crest", + "regional part of nervous system", + "shape anatomical entity", + "abnormal head", + "forelimb bone", + "simple eye", + "immune system", + "organ part", + "abnormal uterus", + "Abnormality of the ocular adnexa (HPO)", + "abnormal shape of continuant", + "aplasia or hypoplasia of manual digit 1", + "absent epiphysis of phalanx of manus in the independent continuant", + "mandible hypoplasia", + "behavior", + "anatomical conduit", + "orbital region", + "Abnormal axial skeleton morphology (HPO)", + "abnormal size of anatomical entity", + "regulation of cellular metabolic process", + "abnormal multicellular organism morphology", + "Behavioral abnormality (HPO)", + "manual digit 1 phalanx endochondral element", + "Upslanted palpebral fissure (HPO)", + "abnormal behavior process", + "Bilateral talipes equinovarus (HPO)", + "Hyperpigmentation of the skin (HPO)", + "abnormal organelle organization", + "head", + "Abnormality of the kidney (HPO)", + "flat anatomical entity", + "Abnormality of digestive system morphology (HPO)", + "abnormally increased number of brain ventricle in the independent continuant", + "chromatin organization", + "sensory system", + "manual digit 1 phalanx", + "ectoderm-derived structure", + "Abnormality of the face (HPO)", + "abnormal phenotype by ontology source", + "abnormal hard palate morphology", + "absent external ear in the independent continuant", + "Short attention span (HPO)", + "abnormal phalanx morphology", + "proximo-distal subdivision of respiratory tract", + "trunk bone", "abnormal respiratory system morphology", - "abnormal biological_process in nervous system", - "abnormal alimentary part of gastrointestinal system", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "Abnormal esophagus morphology", - "aplasia or hypoplasia of skull", - "abnormal skin of body morphology", - "abnormal myelination in independent continuant", - "Aplasia involving bones of the extremities", - "All", - "increased qualitatively biological_process", - "Abnormal cerebrospinal fluid morphology", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal central nervous system myelination", - "abnormal closing of the anatomical entity", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormality of brain morphology", - "Delayed myelination", - "abnormal brain morphology", + "subdivision of organism along main body axis", + "Abnormality of the outer ear (HPO)", + "anterior region of body", + "Hypermelanotic macule (HPO)", + "neurogenesis", + "subdivision of trunk", + "external ear", + "tissue", + "Abnormality of mental function", + "abnormal ocular adnexa morphology", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "bone element hypoplasia in independent continuant", + "skin of body", + "abnormal biological_process", + "sensation behavior", + "shape nose tip", + "craniocervical region", + "negative regulation of biological process", + "behavior process", + "delayed central nervous system myelination", + "disconnected anatomical group", + "olfactory organ", "abnormal ocular adnexa", - "abnormal location of ear", - "abnormal anatomical entity topology in independent continuant", - "abnormal ear morphology", - "Decreased anatomical entity position", - "Reduced impulse control", - "Short attention span", - "abnormal location of external ear", - "Decreased external ear position", - "Abnormal location of ears", - "Abnormality of the gastrointestinal tract", - "Webbed neck", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "Hyperpigmentation of the skin", - "Gastrointestinal atresia", - "Abnormality of the vertebral column", - "Macule", - "abnormal pigmentation", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "Short neck", - "abnormal pigmentation in independent continuant", - "increased pigmentation", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "absent kidney in the renal system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased biological_process in independent continuant", - "Renal hypoplasia", - "increased qualitatively biological_process in independent continuant", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Cleft palate", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal penis", - "abnormal uterus", - "Abnormality of the skin", + "abnormal cellular process", + "Hypoplasia of penis (HPO)", + "regulation of biosynthetic process", + "entire sense organ system", + "abnormal external ear", + "Phenotypic abnormality", + "flat nose tip", + "Micrognathia (HPO)", + "abnormal limb bone", "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "anus atresia", - "Abnormality of the anus", + "bone of craniocervical region", + "regulation of gene expression", + "abnormal eyelid morphology", + "abnormal manus morphology", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "primary subdivision of cranial skeletal system", + "forelimb long bone", + "phenotype by ontology source", + "kinesthetic behavior phenotype", + "metabolic process", + "abnormal response to stimulus", + "Hyperactivity (HPO)", + "Abnormal mandible morphology (HPO)", + "continuant", + "abnormal limb long bone morphology", + "Abnormality of metabolism/homeostasis (HPO)", + "negative regulation of cellular process", + "intramembranous bone", + "skeleton of limb", + "abnormal facial skeleton morphology", + "nervous system", + "abnormal behavior", + "increased length of the anatomical entity", + "shape anatomical entity in independent continuant", + "abnormal penis morphology", + "negative regulation of macromolecule metabolic process", + "paired limb/fin segment", + "abnormal palpebral fissure", + "Absent thumb (HPO)", + "abnormal neck morphology", + "regulation of cellular biosynthetic process", + "cellular organisms", + "aplasia or hypoplasia of radius bone", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", + "non-connected functional system", + "musculoskeletal system", + "fused sacrum", + "compound organ", + "autopod region", + "decreased size of the anatomical entity", + "lower jaw region", + "zeugopod", + "limb endochondral element", + "regulation of cellular process", + "anatomical system", + "regulation of metabolic process", + "bony pelvis", + "lower limb segment", + "behavioral phenotype", + "absent uterus in the female reproductive system", + "Abnormality of upper limb epiphysis morphology (HPO)", + "Abnormal cellular phenotype (HPO)", + "changed biological_process rate", + "anatomical entity hypoplasia", + "absent forelimb zeugopod bone", + "Abnormal eyelid morphology (HPO)", + "phalanx", + "protein-containing complex organization", + "abnormal closing of the anatomical entity", + "material entity", + "internal female genitalia", + "aplasia or hypoplasia of skeleton", + "embryo development", + "camera-type eye", + "tracheobronchial tree", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "entity", + "epigenetic regulation of gene expression", + "reproductive structure", + "abnormal reproductive system", + "Abnormal CNS myelination (HPO)", + "manual digit 1 or 5", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "eye", + "increased pigmentation in skin of body", + "manual digit 1", + "Abnormality of the cervical spine (HPO)", + "cellular process", + "aplasia or hypoplasia of skull", + "Chromosome breakage (HPO)", + "Abnormality of the genitourinary system (HPO)", + "programmed DNA elimination", + "abdominal segment bone", + "cellular component organization", + "multicellular organismal process", + "Attention deficit hyperactivity disorder (HPO)", + "radius bone", + "bone of dorsum", + "Abnormality of bone marrow cell morphology (HPO)", + "absent epiphysis", + "multicellular anatomical structure", + "abnormality of nervous system physiology", + "dermatocranium", + "Aplasia/Hypoplasia of the ear (HPO)", + "reproductive system", + "Renal hypoplasia (HPO)", + "Abnormal ear morphology (HPO)", + "abnormal camera-type eye morphology", + "negative regulation of metabolic process", + "ventricular system of brain", + "negative regulation of gene expression", + "bone of free limb or fin", + "decreased size of the anatomical entity in the independent continuant", ], }, { @@ -2249,6 +3595,7 @@ def autocomplete_response(): "HP:0001896", "HP:0000568", "HP:0001518", + "HP:0001263", "HP:0003221", "HP:0009943", "HP:0000978", @@ -2262,978 +3609,1552 @@ def autocomplete_response(): "HP:0003214", "HP:0003213", "HP:0000085", - "HP:0001263", ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", - "Absent radius", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Hyperpigmentation of the skin", - "Anemia", - "Leukemia", - "Duplicated collecting system", - "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney", - "Global developmental delay", + "Ectopic kidney (HPO)", + "Neutropenia (HPO)", + "Absent thumb (HPO)", + "Intellectual disability (HPO)", + "Microcephaly (HPO)", + "Abnormal heart morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Hypergonadotropic hypogonadism (HPO)", + "Renal agenesis (HPO)", + "Anemic pallor (HPO)", + "Pancytopenia (HPO)", + "Cryptorchidism (HPO)", + "Absent radius (HPO)", + "Thrombocytopenia (HPO)", + "Short thumb (HPO)", + "Reticulocytopenia (HPO)", + "Microphthalmia (HPO)", + "Small for gestational age (HPO)", + "Global developmental delay (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Complete duplication of thumb phalanx (HPO)", + "Bruising susceptibility (HPO)", + "Hyperpigmentation of the skin (HPO)", + "Anemia (HPO)", + "Leukemia (HPO)", + "Duplicated collecting system (HPO)", + "Short stature (HPO)", + "Strabismus (HPO)", + "Hearing impairment (HPO)", + "Prolonged G2 phase of cell cycle (HPO)", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Horseshoe kidney (HPO)", ], "has_phenotype_count": 32, "has_phenotype_closure": [ - "HP:0001263", "UPHENO:0082129", - "UPHENO:0041821", - "UPHENO:0049671", - "UPHENO:0051124", - "UPHENO:0049964", + "UPHENO:0019487", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0041075", + "GO:0071704", + "GO:0006807", + "GO:0044238", + "GO:0051716", "HP:0003254", - "HP:0003214", + "UPHENO:0049671", + "GO:0090304", + "GO:0006974", + "GO:0006725", + "GO:0022403", + "GO:0022402", "UPHENO:0049952", - "HP:0000598", - "UPHENO:0052231", + "GO:0051319", + "GO:0051325", + "HP:0011018", + "HP:0003214", + "GO:0046483", + "GO:0007605", + "UPHENO:0002240", + "UPHENO:0052970", + "HP:0031704", "UPHENO:0005518", - "HP:0000365", - "HP:0012373", + "UBERON:0001690", + "UBERON:0002105", + "BFO:0000141", + "HP:0000496", + "UPHENO:0049622", + "UPHENO:0080300", + "UPHENO:0079826", "UPHENO:0049586", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0000549", + "NBO:0000338", "UPHENO:0079828", - "UPHENO:0000543", + "NBO:0000001", + "UBERON:0000015", "UPHENO:0080352", - "UPHENO:0081424", "UPHENO:0080351", + "UBERON:0004100", "HP:0004742", - "UPHENO:0052970", - "UPHENO:0075787", - "HP:0011793", - "HP:0000978", - "HP:0003213", + "HP:0004377", + "HP:0002664", + "UBERON:0000477", + "MPATH:105", + "UBERON:0002049", + "MPATH:603", "UPHENO:0051097", - "HP:0011025", - "UPHENO:0080581", - "HP:0011028", - "HP:0005918", - "UPHENO:0082444", - "UPHENO:0020041", - "UPHENO:0084447", - "HP:0004275", + "HP:0001933", + "GO:0008015", + "GO:0003013", + "UBERON:0007798", + "UPHENO:0002678", "HP:0009942", - "HP:0011018", - "HP:0011314", - "HP:0009998", - "UPHENO:0050116", + "HP:0004275", + "GO:0031049", + "GO:0050789", + "GO:0071840", + "UPHENO:0049873", + "GO:0010558", "HP:0001939", - "HP:0011017", - "UPHENO:0050021", - "UPHENO:0049990", - "HP:0003220", - "UPHENO:0049748", - "HP:0002664", - "UPHENO:0078606", - "HP:0003221", - "HP:0004377", - "UPHENO:0050845", - "UPHENO:0010763", + "UPHENO:0049700", + "HP:0040012", + "GO:0060255", + "GO:0009892", + "GO:0043933", + "GO:0008152", + "GO:0009987", + "UPHENO:0050113", + "UPHENO:0050121", + "UBERON:0010222", + "MPATH:1000", + "GO:0010556", + "GO:0016043", + "GO:0009890", + "GO:0010605", + "GO:0031324", + "GO:0019222", + "GO:0040029", + "GO:0044848", + "GO:0006338", + "HP:0001263", + "GO:0034641", + "HP:0012758", "HP:0004325", - "HP:0004323", + "UPHENO:0082444", + "UPHENO:0054261", + "UPHENO:0010763", + "GO:0040007", + "UPHENO:0082794", "UPHENO:0082761", - "UPHENO:0010795", - "HP:0001507", - "HP:0001518", - "HP:0002597", - "UPHENO:0049874", - "UPHENO:0054299", + "HP:0011017", + "UBERON:0010230", "HP:0000271", - "HP:0000002", - "UPHENO:0069523", - "UPHENO:0002910", - "UPHENO:0003020", + "UPHENO:0075787", + "UBERON:0001456", + "UPHENO:0075219", + "UBERON:0001444", + "HP:0008056", + "UBERON:0000970", + "UPHENO:0080209", + "UPHENO:0080585", + "UPHENO:0075997", + "GO:0050954", + "UBERON:0004456", + "UBERON:0001032", + "UBERON:0000019", "HP:0000568", - "HP:0100887", - "HP:0000478", - "HP:0012372", - "HP:0001896", - "UPHENO:0085263", - "HP:0004312", - "UPHENO:0046624", - "UPHENO:0068971", - "UPHENO:0031839", - "UPHENO:0046411", "UPHENO:0012541", + "UPHENO:0046411", + "UPHENO:0020795", + "UPHENO:0012274", + "HP:0011927", + "HP:0004323", "HP:0009381", - "UPHENO:0041465", - "UPHENO:0046505", - "HP:0000496", - "UPHENO:0087472", - "UPHENO:0046707", - "UPHENO:0080187", - "HP:0002973", - "HP:0031704", - "HP:0040070", - "UPHENO:0086956", - "HP:0002818", - "HP:0006503", + "UPHENO:0046624", "UPHENO:0081511", - "UPHENO:0087501", - "UPHENO:0087510", - "HP:0009822", + "UBERON:0011584", + "HP:0006503", + "HP:0003953", + "HP:0009823", + "HP:0006501", + "UPHENO:0075944", + "UBERON:0003460", + "UBERON:0001423", + "UPHENO:0026128", + "HP:0002973", + "UBERON:0002386", + "UPHENO:0080187", + "UPHENO:0076941", + "UBERON:0015001", "HP:0040072", - "UPHENO:0079872", - "UPHENO:0002751", - "UPHENO:0009341", - "UPHENO:0076718", + "UPHENO:0002719", + "UPHENO:0009399", "UPHENO:0025945", - "HP:0000085", - "HP:0003953", - "HP:0000812", - "UPHENO:0005651", - "HP:0001510", - "UPHENO:0086201", - "UPHENO:0002598", - "UPHENO:0041226", - "UPHENO:0086023", + "UBERON:0010703", + "UPHENO:0002751", + "CL:0000019", + "GO:0003006", + "HP:0009602", + "GO:0048609", + "GO:0000003", + "UPHENO:0052231", + "GO:0032504", + "HP:0012243", + "HP:0004312", "UPHENO:0050101", - "HP:0011927", - "UPHENO:0052778", + "UPHENO:0021474", + "HP:0000811", + "UBERON:0003135", + "UBERON:0003101", "UPHENO:0002597", - "UPHENO:0005597", - "HP:0009825", - "HP:0012874", - "UPHENO:0053644", - "HP:0012243", - "UPHENO:0041629", - "UPHENO:0080382", - "HP:0008669", + "HP:0009778", + "HP:0000812", + "UPHENO:0050108", + "UPHENO:0002371", "UPHENO:0020950", - "UPHENO:0053298", - "UPHENO:0021800", - "UPHENO:0085874", - "HP:0000027", - "HP:0000811", - "HP:0008056", + "UPHENO:0049985", + "UPHENO:0049964", + "GO:0031326", + "CL:0000558", + "HP:0000035", + "GO:0010468", + "HP:0010461", + "UPHENO:0002599", + "CL:0000015", + "GO:0006281", + "GO:0048232", + "GO:0032502", + "GO:0022414", + "UPHENO:0041821", + "UPHENO:0002595", "HP:0000025", - "HP:0009943", - "UPHENO:0087846", - "UPHENO:0086198", - "UPHENO:0078452", + "GO:0007600", + "HP:0012874", + "HP:0000598", + "CL:0000586", + "GO:0007283", + "GO:0007276", + "UPHENO:0019615", + "HP:0008669", + "UBERON:0004053", + "UBERON:0004054", "UPHENO:0049970", - "UPHENO:0021474", - "UPHENO:0002595", - "UPHENO:0084766", - "UPHENO:0002830", - "UPHENO:0076675", - "HP:0011276", - "UPHENO:0084448", - "HP:0002817", - "HP:0009601", - "HP:0100542", - "HP:0009777", - "UPHENO:0003055", - "HP:0011297", - "UPHENO:0012274", - "UPHENO:0085118", - "UPHENO:0088148", - "UPHENO:0084761", - "UPHENO:0081566", - "HP:0011121", - "UPHENO:0002964", - "UPHENO:0087349", - "UPHENO:0081451", - "UPHENO:0080099", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", + "UBERON:0000473", + "CL:0000413", + "UPHENO:0080382", + "UBERON:0000079", + "CL:0000039", + "UPHENO:0005016", + "UPHENO:0078729", + "UPHENO:0021561", + "HP:0000315", + "CL:0002092", + "HP:0011875", + "GO:0006950", + "GO:0031327", + "HP:0001872", + "HP:0001876", + "CL:0000458", + "CL:0001035", + "HP:0001873", + "HP:0012145", + "CL:0000233", + "HP:0005561", + "UPHENO:0080581", + "UPHENO:0002598", + "CL:0000151", + "HP:0000980", + "GO:0019953", + "CL:0000764", + "HP:0012373", + "CL:0000232", + "CL:0000408", + "CL:0000329", + "UPHENO:0025100", + "UPHENO:0008593", + "GO:0050794", + "HP:0000104", + "UBERON:0005156", + "UBERON:0003133", + "HP:0000135", + "HP:0000022", + "UBERON:0000990", + "HP:0012733", + "UPHENO:0001005", + "UPHENO:0054957", + "UPHENO:0021284", + "HP:0011446", + "UPHENO:0050008", + "UPHENO:0003116", + "UPHENO:0076739", + "GO:0048523", + "UPHENO:0054970", + "HP:0000957", + "HP:0009997", + "HP:0001034", + "HP:0000951", + "UPHENO:0080362", + "HP:0001518", + "UBERON:0015228", + "UPHENO:0080221", + "UBERON:0002075", + "UBERON:0005181", + "NBO:0000313", + "HP:0000119", + "UBERON:0004535", + "UBERON:0007100", + "GO:0048519", + "UBERON:0000991", + "HP:0040070", + "UBERON:0002090", + "UBERON:0000948", + "UBERON:0001017", + "HP:0001172", + "HP:0000240", "UPHENO:0081435", - "UPHENO:0049588", + "UPHENO:0002910", + "HP:0009121", + "HP:0002011", + "HP:0009815", + "HP:0040195", + "HP:0011961", + "UPHENO:0003811", + "UPHENO:0076702", + "HP:0011028", + "UPHENO:0049367", + "UBERON:0011250", + "UPHENO:0022529", + "UPHENO:0000543", + "UBERON:0002471", + "UPHENO:0076718", + "UBERON:0010323", + "UBERON:0000047", "UPHENO:0026023", - "HP:0012733", - "HP:0005922", - "UPHENO:0079826", - "HP:0009142", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0084763", - "UPHENO:0086633", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0086700", - "UPHENO:0086019", - "UPHENO:0011498", - "HP:0011991", - "UPHENO:0074589", - "HP:0001872", - "HP:0009115", - "UPHENO:0080079", - "HP:0011844", - "HP:0000707", - "UPHENO:0086172", - "UPHENO:0006910", - "HP:0001909", - "UPHENO:0087123", - "HP:0006265", - "UPHENO:0087089", - "HP:0001933", - "UPHENO:0035025", - "UPHENO:0088321", - "HP:0001892", - "HP:0000315", - "UPHENO:0021561", - "UPHENO:0085189", - "UPHENO:0080200", - "UPHENO:0088338", - "HP:0011354", + "HP:0000929", + "UPHENO:0010795", + "UBERON:0015023", + "UBERON:0003607", + "UPHENO:0076805", + "UPHENO:0002830", + "HP:0007364", + "UBERON:0002097", + "HP:0000152", + "UBERON:0001890", "UPHENO:0005433", - "UPHENO:0080114", - "HP:0000081", - "UPHENO:0085873", + "BFO:0000002", + "UPHENO:0082682", + "NCBITaxon:33154", "HP:0000234", + "HP:0100547", + "UBERON:0011138", + "HP:0002060", + "NCBITaxon:6072", + "UBERON:0000073", + "UPHENO:0025211", + "UBERON:0003129", + "HP:0007400", + "HP:0012639", "HP:0012443", - "UPHENO:0087355", - "UPHENO:0002678", - "UPHENO:0049873", - "HP:0005561", - "UPHENO:0002708", - "UPHENO:0080209", - "UPHENO:0087802", - "HP:0001000", - "HP:0000079", + "HP:0000027", + "UPHENO:0081566", + "UBERON:0004175", + "UPHENO:0074584", "HP:0012638", + "HP:0000707", + "HP:0001249", + "UPHENO:0024906", + "UBERON:0015204", + "HP:0002818", + "HP:0012759", + "GO:0050890", + "UPHENO:0005597", + "UPHENO:0002378", + "UPHENO:0082875", + "UPHENO:0059829", + "HP:0005922", + "UBERON:0001016", + "UBERON:0012358", + "UBERON:0001008", + "UBERON:0012357", + "UBERON:0001437", + "UPHENO:0049587", + "UBERON:0002470", + "UPHENO:0002844", + "HP:0011025", + "HP:0009943", + "UBERON:0034923", + "UBERON:0002390", "UPHENO:0079876", - "UPHENO:0053580", - "HP:0000118", - "HP:0009997", - 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"UBERON:0000463", + "CL:0000225", + "UPHENO:0001003", + "HP:0009142", + "UPHENO:0001002", ], "has_phenotype_closure_label": [ - "Neurodevelopmental delay", - "shape anatomical entity in independent continuant", - "3-D shape anatomical entity", "concave 3-D shape anatomical entity", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Hearing impairment", - "Hearing abnormality", - "Abnormality of the ear", - "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal shape of continuant", + "shape anatomical entity in independent continuant", + "shape kidney", + "abnormal cellular response to DNA damage stimulus", + "DNA metabolic process", + "response to stimulus", + "abnormal DNA repair", + "Abnormality of DNA repair (HPO)", + "nucleic acid metabolic process", + "DNA damage response", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "heterocycle metabolic process", + "organic substance metabolic process", + "primary metabolic process", + "cellular metabolic process", + "cellular response to stimulus", + "Abnormality of the cell cycle (HPO)", + "biological phase", + "Prolonged G2 phase of cell cycle (HPO)", + "cell cycle phase", + "cell cycle process", + "Abnormal ear physiology (HPO)", + "sensory perception of mechanical stimulus", + "abnormal sensory perception", "abnormality of ear physiology", - "Abnormal eye physiology", - "abnormal behavior process", + "decreased qualitatively sensory perception of sound", + "decreased sensory perception of sound", + "Hearing impairment (HPO)", + "ear", + "immaterial entity", "abnormal behavior", - "Abnormal conjugate eye movement", - "Atypical behavior", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Abnormality of body height", - "Growth delay", - "decreased size of the multicellular organism", + "eye movement", + "abnormal response to stimulus", + "kinesthetic behavior", + "behavior process", + "abnormality of camera-type eye physiology", + "anatomical line", + "abnormal behavior process", + "Strabismus (HPO)", + "abnormal size of multicellular organism", "delayed biological_process", - "abnormal renal collecting system", + "decreased size of the multicellular organism", "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm by anatomical site", - "Neoplasm", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", + "cellular aromatic compound metabolic process", + "delayed growth", + "Duplicated collecting system (HPO)", + "Leukemia (HPO)", + "Hematological neoplasm (HPO)", + "vasculature", + "Abnormality of the vasculature (HPO)", + "Vascular skin abnormality (HPO)", + "pathological phenotype observation", + "Abnormal bleeding (HPO)", + "abnormality of multicellular organism height", + "Internal hemorrhage (HPO)", + "Bruising susceptibility (HPO)", + "cellular nitrogen compound metabolic process", + "Subcutaneous hemorrhage (HPO)", + "abnormality of cardiovascular system physiology", + "Abnormal cardiovascular system physiology (HPO)", + "circulatory system process", "abnormal vasculature", - "Vascular skin abnormality", - "Internal hemorrhage", - "Complete duplication of thumb phalanx", - "Duplication of thumb phalanx", - "Duplication of bones involving the upper extremities", - "shape kidney", - "Duplication of phalanx of hand", - "Duplication of hand bones", - "Abnormality of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "abnormal cellular process", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", + "Duplication of hand bones (HPO)", + "Duplication of phalanx of hand (HPO)", + "Abnormal cellular physiology (HPO)", + "Abnormality of metabolism/homeostasis (HPO)", + "negative regulation of macromolecule metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "regulation of cellular process", + "negative regulation of biological process", + "negative regulation of gene expression", + "metabolic process", + "cellular process", "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Small for gestational age", - "Decreased anatomical entity mass", - "abnormality of anatomical entity mass", + "Chromosome breakage (HPO)", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "abnormal cellular process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "protein-containing complex organization", + "response to stress", + "cellular component organization", + "regulation of biological process", + "growth", + "Growth abnormality (HPO)", "decreased multicellular organism mass", - "Decreased multicellular organism mass", - "Abnormality of body weight", - "abnormality of multicellular organism mass", - "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face", - "Abnormality of the orbital region", - "abnormal face morphology", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "Abnormal reticulocyte morphology", - "decreased length of digit", - "Short finger", - "decreased length of manual digit 1", - "Short digit", - "decreased length of anatomical entity in independent continuant", + "Abnormality of thumb phalanx (HPO)", + "Decreased body weight (HPO)", + "entire sense organ system", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "Microphthalmia (HPO)", + "Abnormal eye morphology (HPO)", + "simple eye", + "visual system", + "eye", + "orbital region", + "negative regulation of metabolic process", + "abnormal camera-type eye morphology", + "face", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of the face (HPO)", + "Short stature (HPO)", + "camera-type eye", + "Neoplasm (HPO)", + "Abnormality of globe size (HPO)", + "Abnormality of the eye (HPO)", + "Reticulocytopenia (HPO)", + "decreased size of the anatomical entity in the pectoral complex", "decreased length of manual digit", - "decreased size of the anatomical entity", + "decreased length of digit", + "Short thumb (HPO)", "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving forearm bones", - "Abnormal upper limb bone morphology", - "Absent forearm bone", - "Absent radius", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "absent radius bone", - "Global developmental delay", - "Abnormality of the cell cycle", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "decreased anatomical entity mass", - "abnormal long bone morphology", + "decreased size of the anatomical entity", + "decreased length of manual digit 1", + "sensory perception", + "decreased length of anatomical entity", + "Aplasia involving bones of the extremities (HPO)", + "Abnormality of forearm bone (HPO)", + "Decreased multicellular organism mass", + "Aplasia involving bones of the upper limbs (HPO)", + "absent radius bone in the independent continuant", + "forelimb zeugopod skeleton", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "zeugopod", + "radius endochondral element", + "arm bone", + "radius bone", "absent forelimb zeugopod bone", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "abnormal forelimb zeugopod bone", + "body part movement", "absent radius bone in the forelimb", - "absent radius bone in the independent continuant", - "abnormally localised testis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal response to stress", - "decreased developmental process", - "Abnormal external genitalia", + "absent radius bone", + "Complete duplication of phalanx of hand (HPO)", + "Absent forearm bone (HPO)", + "abnormal forelimb zeugopod", + "male organism", + "abnormal reproductive process", + "decreased qualitatively developmental process", "decreased qualitatively reproductive process", + "decreased qualitatively biological_process", + "Complete duplication of thumb phalanx (HPO)", + "Abnormality of chromosome stability (HPO)", "abnormal multicellular organismal reproductive process", - "Abnormal male reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormality of internal male genitalia physiology", - "abnormal spermatogenesis", - "Abnormal testis morphology", - "Cryptorchidism", - "abnormal testis morphology", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", - "abnormality of male reproductive system physiology", + "Abnormality of blood circulation (HPO)", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "external male genitalia", + "Abnormal testis morphology (HPO)", "abnormal developmental process", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "abnormal forelimb morphology", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal neutrophil count", - "abnormal sensory perception", - "abnormal manus", - "abnormal manus morphology", - "Abnormality of limb bone", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "agenesis of anatomical entity", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Short thumb", - "abnormal manual digit 1 morphology", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "phenotype by ontology source", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal cellular phenotype", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormally decreased number of neutrophil", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormality of blood and blood-forming tissues", - "Abnormality of multiple cell lineages in the bone marrow", - "absent gamete", - "abnormal hematopoietic cell morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Abnormal cellular immune system morphology", - "abnormal brain morphology", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", - "Abnormality of eye movement", - "Abnormality of the urinary system", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "Global developmental delay (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "sperm", + "external genitalia", + "anatomical cluster", + "internal genitalia", "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "Abnormal morphology of the radius", + "semen", + "Absent radius (HPO)", + "decreased developmental process", + "Abnormal spermatogenesis (HPO)", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal developmental process involved in reproduction", + "abnormality of male reproductive system physiology", + "abnormally localised testis", + "abnormal external male genitalia", + "abnormal male reproductive system", "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormality of skull size", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Aplasia involving bones of the extremities", - "increased qualitatively biological_process", - "All", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "quality", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "Abnormal platelet morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal digit", - "abnormally localised anatomical entity in independent continuant", - "abnormal limb", - "abnormal cell", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "absent manual digit", - "abnormal phenotype by ontology source", - "abnormal genitourinary system", - "Abnormal appendicular skeleton morphology", - "abnormally localised anatomical entity", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "abnormal anatomical entity topology in independent continuant", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormally decreased number of cell in the independent continuant", - "Neutropenia", - "abnormally decreased number of anatomical entity in the independent continuant", - "Decreased body weight", - "decreased qualitatively developmental process", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal neutrophil", - "Abnormality of the skin", - "abnormal granulocyte morphology", - "Abnormal leukocyte count", - "abnormal reproductive process", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of leukocyte in the independent continuant", - "continuant", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "Abnormality of brain morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "abnormal immune system", - "Short stature", + "abnormality of internal male genitalia physiology", + "Pancytopenia (HPO)", + "sexual reproduction", + "anucleate cell", + "abnormal male reproductive organ morphology", + "bone marrow", + "secretory cell", + "abnormal orbital region", + "bone marrow cell", + "Hearing abnormality (HPO)", + "platelet", + "biogenic amine secreting cell", "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", + "serotonin secreting cell", + "germ line cell", + "bone cell", + "Abnormality of thrombocytes (HPO)", + "oxygen accumulating cell", + "Pallor (HPO)", + "absent kidney", + "zeugopodial skeleton", + "male gamete generation", + "Renal agenesis (HPO)", + "non-material anatomical boundary", + "Renal hypoplasia/aplasia (HPO)", + "Abnormality of the genital system (HPO)", + "nitrogen compound metabolic process", + "abnormal sensory perception of sound", + "abnormal testis morphology", + "reproductive system", + "Puberty and gonadal disorders (HPO)", + "changed developmental process rate", + "neutrophil", + "Hypergonadotropic hypogonadism (HPO)", + "glandular system", + "aplastic forelimb zeugopod bone", + "Abnormality of the endocrine system (HPO)", + "manual digit plus metapodial segment", + "Hypogonadism (HPO)", + "abnormal endocrine system", + "reproductive organ", + "digit 1 digitopodial skeleton", + "gonad", + "Abnormal reticulocyte morphology (HPO)", + "animal cell", + "regional part of brain", + "abnormality of reproductive system physiology", + "eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "increased qualitatively biological_process in independent continuant", + "Macule (HPO)", + "abnormal growth", + "Abnormal internal genitalia (HPO)", + "increased biological_process in skin of body", + "abnormal skin of body morphology", + "multicellular organismal reproductive process", + "Abnormal cell morphology (HPO)", + "Abnormality of the integument (HPO)", + "viscus", + "integumental system", + "abnormal eyeball of camera-type eye", + "abnormal pigmentation in independent continuant", + "Abnormality of the orbital region (HPO)", + "erythrocyte", "abnormal limb bone morphology", - "absent anatomical entity", - "abnormal limb morphology", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal developmental process involved in reproduction", - "Abnormality of the immune system", - "Thrombocytopenia", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Abnormality of reproductive system physiology (HPO)", + "increased qualitatively biological_process", + "reticulocyte", + "abnormal central nervous system morphology", "increased biological_process", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "absent germ cell", + "abnormal metabolic process", "changed biological_process rate", - "increased biological_process in skin of body", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", + "Irregular hyperpigmentation (HPO)", + "absent anatomical entity in the forelimb", + "abnormal skin of body", + "abnormal integument", + "Abnormal renal collecting system morphology (HPO)", + "sense organ", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "circulatory system", + "Abnormality of the cardiovascular system (HPO)", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "head", + "Hyperpigmentation of the skin (HPO)", + "cardiovascular system", + "abnormal cardiovascular system morphology", + "circulatory organ", + "primary circulatory organ", + "vascular system", + "thoracic segment of trunk", + "thoracic segment organ", + "upper limb segment", + "Morphological central nervous system abnormality (HPO)", + "heart", + "abnormal cardiovascular system", "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Aplasia involving forearm bones", - "Abnormality of skin pigmentation", - "Abnormality of the head", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Decreased head circumference", - "abnormal external genitalia", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", + "manual digit 1 plus metapodial segment", + "telencephalon", + "Opisthokonta", + "absent anatomical entity", + "central nervous system", + "structure with developmental contribution from neural crest", + "abnormal brain morphology", "aplasia or hypoplasia of telencephalon", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "abnormal telencephalon morphology", - "abnormal size of skull", - "Abnormal internal genitalia", - "Abnormal skull morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "Morphological central nervous system abnormality", - "Abnormal myeloid leukocyte morphology", + "Azoospermia (HPO)", + "cranial skeletal system", + "organism", + "Localized skin lesion (HPO)", + "abnormal skull morphology", + "body proper", + "Abnormal renal morphology (HPO)", + "nervous system process", + "Abnormal axial skeleton morphology (HPO)", + "abnormal size of anatomical entity", + "shape anatomical entity", + "digit 1", + "regional part of nervous system", "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "abnormal phalanx of manus morphology", + "multicellular organism reproduction", + "Metazoa", + "axial skeleton plus cranial skeleton", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "Abnormal skull morphology (HPO)", + "decreased height of the multicellular organism", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "reproductive process", + "abnormal pigmentation", + "Neoplasm by anatomical site (HPO)", + "phalanx", + "Abnormality of head or neck (HPO)", + "root", + "Abnormality of the ear (HPO)", + "protein-containing material entity", + "subdivision of skeleton", + "biological_process", + "system process", + "Intellectual disability (HPO)", + "multicellular organismal process", + "Abnormal eye physiology (HPO)", + "Neurodevelopmental abnormality (HPO)", + "pigmentation", "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", - "delayed growth", - "abnormal cardiovascular system", - "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", - "abnormal skin of body", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal integument", + "Abnormality of the nervous system (HPO)", + "cognition", + "aplasia or hypoplasia of radius bone", + "main body axis", + "cellular organisms", + "skin of body", "abnormal biological_process", - "Macule", - "Cafe-au-lait spot", - "increased pigmentation in skin of body", - "abnormal pigmentation", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "increased pigmentation", - "increased pigmentation in independent continuant", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", + "multi-tissue structure", + "organ system subdivision", + "Phenotypic abnormality (HPO)", + "process", + "absent epiphysis of phalanx of manus in the independent continuant", + "abnormality of anatomical entity physiology", + "skeletal element", + "abnormal DNA metabolic process", + "forelimb", + "Abnormal erythroid lineage cell morphology (HPO)", + "abnormal kidney", + "acropodial skeleton", + "abnormal arm", + "Microcephaly (HPO)", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "Anemic pallor (HPO)", + "abnormal bone of pectoral complex morphology", + "Abnormal conjugate eye movement (HPO)", + "system", + "Abnormal hand morphology (HPO)", + "trunk region element", + "pectoral complex", + "abnormal spermatogenesis", + "germ cell", + "segment of manus", + "abnormal anatomical entity morphology in the independent continuant", + "digit 1 or 5", + "absent manual digit", + "G2 phase", + "manual digitopodium region", + "gamete", + "organ part", + "cell cycle", + "male reproductive organ", + "reproductive structure", + "manual digit 1 or 5", + "abnormal reproductive system", + "absent epiphysis of phalanx of manus in the phalanx of manus", + "aplasia or hypoplasia of manual digit", + "abnormal epiphysis morphology in the independent continuant", + "phenotype", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal manus", + "absent anatomical entity in the phalanx of manus", + "Generalized abnormality of skin (HPO)", + "Abnormality of bone marrow cell morphology (HPO)", + "zone of long bone", + "arm", + "long bone", + "Thrombocytopenia (HPO)", + "Abnormality of forebrain morphology (HPO)", + "bone of appendage girdle complex", + "Horseshoe kidney (HPO)", + "abnormal postcranial axial skeleton morphology", + "aplasia or hypoplasia of manual digit 1", + "skeleton of manus", + "nervous system", + "skeleton of limb", + "vestibulo-auditory system", + "forelimb endochondral element", "increased biological_process in independent continuant", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased qualitatively biological_process in independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal platelet", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Aplasia of the fingers", - "Hypergonadotropic hypogonadism", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the endocrine system", - "Pancytopenia", - "Hypogonadism", - "Abnormality of reproductive system physiology", - "abnormal hematopoietic system", - "Renal agenesis", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "abnormal response to stress", + "epiphysis of phalanx of manus", + "Abnormality of brain morphology (HPO)", + "chromatin remodeling", "absent kidney in the independent continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "Anemic pallor", - "abnormal bone marrow cell morphology", - "Anemia", - "abnormal bone marrow cell", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal platelet morphology", - "abnormally decreased number of platelet", - "abnormal number of anatomical enitites of type platelet", - "Abnormality of male external genitalia", - "abnormal male reproductive organ morphology", - "changed developmental process rate", - "absent sperm in the independent continuant", - ], - }, - { - "id": "MONDO:0001083", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", + "abnormal digit", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", + "abnormal cellular metabolic process", + "acropodium region", + "increased pigmentation in skin of body", + "manual digit 1", + "abnormal radius bone", + "digit plus metapodial segment", + "Abnormal digit morphology (HPO)", + "multi-limb segment region", + "immaterial anatomical entity", + "blood circulation", + "Abnormal reproductive system morphology (HPO)", + "endochondral element", + "subdivision of trunk", + "abdomen element", + "Hypermelanotic macule (HPO)", + "abnormal anatomical entity morphology in the pectoral complex", + "endocrine system", + "skull", + "digit 1 plus metapodial segment", + "trunk", + "multicellular anatomical structure", + "autopodial skeleton", + "abnormal anatomical entity morphology in the skeleton of manus", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Cryptorchidism (HPO)", + "Abnormal immune system morphology (HPO)", + "decreased spermatogenesis", + "manual digit bone", + "decreased anatomical entity mass", + "anatomical entity dysfunction in independent continuant", + "increased pigmentation", + "DNA repair", + "abnormal renal collecting system", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "immune system", + "Abnormal cellular immune system morphology (HPO)", + "myeloid cell", + "abnormal phalanx morphology", + "forelimb bone", + "interphase", + "obsolete cell", + "Abnormal erythrocyte morphology (HPO)", + "epiphysis", + "Neurodevelopmental delay (HPO)", + "cavitated compound organ", + "Abnormal heart morphology (HPO)", + "abnormally localised anatomical entity in independent continuant", + "musculoskeletal system", + "Abnormality of limb epiphysis morphology (HPO)", + "compound organ", + "autopod region", + "upper urinary tract", + "abnormally decreased functionality of the anatomical entity", + "skeletal system", + "U-shaped anatomical entity", + "manual digit 1 phalanx endochondral element", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "chromatin organization", + "sensory system", + "manual digit 1 phalanx", + "abnormal upper urinary tract", + "macromolecule metabolic process", + "bone of pectoral complex", + "superficial fascia", + "abnormal skeletal system morphology", + "manual digitopodium bone", + "abnormal craniocervical region", + "Abnormal myeloid leukocyte morphology (HPO)", + "Abnormal upper limb bone morphology (HPO)", + "phalanx endochondral element", + "limb skeleton subdivision", + "hemolymphoid system", + "Decreased anatomical entity mass", + "Abnormal appendicular skeleton morphology (HPO)", + "mesoderm-derived structure", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "Abnormal skeletal morphology (HPO)", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", + "abnormal external genitalia", + "abnormal heart morphology", + "limb long bone", + "decreased length of anatomical entity in independent continuant", + "autopod endochondral element", + "phalanx of manus", + "autopod bone", + "manual digit 1 digitopodial skeleton", + "abnormal eye movement", + "subdivision of organism along appendicular axis", + "absent manual digit 1", + "gamete generation", + "Abnormality of skin morphology (HPO)", + "absent anatomical entity in the limb", + "zone of bone organ", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "motile cell", + "paired limb/fin", + "sensory perception of sound", + "abnormal phalanx of manus morphology", + "abnormal size of eyeball of camera-type eye", + "abnormal face", + "aplastic anatomical entity", + "abnormal biological_process in independent continuant", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "abnormality of multicellular organism mass", + "Short finger (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "eukaryotic cell", + "subdivision of head", + "Abnormality of epiphysis morphology (HPO)", + "integument", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of limb bone morphology (HPO)", + "Abnormality of the hand (HPO)", + "abnormal cell cycle", + "abnormal ear", + "abdominal segment element", + "absent digit", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "abnormal manus morphology", + "cell", + "phenotype by ontology source", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "forelimb long bone", + "heart plus pericardium", + "skeleton", + "manus bone", + "absent kidney in the renal system", + "Abnormal leukocyte morphology (HPO)", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "Abnormal platelet count (HPO)", + "abnormal manual digit 1 morphology", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "regulation of macromolecule metabolic process", + "aplastic manual digit 1", + "continuant", + "Small for gestational age (HPO)", + "Abnormal nervous system physiology (HPO)", + "appendage", + "Abnormality of cardiovascular system morphology (HPO)", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "abnormal epiphysis of phalanx of manus morphology", + "abnormal cellular component organization", + "appendicular skeletal system", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "anatomical collection", + "internal male genitalia", + "occurrent", + "axial skeletal system", + "skeleton of manual digitopodium", + "cellular response to stress", + "absent anatomical entity in the independent continuant", + "autopodial extension", + "absent anatomical entity in the multicellular organism", + "anterior region of body", + "abnormal nervous system", + "male germ cell", + "lateral structure", + "limb", + "endochondral bone", + "absent epiphysis in the independent continuant", + "absent epiphysis", + "Abnormality of thumb epiphysis (HPO)", + "brain", + "increased pigmentation in independent continuant", + "Absent epiphyses of the thumb (HPO)", + "Growth delay (HPO)", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "abnormally decreased functionality of the gonad", + "abnormal limb bone", + "granulocyte", + "Abnormality of the upper urinary tract (HPO)", + "Anemia (HPO)", + "Abnormal thumb morphology (HPO)", + "Absent thumb (HPO)", + "abnormal blood circulation", + "bone of free limb or fin", + "decreased qualitatively sensory perception of mechanical stimulus", + "Aplasia involving forearm bones (HPO)", + "native cell", + "paired limb/fin segment", + "absent anatomical entity in the skeletal system", + "Short digit (HPO)", + "abnormal limb long bone morphology", + "manual digit", + "Abnormal granulocyte count (HPO)", + "Abnormality of the forearm (HPO)", + "postcranial axial skeleton", + "Abnormality of the immune system (HPO)", + "pectoral appendage skeleton", + "nucleate cell", + "skeleton of manual acropodium", + "excretory system", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Abnormality of eye movement (HPO)", + "decreased size of the eyeball of camera-type eye", + "appendage girdle complex", + "Abnormal myeloid cell morphology (HPO)", + "Abnormality of neutrophils (HPO)", + "agenesis of anatomical entity", + "abnormal renal system", + "epigenetic regulation of gene expression", + "abnormally localised kidney", + "Cafe-au-lait spot (HPO)", + "abnormal size of skull", + "Neutropenia (HPO)", + "hematopoietic cell", + "Abnormal granulocyte morphology (HPO)", + "abnormal forelimb zeugopod bone", + "Decreased head circumference (HPO)", + "disconnected anatomical group", + "hematopoietic system", + "abnormal forebrain morphology", + "digitopodium region", + "Abnormal neutrophil count (HPO)", + "abnormal immune system", + "Abnormal external genitalia (HPO)", + "Abnormality of the kidney (HPO)", + "protein-DNA complex organization", + "organ", + "programmed DNA elimination by chromosome breakage", + "organism subdivision", + "Behavioral abnormality (HPO)", + "developmental process involved in reproduction", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "abnormal multicellular organism morphology", + "abnormal kidney morphology", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "Duplication of bones involving the upper extremities (HPO)", + "All (HPO)", + "behavior", + "erythroid lineage cell", + "blood cell", + "abnormal epiphysis morphology in the skeleton of manus", + "U-shaped kidney", + "material anatomical entity", + "material entity", + "abnormality of nervous system physiology", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "organism substance", + "Abnormal leukocyte count (HPO)", + "pectoral appendage", + "multicellular organism", + "abnormal location of anatomical entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "abnormal long bone morphology", + "entity", + "aplasia or hypoplasia of anatomical entity", + "enucleated reticulocyte", + "forelimb zeugopod bone", + "quality", + "3-D shape anatomical entity in independent continuant", + "anatomical system", + "abnormal anatomical entity morphology", + "Duplication of thumb phalanx (HPO)", + "appendicular skeleton", + "abdomen", + "male reproductive system", + "limb bone", + "leukocyte", + "renal collecting system", + "Cognitive impairment (HPO)", + "zone of organ", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", + "abnormal limb", + "tissue", + "Abnormality of skin pigmentation (HPO)", + "anatomical structure", + "renal system", + "epiphysis of phalanx", + "myeloid leukocyte", + "non-connected functional system", + "abnormally localised anatomical entity", + "anatomical line between pupils", + "Abnormal localization of kidney (HPO)", + "male gamete", + "ectoderm-derived structure", + "specifically dependent continuant", + "abnormal nervous system morphology", + "abnormality of anatomical entity mass", + "bone element", + "kidney", + "individual digit of digitopodial skeleton", + "abnormal internal genitalia", + "somatic cell", + "Abnormal platelet morphology (HPO)", + "Abnormal cerebral morphology (HPO)", + "testis", + "craniocervical region", + "Abnormality of upper limb epiphysis morphology (HPO)", + "3-D shape anatomical entity", + "Abnormal cellular phenotype (HPO)", + "cellular component organization or biogenesis", + "abnormal digit morphology", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the manus", + "Abnormal nervous system morphology (HPO)", + "Abnormality of skull size (HPO)", + "absent anatomical entity in the renal system", + "abnormal hematopoietic system", + "subdivision of organism along main body axis", + "aplasia or hypoplasia of skeleton", + "abnormal cellular response to stress", + "independent continuant", + "limb endochondral element", + "anatomical entity", + "thoracic cavity element", + "abnormal phenotype by ontology source", + "Abnormality of the skin (HPO)", + "reproduction", + "Abnormality of limbs (HPO)", + "abnormal telencephalon morphology", + "Ectopic kidney (HPO)", + ], + }, + { + "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.", @@ -3284,7 +5205,6 @@ def autocomplete_response(): "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0005344", "HP:0002023", "HP:0001824", @@ -3298,18 +5218,19 @@ def autocomplete_response(): "HP:0001882", "HP:0002863", "HP:0002119", - "HP:0001510", + "HP:0001562", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006824", "HP:0006265", @@ -3381,2058 +5302,3136 @@ def autocomplete_response(): "HP:0001000", ], "has_phenotype_label": [ - "Upslanted palpebral fissure", - "Absent testis", - "Abnormal pinna morphology", - "Tracheoesophageal fistula", - "Astigmatism", - "Hydrocephalus", - "Intellectual disability", - "Abnormal preputium morphology", - "Arteriovenous malformation", - "Abnormal morphology of ulna", - "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", - "Abnormal carotid artery morphology", - "Anal atresia", - "Weight loss", - "Cataract", - "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", - "Microcephaly", - "Leukopenia", - "Myelodysplasia", - "Ventriculomegaly", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the hypothalamus-pituitary axis", - "Hypertelorism", - "Azoospermia", - "Oligohydramnios", - "Duodenal stenosis", - "Clubbing of toes", - "Abnormal localization of kidney", - "Decreased fertility in males", - "Aplasia/Hypoplasia of the uvula", - "Renal hypoplasia/aplasia", - "Multiple cafe-au-lait spots", - "Cranial nerve paralysis", - "Aplasia/Hypoplasia of fingers", - "Finger syndactyly", - "Reduced bone mineral density", - "Clinodactyly of the 5th finger", - "Hypoplasia of the ulna", - "Hip dislocation", - "Abnormality of femur morphology", - "Spina bifida", - "Aganglionic megacolon", - "Meckel diverticulum", - "Frontal bossing", - "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", - "Umbilical hernia", - "Intrauterine growth retardation", - "Hyperreflexia", - "Triphalangeal thumb", - "Bicornuate uterus", - "Nystagmus", - "Microphthalmia", - "Proptosis", - "Visual impairment", - "Abnormality of vision", - "Abnormal eyelid morphology", - "Strabismus", - "Abnormality of the eye", - "Hearing impairment", - "Hearing abnormality", - "Micrognathia", - "Sloping forehead", - "Facial asymmetry", - "Epicanthus", - "Dolichocephaly", - "High palate", - "Cleft palate", - "Hypogonadism", - "Abnormality of the uterus", - "Renal insufficiency", - "Hydroureter", - "Abnormal testis morphology", - "Cryptorchidism", - "Recurrent urinary tract infections", - "Short palpebral fissure", - "Abnormal renal morphology", - "Neoplasm", - "Abnormal cardiac septum morphology", - "Global developmental delay", - "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", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Abnormal thumb morphology", - "Hypopigmented skin patches", - "Abnormality of skin pigmentation", + "Upslanted palpebral fissure (HPO)", + "Absent testis (HPO)", + "Abnormal pinna morphology (HPO)", + "Tracheoesophageal fistula (HPO)", + "Astigmatism (HPO)", + "Hydrocephalus (HPO)", + "Intellectual disability (HPO)", + "Abnormal preputium morphology (HPO)", + "Arteriovenous malformation (HPO)", + "Abnormal morphology of ulna (HPO)", + "Abnormal nervous system morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Anal atresia (HPO)", + "Weight loss (HPO)", + "Cataract (HPO)", + "Ptosis (HPO)", + "Choanal atresia (HPO)", + "Hypospadias (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Scoliosis (HPO)", + "Microcephaly (HPO)", + "Leukopenia (HPO)", + "Myelodysplasia (HPO)", + "Ventriculomegaly (HPO)", + "Oligohydramnios (HPO)", + "Abnormality of the liver (HPO)", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Hypertelorism (HPO)", + "Azoospermia (HPO)", + "Growth delay (HPO)", + "Duodenal stenosis (HPO)", + "Clubbing of toes (HPO)", + "Abnormal localization of kidney (HPO)", + "Decreased fertility in males (HPO)", + "Aplasia/Hypoplasia of the uvula (HPO)", + "Renal hypoplasia/aplasia (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "Multiple cafe-au-lait spots (HPO)", + "Cranial nerve paralysis (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Finger syndactyly (HPO)", + "Reduced bone mineral density (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "Hypoplasia of the ulna (HPO)", + "Hip dislocation (HPO)", + "Abnormality of femur morphology (HPO)", + "Spina bifida (HPO)", + "Aganglionic megacolon (HPO)", + "Meckel diverticulum (HPO)", + "Frontal bossing (HPO)", + "Toe syndactyly (HPO)", + "Pes planus (HPO)", + "Abnormal foot morphology (HPO)", + "Abnormal aortic morphology (HPO)", + "Abnormal aortic valve morphology (HPO)", + "Patent ductus arteriosus (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "Tetralogy of Fallot (HPO)", + "Atrial septal defect (HPO)", + "Umbilical hernia (HPO)", + "Intrauterine growth retardation (HPO)", + "Hyperreflexia (HPO)", + "Triphalangeal thumb (HPO)", + "Bicornuate uterus (HPO)", + "Nystagmus (HPO)", + "Microphthalmia (HPO)", + "Proptosis (HPO)", + "Visual impairment (HPO)", + "Abnormality of vision (HPO)", + "Abnormal eyelid morphology (HPO)", + "Strabismus (HPO)", + "Abnormality of the eye (HPO)", + "Hearing impairment (HPO)", + "Hearing abnormality (HPO)", + "Micrognathia (HPO)", + "Sloping forehead (HPO)", + "Facial asymmetry (HPO)", + "Epicanthus (HPO)", + "Dolichocephaly (HPO)", + "High palate (HPO)", + "Cleft palate (HPO)", + "Hypogonadism (HPO)", + "Abnormality of the uterus (HPO)", + "Renal insufficiency (HPO)", + "Hydroureter (HPO)", + "Abnormal testis morphology (HPO)", + "Cryptorchidism (HPO)", + "Recurrent urinary tract infections (HPO)", + "Short palpebral fissure (HPO)", + "Abnormal renal morphology (HPO)", + "Neoplasm (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "Global developmental delay (HPO)", + "Abnormality of the urinary system (HPO)", + "Irregular hyperpigmentation (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "Short stature (HPO)", + "Abnormality of chromosome stability (HPO)", + "Abnormality of the upper limb (HPO)", + "Anemia (HPO)", + "Thrombocytopenia (HPO)", + "Abnormality of blood and blood-forming tissues (HPO)", + "Abnormal thumb morphology (HPO)", + "Hypopigmented skin patches (HPO)", + "Abnormality of skin pigmentation (HPO)", ], "has_phenotype_count": 106, "has_phenotype_closure": [ - "UPHENO:0042775", - "UPHENO:0077885", - "HP:0001053", "UPHENO:0077872", - "UPHENO:0077892", - "UPHENO:0086005", - "UPHENO:0086049", - "UPHENO:0085189", - "UPHENO:0084987", - "UPHENO:0086173", - "UPHENO:0085070", - "HP:0001939", - "HP:0003220", - "UPHENO:0080351", - "UPHENO:0081424", - "UPHENO:0085068", - "UPHENO:0085118", - "HP:0001877", + "HP:0001053", + "HP:0001872", + "HP:0011873", + "CL:0000233", + "CL:0000225", + "HP:0011017", + "GO:0005623", + "GO:0048871", + "GO:0048869", + "HP:0012130", "HP:0025461", - "HP:0005522", - "UPHENO:0088162", "HP:0020047", - "UPHENO:0087510", - "HP:0012745", + "GO:0030099", + "GO:0034101", + "GO:0048468", + "HP:0010972", + "HP:0005522", + "HP:0002818", + "UPHENO:0080187", + "HP:0001263", "UPHENO:0046753", - "HP:0010978", + "UPHENO:0075198", "HP:0032101", "UPHENO:0053580", - "HP:0025633", - "UPHENO:0002806", - "UPHENO:0002411", - "HP:0012211", - "UPHENO:0086128", - "HP:0008373", + "UPHENO:0081755", + "UBERON:0036295", + "UBERON:0000056", + "HP:0000072", + "UPHENO:0076780", + "HP:0000135", + "UBERON:0003216", "UPHENO:0033635", "HP:0000175", - "HP:5201015", - "HP:0000202", - "HP:0000218", - "UPHENO:0034110", - "UPHENO:0001208", - "HP:0000268", + "UPHENO:0063513", "UPHENO:0075148", - "UPHENO:0087058", + "UBERON:0013766", + "UBERON:0012180", "HP:0000286", - "UPHENO:0087928", - "HP:0000069", - "UPHENO:0002442", - "UPHENO:0087307", - "UPHENO:0084729", + "UBERON:1000021", + "UPHENO:0020809", + "UPHENO:0075159", "UPHENO:0084734", + "HP:0001999", + "UPHENO:0076704", "UPHENO:0041151", - "UPHENO:0041083", - "HP:0009118", - "HP:0011821", - "HP:0034261", - "HP:0002692", - "HP:0030791", - "HP:0009122", + "UPHENO:0080087", "UPHENO:0081141", - "UPHENO:0066972", + "UPHENO:0081314", + "UBERON:0001708", + "UPHENO:0019661", + "UBERON:0001710", "UPHENO:0083646", - "UPHENO:0081788", - "UPHENO:0088116", - "HP:0000028", + "UPHENO:0081786", + "HP:0009116", + "HP:0000364", + "GO:0050954", + "UPHENO:0052970", "UPHENO:0052231", - "UPHENO:0050625", "UPHENO:0005518", - "HP:0000365", - "UPHENO:0052970", - "HP:0000549", "HP:0000486", + "UPHENO:0063527", "UPHENO:0050236", - "HP:0000504", + "UPHENO:0052164", + "GO:0007601", + "GO:0050953", "HP:0000520", - "HP:0100887", - "UPHENO:0075219", - "UPHENO:0002240", - "HP:0007670", - "UPHENO:0078736", - "HP:0040194", - "UPHENO:0080602", - "HP:0012547", + "HP:0000568", + "NBO:0000411", + "UPHENO:0080369", + "NBO:0000444", "HP:0000496", - "HP:0011389", + "UPHENO:0080601", + "NBO:0000417", + "HP:0000639", + "UPHENO:0079839", "HP:0001751", - "UPHENO:0079837", - "HP:0006501", - "UPHENO:0041033", + "UPHENO:0078736", + "HP:0010460", + "UPHENO:0003053", + "UBERON:0003134", + "UBERON:0000995", + "UBERON:0013515", "UPHENO:0005170", - "HP:0000130", - "UPHENO:0076748", + "UPHENO:0020949", "UPHENO:0041664", - "HP:0000813", "UPHENO:0041395", "HP:0000008", - "UPHENO:0076724", - "HP:0001199", - "HP:0009602", - "UPHENO:0087806", - "HP:0000708", - "UPHENO:0050613", - "UPHENO:0055092", - "HP:0100022", + "CL:0000457", + "HP:0000130", + "UPHENO:0076766", + "UBERON:0003975", + "HP:0031105", + "UBERON:0005897", + "UPHENO:0081423", + "UPHENO:0021800", + "UBERON:0001463", + "UBERON:0015024", + "HP:0005918", + "UBERON:0010688", + "HP:0001172", + "GO:0009605", "UPHENO:0079833", - "HP:0001347", - "UPHENO:0083263", - "UPHENO:0049586", "UPHENO:0049622", - "UPHENO:0005642", - "UPHENO:0077877", + "GO:0050882", + "GO:0060004", + "NBO:0000389", + "UPHENO:0050606", "UPHENO:0050034", - "HP:0002719", "UPHENO:0075684", + "HP:0001551", "HP:0004298", - "HP:0100790", + "UPHENO:0075843", "HP:0010866", - "UPHENO:0086122", - "UPHENO:0033616", - "HP:0003549", - "UPHENO:0076794", - "UPHENO:0053644", + "HP:0004299", + "UPHENO:0002712", + "UBERON:0001712", "HP:0001537", - "HP:0005120", - "UPHENO:0080187", - "HP:0002623", + "HP:0003549", + "UPHENO:0077874", + "UBERON:0017672", + "HP:0011994", + "HP:0001631", + "UPHENO:0015303", + "UPHENO:0019897", + "UBERON:0002085", + "UBERON:0002081", + "HP:0001641", "HP:0031654", - "UPHENO:0000996", - "UPHENO:0019888", + "HP:0003220", + "HP:0011563", "UPHENO:0084715", - "UPHENO:0033604", + "UPHENO:0041033", + "HP:0031826", + "UPHENO:0019476", + "HP:0011545", + "UPHENO:0019890", "HP:0001629", - "HP:0001707", - "HP:0001714", + "UPHENO:0076732", + "UPHENO:0081830", + "UPHENO:0000996", + "HP:0000028", "UPHENO:0084482", - "HP:0001637", - "UPHENO:0021800", + "HP:0031653", + "HP:0000268", + "UPHENO:0019405", + "HP:0010438", + "HP:0001636", + "UPHENO:0033604", + "UPHENO:0066927", + "UPHENO:0076781", + "UBERON:0005983", "HP:0001638", - "UPHENO:0077800", - "UPHENO:0042834", - "UPHENO:0087022", - "UPHENO:0020809", - "HP:0001639", - "UPHENO:0015290", + "UBERON:0018260", + "UBERON:0000383", + "UBERON:0002349", + "UBERON:0005985", + "UPHENO:0020587", "HP:0011603", - "UPHENO:0087018", - "HP:0001643", - "UPHENO:0087309", - "HP:0012130", - "UPHENO:0033603", - 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+ "HP:0002086", + "UPHENO:0078729", + "UPHENO:0001440", + "UBERON:0012360", + "UPHENO:0021561", + "UPHENO:0020853", + "UBERON:0002513", + "UBERON:0004572", + "UBERON:0000475", + "HP:0031704", + "UBERON:0004537", + "HP:0000271", "UPHENO:0063595", - "UPHENO:0086172", - "HP:0000795", - "UPHENO:0075933", - "HP:0010936", + "UBERON:0000161", + "UBERON:0004716", + "UBERON:0000464", + "CL:0000019", + "UBERON:0001801", + "UPHENO:0001208", + "UBERON:0000020", + "UBERON:0003457", + "UBERON:0004288", + "HP:0000032", + "UPHENO:0084729", + "UBERON:0000955", "HP:0000079", - "UPHENO:0069254", - "HP:0000047", - "HP:0033127", - "HP:0007400", - "HP:0032076", - "HP:0100491", - "HP:0000153", - "HP:0002023", - "HP:0006265", - "UPHENO:0077889", - "UPHENO:0079826", - "UPHENO:0002595", - "HP:0012041", - "HP:0007874", - "UPHENO:0005995", - "UPHENO:0080221", - "UPHENO:0065599", - "HP:0200005", - "UPHENO:0003098", - "UPHENO:0088166", - "UPHENO:0002813", - "UPHENO:0080079", - "HP:0007364", - "UPHENO:0075198", - "UPHENO:0081755", - "UPHENO:0084816", - "UPHENO:0078730", - "UPHENO:0041146", - "UPHENO:0076739", - "HP:0000359", + "GO:0002262", + "RO:0002577", + "UPHENO:0021791", + "UBERON:5106048", + "UPHENO:0075696", + "UPHENO:0021038", + "UBERON:0000468", + "UBERON:0007832", + "HP:0010469", + "UBERON:0001766", + "UPHENO:0021746", + "UPHENO:0084448", + "UBERON:0002365", + "UPHENO:0050622", + "HP:0030311", "HP:0012372", - "HP:0002060", - "HP:0000119", - "UPHENO:0076799", - "UPHENO:0041084", - "UPHENO:0080126", - "UPHENO:0075195", - "UPHENO:0086635", - "HP:0000812", - "HP:0000240", + "BFO:0000020", "HP:0002650", - "UPHENO:0076722", - "UPHENO:0086855", - "UPHENO:0086595", - "UPHENO:0076760", - "UPHENO:0075220", - "HP:0003272", - "HP:0000252", - "UPHENO:0035147", - "UPHENO:0088321", - "UPHENO:0076703", - "HP:0000582", - "UPHENO:0085330", - "UPHENO:0085371", - "UPHENO:0041212", - "HP:0001881", - "UPHENO:0015280", - "HP:0001560", - "UPHENO:0075902", - "UPHENO:0002948", - "UPHENO:0086854", - "UPHENO:0076675", - "UPHENO:0088319", - "UPHENO:0085984", - "HP:0002715", - "UPHENO:0050101", - "UPHENO:0088338", - "HP:0011893", - "HP:0010987", - "HP:0004362", - "UPHENO:0002764", - "UPHENO:0002597", - "UPHENO:0076941", - "UPHENO:0002832", - "UPHENO:0041098", - "HP:0032251", - "HP:0010460", - "UPHENO:0080185", - "UPHENO:0035025", - "UPHENO:0076744", - "HP:0040069", - "UPHENO:0020068", - "HP:0001871", - "HP:0001903", - "UPHENO:0003116", - "UPHENO:0004459", - "UPHENO:0054957", - "HP:0001882", - "HP:0001392", - "HP:0004377", - "UPHENO:0076803", - "UPHENO:0031193", - "HP:0002863", - "UPHENO:0001440", - "UPHENO:0088132", - "HP:0000517", - "UPHENO:0001072", - "UPHENO:0000543", - "UPHENO:0003044", - "UPHENO:0084767", - "HP:0000818", - "HP:0002818", - "HP:0000277", - "HP:0002921", - "HP:0002813", - "UPHENO:0003405", - "HP:0012210", - "UPHENO:0033626", - "UPHENO:0021823", - "UPHENO:0005982", - "HP:0002012", - "UPHENO:0074584", - "HP:0000864", + "UBERON:0004054", + "UBERON:0003697", + "HP:0030962", + "UBERON:0004905", + "UBERON:0000010", + "UBERON:0011676", + "GO:0050877", "UPHENO:0004523", - "HP:0009115", - "UPHENO:0075995", - "UPHENO:0049367", - "UPHENO:0082835", - "UPHENO:0078347", - "UPHENO:0055730", - "UPHENO:0076723", - "HP:0002827", - "HP:0001562", - "HP:0011446", - "HP:0001197", - "HP:0025028", - "UPHENO:0075852", - "UPHENO:0076783", - "HP:0011004", - "HP:0002242", - "HP:0010461", - "UPHENO:0086621", - "UPHENO:0087427", - "UPHENO:0002808", - "UPHENO:0041821", - "UPHENO:0076957", - "HP:0011297", - "UPHENO:0087369", - "HP:0100760", - "HP:0000010", - "UPHENO:0084654", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0081575", - "HP:0045010", - "UPHENO:0076806", - "UPHENO:0086614", - "UPHENO:0050008", - "HP:0006496", - "UPHENO:0003070", + "HP:0000035", + "UBERON:0010000", + "UPHENO:0041525", + "HP:0033353", + "HP:0032039", + "UBERON:0001460", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0001032", + "UBERON:0003498", + "HP:0001643", + "UBERON:0004086", + "UPHENO:0001003", + "UBERON:0000463", + "UBERON:5102389", + "UBERON:0010409", + "UBERON:0012358", + "UBERON:0001043", + "HP:0010978", + "UBERON:0004089", + "UBERON:0004111", + "UBERON:0004710", "HP:0001924", - "UPHENO:0086628", - "UPHENO:0020748", - "UPHENO:0086700", - "UPHENO:0066927", - "UPHENO:0078125", - "HP:0001217", - "UPHENO:0072195", - "HP:0002814", - "UPHENO:0088140", - "HP:0012373", - "HP:0100542", - "HP:0031816", - "UPHENO:0080601", - "UPHENO:0087501", - "UPHENO:0076800", - "HP:0008053", - "UPHENO:0002828", - "HP:0000951", - "HP:0009484", - "UPHENO:0081709", - "HP:0031704", - "UPHENO:0002839", - "HP:0010293", - "UPHENO:0081570", - "UPHENO:0088088", - "UPHENO:0002896", - "UPHENO:0075175", - "HP:0000174", - "UPHENO:0082682", - "HP:0001034", - "UPHENO:0054970", - "HP:0000002", - "UPHENO:0076740", - "HP:0000953", - "HP:0030311", - "BFO:0000001", - "UPHENO:0002635", - "UPHENO:0080662", - "HP:0011849", - "UPHENO:0080087", - "HP:0012733", - "HP:0011121", - "UPHENO:0074589", - "HP:0006824", - "HP:0005922", - "UPHENO:0050622", - "HP:0040068", - "UPHENO:0002708", - "HP:0001872", - "UPHENO:0084761", - "HP:0001010", - "HP:0031105", - "UPHENO:0087974", - "HP:0045060", - "HP:0005927", - "UPHENO:0072402", - "UPHENO:0019886", - "UPHENO:0084766", - "HP:0001155", - "HP:0025033", - "UPHENO:0078159", - "UPHENO:0076786", - "UPHENO:0078215", - "HP:0012638", - "HP:0001780", - "HP:0006101", - "UPHENO:0076735", - "UPHENO:0078081", - "HP:0001551", - "UPHENO:0086792", - "UPHENO:0078288", - "UPHENO:0080585", - "UPHENO:0078179", - "HP:0004348", + "UBERON:0003620", + "UBERON:0034921", + "UPHENO:0076692", + "UPHENO:0054957", + "UPHENO:0077885", + "UPHENO:0001005", + "HP:0004325", + "UPHENO:0042834", + "HP:0000481", + "UBERON:0016529", + "HP:0100691", + "UBERON:0010314", + "HP:0030791", + "CL:0000003", + "BFO:0000003", + "UBERON:0007811", + "UPHENO:0050620", + "UBERON:0004122", + "UPHENO:0002844", + "GO:0042592", + "UBERON:0001711", + "UBERON:0002387", + "HP:0012331", + "HP:0008050", + "UPHENO:0063599", + "UPHENO:0002536", + "HP:0000813", + "UPHENO:0080382", + "UBERON:0002417", + "HP:0002270", + "UPHENO:0076730", + "UBERON:0000047", + "UPHENO:0049985", + "UBERON:0015203", + "UPHENO:0041821", + "UPHENO:0002595", + "HP:0000153", + "UPHENO:0002433", + "UBERON:0004456", + "BFO:0000040", + "HP:0012639", + "HP:0012443", + "UBERON:0001530", + "HP:0000025", + "UBERON:0000467", + "UBERON:0000064", + "UBERON:0006800", + "CL:0002242", + "UBERON:0000160", + "UPHENO:0002719", + "UPHENO:0020998", + "UPHENO:0021447", + "UPHENO:0079828", + "UBERON:0035639", + "UBERON:5001463", + "UBERON:0000019", + "UPHENO:0015280", + "HP:0040069", + "UBERON:0005401", + "UBERON:0000179", + "HP:0030669", + "UBERON:0001449", + "HP:0001667", "HP:0004349", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0087203", - "UPHENO:0082834", - "HP:0004209", - "UPHENO:0084511", - "UPHENO:0086144", - "HP:0004097", - "HP:0009179", + "HP:0000508", + "HP:0000377", + "UPHENO:0068971", + "HP:0000234", + "UPHENO:0041146", + "HP:0000505", + "GO:0007276", + "UBERON:0000465", + "HP:0000582", + "UBERON:0013765", + "UPHENO:0049940", + "UBERON:0010230", ], "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation", - "Hypopigmented skin patches", - "decreased pigmentation in skin of body", - "Hypopigmentation of the skin", "decreased pigmentation in multicellular organism", - "abnormal blood cell morphology", - "abnormal platelet morphology", - "Thrombocytopenia", - "Abnormal platelet count", - "abnormal blood cell", + "decreased biological_process in skin of body", + "decreased pigmentation in skin of body", + "Thrombocytopenia (HPO)", + "anucleate cell", + "serotonin secreting cell", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "Abnormality of body height (HPO)", + "decreased size of the multicellular organism", "decreased height of the anatomical entity", - "Abnormality of body height", - "abnormal erythrocyte morphology", - "Abnormal myeloid cell morphology", - "abnormal hematopoietic cell morphology", - "Abnormal cell morphology", - "Sideroblastic anemia", - "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", - "decreased length of palpebral fissure", - "Recurrent urinary tract infections", - "Unusual infection", - "Abnormality of immune system physiology", - "abnormal ureter", - "Abnormal ureter morphology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", + "abnormality of multicellular organism height", + "Hypopigmentation of the skin (HPO)", + "Anemia (HPO)", + "oxygen accumulating cell", + "Abnormal cell morphology (HPO)", + "myeloid cell", + "blood cell", + "homeostatic process", + "cellular process", + "Abnormal erythroid lineage cell morphology (HPO)", + "erythrocyte differentiation", + "myeloid cell differentiation", + "cell differentiation", + "myeloid cell homeostasis", + "cellular developmental process", + "Abnormality of the radius (HPO)", + "Abnormal cellular physiology (HPO)", + "abnormal radius bone", + "radius bone", + "Global developmental delay (HPO)", + "Short palpebral fissure (HPO)", + "abnormal size of palpebral fissure", + "Abnormality of immune system physiology (HPO)", + "abnormality of immune system physiology", + "abnormally localised anatomical entity", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "renal pelvis/ureter", + "Abnormal ureter morphology (HPO)", + "abnormal ureter morphology", + "ureter", "abnormality of renal system physiology", - "Puberty and gonadal disorders", - "abnormally decreased functionality of the gonad", + "hard palate", + "abnormal incomplete closing of the secondary palate", + "Abnormal hard palate morphology (HPO)", "Orofacial cleft", - "High palate", - "increased height of anatomical entity in independent continuant", - "abnormality of anatomical entity height", - "Dolichocephaly", - "increased size of the head", - "abnormal size of head", - "abnormal skin of face morphology", + "increased height of the secondary palate", "abnormal skin of head morphology", + "increased length of the epicanthal fold", + "skin of head", + "epicanthal fold", + "abnormal skin of face morphology", + "upper eyelid", + "head or neck skin", + "Facial asymmetry (HPO)", + "abnormal face morphology", + "abnormal shape of forehead", + "sloped forehead", "abnormal forehead morphology", - "abnormally localised anatomical entity", - "Micrognathia", - "aplasia or hypoplasia of mandible", - "decreased size of the mandible", + "jaw skeleton", "aplasia or hypoplasia of skull", - "facial bone hypoplasia", - "Aplasia/Hypoplasia involving bones of the skull", "mandible hypoplasia", "anatomical entity hypoplasia in face", - "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "Facial asymmetry", - "abnormal sensory perception of sound", + "bone of lower jaw", + "Micrognathia (HPO)", + "Hypoplastic facial bones (HPO)", + "dentary", + "facial bone hypoplasia", + "decreased biological_process in independent continuant", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "Abnormal mandible morphology (HPO)", + "aplasia or hypoplasia of mandible", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal asymmetry of anatomical entity", "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", + "Hearing impairment (HPO)", + "Abnormality of vision (HPO)", + "visual perception", + "sensory perception", + "decreased qualitatively visual perception", + "Proptosis (HPO)", + "Microphthalmia (HPO)", "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "Cryptorchidism", - "Nystagmus", - "abnormality of ear physiology", - "Abnormal vestibular function", - "abnormal vestibulo-ocular reflex", + "Abnormality of globe size (HPO)", "abnormal internal ear", - "abnormal female reproductive system", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "Abnormal involuntary eye movements (HPO)", + "Abnormal vestibulo-ocular reflex (HPO)", + "Vestibular dysfunction (HPO)", + "Strabismus (HPO)", + "Functional abnormality of the inner ear (HPO)", + "internal ear", + "Abnormality of eye movement (HPO)", + "Abnormality of the inner ear (HPO)", + "abnormality of ear physiology", + "abnormality of internal ear physiology", + "abnormal eye movement", + "female reproductive system", + "female organism", "shape uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "Abnormality of the uterus", + "internal female genitalia", + "sensory perception of sound", + "female reproductive organ", + "uterus", + "skin of eyelid", + "bicornuate anatomical entity", + "Abnormal morphology of female internal genitalia (HPO)", + "bicornuate uterus", + "decreased qualitatively sensory perception of sound", + "subdivision of oviduct", "abnormal uterus", - "abnormal phalanx of manus morphology", - "Abnormal finger phalanx morphology", - "Abnormality of thumb phalanx", - "Triphalangeal thumb", - "increased reflex", - "Hyperreflexia", + "Abnormal uterus morphology (HPO)", + "manual digit 1 plus metapodial segment", + "skeleton of manual acropodium", + "abnormally decreased functionality of the gonad", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "Abnormal finger phalanx morphology (HPO)", + "manual digit 1 phalanx endochondral element", + "phalanx of manus", + "Abnormal thumb morphology (HPO)", + "body part movement", + "voluntary movement behavior", + "decreased qualitatively pigmentation in independent continuant", "abnormal behavior", + "Abnormality of movement (HPO)", + "Behavioral abnormality (HPO)", + "Hyperreflexia (HPO)", + "neuromuscular process", + "Visual impairment (HPO)", + "voluntary musculoskeletal movement", + "behavior process", + "reflex", + "abnormal response to external stimulus", "abnormal musculoskeletal movement", - "increased qualitatively response to stimulus", + "multicellular organismal movement", + "abnormal voluntary movement behavior", "decreased embryo development", - "abnormal embryo development", - "Intrauterine growth retardation", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal umbilicus morphology", - "Abnormality of connective tissue", - "shape forehead", - "herniated abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Intrauterine growth retardation (HPO)", + "connective tissue", + "abdominal viscera", + "biogenic amine secreting cell", + "changed embryo development rate", + "abdominal wall", + "abnormal incomplete closing of the abdominal wall", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal cardiac atrium morphology (HPO)", + "Abnormality of the ureter (HPO)", + "interatrial septum", + "Atrial septal defect (HPO)", + "Abnormal atrial septum morphology (HPO)", + "abnormal cardiac atrium morphology", "abnormal interatrial septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "Abnormal cardiac septum morphology", + "Abnormal heart valve physiology (HPO)", + "interventricular septum", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", + "hypertrophic heart right ventricle", + "Abnormal cardiac ventricle morphology (HPO)", + "Abnormality of the uterus (HPO)", + "Abnormal pulmonary valve physiology (HPO)", + "abnormal incomplete closing of the interventricular septum", + "Overriding aorta (HPO)", + "abnormal size of heart right ventricle", "abnormally increased volume of anatomical entity", - "Tetralogy of Fallot", - "abnormal heart right ventricle morphology", - "Ventricular hypertrophy", - "Right ventricular hypertrophy", + "Tetralogy of Fallot (HPO)", + "abnormal pulmonary valve morphology", + "abnormal cardiac ventricle morphology in the heart", + "cardiac septum", + "Pulmonic stenosis (HPO)", + "right cardiac chamber", + "decreased qualitatively biological_process in independent continuant", + "abnormal behavior process", + "constricted pulmonary valve", + "abnormal cardiac ventricle morphology in the independent continuant", "abnormal cardiac septum morphology", - "Overriding aorta", - "abnormal interventricular septum morphology", - "abnormally decreased functionality of the anatomical entity", + "anatomical entity dysfunction in independent continuant", + "myocardium", + "Abnormal myocardium morphology (HPO)", "abnormally decreased functionality of the myocardium", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", - "abnormal aortic valve morphology", - "abnormal anatomical entity morphology in the heart", - "abnormal outflow part of left ventricle morphology", - "abnormal eye movement", + "abnormally decreased functionality of the anatomical entity", + "Hypertrophic cardiomyopathy (HPO)", + "abnormal coronary vessel morphology", + "conceptus", + "abnormal systemic artery morphology", + "vasculature of organ", + "vasculature of trunk", + "heart blood vessel", + "abnormal artery morphology", + "thoracic segment blood vessel", "abnormal artery morphology in the independent continuant", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "Abnormal aortic morphology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "flat longitudinal arch of pes", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", - "Abnormal calvaria morphology", - "abnormal neurocranium morphology", - "Abnormal cerebral cortex morphology", - "abnormally protruding anatomical entity", - "Abnormal shape of the frontal region", - "flat anatomical entity", - "abnormal cerebral cortex morphology", + "Congenital malformation of the great arteries (HPO)", + "embryonic cardiovascular system", + "abnormal ductus arteriosus morphology", + "Unusual infection (HPO)", + "outflow tract", + "abnormal embryo development", + "abnormal abdominal wall", + "abnormal cardial valve morphology in the independent continuant", + "lower jaw region", + "abnormal uterus morphology", + "valve", + "aplasia or hypoplasia of radius bone", + "Abnormal aortic valve morphology (HPO)", + "semi-lunar valve", + "cardiac ventricle", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "outflow tract of ventricle", + "heart plus pericardium", + "outflow part of left ventricle", + "aortic system", + "abnormal aorta morphology", + "Abnormal aortic morphology (HPO)", + "thoracic cavity blood vessel", + "great vessel of heart", + "flattened anatomical entity", + "flat anatomical entity in independent continuant", + "Toe syndactyly (HPO)", + "abnormal facial skeleton morphology", + "Aplasia/Hypoplasia of the radius (HPO)", + "Frontal bossing (HPO)", + "central nervous system gray matter layer", + "dermal bone", + "pallium", + "facial skeleton", + "central nervous system cell part cluster", "abnormal shape of frontal cortex", + "frontal cortex", + "cortex of cerebral lobe", + "neurocranium", + "secretory cell", + "bone of craniocervical region", + "heart layer", + "intramembranous bone", + "Ventricular hypertrophy (HPO)", + "membrane bone", + "abnormal forehead", "abnormal frontal cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", + "cerebral hemisphere gray matter", + "forehead", + "abnormal tetrapod frontal bone morphology", + "Abnormal facial skeleton morphology (HPO)", + "abnormal cerebral cortex morphology", + "primary subdivision of cranial skeletal system", + "abnormal spatial pattern of anatomical entity", + "vault of skull", + "dermal skeleton", + "dermatocranium", + "cerebral hemisphere", + "Abnormality of calvarial morphology (HPO)", "abnormal vault of skull", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal size of heart right ventricle", - "Meckel diverticulum", + "abnormal ileum morphology", + "Abnormal ileum morphology (HPO)", + "ganglion of peripheral nervous system", + "decreased pigmentation in independent continuant", + "neocortex", + "parasympathetic ganglion", + "Bicornuate uterus (HPO)", + "autonomic nervous system", + "abnormal ganglion of peripheral nervous system", + "Abnormal platelet morphology (HPO)", + "Abnormality of enteric ganglion morphology (HPO)", "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal ganglion morphology", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Hernia", - "Vertebral arch anomaly", - "decreased biological_process in skin of body", + "platelet", + "enteric ganglion", + "Abnormal autonomic nervous system morphology (HPO)", + "Aganglionic megacolon (HPO)", + "decreased length of palpebral fissure", + "abnormal parasympathetic ganglion morphology", "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "abnormal vertebral column morphology", - "Spinal dysraphism", - "Abnormal vertebral morphology", - "Abnormal spinal cord morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "abnormal bony vertebral centrum morphology", - "abnormal opening of the anatomical entity", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "abnormal neural tube morphology", - "Neural tube defect", - "abnormal shape of forehead", + "abnormal ganglion", + "involuntary movement behavior", + "abnormal enteric nervous system morphology", + "dorsal region element", + "neural tube", + "presumptive structure", + "reflexive behavior", "abnormal tube formation", + "Abnormality of the spinal cord (HPO)", + "manual digit 1", + "neural tube closure", + "chordate embryonic development", + "spinal cord", + "Spinal dysraphism (HPO)", + "abnormal heart morphology", + "tube development", + "embryonic morphogenesis", + "tube morphogenesis", + "bony vertebral centrum", + "irregular bone", + "Increased head circumference (HPO)", + "future central nervous system", + "vertebral centrum element", + "arch of centrum of vertebra", + "vertebral element", + "abnormal neural tube morphology", + "Vertebral arch anomaly (HPO)", + "cerebral cortex", + "gray matter of forebrain", "abnormal incomplete closing of the arch of centrum of vertebra", - "abnormal size of palpebral fissure", + "neural tube formation", + "primary neural tube formation", + "abnormal development of anatomical entity", + "Neural tube defect (HPO)", + "embryonic structure", + "developing anatomical structure", + "decreased size of the mandible", + "Patent ductus arteriosus (HPO)", + "Abnormality of enteric nervous system morphology (HPO)", + "Abnormal form of the vertebral bodies (HPO)", + "abnormal vertebral column morphology", + "epithelium development", + "morphogenesis of an epithelium", + "epithelial tube morphogenesis", + "embryo development ending in birth or egg hatching", + "shape longitudinal arch of pes", + "embryo development", + "dorsum", + "Abnormal vertebral morphology (HPO)", + "abnormal vertebra morphology", + "anatomical structure development", + "anatomical structure morphogenesis", + "Spina bifida (HPO)", + "bone of hip region", + "Abnormal morphology of the great vessels (HPO)", + "hindlimb stylopod", "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormality of femur morphology", + "upper leg bone", + "abnormal voluntary musculoskeletal movement", + "Abnormality of femur morphology (HPO)", + "femur endochondral element", + "leg bone", "abnormal femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal synovial joint morphology", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "anatomical entity dislocation", - "Joint dislocation", - "Abnormal joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Lower extremity joint dislocation", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Aplasia/hypoplasia involving forearm bones", - "Sloping forehead", + "sensory perception of mechanical stimulus", + "hip", + "neurocranium bone", + "pelvic girdle bone/zone", + "vestibulo-ocular reflex", + "Abnormal hip joint morphology (HPO)", + "Abnormal joint morphology (HPO)", + "articulation", + "abnormal phalanx morphology", + "tetrapod frontal bone", + "limb joint", + "pelvic region element", + "excretory tube", + "hip joint", + "abnormal synovial joint", + "girdle bone/zone", + "abnormal hindlimb joint", + "Abdominal wall defect (HPO)", + "Right ventricular hypertrophy (HPO)", + "zone of bone organ", + "skeletal joint", + "girdle skeleton", + "Abnormality of pelvic girdle bone morphology (HPO)", + "Lower extremity joint dislocation (HPO)", + "Abnormal hip bone morphology (HPO)", + "appendage girdle region", + "neural tube development", + "articular system", "decreased size of the ulna", - "Forearm undergrowth", - "forelimb zeugopod bone hypoplasia", - "decreased size of the anatomical entity in the pectoral complex", + "anatomical entity hypoplasia", + "ulna hypoplasia", "decreased length of anatomical entity in independent continuant", - "Hypoplasia of the ulna", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Aplasia/Hypoplasia affecting the uvea", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", - "abnormal iris morphology", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal penis", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal limb morphology", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal voluntary movement behavior", - "Abnormal forearm bone morphology", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", - "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormal skeletal morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "Ventriculomegaly", - "sloped anatomical entity", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "Abnormality of cardiovascular system morphology", + "decreased length of forelimb zeugopod bone", + "aplasia or hypoplasia of ulna", + "Aplasia/Hypoplasia of the ulna (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "Forearm undergrowth (HPO)", + "decreased size of the anatomical entity", + "abnormal myocardium morphology", + "Short long bone (HPO)", + "decreased length of long bone", + "bone element hypoplasia in independent continuant", + "Short forearm (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "musculoskeletal movement", + "digit 1 or 5", + "aorta", + "manual digit 5", + "manual digit 1 or 5", + "Abnormality of metabolism/homeostasis (HPO)", + "tube closure", + "digit 5 plus metapodial segment", + "Abnormal 5th finger morphology (HPO)", + "abnormal manual digit 5 morphology", + "Decreased bone element mass density", + "cardiac atrium", + "Reduced bone mineral density (HPO)", + "Abnormality of the abdominal wall (HPO)", + "ossification", + "Abnormality of bone mineral density (HPO)", + "Decreased anatomical entity mass density", + "Finger syndactyly (HPO)", + "abnormal anatomical entity morphology in the manus", + "abnormally fused digit and anatomical entity", + "abnormally fused manual digit and manual digit", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Aplasia/hypoplasia of the extremities (HPO)", + "Abnormality of the hand (HPO)", + "abnormal manus", + "tissue morphogenesis", + "abnormal manus morphology", + "manus", + "segment of manus", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Abnormality of finger (HPO)", + "peripheral nervous system", + "paralysed cranial nerve", + "abnormal biological_process", + "Cranial nerve paralysis (HPO)", + "Abnormal myeloid cell morphology (HPO)", + "abnormal vasculature", + "nerve of head region", + "Abnormal bone structure (HPO)", + "abnormality of internal male genitalia physiology", + "abnormal brain ventricle/choroid plexus morphology", + "multi cell part structure", "abnormal respiratory system", - "abnormal bone of pectoral complex morphology", - "abnormal embryo morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal vascular system morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", - "Neurodevelopmental abnormality", - "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", - "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal ileum morphology", + "oral cavity", + "Abnormality of the peripheral nervous system (HPO)", + "paralysed anatomical entity", + "lobe of cerebral hemisphere", + "Abnormal cranial nerve physiology (HPO)", + "cranial neuron projection bundle", + "abnormal aortic valve morphology", + "abnormality of cranial nerve physiology", "increased qualitatively biological_process in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", - "abnormal central nervous system morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", - "abnormal manus", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormal cerebrospinal fluid morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", + "Multiple cafe-au-lait spots (HPO)", + "increased pigmentation in independent continuant", + "pigmentation", + "manual digitopodium bone", + "increased biological_process in independent continuant", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "Abnormality of the skin (HPO)", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "increased pigmentation in skin of body", + "epithelial tube formation", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Localized skin lesion (HPO)", + "pelvic girdle skeleton", + "Abnormal peripheral nervous system morphology (HPO)", + "decreased length of anatomical entity", + "Abnormal uvea morphology (HPO)", + "abnormal kidney morphology", + "anterior uvea", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "abnormal internal female genitalia morphology", + "Aplasia/Hypoplasia affecting the anterior segment of the eye (HPO)", + "abnormal anterior segment of eyeball morphology", + "thoracic segment of trunk", + "abnormally formed anatomical entity in independent continuant", + "Abnormality of the autonomic nervous system (HPO)", + "abnormally formed anatomical entity", + "abnormal soft palate", + "abnormally fused anatomical entity and anatomical entity", + "Abnormal cellular immune system morphology (HPO)", + "aplasia or hypoplasia of palatine uvula", + "soft palate", + "roof of mouth", + "abnormal response to stimulus", + "morphological feature", "abnormal location of anatomical entity", - "abnormal anatomical entity", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "shape cornea", - "abnormal artery morphology", - "Abnormal forearm morphology", + "abnormal oral cavity morphology", + "Abnormal hand morphology (HPO)", + "trachea", + "mouth", + "Abnormal heart valve morphology (HPO)", + "midface", + "Aplasia/Hypoplasia of the uvula (HPO)", + "systemic arterial system", + "anatomical projection", + "abnormal size of multicellular organism", + "abnormal mouth morphology", + "Abnormal conjugate eye movement (HPO)", + "abnormal midface", + "haemolymphatic fluid", + "Decreased fertility in males (HPO)", + "integument", + "abnormally fused pedal digit and pedal digit", + "Decreased fertility (HPO)", + "hindlimb joint", + "abnormal late embryo", + "cavitated compound organ", + "abnormal upper urinary tract", + "abnormal multicellular organismal reproductive process", + "root", + "malformed anatomical entity", + "septum", + "autopodial skeleton", + "pelvic girdle region", + "individual digit of digitopodial skeleton", + "Abnormal renal physiology (HPO)", "abnormal bone of pelvic complex morphology", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "Microphthalmia", - "abnormal external ear morphology", - "abnormal vein morphology", - "Decreased body weight", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "Abnormal small intestine morphology", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", - "abnormal cornea, asymmetrically curved", - "curvature anatomical entity", - "abnormal pes morphology", - "increased height of the anatomical entity", - "Limb undergrowth", - "abnormal upper urinary tract", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", - "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", - "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "Morphological abnormality of the gastrointestinal tract", - "abnormal reproductive system morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", - "abnormality of male reproductive system physiology", - "abnormal gamete generation", - "abnormality of camera-type eye physiology", - "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "Abnormal cardiac atrium morphology", - "Intellectual disability", - "Abnormal penis morphology", - "Abnormal tracheobronchial morphology", - "hypertrophic multicellular anatomical structure", + "abnormal pedal digit", + "longitudinal arch of pes", + "pedal digitopodium region", + "leukocyte", + "clavate anatomical entity", + "Abnormality of ganglion (HPO)", + "abnormal skin of body", + "concave 3-D shape anatomical entity", + "decreased size of the anatomical entity in the pectoral complex", + "leg", + "facial bone", + "abnormal digit", + "sensory system", + "pedal digit bone", + "ventricular system of central nervous system", + "acropodium region", + "anatomical system", + "pedal digitopodium bone", "abnormal kidney", - "abnormal reproductive system", - "abnormal internal genitalia", - "abnormal male reproductive organ morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "decreased developmental process", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Recurrent infections", - "asymmetrically curved cornea", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "decreased length of long bone", - "curved anatomical entity", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", + "acropodial skeleton", + "trunk blood vessel", + "bone of pelvic complex", + "Hypoplasia of the ulna (HPO)", + "blood", + "Clubbing of toes (HPO)", + "Abnormality of peripheral nerves (HPO)", + "primary subdivision of skull", + "pedal digit phalanx endochondral element", + "ganglion", + "abnormal pigmentation in independent continuant", + "abnormal anterior chamber of eyeball morphology", "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "Slanting of the palpebral fissure", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal phenotype by ontology source", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormal developmental process", - "abnormal secondary palate morphology", - "Abnormal cornea morphology", - "Abnormal form of the vertebral bodies", - "entity", - "absent sperm in the independent continuant", - "abnormal anatomical entity, curved", - "abnormal spatial pattern of anatomical entity", - "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", - "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased biological_process in multicellular organism", - "quality", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", - "Hypertrophic cardiomyopathy", - "absent anatomical entity in the multicellular organism", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "abnormal gamete", - "Abnormality of the outer ear", - "Absent testis", - "abnormal face morphology", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", - "abnormal shape of continuant", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal head", - "abnormal cell", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormal spermatogenesis", - "Clubbing of toes", - "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", - "decreased spermatogenesis", - "abnormal kidney morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal visual perception", - "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "abnormal digestive system", - "abnormal craniocervical region morphology", - "abnormal cornea morphology", - "continuant", - "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "absent gamete", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", - "abnormality of nervous system physiology", - "Abnormal external genitalia", - "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", - "curved anatomical entity in independent continuant", - "bicornuate anatomical entity", - "anatomical entity hypoplasia in independent continuant", + "autopod endochondral element", + "autopod bone", + "hindlimb skeleton", "shape anatomical entity", - "abnormal vasculature", - "changed developmental process rate", - "abnormal genitourinary system", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "abnormal myocardium morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal male reproductive system physiology", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "Abnormal eye physiology", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", - "abnormal tracheobronchial tree morphology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", + "Clubbing (HPO)", + "prominent anatomical entity", + "Abnormal lower limb bone morphology (HPO)", + "Abnormality of the midface (HPO)", + "hindlimb long bone", + "abnormal integument", + "Abnormality of the genital system (HPO)", + "Abnormal digit morphology (HPO)", + "Abnormality of the lower limb (HPO)", + "abnormally formed anterior chamber of eyeball", + "Abnormal size of the palpebral fissures (HPO)", + "digit plus metapodial segment", + "tube formation", + "Abnormality of toe (HPO)", + "abnormal intestine morphology", + "Abnormality of the urinary system physiology (HPO)", + "Small intestinal stenosis (HPO)", + "Aplasia/Hypoplasia of facial bones (HPO)", + "Abnormality of limbs (HPO)", + "Duodenal stenosis (HPO)", + "Hydrocephalus (HPO)", + "internal genitalia", + "pes bone", + "abnormal multicellular organism morphology", + "duodenum", + "small intestine", + "Absent testis (HPO)", + "constricted duodenum", + "delayed growth", + "abnormal spinal cord", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", + "increased anatomical entity length in independent continuant", + "abnormal location of eyeball of camera-type eye", + "immaterial entity", + "Renal hypoplasia/aplasia (HPO)", + "nerve", + "abnormal duodenum morphology", + "non-material anatomical boundary", + "abnormal visual perception", "increased length of the anatomical line between pupils", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal anus", - "Atypical behavior", - "increased size of the brain ventricle", - "Anal atresia", - "abnormal small intestine", - "Abnormality of the anus", - "Weight loss", - "Abnormality of the forehead", + "chamber of eyeball", + "male germ cell", + "anatomical line", + "future nervous system", + "aplasia or hypoplasia of uvea", + "hypothalamus-pituitary axis", + "Abnormality of the female genitalia (HPO)", + "abnormal hypothalamus-pituitary axis", + "synovial joint of pelvic girdle", + "pes", + "abnormal sensory perception of sound", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "nervous system process", + "exocrine system", + "circulatory organ", + "abnormality of male reproductive system physiology", + "glandular system", + "kinesthetic behavior", + "flattened anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "Finger clinodactyly (HPO)", + "blood vessel", + "hepatobiliary system", + "anatomical space", + "intestine", + "Abnormality of the endocrine system (HPO)", + "manual digit bone", + "limb long bone", "abnormal prepuce of penis morphology", + "abnormal endocrine system", + "sloped anatomical entity", + "Abnormal anterior chamber morphology (HPO)", + "liver", + "amniotic fluid", + "increased size of the anatomical entity", + "Irregular hyperpigmentation (HPO)", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "abnormal size of brain ventricle", + "synovial joint", + "Myelodysplasia (HPO)", + "ileum", + "Aplasia/Hypoplasia of the testes (HPO)", + "abnormal peripheral nervous system", + "Abnormal eyelid morphology (HPO)", + "Neoplasm (HPO)", + "Hematological neoplasm (HPO)", + "hemolymphoid system", + "regional part of brain", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal cardial valve morphology", + "nucleate cell", + "skeleton of pes", + "stylopod", + "organ part", + "immune system", + "abnormal umbilicus morphology", + "Abnormal leukocyte morphology (HPO)", + "Abnormality of the eye (HPO)", + "hematopoietic cell", + "increased pigmentation", + "abnormal hematopoietic system", + "Abnormality of the forehead (HPO)", + "trunk bone", + "Leukopenia (HPO)", + "Decreased body weight (HPO)", + "abnormal immune system", + "erythroid lineage cell", + "Hernia (HPO)", + "pulmonary valve", + "flat bone", + "hematopoietic system", + "Abnormal neural tube morphology (HPO)", + "Abnormal duodenum morphology (HPO)", + "Macule (HPO)", + "abnormal forebrain morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormal soft palate morphology (HPO)", + "erythrocyte", + "telencephalon", + "Abnormality of prenatal development or birth (HPO)", + "embryonic tissue", + "Opisthokonta", "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "Abnormal pulmonary valve physiology", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "abnormal growth", - "abnormal cornea, curved", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormal lens morphology", - "opaque anatomical entity", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "drooping eyelid", + "segment of autopod", + "Eumetazoa", + "abnormal size of skull", + "Clinodactyly (HPO)", + "abnormal pes morphology", + "organism", + "trunk", + "Abnormality of the ulna (HPO)", + "pedal digit", + "abnormal size of anatomical entity", + "Microcephaly (HPO)", + "frontal lobe", + "ventricle of nervous system", + "pedal digit plus metapodial segment", + "abnormal biological_process in independent continuant", + "metabolic process", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "abnormal pigmentation", + "lower respiratory tract", + "Abnormality of forebrain morphology (HPO)", + "shape cornea", + "transudate", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "manual digit 1 digitopodial skeleton", + "abnormal vertebral column", + "vertebral column", + "Scoliosis (HPO)", + "Abnormality of the curvature of the vertebral column (HPO)", + "Abnormal ventriculoarterial connection (HPO)", + "Abnormal shape of the palpebral fissure (HPO)", + "tissue development", + "shape palpebral fissure", + "layer of muscle tissue", + "head bone", + "urethral meatus", + "Nystagmus (HPO)", + "Deviation of the hand or of fingers of the hand (HPO)", + "Abnormality of the urinary system (HPO)", + "renal system", + "lower urinary tract", + "abnormal respiratory system morphology", + "glans penis", + "eyelid", + "autopodial extension", + "male urethra", + "camera-type eye", + "urethral opening", + "Displacement of the urethral meatus (HPO)", + "Renal insufficiency (HPO)", + "abnormal testis morphology", + "male urethral meatus", + "abnormal sensory perception", + "abnormal cardial valve morphology in the heart", + "abnormal urethra", + "Abnormal immune system morphology (HPO)", + "Abnormality of the lower urinary tract (HPO)", + "abnormal renal system", + "phalanx of pes", + "eye movement", + "Abnormality of the nose (HPO)", + "abnormal asymmetry of face", + "Abnormal palate morphology (HPO)", + "internal naris atresia", + "non-connected functional system", + "internal naris", + "abnormal physiologic nystagmus", + "skeleton of pelvic complex", + "respiratory airway", + "kidney", + "chemosensory system", + "abnormal lower urinary tract", "posterior nasal aperture atresia", - "Choanal atresia", - "Abnormal axial skeleton morphology", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Short long bone", - "abnormal palpebral fissure", - "anus atresia", + "Abnormal foot morphology (HPO)", + "regional part of nervous system", + "orifice of skull", + "olfactory organ", + "naris", "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", + "abnormal ureter", + "abnormal palpebral fissure", + "gland", + "abnormal cardiac atrium morphology in the heart", + "abnormal postcranial axial skeleton morphology", + "axial skeleton plus cranial skeleton", + "axial skeletal system", "abnormal posterior nasal aperture morphology", - "Abnormality of the orbital region", + "Abnormal bone ossification (HPO)", + "Abnormality of the urethra (HPO)", + "nose", + "increased qualitatively response to stimulus", + "endocrine system", + "skull", + "Abnormality of the choanae (HPO)", + "Abnormal platelet count (HPO)", + "drooping eyelid", + "drooping anatomical entity", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Meckel diverticulum (HPO)", + "pelvic region of trunk", + "Abnormality of the mouth (HPO)", + "Ptosis (HPO)", + "abnormal secondary palate morphology", + "abnormal lens of camera-type eye", + "hindlimb", + "Decreased multicellular organism mass", + "decreased anatomical entity mass", + "growth", + "abnormal digestive system", + "Abnormal male urethral meatus morphology (HPO)", + "Abnormality of digestive system morphology (HPO)", + "Weight loss (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "abnormally fused anatomical entity and digit", + "posterior nasal aperture", + "abnormal external genitalia", + "Growth abnormality (HPO)", + "eukaryotic cell", + "abnormality of multicellular organism mass", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "Astigmatism (HPO)", + "abdomen", + "anus atresia", + "abnormality of kidney physiology", + "enteric nervous system", + "anatomical entity atresia", + "abnormal anus", + "Abnormality of the anus (HPO)", + "Anorectal anomaly (HPO)", + "abnormal interventricular septum morphology", + "abnormal anatomical entity morphology in the heart", + "prepuce", + "Anal atresia (HPO)", + "abnormal anus morphology", + "Abnormality iris morphology (HPO)", + "Abnormal systemic arterial morphology (HPO)", + "abnormal shape of continuant", + "abnormal systemic arterial system morphology", + "abnormal common carotid artery plus branches morphology", + "decreased size of the eyeball of camera-type eye", + "Abnormal skull morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "common carotid artery plus branches", + "abnormal bony vertebral centrum morphology", + "skeletal element", + "increased reflex", + "forelimb", + "zeugopod", + "limb endochondral element", "abnormal nerve", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "Abnormality of the choanae", + "musculoskeletal system", + "abnormal limb", + "abnormal arm", + "cranial bone", + "Abnormality of the amniotic fluid (HPO)", + "Umbilical hernia (HPO)", + "abnormal cardiac ventricle morphology", + "glans", + "paired limb/fin skeleton", + "abnormal long bone morphology", + "Hypertelorism (HPO)", + "Abnormal forearm bone morphology (HPO)", + "heart vasculature", + "arm", + "abnormally fused manual digit and anatomical entity", + "endochondral bone", + "skeleton of lower jaw", + "bone of appendage girdle complex", + "digit 1", + "upper jaw region", + "Abnormal oral morphology (HPO)", + "forelimb zeugopod skeleton", + "Recurrent infections (HPO)", + "organism subdivision", + "vestibulo-auditory system", + "integumental system", + "abnormal forelimb zeugopod bone morphology", + "response to stimulus", + "brain gray matter", + "forelimb endochondral element", + "secondary palate", + "abnormal manual digit 1 morphology", + "male reproductive system", + "visual system", + "thoracic segment organ", + "limb bone", + "Abnormality of the immune system (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Cognitive impairment (HPO)", + "postcranial axial skeleton", + "hypertrophic cardiac ventricle", "abnormal internal naris", - "decreased pigmentation in independent continuant", - "Hypospadias", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "abnormal renal system", - "abnormal urethra", - "Displacement of the urethral meatus", - "Morphological central nervous system abnormality", - "abnormal anus morphology", - "Abnormality of the urinary system", - "Abnormality of the lower urinary tract", - "Abnormal shape of the palpebral fissure", - "abnormal shape of palpebral fissure", - "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormality of the vertebral column", - "Macule", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", - "Scoliosis", - "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "Abnormal forebrain morphology", - "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Leukopenia", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "Abnormal uterus morphology", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "abnormally decreased number of cell in the independent continuant", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal immune system", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormally decreased number of hematopoietic cell", - "abnormal hematopoietic system", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Myelodysplasia", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Frontal bossing", - "abnormal size of brain ventricle", + "abnormal incomplete closing of the interatrial septum", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "multi-limb segment region", + "High palate (HPO)", + "bodily fluid", + "abnormal anatomical entity morphology in the pectoral complex", + "Morphological central nervous system abnormality (HPO)", + "upper limb segment", + "immune system process", + "tunica fibrosa of eyeball", + "abnormal developmental process", + "bone of pectoral complex", + "abnormal ulna morphology", + "Oligohydramnios (HPO)", + "Abnormal skeletal morphology (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "Abnormal reflex (HPO)", + "Deviation of finger (HPO)", + "appendicular skeleton", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "motile cell", + "Abnormality of limb bone (HPO)", + "pedal digit digitopodial skeleton", + "abnormal anatomical entity", + "paired limb/fin", + "Abnormality of limb bone morphology (HPO)", + "abnormal great vessel of heart morphology", + "abnormal appendicular skeleton morphology", + "increased biological_process", + "arm bone", + "abnormal limb long bone morphology", + "embryonic epithelial tube formation", + "abnormality of camera-type eye physiology", + "cranial nerve", + "abnormal incomplete closing of the anatomical entity", + "pectoral appendage", + "nervous system cell part layer", + "skeleton", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of reproductive system physiology (HPO)", + "abnormal opening of the anatomical entity", + "abnormal limb bone morphology", + "vasculature", + "Abnormal nervous system morphology (HPO)", + "abnormal skeletal system", + "homeostasis of number of cells", + "embryo", + "appendage", + "obsolete cell", + "male reproductive organ", + "Abnormal nervous system physiology (HPO)", + "Abnormality of cardiovascular system morphology (HPO)", + "Cleft palate (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "multi organ part structure", + "Abnormal venous morphology (HPO)", + "Abnormality of the cardiovascular system (HPO)", + "iris", + "Abnormality of the vasculature (HPO)", + "Abnormality of the vertebral column (HPO)", + "umbilicus", + "vascular system", + "cranium", + "abnormal bone of pectoral complex morphology", + "abnormal phalanx of manus morphology", + "arterial system", + "abnormal head bone morphology", + "abnormal leg", + "abnormal nose", + "long bone", + "Abnormal cerebral cortex morphology (HPO)", + "abnormal internal male genitalia", + "vein", + "abnormality of anatomical entity physiology", + "artery", + "increased size of the anatomical entity in independent continuant", + "Recurrent urinary tract infections (HPO)", + "protein-containing material entity", + "dermal skeletal element", + "Abnormality of the ear (HPO)", + "nervous system development", + "biological_process", + "Abnormal connection of the cardiac segments (HPO)", + "sexual reproduction", + "abnormal anatomical entity, curved", + "subdivision of skeleton", + "anatomical cluster", + "viscus", + "arterial blood vessel", + "esophagus", + "digit 5", + "venous blood vessel", + "Hernia of the abdominal wall (HPO)", + "epithelial tube", + "abnormal digestive system morphology", + "quality", + "manual digit digitopodial skeleton", + "asymmetrically curved anatomical entity", + "forelimb zeugopod bone", + "penis", + "Abnormal penis morphology (HPO)", + "abnormal head morphology", + "Hypermelanotic macule (HPO)", + "constricted anatomical entity", + "limb", + "Abnormality of brain morphology (HPO)", + "intromittent organ", + "system process", + "Abnormal blood vessel morphology (HPO)", + "organ component layer", + "Intellectual disability (HPO)", + "eye", + "Abnormal eye physiology (HPO)", + "endocrine gland", + "Neurodevelopmental abnormality (HPO)", + "abnormal iris morphology", + "tissue", + "Abnormality of mental function", + "paired limb/fin segment", + "urethra", + "central nervous system", + "abnormal pelvic girdle bone/zone morphology", + "skeleton of limb", + "shape forehead", + "abnormal soft palate morphology", + "morphogenesis of embryonic epithelium", + "palatine uvula", + "nervous system", + "abnormal vestibulo-ocular reflex", + "abnormal small intestine", + "Decreased anatomical entity mass", + "brain ventricle/choroid plexus", + "Abnormal appendicular skeleton morphology (HPO)", + "abnormal trachea morphology", + "upper digestive tract", + "Abnormality of the cerebrospinal fluid (HPO)", + "Abnormal ventricular septum morphology (HPO)", + "system", + "Abnormality of skull size (HPO)", + "cerebrospinal fluid", + "epithelium", + "process", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormality of anatomical entity mass", + "abnormal innominate bone morphology", + "bone element", + "Sloping forehead (HPO)", + "abnormal female reproductive system", + "abnormal nervous system morphology", + "mandible", + "zeugopodial skeleton", + "abnormal anatomical entity mass density", + "decreased developmental process", + "male gamete generation", + "upper urinary tract", "delayed biological_process", - "sloped forehead", - "Short forearm", - "abnormal biological_process", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", - "abnormal liver", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", - "hypertrophic cardiac ventricle", - "increased anatomical entity length in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", - "Hypertelorism", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", + "skeletal system", + "hindlimb endochondral element", + "Decreased head circumference (HPO)", + "abnormally increased number of brain ventricle in the independent continuant", + "lateral structure", + "manual digit plus metapodial segment", + "abnormal nervous system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", "abnormal anatomical entity topology in independent continuant", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Oligohydramnios", - "abnormal soft palate morphology", - "Abnormal duodenum morphology", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "Duodenal stenosis", - "abnormal intestine morphology", - "Abnormality of the lower limb", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal digit", + "limb segment", + "Dolichocephaly (HPO)", + "appendage girdle complex", + "Puberty and gonadal disorders (HPO)", + "Abnormal morphology of ulna (HPO)", + "Hydroureter (HPO)", + "innominate bone", + "abnormally increased number of anatomical entity", + "Abnormal preputium morphology (HPO)", + "decreased multicellular organism mass", + "physiologic nystagmus", + "Abnormality of skin morphology (HPO)", + "Abnormal cerebral ventricle morphology (HPO)", + "Epicanthus (HPO)", + "cardiovascular system", + "abdominal segment bone", "3-D shape anatomical entity", - "abnormal pedal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Almond-shaped palpebral fissure", + "Abnormality of the testis size (HPO)", + "Abnormality of refraction (HPO)", + "brain ventricle", + "disconnected anatomical group", + "ocular surface region", + "gamete", + "changed biological_process rate in independent continuant", + "Abnormality of the small intestine (HPO)", + "eyeball of camera-type eye", + "Abnormality of the curvature of the cornea (HPO)", + "Abnormal cornea morphology (HPO)", + "abnormal shape of cornea", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "skeleton of manus", + "abnormal shape of external ear", + "anterior segment of eyeball", + "bone element hypoplasia in face", + "blood vasculature", + "cornea", + "hindlimb bone", + "oviduct", + "Abnormal eye morphology (HPO)", + "reproductive organ", + "organism substance", + "digitopodium bone", + "forelimb zeugopod bone hypoplasia", + "Growth delay (HPO)", + "curvature anatomical entity in independent continuant", + "abnormal camera-type eye morphology", + "abnormal cornea, curved", + "anatomical structure", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal face", + "Abnormality of the lens (HPO)", + "Abnormal anterior eye segment morphology (HPO)", "shape digit", - "Clubbing", - "abnormal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "Abnormal midface morphology", - "abnormal male reproductive system", - "abnormal mouth morphology", - "abnormal oral cavity morphology", - "Hernia of the abdominal wall", - "Abnormal palate morphology", - "abnormal midface morphology", - "Abnormal soft palate morphology", - "clavate anatomical entity", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "abnormal integument", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "abnormal cardiac valve morphology in the heart", + "aplasia or hypoplasia of iris", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal limb bone", + "excretory system", + "abnormal skeletal joint morphology", + "Arteriovenous malformation (HPO)", + "aplasia or hypoplasia of telencephalon", + "abnormal brain morphology", + "abnormal cornea morphology", + "abnormal bone element mass density", + "manual digitopodium region", + "brain", + "digitopodium region", + "increased biological_process in skin of body", + "abnormal cornea, asymmetrically curved", + "Abnormal intestine morphology (HPO)", + "heart left ventricle", + "aplasia or hypoplasia of manual digit", + "tube", + "Abnormality of lower limb joint (HPO)", + "ulna endochondral element", + "Abnormality of the liver (HPO)", + "response to external stimulus", + "Abnormal respiratory system morphology (HPO)", + "abnormal brain ventricle morphology", + "autopod region", + "compound organ", + "clavate digit", + "Deviation of the 5th finger (HPO)", + "anatomical entity", + "pectoral complex", + "ulna", + "trunk region element", + "digestive system element", + "external soft tissue zone", + "gray matter", + "abnormal ocular adnexa morphology", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "Abnormal pulmonary valve morphology (HPO)", + "Abnormality of the calvaria (HPO)", + "respiratory tract", + "proximo-distal subdivision of respiratory tract", + "Sideroblastic anemia (HPO)", + "body proper", + "abnormal forelimb zeugopod", + "Abnormality of the digestive system (HPO)", + "hemopoiesis", + "femur", + "Metazoa", + "Neurodevelopmental delay (HPO)", + "multicellular organism reproduction", + "abnormal tracheobronchial tree morphology", + "subdivision of digestive tract", + "subdivision of tube", + "abdominal segment element", + "Abnormal tracheal morphology (HPO)", + "abnormal neural tube closure", + "Upper limb undergrowth (HPO)", + "digestive system", + "abnormal growth", + "Abnormal internal genitalia (HPO)", + "respiratory system", + "immaterial anatomical entity", + "Abnormal reproductive system morphology (HPO)", + "Abnormality of head or neck (HPO)", + "endochondral element", + "respiratory tube", + "abnormal blood vessel morphology", + "Ocular anterior segment dysgenesis (HPO)", + "curvature anatomical entity", + "Tracheoesophageal fistula (HPO)", + "skin of body", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "Abnormality of the phalanges of the toes (HPO)", + "multi-tissue structure", + "abnormal central nervous system morphology", + "Cryptorchidism (HPO)", + "abnormal closing of the anatomical entity", + "material entity", + "abnormal head", + "asymmetrically curved cornea", + "increased qualitatively biological_process", + "Abnormal localization of kidney (HPO)", + "anatomical line between pupils", + "system development", + "ocular adnexa", + "zone of skin", + "abnormal palatine uvula morphology", + "late embryo", + "abnormal external male genitalia", + "digestive tract", + "abnormal phalanx of pes", + "endoderm-derived structure", + "tracheobronchial tree", + "Hyperpigmentation of the skin (HPO)", + "abnormal cardiovascular system", + "Abnormality of the respiratory system (HPO)", + "Syndactyly (HPO)", + "pectoral appendage skeleton", + "male gamete", + "ectoderm-derived structure", + "Abnormal male reproductive system physiology (HPO)", + "Abnormality of thrombocytes (HPO)", + "Abnormal umbilicus morphology (HPO)", + "anatomical wall", + "Abnormal pinna morphology (HPO)", + "skeleton of pedal acropodium", + "abnormal shape of palpebral fissure", + "abnormal external ear morphology", + "abnormal reproductive system morphology", + "Conotruncal defect (HPO)", + "Cataract (HPO)", + "abnormal external ear", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal zone of skin morphology", + "digit 1 digitopodial skeleton", + "postcranial axial skeletal system", + "abnormal ear morphology", + "musculature of body", + "ventricular system of brain", + "reproductive system", + "Abnormal ear morphology (HPO)", + "joint of girdle", + "abnormal uvea morphology", + "Abnormality of globe location (HPO)", + "Abnormality of the gastrointestinal tract (HPO)", + "abnormal male reproductive organ morphology", + "male organism", + "skeleton of pedal digitopodium", + "abnormal reproductive process", + "transparent eye structure", + "lower limb segment", + "abnormal sensory perception of light stimulus", + "exocrine gland", + "abnormal esophagus morphology", + "lens of camera-type eye", + "behavior", + "anatomical conduit", + "Non-obstructive azoospermia (HPO)", + "abnormal incomplete closing of the ductus arteriosus", + "Abnormal spermatogenesis (HPO)", + "Abnormal oral cavity morphology (HPO)", + "abnormal skeletal system morphology", + "Joint dislocation (HPO)", + "internal male genitalia", + "occurrent", "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", + "Hypopigmented skin patches (HPO)", + "shape anatomical entity in independent continuant", + "cardiac chamber", + "changed developmental process rate", + "Abnormality of long bone morphology (HPO)", "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "paralysed cranial nerve", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormal peripheral nervous system morphology", - "Cranial nerve paralysis", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Aplasia/Hypoplasia of fingers", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", + "heart", + "Abnormality of the genitourinary system (HPO)", + "continuant", + "haploid cell", + "Short stature (HPO)", + "Upslanted palpebral fissure (HPO)", + "abnormal developmental process involved in reproduction", + "decreased biological_process in multicellular organism", + "hypertrophic multicellular anatomical structure", + "spermatogenesis", + "gray matter of telencephalon", + "parasympathetic nervous system", + "vertebra", + "prepuce of penis", + "abnormal liver", + "abnormally fused anatomical entity and pedal digit", + "Abnormality of ganglion of peripheral nervous system (HPO)", + "abnormality of nervous system physiology", + "abnormal enteric ganglion morphology", + "Abnormality of male external genitalia (HPO)", + "abnormality of anatomical entity height", + "abnormal genitourinary system", + "appendicular skeletal system", + "cranial nerve related reflex", + "abnormal anatomical entity morphology in the independent continuant", + "increased height of anatomical entity in independent continuant", + "germ cell", + "abnormality of cardiovascular system physiology", + "multicellular organism development", + "abnormal spermatogenesis", + "shape eyelid", + "craniocervical region", + "abnormal connective tissue", + "aortic valve", + "abnormal eyeball of camera-type eye", + "testis", + "Triphalangeal thumb (HPO)", + "forelimb long bone", + "Limb undergrowth (HPO)", + "cell", + "phenotype by ontology source", + "germ line cell", + "Abnormal heart morphology (HPO)", + "abnormal gamete generation", + "gamete generation", + "abnormal embryonic tissue morphology", + "subdivision of organism along appendicular axis", + "abnormal forelimb zeugopod bone", + "left cardiac chamber", + "abnormal vascular system morphology", + "increased height of the anatomical entity", + "external male genitalia", + "developmental process", + "multicellular organismal process", "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the eye", - "Finger clinodactyly", - "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "Abnormality of the skeletal system", - "Deviation of finger", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the ulna", - ], - }, - { - "id": "HGNC:26144", - "category": "biolink:Gene", - "name": "PALB2", - "xref": ["ENSEMBL:ENSG00000083093", "OMIM:610355"], - "provided_by": "hgnc_gene_nodes", - "synonym": ["FLJ21816", "FANCN", "Fanconi anemia, complementation group N"], - "full_name": "partner and localizer of BRCA2", - "in_taxon": "NCBITaxon:9606", - "in_taxon_label": "Homo sapiens", - "symbol": "PALB2", - "namespace": "HGNC", - "has_phenotype": [ - "HP:0000582", - "HP:0000470", - "HP:0000483", - "HP:0000377", - "HP:0000238", - "HP:0100615", - "HP:0010469", - "HP:0002017", - "HP:0002575", - "HP:0001249", - "HP:0001882", - "HP:0000508", - "HP:0001824", - "HP:0001824", - "HP:0000518", - "HP:0030406", - "HP:0000453", - "HP:0012432", - "HP:0005344", - "HP:0007874", - "HP:0002861", - "HP:0002861", - "HP:0000252", - "HP:0000252", - "HP:0008053", - "HP:0000952", - "HP:0000957", - "HP:0040071", - "HP:0100026", + "external genitalia", + "reproductive structure", + "abnormal semi-lunar valve morphology", + "anatomical structure formation involved in morphogenesis", + "abnormal reproductive system", + "animal cell", + "abnormality of reproductive system physiology", + "gonad", + "phalanx endochondral element", + "Abnormal ear physiology (HPO)", + "limb skeleton subdivision", + "ecto-epithelium", + "Abnormal upper limb bone morphology (HPO)", + "face", + "Pes planus (HPO)", + "abnormal craniocervical region", + "Hip dislocation (HPO)", + "decreased qualitatively biological_process", + "decreased biological_process", + "Choanal atresia (HPO)", + "olfactory system", + "abnormal cerebrospinal fluid", + "simple eye", + "abnormal peripheral nervous system morphology", + "ductus arteriosus", + "abnormal eyelid morphology", + "neuron projection bundle", + "abnormal heart right ventricle morphology", + "Abnormality of forearm bone (HPO)", + "semen", + "Abnormal facial shape (HPO)", + "curved anatomical entity in independent continuant", + "neural crest-derived structure", + "Abnormality of the abdominal organs (HPO)", + "anterior chamber of eyeball", + "Abnormal right ventricle morphology (HPO)", + "Abnormal leukocyte count (HPO)", + "increased size of the brain ventricle", + "Abnormal testis morphology (HPO)", + "multicellular organism", + "Abnormal uvula morphology (HPO)", + "decreased qualitatively pigmentation", + "abnormal ocular adnexa", + "abnormal vein morphology", + "flat anatomical entity", + "Abnormality of the kidney (HPO)", + "Abnormal external genitalia (HPO)", + "Abnormal cerebral morphology (HPO)", + "aplasia or hypoplasia of skeleton", + "Aplasia/Hypoplasia affecting the uvea (HPO)", + "developmental process involved in reproduction", + "heart right ventricle", + "cellular organisms", + "manual digit", + "main body axis", + "Abnormality of the integument (HPO)", + "segment of pes", + "multicellular organismal reproductive process", + "abdomen element", + "Abnormal vascular morphology (HPO)", + "subdivision of trunk", + "external ear", + "reproduction", + "abnormal cardiovascular system morphology", + "erythrocyte homeostasis", + "abnormal arch of centrum of vertebra", + "venous system", + "Abnormal renal morphology (HPO)", + "abnormal hip joint morphology", + "Hypospadias (HPO)", + "Abnormal axial skeleton morphology (HPO)", + "changed biological_process rate", + "material anatomical entity", + "Abnormality of connective tissue (HPO)", + "abnormal number of anatomical enitites of type anatomical entity", + "entity", + "Abnormal cardiovascular system physiology (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "cardiac valve", + "decreased spermatogenesis", + "digit 1 plus metapodial segment", + "abnormal ear", + "Hypogonadism (HPO)", + "sensory perception of light stimulus", + "somatic cell", + "Abnormal erythrocyte morphology (HPO)", + "Abnormal shape of the frontal region (HPO)", + "Abnormal frontal bone morphology (HPO)", + "Abnormality of male internal genitalia (HPO)", + "abnormal internal genitalia", + "anatomical collection", + "cranial skeletal system", + "Azoospermia (HPO)", + "curved anatomical entity", + "zone of organ", + "orifice", + "abnormal orbital region", + "abnormal male reproductive system", + "aplasia or hypoplasia of anatomical entity", + "primary circulatory organ", + "Abnormality of corneal shape (HPO)", + "decreased qualitatively reproductive process", + "native cell", + "uvea", + "increased size of the head", + "Abnormality of the palpebral fissures (HPO)", + "bone of free limb or fin", + "bone of jaw", + "organ", + "Anemia of inadequate production (HPO)", + "manual digit phalanx endochondral element", + "jaw region", + "Abnormality of thumb phalanx (HPO)", + "pelvic appendage skeleton", + "entire sense organ system", + "multicellular organismal-level homeostasis", + "manus bone", + "Abnormality of the male genitalia (HPO)", + "posterior region of body", + "anatomical cavity", + "Abnormal ocular adnexa morphology (HPO)", + "systemic artery", + "abnormal size of head", + "manual digit 5 plus metapodial segment", + "structure with developmental contribution from neural crest", + "skin of face", + "decreased qualitatively developmental process", + "pelvic complex", + "sperm", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "sense organ", + "circulatory system", + "Abnormality of the ocular adnexa (HPO)", + "flat longitudinal arch of pes", + "Abnormality of the face (HPO)", + "genitourinary system", + "multicellular anatomical structure", + "head", + "Ventricular septal defect (HPO)", + "subdivision of head", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "abnormal alimentary part of gastrointestinal system", + "3-D shape anatomical entity in independent continuant", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "abnormally fused pedal digit and anatomical entity", + "autonomic ganglion", + "palpebral fissure", + "ear", + "forelimb bone", + "Hearing abnormality (HPO)", + "cognition", + "abnormal anatomical entity morphology in the skeleton of manus", + "coronary vessel", + "abnormal anatomical entity, asymmetrically curved", + "phalanx", + "abnormally fused anatomical entity and manual digit", + "digestive system gland", + "Abnormality of the synovia (HPO)", + "Neoplasm by anatomical site (HPO)", + "abnormal penis", + "Cardiomyopathy (HPO)", + "thoracic cavity element", + "abnormal hard palate morphology", + "abnormal phenotype by ontology source", + "Abnormal cellular phenotype (HPO)", + "alimentary part of gastrointestinal system", + "abnormal amniotic fluid", + "phenotype", + "subdivision of organism along main body axis", + "radius endochondral element", + "abnormal respiratory tube morphology", + "reproductive process", + "cell development", + "All (HPO)", + "prominent forehead", + "Abnormality of the outer ear (HPO)", + "anterior region of body", + "vessel", + "Ventriculomegaly (HPO)", + "Phenotypic abnormality", + "abnormal ulna", + "orbital region", + "Abnormality of the upper urinary tract (HPO)", + ], + }, + { + "id": "HGNC:26144", + "category": "biolink:Gene", + "name": "PALB2", + "xref": ["ENSEMBL:ENSG00000083093", "OMIM:610355"], + "provided_by": "hgnc_gene_nodes", + "synonym": ["FLJ21816", "FANCN", "Fanconi anemia, complementation group N"], + "full_name": "partner and localizer of BRCA2", + "in_taxon": "NCBITaxon:9606", + "in_taxon_label": "Homo sapiens", + "symbol": "PALB2", + "namespace": "HGNC", + "has_phenotype": [ + "HP:0000582", + "HP:0000470", + "HP:0000483", + "HP:0000238", + "HP:0100615", + "HP:0010469", + "HP:0002017", + "HP:0002575", + "HP:0001249", + "HP:0001882", + "HP:0000508", + "HP:0001824", + "HP:0001824", + "HP:0000518", + "HP:0030406", + "HP:0000453", + "HP:0012432", + "HP:0005344", + "HP:0007874", + "HP:0002861", + "HP:0002861", + "HP:0000252", + "HP:0000252", + "HP:0000952", + "HP:0000957", + "HP:0040071", + "HP:0100026", "HP:0004396", "HP:0012639", "HP:0100587", @@ -5444,14 +8443,14 @@ def autocomplete_response(): "HP:0000316", "HP:0000316", "HP:0002910", - "HP:0001510", "HP:0002863", + "HP:0001562", "HP:0000864", "HP:0002254", "HP:0002119", "HP:0000027", "HP:0001392", - "HP:0001562", + "HP:0001510", "HP:0001873", "HP:0001871", "HP:0000568", @@ -5496,6 +8495,7 @@ def autocomplete_response(): "HP:0000268", "HP:0000286", "HP:0000286", + "HP:0008053", "HP:0003221", "HP:0003220", "HP:0010293", @@ -5553,2445 +8553,3700 @@ def autocomplete_response(): "HP:0006101", "HP:0001263", "HP:0002414", + "HP:0008572", "HP:0001199", "HP:0001172", ], "has_phenotype_label": [ - "Upslanted palpebral fissure", - "Short neck", - "Astigmatism", - "Abnormal pinna morphology", - "Hydrocephalus", - "Ovarian neoplasm", - "Absent testis", - "Nausea and vomiting", - "Tracheoesophageal fistula", - "Intellectual disability", - "Leukopenia", - "Ptosis", - "Weight loss", - "Weight loss", - "Cataract", - "Primary peritoneal carcinoma", - "Choanal atresia", - "Chronic fatigue", - "Abnormal carotid artery morphology", - "Almond-shaped palpebral fissure", - "Melanoma", - "Melanoma", - "Microcephaly", - "Microcephaly", - "Aplasia/Hypoplasia of the iris", - "Jaundice", - "Cafe-au-lait spot", - "Abnormal morphology of ulna", - "Arteriovenous malformation", - "Poor appetite", - "Abnormal nervous system morphology", - "Abnormal preputium morphology", - "Anal atresia", - "Hepatosplenomegaly", - "Scoliosis", - "Nephroblastoma", - "Hypospadias", - "Hypertelorism", - "Hypertelorism", - "Elevated hepatic transaminase", - "Growth delay", - "Myelodysplasia", - "Abnormality of the hypothalamus-pituitary axis", - "Intermittent diarrhea", - "Ventriculomegaly", - "Azoospermia", - "Abnormality of the liver", - "Oligohydramnios", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Microphthalmia", - "Abnormality of vision", - "Visual impairment", - "Proptosis", - "Pancreatic adenocarcinoma", - "Abnormal foot morphology", - "Pes planus", - "Toe syndactyly", - "Abnormal eyelid morphology", - "Abnormality of the eye", - "Strabismus", - "Exocrine pancreatic insufficiency", - "Atrial septal defect", - "Tetralogy of Fallot", - "Hypertrophic cardiomyopathy", - "Ventricular septal defect", - "Facial asymmetry", - "Patent ductus arteriosus", - "Abnormal aortic valve morphology", - "Micrognathia", - "Abnormal aortic morphology", - "Sloping forehead", - "Abnormal cardiac septum morphology", - "Extrahepatic cholestasis", - "Hearing abnormality", - "Hearing impairment", - "Functional intestinal obstruction", - "Abnormal fallopian tube morphology", - "Aplasia/Hypoplasia of the radius", - "Intrauterine growth retardation", - "Umbilical hernia", - "Medulloblastoma", - "Neoplasm of the pancreas", - "High palate", - "Abnormal renal morphology", - "Neoplasm of the liver", - "Abnormality of femur morphology", - "Hip dislocation", - "Abnormality of the upper limb", - "Dolichocephaly", - "Epicanthus", - "Epicanthus", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of chromosome stability", - "Aplasia/Hypoplasia of the uvula", - "Bicornuate uterus", - "Diabetes mellitus", - "Short palpebral fissure", - "Reduced bone mineral density", - "Hypoplasia of the ulna", - "Neuroblastoma", - "Intestinal pseudo-obstruction", - "Colon cancer", - "Breast carcinoma", - "Breast carcinoma", - "Short stature", - "Aplastic anemia", - "Anemia", - "Nystagmus", - "Cranial nerve paralysis", - "Pyridoxine-responsive sideroblastic anemia", - "Clinodactyly of the 5th finger", - "Short thumb", - "Abnormality of skin pigmentation", - "Hypopigmented skin patches", - "Clubbing of toes", - "Aganglionic megacolon", - "Meckel diverticulum", - "Back pain", - "Peritoneal abscess", - "Anorexia", - "Abnormal localization of kidney", - "Frontal bossing", - "Abdominal pain", - "Lymphadenopathy", - "Abnormality of the uterus", - "Aplasia/Hypoplasia of fingers", - "Hypogonadism", - "Prostate cancer", - "Cleft palate", - "Autosomal recessive inheritance", - "Recurrent urinary tract infections", - "Neoplasm", - "Postnatal growth retardation", - "Multiple cafe-au-lait spots", - "Cryptorchidism", - "Abnormal testis morphology", - "Hyperreflexia", - "Ovarian carcinoma", - "Decreased fertility in males", - "Hydroureter", - "Abnormality of the urinary system", - "Renal insufficiency", - "Renal hypoplasia/aplasia", - "Duodenal stenosis", - "Irregular hyperpigmentation", - "Finger syndactyly", - "Global developmental delay", - "Spina bifida", - "Triphalangeal thumb", - "Abnormal thumb morphology", + "Upslanted palpebral fissure (HPO)", + "Short neck (HPO)", + "Astigmatism (HPO)", + "Hydrocephalus (HPO)", + "Ovarian neoplasm (HPO)", + "Absent testis (HPO)", + "Nausea and vomiting (HPO)", + "Tracheoesophageal fistula (HPO)", + "Intellectual disability (HPO)", + "Leukopenia (HPO)", + "Ptosis (HPO)", + "Weight loss (HPO)", + "Weight loss (HPO)", + "Cataract (HPO)", + "Primary peritoneal carcinoma (HPO)", + "Choanal atresia (HPO)", + "Chronic fatigue (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Melanoma (HPO)", + "Melanoma (HPO)", + "Microcephaly (HPO)", + "Microcephaly (HPO)", + "Jaundice (HPO)", + "Cafe-au-lait spot (HPO)", + "Abnormal morphology of ulna (HPO)", + "Arteriovenous malformation (HPO)", + "Poor appetite (HPO)", + "Abnormal nervous system morphology (HPO)", + "Abnormal preputium morphology (HPO)", + "Anal atresia (HPO)", + "Hepatosplenomegaly (HPO)", + "Scoliosis (HPO)", + "Nephroblastoma (HPO)", + "Hypospadias (HPO)", + "Hypertelorism (HPO)", + "Hypertelorism (HPO)", + "Elevated hepatic transaminase (HPO)", + "Myelodysplasia (HPO)", + "Oligohydramnios (HPO)", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Intermittent diarrhea (HPO)", + "Ventriculomegaly (HPO)", + "Azoospermia (HPO)", + "Abnormality of the liver (HPO)", + "Growth delay (HPO)", + "Thrombocytopenia (HPO)", + "Abnormality of blood and blood-forming tissues (HPO)", + "Microphthalmia (HPO)", + "Abnormality of vision (HPO)", + "Visual impairment (HPO)", + "Proptosis (HPO)", + "Pancreatic adenocarcinoma (HPO)", + "Abnormal foot morphology (HPO)", + "Pes planus (HPO)", + "Toe syndactyly (HPO)", + "Abnormal eyelid morphology (HPO)", + "Abnormality of the eye (HPO)", + "Strabismus (HPO)", + "Exocrine pancreatic insufficiency (HPO)", + "Atrial septal defect (HPO)", + "Tetralogy of Fallot (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "Ventricular septal defect (HPO)", + "Facial asymmetry (HPO)", + "Patent ductus arteriosus (HPO)", + "Abnormal aortic valve morphology (HPO)", + "Micrognathia (HPO)", + "Abnormal aortic morphology (HPO)", + "Sloping forehead (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "Extrahepatic cholestasis (HPO)", + "Hearing abnormality (HPO)", + "Hearing impairment (HPO)", + "Functional intestinal obstruction (HPO)", + "Abnormal fallopian tube morphology (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Intrauterine growth retardation (HPO)", + "Umbilical hernia (HPO)", + "Medulloblastoma (HPO)", + "Neoplasm of the pancreas (HPO)", + "High palate (HPO)", + "Abnormal renal morphology (HPO)", + "Neoplasm of the liver (HPO)", + "Abnormality of femur morphology (HPO)", + "Hip dislocation (HPO)", + "Abnormality of the upper limb (HPO)", + "Dolichocephaly (HPO)", + "Epicanthus (HPO)", + "Epicanthus (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Abnormality of chromosome stability (HPO)", + "Aplasia/Hypoplasia of the uvula (HPO)", + "Bicornuate uterus (HPO)", + "Diabetes mellitus (HPO)", + "Short palpebral fissure (HPO)", + "Reduced bone mineral density (HPO)", + "Hypoplasia of the ulna (HPO)", + "Neuroblastoma (HPO)", + "Intestinal pseudo-obstruction (HPO)", + "Colon cancer (HPO)", + "Breast carcinoma (HPO)", + "Breast carcinoma (HPO)", + "Short stature (HPO)", + "Aplastic anemia (HPO)", + "Anemia (HPO)", + "Nystagmus (HPO)", + "Cranial nerve paralysis (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "Short thumb (HPO)", + "Abnormality of skin pigmentation (HPO)", + "Hypopigmented skin patches (HPO)", + "Clubbing of toes (HPO)", + "Aganglionic megacolon (HPO)", + "Meckel diverticulum (HPO)", + "Back pain (HPO)", + "Peritoneal abscess (HPO)", + "Anorexia (HPO)", + "Abnormal localization of kidney (HPO)", + "Frontal bossing (HPO)", + "Abdominal pain (HPO)", + "Lymphadenopathy (HPO)", + "Abnormality of the uterus (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Hypogonadism (HPO)", + "Prostate cancer (HPO)", + "Cleft palate (HPO)", + "Autosomal recessive inheritance (HPO)", + "Recurrent urinary tract infections (HPO)", + "Neoplasm (HPO)", + "Postnatal growth retardation (HPO)", + "Multiple cafe-au-lait spots (HPO)", + "Cryptorchidism (HPO)", + "Abnormal testis morphology (HPO)", + "Hyperreflexia (HPO)", + "Ovarian carcinoma (HPO)", + "Decreased fertility in males (HPO)", + "Hydroureter (HPO)", + "Abnormality of the urinary system (HPO)", + "Renal insufficiency (HPO)", + "Renal hypoplasia/aplasia (HPO)", + "Duodenal stenosis (HPO)", + "Irregular hyperpigmentation (HPO)", + "Finger syndactyly (HPO)", + "Global developmental delay (HPO)", + "Spina bifida (HPO)", + "External ear malformation (HPO)", + "Triphalangeal thumb (HPO)", + "Abnormal thumb morphology (HPO)", ], "has_phenotype_count": 145, "has_phenotype_closure": [ - "HP:0005918", + "UBERON:0012358", + "HP:0001199", + "UBERON:0001436", + "UBERON:0005897", "UPHENO:0021800", - "UPHENO:0087858", - "HP:0410043", - "UPHENO:0088123", - "UPHENO:0051003", - "UPHENO:0087665", - "HP:0002414", - "HP:0045005", - "UPHENO:0051077", - "HP:0002143", + "UBERON:0004249", + "UBERON:0015024", + "UBERON:5101463", + "UPHENO:0084447", + "UBERON:5106048", + "UBERON:5102389", + "UPHENO:0071324", + "HP:0000377", + "HP:0008572", + "UBERON:0001691", + "UBERON:0002240", + "UBERON:0002050", + "GO:0048646", + "GO:0009653", + "HP:0003312", "UPHENO:0076744", - "UPHENO:0076707", + "GO:0014020", + "GO:0001841", + "UBERON:0001049", + "UBERON:0005291", "HP:0010301", + "HP:0045005", + "UPHENO:0051003", + "UPHENO:0051077", + "UPHENO:0076695", + "UBERON:0010358", + "GO:0060606", + "GO:0072175", + "GO:0007399", + "GO:0016331", + "GO:0002009", + "GO:0009792", + "HP:0008438", + "UBERON:0003914", "HP:0003468", + "GO:0001838", + "GO:0043009", + "UBERON:0000483", + "HP:0410043", + "HP:0002143", + "GO:0048731", + "GO:0035239", + "UBERON:0001075", + "UBERON:0016879", "HP:0012758", - "UPHENO:0078288", "HP:0006101", - "UPHENO:0078215", - "UPHENO:0078267", "HP:0002246", - "HP:0100867", + "UBERON:0002114", + "UPHENO:0081868", "HP:0008678", - "HP:0000083", - "UPHENO:0002411", "HP:0012211", - "UPHENO:0086132", + "HP:0000083", + "UBERON:0036295", "HP:0025633", - "UPHENO:0002806", - "HP:0000144", + "UBERON:0006555", + "UPHENO:0021780", + "HP:0000069", + "UBERON:0000056", + "HP:0000072", "HP:0012041", "HP:0025318", - "HP:0000520", - "UPHENO:0050620", - "UPHENO:0002819", - "UPHENO:0001005", - "HP:0000568", - "UPHENO:0084928", - "UPHENO:0085118", - "UPHENO:0084987", - "UPHENO:0086173", - "UPHENO:0085070", - "HP:0001562", - "HP:0002827", - "UPHENO:0001440", - "UPHENO:0086049", - "HP:0002863", - "UPHENO:0031193", - "UPHENO:0076803", - 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"UPHENO:0080585", + "UPHENO:0003055", + "UBERON:0015212", + "CL:0000151", + "UPHENO:0012541", + "UBERON:0003133", + "UPHENO:0020950", + "HP:0025033", + "HP:0000593", + "UPHENO:0075169", + "UBERON:0000062", + "NCBITaxon:33208", + "GO:0031052", + "HP:0000008", + "UBERON:0007811", + "UPHENO:0075219", + "HP:0002683", + "UPHENO:0019888", + "UPHENO:0050620", + "UBERON:0004122", + "UPHENO:0002595", + "HP:0008056", + "UBERON:0000072", + "UBERON:0003975", + "HP:0002664", + "UPHENO:0021823", "HP:0001549", - "UPHENO:0019477", - "UPHENO:0021038", - "UPHENO:0086612", - "HP:0100587", - "UPHENO:0079835", + "HP:0002118", + "UBERON:0000989", + "UBERON:0007779", + "UPHENO:0081313", + "UBERON:0000065", + "HP:0004328", + "HP:0025668", + "UPHENO:0033603", + "UPHENO:0075877", + "UPHENO:0078215", + "PR:000018263", + "UPHENO:0020119", + "HP:0034261", + "HP:0012759", + "UBERON:0001846", + "CHEBI:36080", + "UPHENO:0015282", + "HP:0004377", + "UBERON:0002193", + "UBERON:0000477", + "HP:0100491", + "UPHENO:0019663", + "HP:0025461", + "HP:0001770", + "UPHENO:0075933", + "HP:0002414", + "UPHENO:0081598", + "UPHENO:0069249", + "HP:0000478", + "UPHENO:0080300", + "GO:0009890", + "HP:0001626", + "UBERON:0006077", + "HP:0008897", + "UPHENO:0021447", + "UPHENO:0015290", + "UBERON:0002082", + "UBERON:0003607", + "UPHENO:0076805", + "HP:0200006", + "UPHENO:0010795", + "HP:0040004", + "UPHENO:0033559", + "HP:0011821", + "UPHENO:0076799", + "UBERON:0000075", + "HP:0100691", + "HP:0011873", + "UPHENO:0031129", + "HP:0002624", + "UBERON:0010712", + "UPHENO:0082875", + "UPHENO:0050625", + "UPHENO:0020584", + "UBERON:0000167", + "UPHENO:0076785", + "UPHENO:0001208", + "UBERON:0000020", + "UBERON:0011138", + "UPHENO:0041591", + "UPHENO:0019613", + "CL:0000000", + "HP:0045010", + "HP:0003319", + "HP:0100790", + "HP:0000001", + "UBERON:0005156", + "HP:0002119", + "UBERON:0001359", + "UBERON:0000153", + "UPHENO:0014240", + "UBERON:0006314", + "NBO:0000313", + "UPHENO:0041041", + "UBERON:0000055", + "HP:0002060", + "UBERON:0000061", + "HP:0000483", + "UPHENO:0041098", + "GO:0048232", + "HP:0040064", + "UBERON:0010313", + "UBERON:0000057", + "UPHENO:0020888", + "UPHENO:0041079", + "UBERON:0012354", + "UBERON:0005173", + "HP:0011893", + "UBERON:0002413", + "UPHENO:0076727", + "UPHENO:0002332", + "HP:0011842", + "HP:0012718", + "CL:0000015", + "HP:0025031", "UPHENO:0042834", + "HP:0000481", + "UBERON:5002389", + "UPHENO:0003044", + "UPHENO:0024906", + "UPHENO:0003048", + "UPHENO:0080581", + "UPHENO:0002964", + "UBERON:0005177", + "UBERON:0000468", + "UBERON:0007832", + "HP:0010469", + "HP:0009602", + "UBERON:0003458", + "UBERON:0001684", + "UPHENO:0075945", + "UBERON:0003216", + "UBERON:0003037", + "PATO:0000001", + "HP:0031093", + "UBERON:0001130", + "UPHENO:0056212", + "HP:0004396", + "CHEBI:23367", + "UBERON:0005434", + "CL:0000225", + "HP:0001629", + "UPHENO:0019890", + "CHEBI:33579", + "UBERON:0000463", + "UBERON:8450002", + "UPHENO:0002700", + "HP:0000238", + "HP:0000359", "UPHENO:0072195", - "UPHENO:0080595", - "UPHENO:0002219", - "HP:0011218", - "UPHENO:0084465", - "UPHENO:0041041", - "UPHENO:0082905", - "HP:0000952", - "HP:0430000", - "HP:0002027", - "HP:0002733", - "UPHENO:0080221", - "UPHENO:0083530", - "UPHENO:0075161", - "HP:0002716", - "HP:0000022", - "UPHENO:0087645", - "UPHENO:0052778", - "HP:0000202", - "HP:5201015", + "UBERON:0000974", + "UBERON:0005174", + "UPHENO:0033626", + "HP:0012443", + "UPHENO:0076735", + "UPHENO:0020470", + "GO:0032098", + "UPHENO:0002934", + "CHEBI:36357", + "HP:0012639", + "UBERON:0003498", + "HP:0001643", + "UBERON:0001137", + "UPHENO:0002806", + "UBERON:0000003", + "HP:0000924", + "UPHENO:0084729", + "UPHENO:0021791", + "UPHENO:0081581", + "GO:0060562", + "UBERON:5006048", + "HP:0008669", + "UBERON:0004573", + "UPHENO:0031839", + "UPHENO:0002433", + "HP:0010468", + "HP:0001873", + "UBERON:0000117", + "HP:0000002", + "HP:0000077", + "UPHENO:0076740", + "UBERON:0004771", + "HP:0002585", + "UPHENO:0079828", + "UBERON:0035639", + "CHEBI:33694", + "UBERON:0010230", + "GO:0016043", + "UBERON:0010913", + "GO:0050953", + "HP:0031105", + "HP:0000549", + "UBERON:0001434", + "UBERON:0001690", + "UPHENO:0022529", + "HP:0001639", + "HP:0004378", + "UBERON:0005282", + "UPHENO:0076729", + "UBERON:0005281", + "UBERON:0015063", + "UBERON:0004120", + "UBERON:5001463", + "UBERON:0011137", + "UBERON:0010364", + "UPHENO:0050113", + "UBERON:0000964", + "UBERON:0001819", + "UPHENO:0004536", + "UBERON:0002146", + "UPHENO:0081834", + "UBERON:0004535", + "UPHENO:0072194", + "UBERON:0008001", + "UPHENO:0063599", + "UPHENO:0002844", + "UBERON:0000475", + "UBERON:0010709", + "UBERON:0001424", + "UBERON:0001062", + "UBERON:0015061", "UPHENO:0003098", - "HP:0000175", - "UPHENO:0033635", - "UPHENO:0080362", - "HP:0001511", - "HP:0032101", - "UPHENO:0086100", - "HP:0010978", - "HP:0030063", - "HP:0007565", - "UPHENO:0069293", - "HP:0040019", - "UPHENO:0053580", - "UPHENO:0083263", - "HP:0001347", - "UPHENO:0005994", - "UPHENO:0055092", + "UBERON:0001893", + "UBERON:0001043", + "UBERON:0004111", + "UBERON:0010409", + "UPHENO:0002599", + "HP:0005927", + "UBERON:0007375", + "UBERON:0005445", + "UBERON:0001638", + "UBERON:0003978", + "UBERON:0002104", + "HP:0011027", + "HP:0100737", + "UPHENO:0081574", + "UPHENO:0079839", + "UPHENO:0002261", + "GO:0060429", + "UBERON:0000467", + "HP:0100543", + "HP:0001667", + "HP:0034684", + "UPHENO:0075696", + "HP:0000520", + "HP:0000582", + "BFO:0000020", + "HP:0001396", + "UBERON:0001981", + "UBERON:0013701", + "HP:0000025", + "UPHENO:0002901", + "UBERON:0004905", + "UBERON:0003697", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0010707", + "UPHENO:0002833", + "UBERON:0001032", + "UBERON:0034921", + "UPHENO:0076692", + "UBERON:0000178", + "HP:0011458", + "CL:0000003", + "UBERON:0001711", + "HP:0012331", + "HP:0008050", + "UPHENO:0076730", + "UBERON:0015203", + "UBERON:0001016", + "UPHENO:0076703", + "UBERON:0000992", + "UBERON:0004456", + "UPHENO:0075712", + "HP:0000152", + "UPHENO:0020539", + "BFO:0000001", + "BFO:0000040", + "UPHENO:0054957", + "UPHENO:0077885", + "UPHENO:0015280", + "HP:0000819", + "UBERON:0001272", + "UBERON:0006072", + "CL:0000019", + "UBERON:0000064", + "UBERON:0007100", + "UBERON:0001558", + "UBERON:0000465", + "UBERON:0005725", + "UBERON:0005944", + "UPHENO:0041146", ], "has_phenotype_closure_label": [ - "Abnormal finger phalanx morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "Abnormality of thumb phalanx", - "Triphalangeal thumb", - "Spina bifida", - "Vertebral arch anomaly", - "Abnormal form of the vertebral bodies", - "abnormal arch of centrum of vertebra", - "flat anatomical entity", - "abnormal bone marrow morphology", - "abnormal cerebral cortex morphology", - "Abnormality of the lower limb", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "Abnormality of the ureter", - "abnormal size of eyeball of camera-type eye", - "Abnormal myeloid cell morphology", - "Abnormal abdomen morphology", - "Abnormality of pancreas physiology", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal platelet count", - "abnormal internal male genitalia morphology", - "Oligohydramnios", - "abnormal amniotic fluid", - "abnormal cerebrospinal fluid morphology", - "Abnormal ocular adnexa morphology", - "abnormal size of brain ventricle", - "Exocrine pancreatic insufficiency", - "Frontal bossing", - "Ovarian neoplasm", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal hypothalamus-pituitary axis", - "Reduced bone mineral density", - "Myelodysplasia", - "delayed biological_process", - "Abnormal enzyme concentration or activity", - "abnormal facial skeleton morphology", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "increased anatomical entity length in independent continuant", - "hypertrophic cardiac ventricle", - "Toe syndactyly", - "Abnormality of the lower urinary tract", - "abnormal urethra", - "decreased pigmentation in independent continuant", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Renal neoplasm", - "Abnormal prostate morphology", - "Abnormality of the upper urinary tract", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "Peripheral primitive neuroectodermal neoplasm", - "shape longitudinal arch of pes", - "decreased length of neck", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Embryonal neoplasm", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Scoliosis", - "abnormal cardiac atrium morphology", - "Abnormal curvature of the vertebral column", - "Digestive system neoplasm", - "Abnormality of the integument", - "Epicanthus", - "abnormal hepatobiliary system morphology", - "anatomical entity hypoplasia in face", - "abnormal spleen", - "Abnormal oral cavity morphology", - "abnormal pancreas", - "increased size of the spleen", - "Abnormal endocrine morphology", - "abnormal leg", - "Abnormal liver morphology", - "increased size of the viscus", - "Hepatosplenomegaly", - "abnormal biological_process in independent continuant", - "Abnormality of metabolism/homeostasis", - "Abnormal circulating enzyme concentration or activity", - "abnormal blood cell", - "anus atresia", - "abnormal skull morphology", - "Short long bone", - "increased size of the brain ventricle", - "Neoplasm of the breast", - "abnormal anus", - "Neuroectodermal neoplasm", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormality of the forehead", - "Fatigue", - "abnormality of multicellular organism height", - "abnormal limb morphology", - "Abnormality of the spleen", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Cardiomyopathy", - "Abnormality of limb bone morphology", - "abnormal limb long bone morphology", - "Atypical behavior", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormality of limbs", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal male urethral meatus morphology", - "Abnormal morphology of ulna", - "Aplastic anemia", - "flattened anatomical entity", - "bone element hypoplasia in face", - "abnormal manus", - "Abnormality of globe location", - "Strabismus", - "abnormal prostate gland", - "abnormal embryonic tissue morphology", - "aplasia or hypoplasia of iris", - "abnormal myeloid cell morphology", - "Abnormal spleen morphology", - "abnormal semi-lunar valve morphology", - "increased biological_process", + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "manual digit digitopodial skeleton", + "abnormal phalanx morphology", + "manual digit phalanx endochondral element", + "manual digit 1 digitopodial skeleton", + "Abnormal finger phalanx morphology (HPO)", + "manual digit 1 phalanx endochondral element", + "phalanx of manus", + "manus bone", + "abnormally formed external ear", + "abnormal external ear morphology", "abnormal external ear", - "Prostate cancer", - "increased pigmentation in independent continuant", - "increased biological_process in independent continuant", - "abnormally decreased number of anatomical entity in the independent continuant", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "Abnormality of the endocrine system", - "abnormal endocrine system", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Cholestasis", - "abnormal digit", - "Jaundice", - "Neurodevelopmental delay", - "Abnormality of the pancreas", - "abnormal biliary system", - "abnormal liver", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "Abnormality of the head", - "Abnormality of the liver", - "Aplasia/Hypoplasia affecting the uvea", - "Aplasia/Hypoplasia of the iris", - "flat anatomical entity in independent continuant", - "abnormal mandible morphology", - "abnormal size of spleen", - "increased qualitatively biological_process in independent continuant", - "Abnormal ileum morphology", - "Anal atresia", - "abnormally formed anterior chamber of eyeball", - "Ocular anterior segment dysgenesis", - "abnormal skeletal joint morphology", - "Abnormal localization of kidney", - "abnormal penis", - "abnormal duodenum morphology", - "herniated anatomical entity", - "abnormal size of skull", - "abnormal embryo morphology", - "abnormal parasympathetic nervous system morphology", - "Decreased head circumference", - "Hypogonadism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "Abnormal forebrain morphology", - "abnormal forebrain morphology", - "abnormal shape of cornea", - "abnormal anatomical entity morphology in the brain", - "aplasia or hypoplasia of anatomical entity", - "abnormal neocortex morphology", - "decreased biological_process", - "Neoplasm by histology", - "abnormal shape of palpebral fissure", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "shape digit", - "Clubbing", - "Postnatal growth retardation", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "Nausea and vomiting", - "abnormal vasculature", - "abnormal genitourinary system", - "abnormal common carotid artery plus branches morphology", - "Abnormal blood vessel morphology", - "Abnormality of the vasculature", - "Abnormal vascular morphology", - "Abnormality of skull size", - "decreased size of the multicellular organism", + "External ear malformation (HPO)", + "abnormal shape of external ear", + "neural tube", + "presumptive structure", + "abnormal tube formation", + "neural tube closure", + "embryonic epithelial tube formation", + "spinal cord", + "tube development", + "system development", + "Abnormality of the spinal cord (HPO)", + "bony vertebral centrum", + "future nervous system", + "arch of centrum of vertebra", + "Vertebral arch anomaly (HPO)", + "abnormal incomplete closing of the arch of centrum of vertebra", + "neural tube formation", + "primary neural tube formation", + "Neural tube defect (HPO)", + "epithelium", + "abnormal neural tube closure", "abnormal vertebral column morphology", - "Abnormality of the inner ear", - "Abnormal systemic arterial morphology", - "abnormal systemic arterial system morphology", - "Nephroblastoma", - "Aplasia/Hypoplasia involving the central nervous system", - "Short neck", - "Mode of inheritance", - "abnormal vascular system morphology", - "Abnormal anus morphology", - "abnormal voluntary musculoskeletal movement", - "abnormally localised anatomical entity in independent continuant", - "abnormal size of liver", - "abnormal anatomical entity mass density", - "Embryonal renal neoplasm", - "Constitutional symptom", - "Absent testis", - "Abnormality of the choanae", - "Abnormal skull morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal olfactory system morphology", - "internal naris atresia", - "abnormal posterior nasal aperture morphology", - "abnormal cellular metabolic process", + "epithelial tube formation", + "nervous system development", + "morphogenesis of embryonic epithelium", + "embryo development ending in birth or egg hatching", + "embryonic tissue", + "Abnormal neural tube morphology (HPO)", + "abnormal vertebra morphology", + "anatomical structure morphogenesis", + "Spina bifida (HPO)", + "abnormal embryonic tissue morphology", + "abnormal bony vertebral centrum morphology", + "Neurodevelopmental delay (HPO)", + "Finger syndactyly (HPO)", + "Small intestinal stenosis (HPO)", + "Duodenal stenosis (HPO)", + "Abnormal duodenum morphology (HPO)", + "abnormal duodenum morphology", + "Renal insufficiency (HPO)", + "abnormality of kidney physiology", + "renal pelvis/ureter", + "Abnormal ureter morphology (HPO)", + "abnormal ureter", "abnormal ureter morphology", - "abnormal nose", - "abnormally decreased number of myeloid cell", - "abnormal incomplete closing of the abdominal wall", - "Urinary tract neoplasm", - "Choanal atresia", - "Hypospadias", - "posterior nasal aperture atresia", - "Hypertelorism", - "abnormal integument", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "Primary peritoneal carcinoma", - "Abnormality of movement", - "Neoplasm of the large intestine", - "Neoplasm of the gastrointestinal tract", - "Cataract", - "opaque anatomical entity", - "abnormal head", - "Pancytopenia", - "abnormal lens of camera-type eye morphology", - "Hydrocephalus", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormal reproductive system", - "abnormal central nervous system morphology", - "Visceromegaly", - "continuant", - "Abnormality of the female genitalia", - "abnormal number of anatomical enitites of type platelet", - "abnormal forelimb zeugopod morphology", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "abnormal nervous system", - "Tracheoesophageal fistula", - "decreased qualitatively biological_process in independent continuant", - "abnormally increased number of anatomical entity", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal internal genitalia", - "abnormal biological_process", - "Elevated hepatic transaminase", - "Abnormality of the male genitalia", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "abnormal enteric nervous system morphology", - "abnormal limb", - "curvature anatomical entity in independent continuant", - "abnormal limb bone morphology", - "abnormal ulna morphology", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Abnormal male reproductive system physiology", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "abnormal ear morphology", - "drooping eyelid", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "asymmetrically curved cornea", - "Morphological central nervous system abnormality", - "Recurrent infections", - "Hepatomegaly", - "Abnormal cornea morphology", - "abnormal secondary palate morphology", - "abnormal anatomical entity, asymmetrically curved", - "abnormal multicellular organismal reproductive process", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "abnormal liver morphology", - "abnormal organelle organization", - "Hypermelanotic macule", - "Abnormal eye physiology", - "asymmetrically curved anatomical entity", - "abnormal systemic artery morphology", - "abnormal hindlimb joint", - "Abnormal anterior eye segment morphology", - "Displacement of the urethral meatus", - "abnormal face", - "abnormal asymmetry of anatomical entity", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", - "Ventricular septal defect", - "abnormal response to stimulus", - "Abnormal forearm bone morphology", - "abnormal voluntary movement behavior", - "abnormal respiratory tube morphology", - "Neoplasm of the pancreas", - "anatomical entity hyperplasia", - "abnormal cervical vertebra", - "abnormal cornea, curved", - "abnormal leukocyte morphology", - "abnormal renal system", - "abnormally fused anatomical entity and manual digit", - "abnormal ocular adnexa", - "Abnormality of vision", - "increased size of the anatomical entity in independent continuant", - "Non-obstructive azoospermia", - "curved anatomical entity in independent continuant", - "Anemia of inadequate production", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal nervous system morphology", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "Abnormal peripheral nervous system morphology", - "Pulmonic stenosis", - "Upper limb undergrowth", - "Abnormal renal morphology", - "abnormal internal naris", - "abnormal arm", - "Abnormality of limb bone", - "Abnormal eye morphology", - "abnormal connective tissue", - "abnormal autopod region morphology", - "abnormal ear", - "Abnormal aortic valve morphology", - "Abnormality of the orbital region", - "Hyperpigmentation of the skin", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal nerve", - "Abnormal preputium morphology", + "ureter", + "Decreased fertility in males (HPO)", + "Decreased fertility (HPO)", + "Ovarian carcinoma (HPO)", + "increased qualitatively response to stimulus", + "Hyperreflexia (HPO)", + "reflex", + "abnormal response to external stimulus", + "abnormally localised anatomical entity", + "Cryptorchidism (HPO)", "abnormally localised testis", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "Genital neoplasm", - "Abnormal eyelid morphology", - "increased pigmentation in skin of body", - "abnormal aorta morphology", - "abnormal hematopoietic system", - "phenotype by ontology source", - "abnormally decreased number of hematopoietic cell", - "abnormal ocular adnexa morphology", - "abnormal phalanx of manus morphology", - "abnormal visual perception", - "Morphological abnormality of the gastrointestinal tract", - "abnormal chemical homeostasis", - "Abnormality of the cardiovascular system", - "abnormality of gland physiology", - "Abnormal right ventricle morphology", - "Clinodactyly", - "Abnormality of the genitourinary system", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", - "Generalized abnormality of skin", - "decreased biological_process in multicellular organism", - "absent gamete", - "Abnormality of the neck", - "decreased spermatogenesis", - "abnormal artery morphology", - "Abnormality of enteric nervous system morphology", - "Abnormal forearm morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal shape of continuant", - "abnormal bone marrow cell", - "abnormal reproductive process", - "abnormal heart left ventricle morphology", - "Ventriculomegaly", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "Growth abnormality", - "abnormal female reproductive system", - "Abnormal cerebral ventricle morphology", - "shape eyelid", - "clavate digit", - "All", - "Abnormal bone structure", - "abnormal trachea morphology", - "decreased qualitatively biological_process", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "abnormally fused anatomical entity and pedal digit", - "abnormal neck morphology", - "Finger syndactyly", - "abnormal ductus arteriosus morphology", - "Abnormal bone ossification", - "abnormal anatomical entity", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal manual digit morphology in the manus", - "abnormal ileum morphology", - "Abdominal pain", - "abnormal head morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", - "curved anatomical entity", - "decreased length of long bone", - "Abnormal ear morphology", - "abnormal craniocervical region", - "Weight loss", - "abnormal cell morphology", - "Macule", - "increased size of the abdominal viscera", - "abnormal vertebral column", - "abnormal gland morphology", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "bicornuate anatomical entity", - "abnormal shape of forehead", - "abnormal palpebral fissure", - "abnormal tube formation", - "abnormality of pancreas physiology", - "Abnormal pinna morphology", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", - "abnormal skin of body", - "abnormal upper urinary tract", - "increased height of the anatomical entity", - "Limb undergrowth", - "Finger clinodactyly", - "curvature anatomical entity", - "Decreased anatomical entity mass", - "entity", - "abnormal forelimb zeugopod bone", - "Slanting of the palpebral fissure", - "Abnormality of refraction", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "abnormal camera-type eye morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "abnormal muscle contraction in independent continuant", - "abnormally decreased functionality of the anatomical entity", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal skeletal system morphology", - "Hip dislocation", - "abnormal pigmentation in independent continuant", - "phenotype", - "abnormal male reproductive system morphology", - "Anorexia", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal digestive system morphology", - "Abnormality of the biliary system", - "abnormal size of palpebral fissure", - "abnormal digestive system", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal vestibulo-ocular reflex", - "flattened anatomical entity in independent continuant", - "abnormality of cardiovascular system physiology", + "abnormally localised anatomical entity in independent continuant", + "Postnatal growth retardation (HPO)", + "Abnormality of the urinary system physiology (HPO)", + "Unusual infection (HPO)", + "abnormality of renal system physiology", + "abnormality of immune system physiology", + "Autosomal recessive inheritance (HPO)", + "hard palate", + "abnormal incomplete closing of the secondary palate", + "abnormal hard palate morphology", + "Abnormal hard palate morphology (HPO)", + "Orofacial cleft", + "Cleft palate (HPO)", + "abnormal prostate gland", + "prostate gland", + "male reproductive gland", + "Prostate cancer (HPO)", + "Prostate neoplasm (HPO)", + "abnormally decreased functionality of the gonad", + "Puberty and gonadal disorders (HPO)", + "Lymphadenopathy (HPO)", + "abnormal lymph node", + "lymph node", + "lymph node hyperplasia", + "abnormal size of lymph node", + "anatomical entity hyperplasia", + "central nervous system gray matter layer", + "pallium", + "abnormal shape of frontal cortex", + "Abnormal anterior eye segment morphology (HPO)", + "frontal cortex", + "cortex of cerebral lobe", + "cerebral cortex", + "brain", + "gray matter of forebrain", + "Recurrent urinary tract infections (HPO)", + "abnormal frontal cortex morphology", + "abnormal head morphology", + "cerebral hemisphere gray matter", + "abnormal tetrapod frontal bone morphology", + "prominent forehead", + "abnormal cerebral cortex morphology", + "cerebral hemisphere", + "Abnormal localization of kidney (HPO)", + "Abnormality of the kidney (HPO)", + "bone of pelvic complex", + "regulation of appetite", + "Abnormality of globe location (HPO)", + "response to extracellular stimulus", + "abnormal peritoneum", + "abnormal developmental process involved in reproduction", + "serous sac", + "peritoneal sac", + "Abnormality of the peritoneum (HPO)", + "abnormal ileum morphology", + "Abnormal ileum morphology (HPO)", + "Abnormal thorax morphology (HPO)", + "ganglion of peripheral nervous system", + "limb segment", + "abnormal ganglion of peripheral nervous system", + "abnormal autonomic nervous system", + "subdivision of organism along appendicular axis", + "Abnormal autonomic nervous system morphology (HPO)", + "abnormal neural tube morphology", + "head", + "outflow tract of ventricle", + "Aganglionic megacolon (HPO)", + "abnormal autonomic nervous system morphology", + "Abnormal forearm bone morphology (HPO)", + "abnormal ganglion", + "acropodial skeleton", + "skeleton of digitopodium", + "posterior region of body", + "decreased multicellular organism mass", + "autopod endochondral element", + "skeleton of pedal acropodium", + "pedal digit digitopodial skeleton", + "shape digit", + "abnormal phalanx of pes", + "phalanx endochondral element", + "glans penis", + "autopod bone", + "phalanx of pes", + "skeleton of pectoral complex", + "multicellular anatomical structure", + "phalanx", + "integumental system", + "decreased biological_process in skin of body", + "decreased pigmentation in skin of body", + "Abnormality of the eye (HPO)", + "neocortex", + "parasympathetic ganglion", + "neck bone", + "decreased pigmentation in independent continuant", + "Azoospermia (HPO)", + "Short digit (HPO)", + "thoracic segment of trunk", "aplasia or hypoplasia of manual digit 1", - "abnormally decreased number of cell", - "Abnormal mandible morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "Abnormality of digestive system morphology", - "Abnormality of the ocular adnexa", - "Autosomal recessive inheritance", - "Abnormality of the skeletal system", - "Deviation of finger", - "shape cornea", - "Abnormality of the anus", - "abnormal immune system", - "Upslanted palpebral fissure", - "Dermatological manifestations of systemic disorders", - "abnormally decreased number of cell in the independent continuant", - "hypertrophic multicellular anatomical structure", - "decreased length of anatomical entity in independent continuant", - "increased size of the anatomical entity", - "abnormal limb bone", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "Abnormal nervous system morphology", - "Abnormality of the nose", + "Scoliosis (HPO)", + "Short finger (HPO)", "abnormal brain ventricle morphology", - "abnormal platelet", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormality of camera-type eye physiology", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "abnormal exocrine gland morphology", - "abnormal ovary", - "Abnormal morphology of female internal genitalia", - "abnormal zone of skin morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal incomplete closing of the arch of centrum of vertebra", - "prominent forehead", - "abnormal internal female genitalia morphology", - "abnormal female reproductive system morphology", - "Abnormal renal physiology", - "abnormal postcranial axial skeleton morphology", - "abnormal neck", - "abnormal anatomical entity length", - "abnormal lymphatic part of lymphoid system", - "Abnormality of the palpebral fissures", - "decreased developmental process", - "Neuroblastoma", + "decreased length of manual digit", + "manual digit 1 plus metapodial segment", + "skeleton of manus", + "Short thumb (HPO)", + "manual digit 1", + "abnormal anatomical entity morphology in the manus", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "decreased length of manual digit 1", + "increased height of the anatomical entity", + "Abnormality of the hand (HPO)", + "abnormal manus", + "abnormal size of heart right ventricle", + "bone element hypoplasia in independent continuant", + "Clinodactyly of the 5th finger (HPO)", + "abnormal limb bone morphology", + "abnormal radius bone", + "abnormal manus morphology", + "Ventricular hypertrophy (HPO)", + "myeloid cell differentiation", + "manus", + "semi-lunar valve", + "segment of manus", + "manual digit 1 or 5", + "Abnormality of finger (HPO)", + "Abnormal 5th finger morphology (HPO)", + "abnormal manual digit 5 morphology", + "Abnormality of the small intestine (HPO)", + "erythrocyte differentiation", + "myeloid cell homeostasis", + "cellular developmental process", + "nerve", + "peripheral nervous system", + "developing anatomical structure", + "decreased size of the ulna", + "paralysed cranial nerve", + "Abnormality of peripheral nerves (HPO)", + "paralysed anatomical entity", + "lobe of cerebral hemisphere", + "Anorexia (HPO)", + "Abnormal cranial nerve physiology (HPO)", + "cranial neuron projection bundle", + "Abnormal cerebral ventricle morphology (HPO)", + "abnormal internal ear", + "Abnormal involuntary eye movements (HPO)", + "voluntary movement behavior", + "Abnormal vestibulo-ocular reflex (HPO)", + "Abnormal prostate morphology (HPO)", + "Vestibular dysfunction (HPO)", + "internal ear", + "Abnormality of the inner ear (HPO)", + "response to nutrient levels", + "Aplasia/Hypoplasia of the thumb (HPO)", + "reflexive behavior", + "Abnormality of movement (HPO)", + "abnormal enteric nervous system morphology", + "Recurrent infections (HPO)", + "involuntary movement behavior", + "abnormal forelimb zeugopod", + "abnormal ear morphology", + "Abnormal liver morphology (HPO)", + "Abnormal platelet count (HPO)", + "Abnormal ear morphology (HPO)", + "polyatomic entity", + "increased biological_process in independent continuant", + "abnormality of internal ear physiology", + "Hematological neoplasm (HPO)", + "neuromuscular process", + "abnormal iris morphology", + "digit 1 or 5", + "musculoskeletal movement", + "abnormal musculoskeletal movement", + "multicellular organismal movement", + "Non-obstructive azoospermia (HPO)", + "abnormal voluntary movement behavior", + "Nervous tissue neoplasm (HPO)", + "Abnormal erythroid lineage cell morphology (HPO)", + "pulmonary valve", + "Abnormality of bone marrow cell morphology (HPO)", + "decreased size of the anatomical entity", + "oxygen accumulating cell", + "postcranial axial skeleton", + "bone marrow cell", + "Abnormality of toe (HPO)", + "decreased height of the multicellular organism", + "mixed endoderm/mesoderm-derived structure", + "decreased size of the multicellular organism", + "decreased height of the anatomical entity", + "decreased qualitatively biological_process", + "abnormality of multicellular organism height", + "Abnormal breast morphology (HPO)", + "anatomical structure formation involved in morphogenesis", + "Breast carcinoma (HPO)", + "Neoplasm of the breast (HPO)", + "Abnormality of the breast (HPO)", + "Abnormal renal physiology (HPO)", + "abnormal chest", + "developmental process involved in reproduction", + "hindlimb stylopod", + "skeleton of pes", + "large intestine", + "Neoplasm of the colon (HPO)", + "smooth muscle contraction", + "abnormal muscle contraction in independent continuant", "changed muscle contraction rate", - "Abnormal thorax morphology", - "Abnormality of male external genitalia", - "abnormal forehead", - "absent anatomical entity in the semen", - "abnormal anatomical entity morphology", - "Abnormal reflex", + "abnormal intestine morphology", + "lateral structure", + "abnormal abdominal wall", + "Abnormal gastrointestinal motility (HPO)", + "abnormal arch of centrum of vertebra", + "Gastrointestinal dysmotility (HPO)", + "Thrombocytopenia (HPO)", + "abnormal cardial valve morphology in the heart", + "Patent ductus arteriosus (HPO)", + "Abnormal intestine morphology (HPO)", + "decreased muscle contraction", + "Neuroblastoma (HPO)", + "system process", + "chest", + "Neuroblastic tumor (HPO)", + "Primitive neuroectodermal tumor (HPO)", + "pathological phenotype observation", + "shape eyelid", + "Abnormal aortic valve morphology (HPO)", + "Peripheral primitive neuroectodermal neoplasm (HPO)", + "ulna hypoplasia", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "decreased length of forelimb zeugopod bone", + "aplasia or hypoplasia of ulna", + "Aplasia/Hypoplasia of the ulna (HPO)", + "Forearm undergrowth (HPO)", + "digitopodium bone", + "increased pigmentation in skin of body", + "Short forearm (HPO)", + "Abdominal pain (HPO)", + "Decreased bone element mass density", + "posterior nasal aperture", + "eye movement", + "Abnormality of bone mineral density (HPO)", "Decreased anatomical entity mass density", - "Diarrhea", - "abnormal synovial joint morphology", - "abnormal male reproductive organ morphology", - "abnormal anatomical entity, curved", - "absent sperm in the independent continuant", - "abnormal vein morphology", - "abnormal external ear morphology", - "absent anatomical entity in the multicellular organism", - "Microphthalmia", - "Decreased body weight", - "decreased qualitatively developmental process", - "increased size of the liver", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "abnormal lower urinary tract", - "decreased qualitatively pigmentation in independent continuant", - "Renal hypoplasia/aplasia", - "abnormal spleen morphology", - "Abnormal penis morphology", - "Intellectual disability", - "Neoplasm", - "Abnormal cardiac atrium morphology", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "decreased qualitatively visual perception", - "abnormal interatrial septum morphology", - "Abnormality of the face", - "abnormal jaw skeleton morphology", - "increased biological_process in skin of body", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal ventricular septum morphology", - "Abnormality of the urethra", - "abnormal brain morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of chromosome stability", - "abnormal testis morphology", - "Abnormal cellular phenotype", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal size of the palpebral fissures", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Extrahepatic cholestasis", - "deviation of anatomical entity towards the middle", - "Abnormal testis morphology", - "abnormal incomplete closing of the secondary palate", - "abnormal blood cell morphology", - "abnormal cell", - "Abnormal shape of the palpebral fissure", - "abnormal spermatogenesis", - "Clubbing of toes", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "decreased biological_process in independent continuant", + "abnormal parasympathetic ganglion morphology", + "decreased length of palpebral fissure", + "Short palpebral fissure (HPO)", + "membrane bone", + "abnormal size of palpebral fissure", + "carbohydrate homeostasis", + "Abnormal internal genitalia (HPO)", + "Right ventricular hypertrophy (HPO)", + "homeostatic process", + "anatomical conduit", + "glucose homeostasis", + "anus atresia", + "chemical homeostasis", + "Abnormal leukocyte morphology (HPO)", + "abnormal skull morphology", + "Abnormal homeostasis (HPO)", + "Anal atresia (HPO)", + "shape uterus", + "autonomic nervous system", + "abnormal size of brain ventricle", + "Bicornuate uterus (HPO)", + "Elevated hepatic transaminase (HPO)", + "uterus", + "bicornuate uterus", + "3-D shape anatomical entity in independent continuant", + "abnormal uterus", + "duodenum", + "Abnormal uvula morphology (HPO)", + "soft palate", + "Myelodysplasia (HPO)", + "Abnormal soft palate morphology (HPO)", + "lower limb segment", + "Aplasia/Hypoplasia of the uvula (HPO)", + "tube closure", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "enteric ganglion", + "cerebrospinal fluid", + "abnormal cellular component organization", + "cell differentiation", + "internal female genitalia", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "epigenetic regulation of gene expression", + "central nervous system cell part cluster", + "serous membrane", + "programmed DNA elimination by chromosome breakage", + "epithelium development", + "abnormal neck", + "pelvic girdle region", + "cellular process", + "programmed DNA elimination", + "Abnormal tracheal morphology (HPO)", + "abnormal DNA metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "anterior chamber of eyeball", + "negative regulation of cellular process", + "prepuce", + "Abnormality of the autonomic nervous system (HPO)", + "endocrine gland", + "abnormal soft palate", "abnormally formed anatomical entity", - "absent sperm", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "Pancreatic adenocarcinoma", - "Abnormality of prenatal development or birth", - "Abnormal esophagus morphology", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal closing of the anatomical entity", - "Abnormal ear physiology", - "Functional abnormality of male internal genitalia", - "abnormally fused digit and anatomical entity", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "Aplasia/Hypoplasia of the testes", - "abnormal anterior chamber of eyeball morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal 5th finger morphology", - "abnormal anterior uvea morphology", - "Abnormality of the lymphatic system", - "Abnormal external genitalia", - "abnormal reproductive system morphology", - "abnormality of nervous system physiology", - "Hematological neoplasm", - "abnormal immune system morphology", - "abnormality of male reproductive system physiology", - "Thrombocytopenia", - "Abnormality of the immune system", - "Abnormality of reproductive system physiology", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "abnormal primary metabolic process", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormality of digestive system physiology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal incomplete closing of the anatomical entity", - "Abnormal heart valve morphology", - "Hearing abnormality", - "abnormal hematopoietic system morphology", - "abnormally formed anatomical entity in independent continuant", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "Abnormal carotid artery morphology", - "Astigmatism", - "Abdominal symptom", - "abnormal alimentary part of gastrointestinal system", - "abnormal endocrine gland morphology", - "abnormal pulmonary valve morphology", - "Abnormal tracheobronchial morphology", - "Breast carcinoma", - "flat longitudinal arch of pes", - "abnormal bone of pectoral complex morphology", + "iris", + "chamber of eyeball", + "Abnormality iris morphology (HPO)", + "aplasia or hypoplasia of iris", + "abnormal glucose homeostasis", + "abnormal spinal cord", + "Diarrhea (HPO)", + "abnormal nose", + "abnormally formed anterior chamber of eyeball", + "organ", + "Aplastic anemia (HPO)", + "uvea", + "bone marrow", + "aplasia or hypoplasia of uvea", + "abnormal skin of head morphology", + "manual digitopodium bone", + "increased length of the epicanthal fold", + "abnormal palatine uvula morphology", + "zone of skin", + "Hepatosplenomegaly (HPO)", + "skin of head", + "digitopodium region", + "bicornuate anatomical entity", + "skin of eyelid", + "epicanthal fold", + "abnormal skin of face morphology", + "abnormal muscle contraction", + "Functional intestinal obstruction (HPO)", + "head or neck skin", + "neurocranium", + "male organism", + "Abnormality of calvarial morphology (HPO)", + "abnormal vault of skull", + "growth", + "Increased head circumference (HPO)", + "malformed anatomical entity", + "neurocranium bone", + "Abnormality of connective tissue (HPO)", + "Abnormal cardiovascular system physiology (HPO)", + "pelvic girdle bone/zone", + "Abnormal pinna morphology (HPO)", + "Abnormal peripheral nervous system morphology (HPO)", + "pelvic girdle skeleton", + "abnormal artery morphology", + "vestibulo-ocular reflex", + "Abnormal hip joint morphology (HPO)", + "individual digit of digitopodial skeleton", + "thoracic cavity blood vessel", + "Abnormal joint morphology (HPO)", + "articulation", + "tetrapod frontal bone", + "limb joint", + "Pain (HPO)", + "pelvic region element", + "hip joint", + "abnormal synovial joint", + "Chronic fatigue (HPO)", + "girdle bone/zone", + "skeletal joint", + "tube morphogenesis", + "mesoderm-derived structure", + "girdle skeleton", + "Abnormality of pelvic girdle bone morphology (HPO)", + "Lower extremity joint dislocation (HPO)", + "abnormal vascular system morphology", + "Abnormal hip bone morphology (HPO)", "abnormal developmental process", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", - "Gonadal neoplasm", - "Neurodevelopmental abnormality", - "abnormal cardiovascular system morphology", - "sloped anatomical entity", - "Abnormality of mental function", - "abnormal craniocervical region morphology", - "abnormal growth", - "Leukopenia", - "abnormal kidney", - "abnormal number of anatomical enitites of type leukocyte", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", - "abnormal heart morphology", - "aplasia or hypoplasia of radius bone", - "abnormal number of anatomical entities of type anatomical entity in blood", - "Proptosis", - "changed embryo development rate", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormality of multicellular organism mass", - "Abnormal pulmonary valve physiology", - "abnormally decreased number of anatomical entity in the blood", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "abnormal myocardium morphology", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "abnormally decreased number of leukocyte in the blood", - "Melanoma", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Abnormal neck morphology", - "abnormal peritoneum morphology", - "abnormal endocrine system morphology", - "Ptosis", - "Pes planus", + "articular system", + "orbital region", + "bone of hip region", + "protein-DNA complex organization", + "process", + "pelvic appendage skeleton", + "abnormal anus morphology", + "abnormal consumption behavior", + "upper leg bone", + "abnormal voluntary musculoskeletal movement", + "Abnormality of femur morphology (HPO)", + "hindlimb bone", + "hindlimb skeleton", + "transudate", + "prominent anatomical entity", + "Abnormal lower limb bone morphology (HPO)", + "leg bone", + "hindlimb long bone", + "abnormal femur morphology", + "Abnormal thumb morphology (HPO)", + "Abnormality of limb bone morphology (HPO)", + "Neoplasm of the liver (HPO)", + "anterior uvea", + "abnormal kidney morphology", + "visual system", + "increased anatomical entity length in independent continuant", + "secondary palate", + "roof of mouth", + "intestine", + "abnormal ocular adnexa", + "Abnormality of forebrain morphology (HPO)", + "regulation of macromolecule biosynthetic process", + "anatomical space", + "digit 1", + "upper jaw region", + "increased height of the secondary palate", + "abnormal secondary palate morphology", + "zone of organ", + "Malignant neoplasm of the central nervous system (HPO)", + "connective tissue", + "ossification", + "Abnormality of the abdominal wall (HPO)", + "abnormal incomplete closing of the abdominal wall", + "decreased embryo development", + "abnormal development of anatomical entity", + "immune system process", + "Intrauterine growth retardation (HPO)", + "tube formation", + "anatomical structure development", + "Aplasia/hypoplasia of the extremities (HPO)", + "Frontal bossing (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "abnormal ductus arteriosus morphology", + "dentary", + "Abnormality of the radius (HPO)", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "abnormal testis morphology", + "abnormal breast morphology", + "Abnormal cellular physiology (HPO)", + "Abnormality of the cervical spine (HPO)", + "radius bone", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "vertebral column", + "upper limb segment", + "fallopian tube", + "abnormality of alimentary part of gastrointestinal system physiology", + "excretory tube", "decreased qualitatively sensory perception of mechanical stimulus", - "Mendelian inheritance", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "abnormally fused anatomical entity and anatomical entity", - "abnormal hemopoietic organ morphology", - "Abnormal consumption behavior", - "Abnormal male internal genitalia morphology", - "abnormally fused digit and digit", - "Arteriovenous malformation", - "Umbilical hernia", - "Clinodactyly of the 5th finger", - "Abnormal digit morphology", - "abnormally fused pedal digit and pedal digit", - "abnormal location of anatomical entity", - "abnormally fused pedal digit and anatomical entity", - "abnormal tetrapod frontal bone morphology", - "abnormality of internal ear physiology", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", - "abnormal size of multicellular organism", - "Renal insufficiency", - "increased length of the epicanthal fold", - "Peritoneal abscess", - "Cleft palate", - "abnormal pedal digit morphology", - "abnormal phenotype by ontology source", - "abnormal bone marrow cell morphology", - "Glucose intolerance", - "abnormal digit morphology", - "Abnormal conjugate eye movement", - "abnormal cardiac ventricle morphology", - "anatomical entity hypoplasia", - "Abnormal uvula morphology", - "Bicornuate uterus", + "abnormal lower urinary tract", + "subdivision of oviduct", "abnormal behavior", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal behavior process", - "Intermittent diarrhea", - "Poor appetite", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal eye movement", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal penis morphology", - "Abnormality iris morphology", - "abnormal cranium morphology", - "abnormal artery morphology in the independent continuant", - "ulna hypoplasia", - "abnormality of exocrine gland physiology", + "decreased qualitatively sensory perception of sound", + "consumption behavior", + "Hearing impairment (HPO)", + "abnormality of ear physiology", + "abnormal kidney", + "negative regulation of macromolecule biosynthetic process", + "ear", + "digit 1 plus metapodial segment", + "circulatory system", "decreased size of the mandible", - "Intestinal pseudo-obstruction", - "Abnormality of exocrine pancreas physiology", - "abnormal cardiac septum morphology", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "drooping anatomical entity", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "abnormal opening of the anatomical entity", - "Neoplasm of the liver", - "Abnormal atrial septum morphology", - "abnormal anatomical entity morphology in the heart", - "Abnormal cardiac septum morphology", - "Abnormality of the mouth", - "abnormal interventricular septum morphology", - "Overriding aorta", - "decreased muscle contraction", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "Abnormal jaw morphology", - "Meckel diverticulum", - "Ventricular hypertrophy", - "Forearm undergrowth", - "increased height of the secondary palate", - "Tetralogy of Fallot", - "Aplasia/Hypoplasia of the thumb", - "Abnormal morphology of the great vessels", - "abnormal great vessel of heart morphology", - "abnormally increased volume of anatomical entity", - "Neoplasm of the genitourinary tract", - "Abnormal ventriculoarterial connection", - "Growth delay", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "Chronic fatigue", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", - "Conotruncal defect", - "abnormal vertebra morphology", + "abnormal ear", + "Extrahepatic cholestasis (HPO)", + "abnormal soft palate morphology", + "reproductive gland", + "Cognitive impairment (HPO)", + "glandular system", + "shape forehead", + "abnormal shape of forehead", + "abnormal forehead", + "sloped forehead", + "abnormal forehead morphology", + "anatomical entity hypoplasia", + "abnormal facial skeleton morphology", + "dermal bone", + "bone of free limb or fin", + "jaw skeleton", + "Facial asymmetry (HPO)", + "facial skeleton", + "Abnormality of the ear (HPO)", "increased size of the heart right ventricle", - "Localized skin lesion", - "abnormal cardiac valve morphology", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal cerebrospinal fluid morphology", - "Abnormal cardiovascular system physiology", - "Abnormal myocardium morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "Abnormal leukocyte count", - "Facial asymmetry", - "abnormal sensory perception of sound", - "Abnormal facial shape", - "Craniofacial cleft", - "Decreased fertility", - "abnormal spatial pattern of anatomical entity", - "abnormal incomplete closing of the ductus arteriosus", - "Colon cancer", - "abnormal aortic valve morphology", - "abnormal anterior segment of eyeball morphology", + "dermal skeletal element", + "aplasia or hypoplasia of skull", + "mandible hypoplasia", + "anatomical entity hypoplasia in face", + "gastro-intestinal system smooth muscle contraction", + "bone of lower jaw", + "Medulloblastoma (HPO)", + "myocardium", + "Micrognathia (HPO)", + "abnormally increased number of anatomical entity in the independent continuant", + "pedal digit phalanx endochondral element", + "primary subdivision of skull", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Aplasia/Hypoplasia affecting the uvea (HPO)", + "chemosensory system", "aplasia or hypoplasia of skeleton", - "Abnormal facial skeleton morphology", - "bone element hypoplasia in independent continuant", - "mandible hypoplasia", - "Abnormality of skin morphology", - "Diabetes mellitus", - "abnormal mouth", - "Aplasia/Hypoplasia involving bones of the skull", + "Abnormal facial skeleton morphology (HPO)", + "abnormal ocular adnexa morphology", + "primary subdivision of cranial skeletal system", + "Pes planus (HPO)", + "dermal skeleton", + "Hypoplastic facial bones (HPO)", + "anatomical cluster", + "dermatocranium", + "Anemia of inadequate production (HPO)", + "jaw region", "facial bone hypoplasia", - "aplasia or hypoplasia of skull", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal large intestine morphology", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "Gastrointestinal obstruction", - "clavate anatomical entity", + "postcranial axial skeletal system", + "abnormal size of multicellular organism", + "abnormal mouth morphology", + "decreased biological_process in independent continuant", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "abnormal blood vessel morphology", + "Abnormal mandible morphology (HPO)", + "Abnormality of thumb phalanx (HPO)", "aplasia or hypoplasia of mandible", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormal heart morphology", - "abnormally localised anatomical entity", - "shape forehead", - "herniated abdominal wall", - "sloped forehead", - "Short forearm", - "abnormal manual digit 5 morphology", - "Sloping forehead", - "abnormality of ear physiology", + "aplasia or hypoplasia of radius bone", + "outflow part of left ventricle", + "abnormality of cranial nerve physiology", + "abnormal aortic valve morphology", + "outflow tract", + "conceptus", + "abnormal systemic artery morphology", + "Abnormality of enteric nervous system morphology (HPO)", + "vasculature of organ", + "vasculature of trunk", + "thoracic cavity element", + "heart blood vessel", + "thoracic segment blood vessel", + "renal system", + "abnormal artery morphology in the independent continuant", + "embryonic cardiovascular system", + "trunk blood vessel", + "male gamete generation", "decreased sensory perception of sound", - "abnormality of alimentary part of gastrointestinal system physiology", - "Functional intestinal obstruction", - "Functional abnormality of the gastrointestinal tract", - "Recurrent urinary tract infections", - "abnormal response to external stimulus", - "abnormal fallopian tube morphology", - "abnormal manual digit 1 morphology", - "Abnormal fallopian tube morphology", - "Syndactyly", + "Decreased head circumference (HPO)", + "abnormal asymmetry of anatomical entity", + "vault of skull", + "neural tube development", + "abnormal spatial pattern of anatomical entity", + "cardiovascular system", + "abnormal face morphology", + "anatomical entity dysfunction in independent continuant", + "Short long bone (HPO)", + "abnormal myocardium morphology", + "Abnormal myocardium morphology (HPO)", "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "abnormal late embryo", - "Deviation of the hand or of fingers of the hand", - "Aplasia/hypoplasia involving forearm bones", - "abnormal development of anatomical entity", - "aplasia or hypoplasia of ulna", - "Abnormal thumb morphology", - "abnormal cornea morphology", - "Intrauterine growth retardation", - "Neuroblastic tumor", - "abnormal breast", + "abnormally decreased functionality of the anatomical entity", + "Melanoma (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "midface", + "Gastrointestinal obstruction (HPO)", + "Abnormal heart valve morphology (HPO)", "abnormal embryo development", - "decreased embryo development", - "Hernia of the abdominal wall", - "Abnormal cell morphology", - "Abnormality of digestive system physiology", - "Abnormal palate morphology", - "Abnormality of connective tissue", - "Abnormality of the cervical spine", - "Abnormal umbilicus morphology", - "abnormal abdominal wall", - "Hernia", - "Abnormality of the abdominal wall", - "Medulloblastoma", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Neoplasm of the central nervous system", - "Abnormal intestine morphology", - "Malignant neoplasm of the central nervous system", - "Abnormal midface morphology", + "abnormal cardial valve morphology in the independent continuant", + "Abnormal heart valve physiology (HPO)", + "interventricular septum", + "increased size of the anatomical entity in independent continuant", + "tracheobronchial tree", + "zone of bone organ", + "Abdominal wall defect (HPO)", + "abnormal uterus morphology", + "lower jaw region", + "Hypoplasia of the ulna (HPO)", + "valve", + "aortic system", + "abnormal aorta morphology", + "cardiac ventricle", + "hypertrophic heart right ventricle", + "Abnormal cardiac ventricle morphology (HPO)", + "sensory perception of light stimulus", + "Abnormality of the uterus (HPO)", + "Abnormal pulmonary valve physiology (HPO)", + "abnormal incomplete closing of the interventricular septum", + "Abnormal morphology of the great vessels (HPO)", + "Overriding aorta (HPO)", + "manual digit 5", + "Abnormality of long bone morphology (HPO)", + "aorta", + "abnormally increased volume of anatomical entity", + "Tetralogy of Fallot (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "abnormal pulmonary valve morphology", + "Congenital malformation of the great arteries (HPO)", + "Abnormal aortic morphology (HPO)", + "abnormal zone of skin morphology", + "abnormal cardiac ventricle morphology in the heart", + "limb long bone", + "Colon cancer (HPO)", + "Pulmonic stenosis (HPO)", + "multicellular organism", + "negative regulation of cellular biosynthetic process", + "right cardiac chamber", + "great vessel of heart", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal cardiac atrium morphology in the independent continuant", + "prepuce of penis", + "non-connected functional system", + "Abnormal cardiac atrium morphology (HPO)", + "interatrial septum", + "abnormal heart morphology", + "autopodial skeleton", + "septum", + "Hypertelorism (HPO)", + "abnormal cornea, asymmetrically curved", + "Atrial septal defect (HPO)", + "Abnormal atrial septum morphology (HPO)", + "cellular component organization or biogenesis", + "abnormal cardiac atrium morphology", + "heart plus pericardium", + "cardiac septum", + "abnormal cardiac septum morphology", + "male accessory sex gland", + "abnormal pelvic girdle bone/zone morphology", + "abnormal interatrial septum morphology", + "decreased length of long bone", + "shape palpebral fissure", + "abnormality of exocrine pancreas physiology", + "Neuroepithelial neoplasm (HPO)", + "abnormality of pancreas physiology", + "Generalized abnormality of skin (HPO)", + "Abnormality of pancreas physiology (HPO)", + "regulation of biological quality", + "Abnormal morphology of ulna (HPO)", + "abnormality of gland physiology", + "intramembranous bone", + "heart layer", + "abnormality of exocrine gland physiology", + "anterior region of body", + "Abnormal uterus morphology (HPO)", + "Abnormality of exocrine pancreas physiology (HPO)", + "Exocrine pancreatic insufficiency (HPO)", + "serous gland", + "abnormal cellular metabolic process", + "Abnormal palate morphology (HPO)", + "enteric nervous system", + "body part movement", + "protein", + "Abnormality of eye movement (HPO)", + "decreased qualitatively pigmentation in independent continuant", + "Hypopigmented skin patches (HPO)", + "Behavioral abnormality (HPO)", + "morphological feature", + "Nausea and vomiting (HPO)", + "abnormal response to stimulus", + "Abnormal vertebral morphology (HPO)", + "abnormal shape of continuant", + "multi cell part structure", + "behavior process", + "Abnormality of the immune system (HPO)", + "abnormal eye movement", + "decreased qualitatively biological_process in independent continuant", + "constricted pulmonary valve", + "abnormal behavior process", + "Functional abnormality of the inner ear (HPO)", + "Strabismus (HPO)", + "abnormal pedal digit", + "facial bone", + "abnormal digit", + "segment of pes", + "amino acid chain", + "pectoral complex", + "segment of autopod", + "regulation of biological process", + "aplasia or hypoplasia of eyeball of camera-type eye", + "digit", + "negative regulation of gene expression", + "abnormally fused digit and anatomical entity", + "abnormally fused pedal digit and pedal digit", + "Toe syndactyly (HPO)", + "Abnormal size of the palpebral fissures (HPO)", + "Upper limb undergrowth (HPO)", + "digit plus metapodial segment", + "embryo development", + "shape longitudinal arch of pes", + "flattened anatomical entity", + "layer of muscle tissue", + "pedal digitopodium region", + "longitudinal arch of pes", + "flat anatomical entity in independent continuant", + "hindlimb", + "pelvic complex", + "tissue morphogenesis", + "Clinodactyly (HPO)", + "pedal digit bone", + "abnormal pes morphology", + "Leukopenia (HPO)", + "decreased size of the anatomical entity in the pectoral complex", + "leg", + "synovial joint of pelvic girdle", + "pes", + "decreased gastro-intestinal system smooth muscle contraction", + "Abnormality of the mouth (HPO)", + "pancreas", + "Deviation of the 5th finger (HPO)", + "abnormal craniocervical region", + "regulation of macromolecule metabolic process", + "anatomical entity", + "abnormal exocrine gland morphology", + "abnormal pancreas", + "digestive system gland", + "Abnormal external genitalia (HPO)", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "Neoplasm of the pancreas (HPO)", + "femur endochondral element", + "Abnormality of digestive system physiology (HPO)", + "Pancreatic adenocarcinoma (HPO)", + "Abnormality of the pancreas (HPO)", + "Proptosis (HPO)", + "ecto-epithelium", + "increased length of the anatomical line between pupils", + "abnormal visual perception", + "visual perception", + "abnormal abdomen morphology", + "cranial bone", + "exocrine gland", + "abnormal sensory perception of light stimulus", + "mouth", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Microphthalmia (HPO)", + "internal naris atresia", + "drooping eyelid", + "abdominal viscera", + "myeloid cell", + "blood cell", + "abdominal wall", + "changed embryo development rate", + "external genitalia", + "biogenic amine secreting cell", + "Abnormal umbilicus morphology (HPO)", + "anatomical wall", + "Abnormality of thrombocytes (HPO)", + "delayed growth", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "hypothalamus-pituitary axis", + "Abnormality of the female genitalia (HPO)", + "abnormal hypothalamus-pituitary axis", + "abnormal sensory perception of sound", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "hindlimb joint", + "bone element", + "cavitated compound organ", + "joint of girdle", + "abnormal late embryo", + "amniotic fluid", + "abnormal organelle organization", + "synovial joint", + "coronary vessel", + "morphogenesis of an epithelium", + "abnormal anatomical entity, asymmetrically curved", + "forelimb skeleton", + "main group molecular entity", + "Abnormal anterior chamber morphology (HPO)", + "Abnormality of body height (HPO)", + "regulation of cellular process", + "organonitrogen compound", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "metabolic process", + "Neurodevelopmental abnormality (HPO)", + "organic amino compound", + "heteroorganic entity", + "Choanal atresia (HPO)", + "information biomacromolecule", + "nitrogen molecular entity", + "molecular entity", + "macromolecule", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", + "abnormal location of eyeball of camera-type eye", + "curvature anatomical entity in independent continuant", + "chemical entity", + "immaterial entity", + "Fatigue (HPO)", + "non-material anatomical boundary", "abnormal oral cavity morphology", - "abnormal heart right ventricle morphology", + "abnormal location of anatomical entity", + "male germ cell", + "anatomical line", + "abnormally fused manual digit and anatomical entity", + "pes bone", + "head bone", + "urethral meatus", + "abnormal respiratory system morphology", + "male urethra", + "erythrocyte homeostasis", + "camera-type eye", + "urethral opening", + "Displacement of the urethral meatus (HPO)", + "Hearing abnormality (HPO)", + "abnormal sensory perception", + "abnormal urethra", + "Deviation of the hand or of fingers of the hand (HPO)", + "Nystagmus (HPO)", + "Abdominal symptom (HPO)", + "Abnormality of the urinary system (HPO)", + "Neoplasm of the large intestine (HPO)", + "Abnormality of the midface (HPO)", + "Intermittent diarrhea (HPO)", + "protein-containing complex organization", + "abnormal closing of the anatomical entity", + "Embryonal neoplasm (HPO)", + "Abnormal ear physiology (HPO)", + "Poor appetite (HPO)", + "Embryonal renal neoplasm (HPO)", + "abnormal upper urinary tract", + "abnormal hematopoietic system", + "aplasia or hypoplasia of palatine uvula", + "constricted duodenum", + "abnormally fused anatomical entity and anatomical entity", + "Abnormal cellular immune system morphology (HPO)", + "Abnormality of the lower urinary tract (HPO)", + "Renal neoplasm (HPO)", + "abnormal renal system", + "Abnormality of the curvature of the vertebral column (HPO)", + "multicellular organismal reproductive process", + "immune organ", + "Abnormality of brain morphology (HPO)", + "lymphoid system", + "abnormal size of liver", + "abnormal internal genitalia", + "Abnormal spleen morphology (HPO)", + "increased size of the anatomical entity", + "Almond-shaped palpebral fissure (HPO)", + "Abnormality of the curvature of the cornea (HPO)", + "ovary", + "spleen", + "Ocular anterior segment dysgenesis (HPO)", + "abnormal spleen morphology", + "abnormal endocrine gland morphology", + "Abnormality of cardiovascular system morphology (HPO)", + "increased size of the viscus", + "dorsal region element", + "abnormal spleen", + "abnormal lymphatic part of lymphoid system", + "chromatin remodeling", "abnormality of anatomical entity height", - "abnormal midface morphology", - "increased height of anatomical entity in independent continuant", - "High palate", - "abnormal renal system morphology", - "abnormal kidney morphology", - "abnormal hindlimb stylopod morphology", + "abnormal genitourinary system", + "Renal hypoplasia/aplasia (HPO)", + "forehead", + "Splenomegaly (HPO)", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "Abnormality of the anus (HPO)", + "increased size of the lymph node", + "Anorectal anomaly (HPO)", + "abnormal interventricular septum morphology", + "abnormal anatomical entity morphology in the heart", + "Abnormal fallopian tube morphology (HPO)", + "shape anatomical entity in independent continuant", + "Urinary tract neoplasm (HPO)", + "penis", + "Abnormal preputium morphology (HPO)", + "Abnormal penis morphology (HPO)", + "external soft tissue zone", + "abnormal endocrine system", + "abnormal prepuce of penis morphology", + "abnormal penis", + "excretory system", + "abnormal skeletal joint morphology", + "Arteriovenous malformation (HPO)", + "organ component layer", + "abnormal vein morphology", + "Spinal dysraphism (HPO)", + "Neoplasm of the nervous system (HPO)", + "abnormal integument", + "forelimb", + "Abnormal morphology of female internal genitalia (HPO)", + "zeugopod", + "abnormally fused manual digit and manual digit", + "limb endochondral element", + "Abnormality of the gastrointestinal tract (HPO)", + "abnormal limb", + "abnormal arm", + "Hypospadias (HPO)", + "Abnormality of the amniotic fluid (HPO)", + "Morphological central nervous system abnormality (HPO)", + "Umbilical hernia (HPO)", + "abnormal cardiac ventricle morphology", + "abnormal pigmentation", + "glans", + "paired limb/fin skeleton", + "abnormal long bone morphology", + "abnormal phenotype by ontology source", + "abnormal heart right ventricle morphology", + "Abnormality of forearm bone (HPO)", + "abnormal anatomical entity topology in independent continuant", + "heart vasculature", + "arm", + "female reproductive organ", + "skeleton of lower jaw", + "bone of appendage girdle complex", + "motile cell", + "skeleton of limb", + "Abnormal oral morphology (HPO)", + "Abnormality of the ureter (HPO)", + "forelimb zeugopod skeleton", + "cranium", + "Syndactyly (HPO)", + "pectoral appendage skeleton", + "nervous system", + "appendicular skeletal system", + "multi-limb segment region", + "Abnormality of limb bone (HPO)", + "abnormal ulna", + "abnormal breast", + "brain gray matter", + "Tracheoesophageal fistula (HPO)", + "response to stimulus", + "continuant", + "femur", + "forelimb endochondral element", + "abnormal forelimb zeugopod bone morphology", + "internal genitalia", + "forelimb bone", + "Recurrent maladaptive behavior", + "changed developmental process rate", + "abnormally increased number of brain ventricle in the independent continuant", + "Abnormality of lower limb joint (HPO)", + "abnormal biliary system", + "ulna endochondral element", + "biomacromolecule", + "appendage girdle region", + "Deviation of finger (HPO)", + "Abnormal reflex (HPO)", + "muscle contraction", + "appendicular skeleton", + "Abnormality of the outer ear (HPO)", + "limb skeleton subdivision", + "abnormal reproductive system", + "Hyperpigmentation of the skin (HPO)", + "exocrine pancreas", + "urethra", + "paired limb/fin segment", + "Abnormal upper limb bone morphology (HPO)", + "abnormal great vessel of heart morphology", + "abnormal appendicular skeleton morphology", + "increased biological_process", + "arm bone", + "abnormal hindlimb joint", + "Abnormal abdomen morphology (HPO)", + "forelimb long bone", + "abnormal limb long bone morphology", + "Abnormal skull morphology (HPO)", + "cellular component organization", + "decreased size of the eyeball of camera-type eye", + "Constitutional symptom (HPO)", + "Dolichocephaly (HPO)", + "appendage girdle complex", + "organism subdivision", + "abnormal incomplete closing of the anatomical entity", + "Abnormality of the neck (HPO)", + "abnormal internal female genitalia morphology", + "embryo", + "pectoral appendage", + "pedal digit", + "trunk", + "Abnormality of the ulna (HPO)", + "animal cell", + "Sideroblastic anemia (HPO)", + "body proper", + "Abnormality of the digestive system (HPO)", + "Abnormal large intestine morphology (HPO)", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal limb bone", + "increased qualitatively biological_process in independent continuant", + "increased pigmentation in independent continuant", + "pigmentation", + "proximo-distal subdivision of respiratory tract", + "abnormal anus", + "abnormal forebrain morphology", + "cell", + "Macule (HPO)", + "Glucose intolerance (HPO)", + "abnormally fused anatomical entity and manual digit", + "abnormally formed anatomical entity in independent continuant", + "Abnormality of the nose (HPO)", + "pnictogen molecular entity", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "Abnormality of ganglion (HPO)", + "breast", + "germ line cell", + "Abnormal bone structure (HPO)", + "abnormality of internal male genitalia physiology", + "abnormal size of spleen", + "Conotruncal defect (HPO)", + "abnormal brain ventricle/choroid plexus morphology", + "vertebral centrum element", + "Irregular hyperpigmentation (HPO)", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Localized skin lesion (HPO)", + "abdomen", + "nervous system process", + "exocrine system", + "integument", + "cellular organisms", + "autopod region", + "biliary system", + "chordate embryonic development", + "anucleate cell", + "voluntary musculoskeletal movement", + "Visual impairment (HPO)", + "sensory perception", + "Astigmatism (HPO)", + "circulatory organ", + "increased size of the spleen", + "Abnormality of male internal genitalia (HPO)", + "abnormality of male reproductive system physiology", + "face", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "Finger clinodactyly (HPO)", + "anatomical entity hypoplasia in independent continuant", + "regional part of nervous system", + "kinesthetic behavior", + "abnormally fused pedal digit and anatomical entity", + "flattened anatomical entity in independent continuant", + "abnormal male reproductive organ morphology", + "blood vessel", + "manual digit 1 phalanx", + "hepatobiliary system", + "cervical region", + "blood vasculature", + "Abnormality of the skin (HPO)", + "Abnormality of the endocrine system (HPO)", + "liver", + "epithelial tube", + "increased reflex", + "Abnormal digit morphology (HPO)", + "Abnormality of the genital system (HPO)", + "feces", + "Abnormality of the lower limb (HPO)", + "erythrocyte", + "increased length of the anatomical entity", + "telencephalon", + "Pancytopenia (HPO)", + "abnormal fallopian tube morphology", + "Abnormality of prenatal development or birth (HPO)", + "Opisthokonta", + "abnormal telencephalon morphology", + "abnormal forelimb zeugopod bone", + "abnormal cellular process", + "hindlimb endochondral element", + "p-block molecular entity", + "Dermatological manifestations of systemic disorders (HPO)", + "Eumetazoa", + "decreased qualitatively visual perception", + "organism", + "Microcephaly (HPO)", + "frontal lobe", + "pedal digit plus metapodial segment", + "ventricle of nervous system", + "abnormal biological_process in independent continuant", + "lower respiratory tract", + "upper digestive tract", + "shape cornea", + "forebrain", + "Eukaryota", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal multicellular organismal reproductive process", + "root", + "Abnormal ventriculoarterial connection (HPO)", + "manual digit bone", + "Abnormal eye physiology (HPO)", + "Abnormal shape of the palpebral fissure (HPO)", + "abnormal shape of palpebral fissure", + "abnormal internal naris", + "vessel", + "vasculature", + "Abnormal systemic arterial morphology (HPO)", + "abnormal systemic arterial system morphology", + "Abnormality of the cardiovascular system (HPO)", + "Intellectual disability (HPO)", + "Abnormal blood vessel morphology (HPO)", + "Abnormality of the vasculature (HPO)", + "digit 5 plus metapodial segment", + "Abnormality of metabolism/homeostasis (HPO)", + "Chromosome breakage (HPO)", + "abnormal common carotid artery plus branches morphology", + "Abnormal platelet morphology (HPO)", + "anatomical projection", + "systemic arterial system", + "upper eyelid", + "Hepatomegaly (HPO)", + "Epicanthus (HPO)", + "negative regulation of biological process", + "abnormal cardiovascular system morphology", + "common carotid artery plus branches", + "abnormal head bone morphology", + "abnormal leg", + "nerve of head region", + "Abnormal myeloid cell morphology (HPO)", + "abnormal vasculature", + "abnormal cardiovascular system", + "abnormality of nervous system physiology", + "abnormal liver morphology", + "left cardiac chamber", + "Abnormality of enteric ganglion morphology (HPO)", + "trunk region element", + "external ear", + "ulna", + "abnormal amniotic fluid", + "Abnormal cerebral morphology (HPO)", + "vein", + "abnormal incomplete closing of the interatrial septum", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "hypertrophic cardiac ventricle", + "abnormal immune system", + "oviduct", + "Abnormal eye morphology (HPO)", + "anatomical entity atresia", + "Diabetes mellitus (HPO)", + "abnormal asymmetry of face", + "internal naris", "abnormal physiologic nystagmus", - "abnormal femur morphology", - "Abnormality of femur morphology", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "skeletal joint dislocation", - "abnormal pelvic girdle bone/zone morphology", - "Increased head circumference", - "Abnormal hip bone morphology", - "Lower extremity joint dislocation", - "Abnormal joint morphology", - "Abnormal cerebral morphology", - "Joint dislocation", - "Micrognathia", - "anatomical entity dislocation", - "abnormal synovial joint of pelvic girdle morphology", - "abnormal hip joint morphology", - "abnormal vault of skull", - "Abnormality of the ovary", - "Abnormal aortic morphology", - "Abscess", + "skeleton of pelvic complex", + "respiratory airway", + "abnormal internal male genitalia", + "kidney", + "heart right ventricle", + "posterior nasal aperture atresia", + "epithelial tube morphogenesis", + "abnormal bone of pectoral complex morphology", + "arterial system", + "Abnormal foot morphology (HPO)", + "orifice of skull", + "phenotype by ontology source", + "Weight loss (HPO)", + "olfactory organ", + "long bone", + "Abnormal neck morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Male reproductive system neoplasm (HPO)", + "abnormal posterior nasal aperture morphology", + "Back pain (HPO)", + "Abnormal bone ossification (HPO)", + "Abnormality of the urethra (HPO)", + "nose", + "endocrine system", + "skull", + "Abnormality of the choanae (HPO)", + "peritoneum", + "gonad", + "abnormal lens of camera-type eye", + "Primary peritoneal carcinoma (HPO)", + "abnormal digestive system", + "Abnormal male urethral meatus morphology (HPO)", + "Abnormality of digestive system morphology (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "negative regulation of macromolecule metabolic process", + "abnormally fused anatomical entity and digit", + "digestive system element", + "trunk or cervical vertebra", + "Abnormal enzyme/coenzyme activity (HPO)", "abnormal external genitalia", - "abnormal size of head", - "increased size of the head", + "Visceromegaly (HPO)", + "Growth abnormality (HPO)", + "Decreased body weight (HPO)", + "craniocervical region", + "abnormal connective tissue", + "aortic valve", + "abnormal eyeball of camera-type eye", + "abnormal hip joint morphology", + "testis", + "Peritoneal abscess (HPO)", + "Abnormal appendicular skeleton morphology (HPO)", + "pedal digitopodium bone", + "brain ventricle/choroid plexus", + "abnormal small intestine", + "abnormal vestibulo-ocular reflex", + "anatomical cavity", + "Abnormality of corneal shape (HPO)", + "Decreased anatomical entity mass", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "independent continuant", + "Meckel diverticulum (HPO)", + "pelvic region of trunk", + "Ptosis (HPO)", + "increased biological_process in skin of body", + "respiratory system", + "abnormal growth", + "abnormality of multicellular organism mass", + "eukaryotic cell", + "organ system subdivision", + "Cataract (HPO)", + "Hypogonadism (HPO)", + "Abnormal immune system morphology (HPO)", + "abnormal umbilicus morphology", + "increased pigmentation", + "structure with developmental contribution from neural crest", + "male urethral meatus", + "clavate anatomical entity", + "leukocyte", + "Clubbing of toes (HPO)", + "blood", + "small intestine", + "secretory cell", + "autopodial extension", + "eyelid", + "embryonic morphogenesis", + "subdivision of organism along main body axis", + "Abnormality of vision (HPO)", + "eye", + "tissue", + "Abnormality of mental function", + "abnormal trachea morphology", + "Abnormality of the cerebrospinal fluid (HPO)", + "digit 5", + "Abnormal enzyme concentration or activity", + "hemopoiesis", + "Metazoa", + "multicellular organism reproduction", + "abnormal tracheobronchial tree morphology", + "subdivision of tube", + "manual digitopodium region", + "abnormal bone element mass density", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "skin of body", + "entire sense organ system", + "Abnormality of the phalanges of the toes (HPO)", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "male reproductive organ", + "multi-tissue structure", + "Cranial nerve paralysis (HPO)", + "simple eye", + "abnormal biological_process", + "abnormal alimentary part of gastrointestinal system", + "neural crest-derived structure", + "Abnormality of the abdominal organs (HPO)", + "arterial blood vessel", + "viscus", + "limb bone", + "thoracic segment organ", + "venous blood vessel", + "esophagus", + "Abnormal shape of the frontal region (HPO)", + "late embryo", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal external male genitalia", + "digestive tract", + "Abnormal uvea morphology (HPO)", + "Jaundice (HPO)", + "decreased length of anatomical entity", + "Hernia of the abdominal wall (HPO)", + "quality", + "abnormal digestive system morphology", + "Global developmental delay (HPO)", + "umbilicus", + "vascular system", + "Abnormality of the vertebral column (HPO)", + "Mode of inheritance (HPO)", + "Abnormal spermatogenesis (HPO)", + "abnormal anterior segment of eyeball morphology", + "anatomical line between pupils", + "ocular adnexa", + "skeleton of manual digitopodium", + "subdivision of digestive tract", + "endoderm-derived structure", + "Abnormality of the respiratory system (HPO)", + "forelimb zeugopod bone", + "Triphalangeal thumb (HPO)", + "asymmetrically curved anatomical entity", + "abnormal cardial valve morphology", + "Cholestasis (HPO)", + "nucleate cell", + "bone element hypoplasia in face", + "digestive system", + "abnormal ovary", + "abdominal segment element", + "radius endochondral element", + "abnormal respiratory tube morphology", + "abnormal multicellular organism morphology", + "Aplasia/Hypoplasia affecting the anterior segment of the eye (HPO)", + "Abnormality of the liver (HPO)", + "response to external stimulus", + "Abnormal respiratory system morphology (HPO)", + "material anatomical entity", + "skeleton of pedal digitopodium", + "abnormal reproductive process", + "Abnormal cerebral cortex morphology (HPO)", + "abnormal esophagus morphology", + "palpebral fissure", + "lens of camera-type eye", + "behavior", + "abnormal palpebral fissure", + "haploid cell", + "ectoderm-derived structure", + "gray matter of telencephalon", + "parasympathetic nervous system", + "increased qualitatively biological_process", + "vertebra", + "decreased biological_process in multicellular organism", + "hypertrophic multicellular anatomical structure", + "spermatogenesis", + "occurrent", + "Joint dislocation (HPO)", + "internal male genitalia", + "Abnormal testis morphology (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "negative regulation of metabolic process", + "Abnormal heart morphology (HPO)", + "abnormal gamete generation", + "Abnormal frontal bone morphology (HPO)", + "Abnormal erythrocyte morphology (HPO)", + "somatic cell", + "physiologic nystagmus", + "Intestinal pseudo-obstruction (HPO)", + "Abnormality of skin morphology (HPO)", + "gamete generation", + "abnormal enteric ganglion morphology", + "Abnormality of male external genitalia (HPO)", + "ocular surface region", + "hemopoietic organ", + "developmental process", + "Neoplasm of the central nervous system (HPO)", + "reproductive process", + "multicellular organismal process", + "abnormal opening of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of reproductive system physiology (HPO)", + "decreased length of neck", + "Absent testis (HPO)", + "abnormal semi-lunar valve morphology", + "reproductive structure", + "cognition", + "obsolete cell", + "Abnormal nervous system physiology (HPO)", + "serotonin secreting cell", + "decreased biological_process", + "Abnormal conjugate eye movement (HPO)", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "Hydrocephalus (HPO)", + "bone of pectoral complex", + "neck", + "semen", + "flat anatomical entity", + "cranial nerve related reflex", + "abnormal anatomical entity morphology in the independent continuant", + "multicellular organism development", + "abnormality of cardiovascular system physiology", + "abnormal spermatogenesis", + "increased height of anatomical entity in independent continuant", + "germ cell", + "stylopod", + "immune system", + "organ part", + "appendage", + "changed biological_process rate in independent continuant", + "gamete", + "regional part of brain", + "abnormal endocrine system morphology", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal anatomical entity mass density", + "decreased developmental process", + "Multiple cafe-au-lait spots (HPO)", + "changed biological_process rate", + "Abnormal glucose homeostasis (HPO)", + "limb", + "male gamete", + "mandible", + "zeugopodial skeleton", + "ileum", + "abnormal peripheral nervous system", + "olfactory system", + "Aplasia/Hypoplasia of the testes (HPO)", + "Abnormal ventricular septum morphology (HPO)", + "Abnormal cell morphology (HPO)", + "increased size of the abdominal viscera", + "Abnormality of the integument (HPO)", + "Short neck (HPO)", + "protein-containing material entity", + "Abnormal connection of the cardiac segments (HPO)", + "abnormal anatomical entity, curved", + "sexual reproduction", + "subdivision of skeleton", + "bone cell", + "heart", + "biological_process", + "cardiac chamber", + "abnormal anatomical entity morphology", + "cardiac valve", + "abnormal gland morphology", + "Hip dislocation (HPO)", + "decreased spermatogenesis", + "hematopoietic cell", + "cervical vertebra", + "hip", + "sensory perception of mechanical stimulus", + "organic molecular entity", + "tunica fibrosa of eyeball", + "Reduced bone mineral density (HPO)", + "cardiac atrium", + "abnormal manual digit 1 morphology", + "Neoplasm by histology (HPO)", + "homeostasis of number of cells", + "abnormal size of skull", + "Nephroblastoma (HPO)", + "abnormal hemopoietic organ morphology", + "subdivision of vertebral column", + "transparent eye structure", + "abnormal anatomical entity morphology in the brain", + "Abnormal venous morphology (HPO)", + "multi organ part structure", + "abnormal midface", + "erythroid lineage cell", + "flat bone", + "Hernia (HPO)", + "hematopoietic system", + "genitourinary system", + "endochondral element", + "Abnormality of head or neck (HPO)", + "Abnormality of the synovia (HPO)", + "abnormal lymph node morphology", + "Neoplasm by anatomical site (HPO)", + "anatomical structure", + "Sloping forehead (HPO)", + "abnormal nervous system morphology", + "abnormal female reproductive system", + "Genital neoplasm (HPO)", + "abnormality of reproductive system physiology", + "abnormal reproductive system morphology", + "Gonadal neoplasm (HPO)", + "abnormal cornea, curved", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of the lymph nodes (HPO)", + "organism substance", + "reproductive organ", + "Abnormality of globe size (HPO)", + "Abnormal eyelid morphology (HPO)", + "Neoplasm (HPO)", + "cranial nerve", + "abnormality of camera-type eye physiology", + "abnormal uvea morphology", "abnormal skeletal system", - "Abnormal calvaria morphology", - "Dolichocephaly", - "abnormal neural tube closure", - "abnormal skin of head morphology", - "abnormal long bone morphology", - "Ovarian carcinoma", - "abnormal skin of face morphology", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "abnormal chromatin organization", - "abnormal nitrogen compound metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal roof of mouth morphology", - "prominent anatomical entity", - "Chromosome breakage", + "Abnormal nervous system morphology (HPO)", + "forelimb zeugopod bone hypoplasia", + "Growth delay (HPO)", + "acropodium region", + "ventricular system of central nervous system", + "dorsum", + "tissue development", + "central nervous system", + "immaterial anatomical entity", + "Abnormal reproductive system morphology (HPO)", + "haemolymphatic fluid", + "musculature of body", + "native cell", + "ventricular system of brain", + "axial skeleton plus cranial skeleton", + "palatine uvula", + "disconnected anatomical group", + "intromittent organ", + "brain ventricle", + "Abnormality of the head (HPO)", + "hemolymphoid system", + "alimentary part of gastrointestinal system", + "system", + "Abnormality of skull size (HPO)", + "external male genitalia", + "abnormal shape of cornea", + "abnormal anatomical entity morphology in the pectoral complex", + "High palate (HPO)", + "abnormal cornea morphology", + "bodily fluid", + "Abnormal right ventricle morphology (HPO)", + "Abnormal leukocyte count (HPO)", + "Abnormality of the calvaria (HPO)", + "Abnormal pulmonary valve morphology (HPO)", + "respiratory tract", + "Abnormality of immune system physiology (HPO)", + "gray matter", + "Abnormal consumption behavior (HPO)", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "Abnormal form of the vertebral bodies (HPO)", + "aplasia or hypoplasia of telencephalon", "abnormal metabolic process", - "Lymphadenopathy", - "increased size of the lymph node", - "abnormal DNA metabolic process", - "abnormal cellular component organization", - "abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "Abnormal soft palate morphology", - "Aplasia/Hypoplasia of the uvula", - "abnormal uterus", - "Abnormality of the uterus", - "abnormal uterus morphology", - "Functional abnormality of the inner ear", - "shape uterus", + "abnormal brain morphology", + "upper urinary tract", + "delayed biological_process", + "skeletal system", + "manual digit plus metapodial segment", + "abnormal nervous system", + "neuron projection bundle", + "abnormal orbital region", + "orifice", + "Functional abnormality of the gastrointestinal tract (HPO)", + "innominate bone", + "abnormally increased number of anatomical entity", + "trunk bone", + "Abnormality of the forehead (HPO)", + "material entity", + "Abnormality of the biliary system (HPO)", + "abnormal head", + "Hydroureter (HPO)", + "asymmetrically curved cornea", + "abnormal central nervous system morphology", + "artery", + "abnormal male reproductive system", + "lower digestive tract", + "curved anatomical entity", + "abnormal bone of pelvic complex morphology", + "excreta", + "Limb undergrowth (HPO)", + "Abnormal facial shape (HPO)", + "curved anatomical entity in independent continuant", + "Abnormality of the spleen (HPO)", + "eyeball of camera-type eye", + "Aplasia/Hypoplasia of facial bones (HPO)", + "Abnormality of limbs (HPO)", + "reproduction", + "curvature anatomical entity", + "abnormal nerve", + "musculoskeletal system", + "abnormal camera-type eye morphology", + "abnormal cervical vertebra", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of refraction (HPO)", "3-D shape anatomical entity", - "abnormal glucose homeostasis", - "abnormal cellular process", - "abnormal carbohydrate homeostasis", - "Abnormal glucose homeostasis", - "Abnormal homeostasis", - "decreased length of palpebral fissure", - "increased pigmentation", - "Abnormal skeletal morphology", - "Short palpebral fissure", - "Gastrointestinal dysmotility", - "decreased length of forelimb zeugopod bone", - "abnormal incomplete closing of the interatrial septum", - "Decreased multicellular organism mass", - "abnormal consumption behavior", - "Aplasia/Hypoplasia of the ulna", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", - "decreased size of the anatomical entity in the pectoral complex", - "forelimb zeugopod bone hypoplasia", - "Primitive neuroectodermal tumor", - "changed developmental process rate", - "abnormal musculoskeletal movement", - "Nervous tissue neoplasm", - "Abnormality of the gastrointestinal tract", - "Neuroepithelial neoplasm", + "abdominal segment bone", + "Abnormality of the testis size (HPO)", + "decreased length of digit", + "abnormality of anatomical entity physiology", + "anterior segment of eyeball", + "multicellular organismal-level homeostasis", + "Abnormality of the male genitalia (HPO)", + "skeletal element", + "abnormal vertebral column", + "sensory system", + "abnormal innominate bone morphology", + "abnormality of anatomical entity mass", + "bone of craniocervical region", + "chromatin organization", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "abnormal cerebrospinal fluid", + "abnormal face", + "Abnormality of the lens (HPO)", + "reproductive system", + "abnormal phalanx of manus morphology", + "Neoplasm of the genitourinary tract (HPO)", + "aplasia or hypoplasia of anatomical entity", + "primary circulatory organ", + "cornea", + "Abnormality of the peripheral nervous system (HPO)", + "oral cavity", + "abnormal respiratory system", + "Abnormal male reproductive system physiology (HPO)", + "drooping anatomical entity", + "paired limb/fin", + "abnormal anatomical entity", + "Abnormal hand morphology (HPO)", + "cervical region of vertebral column", + "sensory perception of sound", + "bone of jaw", + "abnormal coronary vessel morphology", + "abnormal ulna morphology", + "irregular bone", + "dorsal part of neck", + "embryonic structure", + "cervical vertebra endochondral element", + "bone of dorsum", + "Abnormality of the genitourinary system (HPO)", + "nervous system cell part layer", "abnormal gastro-intestinal system smooth muscle contraction", - "decreased gastro-intestinal system smooth muscle contraction", - "abnormal muscle contraction", - "abnormal face morphology", - "abnormal intestine morphology", - "Neoplasm of the colon", - "abnormal hindlimb morphology", - "abnormal breast morphology", - "abnormal chest", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal breast morphology", - "Abnormality of the skin", - "Abnormality of the breast", - "Abnormality of skin pigmentation", - "abnormal chest morphology", - "Abnormality of body height", - "Abnormality of the eye", - "decreased size of the ulna", - "decreased height of the anatomical entity", - "Abnormality of the vertebral column", - "Short stature", - "decreased size of the anatomical entity", - "non-functional kidney", - "abnormal anatomical entity morphology in the pelvic complex", - "decreased height of the multicellular organism", - "Abnormality of bone marrow cell morphology", - "abnormal large intestine morphology", - "Anemia", - "abnormal cardiac valve morphology in the heart", - "Splenomegaly", - "Abnormality of the hand", - "Abnormal erythrocyte morphology", - "decreased pigmentation in skin of body", - "Abnormal finger morphology", - "abnormal erythrocyte morphology", - "abnormal outflow part of left ventricle morphology", - "abnormal internal ear", - "abnormal vestibulo-ocular reflex", - "Abnormal vestibular function", - "Nystagmus", - "Cryptorchidism", - "paralysed anatomical entity", - "Abnormal gastrointestinal motility", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "paralysed cranial nerve", - "Abnormality of the peripheral nervous system", + "vertebral element", + "decreased size of the anatomical entity in the independent continuant", + "decreased length of anatomical entity in independent continuant", + "endochondral bone", + "ganglion", + "abnormal anterior chamber of eyeball morphology", + "abnormal mouth", + "abnormal pigmentation in independent continuant", + "Abnormal oral cavity morphology (HPO)", + "abnormal incomplete closing of the ductus arteriosus", + "Clubbing (HPO)", + "shape anatomical entity", + "Abnormal axial skeleton morphology (HPO)", + "clavate digit", + "abnormal size of anatomical entity", + "lymphatic part of lymphoid system", + "Hypopigmentation of the skin (HPO)", + "Anemia (HPO)", + "Neuroectodermal neoplasm (HPO)", + "Phenotypic abnormality (HPO)", "abnormal peripheral nervous system morphology", - "Cranial nerve paralysis", - "Sideroblastic anemia", - "Abnormality of the hypothalamus-pituitary axis", - "deviation of anatomical entity", - "Visual impairment", - "deviation of manual digit towards the middle", - "deviation of manual digit 5 towards the middle", - "abnormal parasympathetic ganglion morphology", - "deviation of digit towards the middle", - "abnormal location of eyeball of camera-type eye", - "deviation of manual digit 5", - "deviation of manual digit", - "Abnormality of bone mineral density", - "decreased length of manual digit", - "aplasia or hypoplasia of manual digit", - "Short digit", - "decreased length of manual digit 1", - "Aplasia/Hypoplasia of fingers", - "Pain", - "Short thumb", - "Prostate neoplasm", - "Short finger", - "Spinal dysraphism", - "Congenital malformation of the great arteries", - "decreased pigmentation in multicellular organism", - "Hypopigmentation of the skin", - "Abnormality of the urinary system physiology", - "Hypopigmented skin patches", - "decreased multicellular organism mass", - "decreased qualitatively pigmentation", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "abnormal abdomen morphology", - "abnormal phalanx morphology", - "lymph node hyperplasia", - "Abnormal toe phalanx morphology", - "abnormal phalanx of pes morphology", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal lymph node morphology", - "Abnormal autonomic nervous system morphology", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal small intestine", - "Azoospermia", - "Abnormal small intestine morphology", + "Oligohydramnios (HPO)", + "Abnormal skeletal morphology (HPO)", + "vestibulo-auditory system", + "Abnormality of the upper urinary tract (HPO)", + "muscle system process", + "regulation of gene expression", + "ductus arteriosus", "abnormal eyelid morphology", - "Back pain", - "Abnormal peritoneum morphology", - "Neural tube defect", - "Reduced impulse control", - "Recurrent maladaptive behavior", - "Abnormality of lower limb joint", - "abnormal heart layer morphology", - "Abnormal frontal bone morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "abnormal frontal cortex morphology", - "abnormal shape of frontal cortex", - "Abnormal shape of the frontal region", - "increased qualitatively biological_process", - "Abnormal cerebral cortex morphology", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal homeostatic process", - "abnormal lymph node morphology", - "abnormal size of lymph node", - "abnormally decreased functionality of the gonad", - "Puberty and gonadal disorders", - "Male reproductive system neoplasm", - "Orofacial cleft", - "Abnormality of immune system physiology", - "abnormal enteric ganglion morphology", - "Unusual infection", - "abnormal size of anatomical entity", - "abnormal esophagus morphology", - "abnormality of renal system physiology", - "Abnormal lens morphology", - "Abnormal respiratory system morphology", - "Multiple cafe-au-lait spots", - "increased qualitatively response to stimulus", - "Hyperreflexia", - "increased reflex", - "Decreased fertility in males", - "abnormality of exocrine pancreas physiology", - "Abnormal ureter morphology", - "absent anatomical entity in the independent continuant", - "abnormal ureter", - "changed biological_process rate in independent continuant", - "abnormality of kidney physiology", - "Abnormal duodenum morphology", - "Abnormal foot morphology", - "Duodenal stenosis", - "Right ventricular hypertrophy", - "Global developmental delay", - "abnormal neural tube morphology", - "abnormal bony vertebral centrum morphology", - "Abnormal spinal cord morphology", - "non-functional anatomical entity", - "Abnormal vertebral morphology", + "abnormal liver", + "Abnormality of ganglion of peripheral nervous system (HPO)", + "abnormally fused anatomical entity and pedal digit", + "axial skeletal system", + "lower urinary tract", + "abnormal neck morphology", + "decreased qualitatively pigmentation", + "cranial skeletal system", + "anatomical collection", + "abnormal skeletal system morphology", + "compound organ", + "Short stature (HPO)", + "Upslanted palpebral fissure (HPO)", + "decreased qualitatively reproductive process", + "Ovarian neoplasm (HPO)", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "Abnormal renal morphology (HPO)", + "venous system", + "increased size of the head", + "Abnormality of the palpebral fissures (HPO)", + "constricted anatomical entity", + "Hypermelanotic macule (HPO)", + "abdomen element", + "Abnormal vascular morphology (HPO)", + "subdivision of trunk", + "respiratory tube", + "decreased pigmentation in multicellular organism", + "Abnormal ocular adnexa morphology (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "Abnormality of the lymphatic system (HPO)", + "Abnormality of the upper limb (HPO)", + "Abnormality of body weight (HPO)", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "sense organ", + "gland", + "abnormal cardiac atrium morphology in the heart", + "abnormal postcranial axial skeleton morphology", + "entity", + "systemic artery", + "abnormal skin of body", + "manual digit 5 plus metapodial segment", + "abnormal size of head", + "Abnormality of the ocular adnexa (HPO)", + "flat longitudinal arch of pes", + "Abnormality of the face (HPO)", + "increased size of the brain ventricle", + "abnormally fused digit and digit", + "Ventricular septal defect (HPO)", + "subdivision of head", + "abdominal segment of trunk", + "aplasia or hypoplasia of manual digit", + "heart left ventricle", + "tube", + "Neoplasm of the gastrointestinal tract (HPO)", + "future central nervous system", + "sloped anatomical entity", + "increased size of the liver", + "anatomical system", + "Abnormal cornea morphology (HPO)", + "concave 3-D shape anatomical entity", + "autonomic ganglion", + "naris", + "female reproductive system", + "Abnormal endocrine morphology (HPO)", + "Abscess (HPO)", + "skin of face", + "decreased qualitatively developmental process", + "sperm", + "Cardiomyopathy (HPO)", + "Abnormal cellular phenotype (HPO)", + "female organism", + "cell development", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "male reproductive system", + "phenotype", + "All (HPO)", + "abnormal size of eyeball of camera-type eye", + "Decreased multicellular organism mass", + "abnormality of digestive system physiology", + "Abnormality of the ovary (HPO)", + "decreased anatomical entity mass", + "biological regulation", + "carbon group molecular entity", + "trachea", + "Ventriculomegaly (HPO)", + "Phenotypic abnormality", + "platelet", + "skeleton", + "manual digit", + "abnormal large intestine morphology", + "main body axis", ], }, { @@ -8034,633 +12289,1149 @@ def autocomplete_response(): "HP:0025023", ], "has_phenotype_label": [ - "Chromosome breakage", - "Hydronephrosis", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", - "Hypoplasia of the radius", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", - "Short stature", - "Small thenar eminence", - "Stage 5 chronic kidney disease", - "Rectal atresia", + "Chromosome breakage (HPO)", + "Hydronephrosis (HPO)", + "Absent thumb (HPO)", + "Abnormal heart morphology (HPO)", + "Anal atresia (HPO)", + "Hypoplasia of the radius (HPO)", + "Cryptorchidism (HPO)", + "Short thumb (HPO)", + "Proximal placement of thumb (HPO)", + "Renal cyst (HPO)", + "External genital hypoplasia (HPO)", + "Short stature (HPO)", + "Small thenar eminence (HPO)", + "Stage 5 chronic kidney disease (HPO)", + "Rectal atresia (HPO)", ], "has_phenotype_count": 15, "has_phenotype_closure": [ - "HP:0011100", - "UPHENO:0087346", - "UPHENO:0002714", - "HP:0025023", - "HP:0012718", - "HP:0002250", - "HP:0011024", - "UPHENO:0002725", - "UPHENO:0076783", + "UBERON:0013765", "UPHENO:0063629", - "HP:0002034", - "HP:0012732", - "UPHENO:0076735", - "HP:0002589", + "NCBITaxon:33154", + "UBERON:0004921", + "UPHENO:0063632", + "UPHENO:0063639", + "UPHENO:0020717", + "UBERON:0004907", + "UBERON:0006866", + "NCBITaxon:6072", "UPHENO:0076773", + "UBERON:0000481", + "HP:0002034", "HP:0003774", "UPHENO:0002411", + "UPHENO:0002442", + "HP:0100871", + "HP:0001245", + "UPHENO:0002816", + "UBERON:0017716", + "UPHENO:0076710", + "HP:0011805", + "HP:0001421", + "NCBITaxon:131567", + "UBERON:0014793", + "UPHENO:0002649", + "UBERON:0004480", + "UBERON:0007269", + "UBERON:0001015", + "HP:0001510", + "HP:0001507", + "GO:0040007", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0080351", + "HP:0003241", + "MPATH:55", + "MPATH:603", + "MPATH:56", + "UPHENO:0002786", + "HP:0000107", + "UPHENO:0002655", + "HP:0009623", + "HP:0004097", + "UPHENO:0046411", + "UPHENO:0020795", + "HP:0011927", + "HP:0009381", + "UPHENO:0046624", + "UBERON:0005156", + "HP:0009484", + "GO:0003006", + "GO:0048609", + "GO:0000003", + "GO:0032504", + "HP:0012243", + "UPHENO:0053580", + "NCBITaxon:2759", + "UPHENO:0052178", + "UPHENO:0050101", + "HP:0000811", + "UBERON:0004175", + "UBERON:0008878", + "UBERON:0003135", + "UBERON:0003101", + "UBERON:0000383", + "CL:0000003", + "UPHENO:0002597", + "UPHENO:0050108", + "UPHENO:0002371", + "UPHENO:0000541", + "UPHENO:0003055", + "UPHENO:0002598", + "UBERON:0003133", + "UBERON:0008837", + "UPHENO:0020950", + "UPHENO:0049985", + "HP:0000027", + "UPHENO:0002599", + "HP:0011961", + "CL:0000015", + "UBERON:0013522", + "CL:0000408", + "GO:0032502", + "GO:0022414", + "UPHENO:0002595", + "HP:0000025", + "HP:0009603", + "HP:0012874", + "UPHENO:0082875", + "HP:0000022", + "UBERON:0000990", + "HP:0003011", + "UPHENO:0005597", + "UPHENO:0002378", + "UPHENO:0021284", + "CL:0000586", + "UBERON:0001353", + "GO:0007283", + "GO:0007276", + "GO:0019953", + "UBERON:0004053", + "UPHENO:0076727", + "UPHENO:0002332", + "UBERON:0000079", + "UPHENO:0078729", + "UPHENO:0021561", + "UBERON:0005913", + "UBERON:0003466", + "UPHENO:0081792", + "UPHENO:0075944", + "HP:0005773", + "UPHENO:0069294", + "UPHENO:0049970", + "UBERON:0000473", "HP:0012211", - "HP:0011277", - "UPHENO:0002442", + "HP:0001227", + "HP:0006503", + "HP:0045009", + "HP:0006501", + "UPHENO:0012541", + "CL:0000019", + "HP:0009821", + "UBERON:0003103", + "UPHENO:0068971", + "UPHENO:0081313", + "HP:0040073", + "HP:0002973", + "HP:0009778", + "HP:0000812", + "HP:0002984", + "UBERON:0002386", + "UBERON:0002102", + "UPHENO:0005651", + "UPHENO:0012274", + "UPHENO:0020609", "UPHENO:0081433", - "UPHENO:0088142", - "HP:0003011", - "UPHENO:0002655", + "UPHENO:0002719", + "HP:0003026", + "UBERON:0010703", + "UPHENO:0002751", + "UPHENO:0080382", + "UPHENO:0046540", "UPHENO:0081341", - "UPHENO:0063632", - "HP:0001421", - "HP:0001227", - "HP:0009127", - "UPHENO:0000541", - "UPHENO:0069254", - "UPHENO:0000543", - "UPHENO:0080351", + "UBERON:0001245", + "UBERON:0003221", + "UPHENO:0076803", + "HP:0003839", + "UPHENO:0001072", + "UBERON:0000025", + "HP:0005918", + "UBERON:0000161", + "UPHENO:0074228", + "UBERON:0010363", + "UPHENO:0076740", + "UPHENO:0076735", + "UPHENO:0020869", + "UBERON:0010707", + "UPHENO:0002833", + "UBERON:0001434", "UPHENO:0063599", - "UPHENO:0063565", - "HP:0011017", - "HP:0030680", - "HP:0000083", + "HP:0011024", + "UPHENO:0046707", "UPHENO:0026506", - "HP:0000027", - "UPHENO:0008523", - "UPHENO:0006910", - "UPHENO:0011498", - "HP:0001155", - "UPHENO:0084766", - "UPHENO:0021561", - "UPHENO:0080126", - "UPHENO:0076810", - "UPHENO:0002830", + "UBERON:0001555", + "UBERON:0004176", + "UBERON:0002428", + "UPHENO:0046538", + "HP:0000002", + "HP:0011842", + "HP:0004378", + "HP:0025033", + "UBERON:0001007", + "HP:0011100", + "UBERON:0005181", + "HP:0002023", "UPHENO:0080362", - "UPHENO:0076776", - "HP:0011793", - "UPHENO:0084448", - "HP:0009824", - "HP:0009115", - "UPHENO:0080079", - "HP:0011844", - "UPHENO:0086172", - "UPHENO:0087501", - "HP:0009601", - "HP:0001507", + "UBERON:0002075", + "UBERON:0010314", + "HP:0000119", + "UBERON:0004535", + "UBERON:0005178", + "UBERON:0034929", + "UBERON:0000991", "HP:0040070", - "HP:0006265", - "HP:0011805", - "HP:0009777", - "UPHENO:0002595", - "UPHENO:0003055", - "UPHENO:0026181", - "HP:0003241", - "HP:0011297", - "UPHENO:0002649", - "UPHENO:0084761", - "HP:0003026", + "GO:0048519", + "UBERON:0000948", + "UBERON:0012358", + "UBERON:0001008", + "UBERON:0012357", + "UBERON:0001437", + "UBERON:0005090", + "UPHENO:0049587", + "UBERON:0002470", + "UPHENO:0076754", + "UBERON:0000160", + "UBERON:0004120", + "UBERON:0034923", + "UPHENO:0079876", + "HP:0009380", + "UPHENO:0084448", + "UPHENO:0002832", + "UBERON:0001009", + "UBERON:0001968", + "UPHENO:0084444", + "UPHENO:0081451", + "UBERON:0012139", + "UPHENO:0050021", + "UBERON:0002544", "UPHENO:0002964", - "UPHENO:0005016", - "HP:0000119", - "UPHENO:0080099", - "HP:0004322", - "UPHENO:0002833", + "UPHENO:0081755", + "UPHENO:0075696", + "HP:0006505", + "HP:0001167", + "UBERON:5002389", + "UBERON:0015001", + "GO:0065007", + "UBERON:0010543", + "UBERON:0002113", + "UBERON:0015021", + "UBERON:5102544", + "UBERON:0000064", + "UBERON:0004446", + "HP:0040072", + "UBERON:0002204", + "UBERON:0012150", + "UPHENO:0076724", "HP:0000924", - "UPHENO:0076703", - "UPHENO:0084771", + "UPHENO:0002905", + "UPHENO:0020041", + "UPHENO:0026023", + "UBERON:0001224", + "UPHENO:0080325", + "HP:0010944", + "UPHENO:0020853", + "UBERON:5002544", + "HP:0010577", + "HP:0045060", + "HP:0009824", + "HP:0040068", + "UBERON:0005409", + "UPHENO:0049990", + "UPHENO:0084446", + "HP:0002589", + "UPHENO:0080099", + "HP:0002817", + "UPHENO:0026028", + "HP:0001155", "HP:0005922", + "CL:0000300", + "UBERON:0015025", + "UBERON:0001630", + "UBERON:0001436", + "UPHENO:0046505", + "UBERON:0015023", + "UBERON:0003607", + "OBI:0100026", + "HP:0009826", + "UBERON:0019231", + "GO:0031323", + "UBERON:0011249", + "UBERON:0006058", + "HP:0000077", + "UPHENO:0080114", + "UBERON:0001474", + "UPHENO:0019528", + "HP:0005930", "UPHENO:0008668", + "HP:0000032", + "UBERON:0004288", + "HP:0009777", + "UPHENO:0081790", + "HP:0000080", + "HP:0010228", + "PR:000050567", + "HP:0040064", + "MPATH:62", + "UPHENO:0009300", + "UPHENO:0009327", + "UPHENO:0027319", + "UPHENO:0009382", + "HP:0010935", + "UBERON:0000922", + "UBERON:0002398", + "UBERON:0010758", + "UBERON:0004249", + "UPHENO:0005016", + "UBERON:0004381", + "UBERON:0012140", + "GO:0032501", + "HP:0000126", + "UBERON:0005451", + "UBERON:5106048", + "UBERON:0001463", "UPHENO:0018390", - "UPHENO:0084763", - "UPHENO:0086633", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0040068", + "UBERON:0010708", + "UBERON:0034925", + "HP:0025023", + "UBERON:0015410", + "UBERON:0007271", + "GO:0040029", + "UBERON:0004481", "UPHENO:0026183", - "UPHENO:0050116", - "UPHENO:0049367", - "UPHENO:0009382", - "HP:0002813", - "UPHENO:0020584", - "UPHENO:0046411", - "HP:0034242", - "UPHENO:0053644", - "UPHENO:0075902", - "UPHENO:0076718", - "UPHENO:0046624", - "UPHENO:0001005", - "UPHENO:0074228", - "UPHENO:0002597", - "HP:0001172", - "UPHENO:0079876", - "UPHENO:0063639", - "UPHENO:0002816", - "UPHENO:0053580", - "HP:0000118", - "UPHENO:0076724", - "HP:0009381", - "UPHENO:0049990", - "UPHENO:0080352", - "UPHENO:0002647", - "UPHENO:0049873", - "UPHENO:0076727", - "BFO:0000020", - "UPHENO:0050845", - "BFO:0000002", - "UPHENO:0002839", - "UPHENO:0053298", - "HP:0005927", - "UPHENO:0049700", - "UPHENO:0081466", - "HP:0040012", - "HP:0000028", - "HP:0001939", - "UPHENO:0001003", - "HP:0011425", + "UBERON:0008962", + "HP:0009815", "HP:0033127", - "UPHENO:0086635", - "UPHENO:0001002", - "HP:0025354", - "HP:0009821", - "HP:0000001", - "HP:0010935", + "UBERON:0015024", + "BFO:0000003", + "UPHENO:0026181", + "NCBITaxon:1", "UPHENO:0049940", - "UPHENO:0076723", - "UPHENO:0049748", - "HP:0001626", - "HP:0003220", - "UPHENO:0078452", - "HP:0000079", - "UPHENO:0050021", - "UPHENO:0086132", - "UPHENO:0075195", - "HP:0045060", - "UPHENO:0076692", + "UPHENO:0008523", + "UPHENO:0021802", + "UPHENO:0021800", + "UBERON:0003606", + "UPHENO:0069254", + "UBERON:0004710", + "UBERON:0008785", + "UBERON:0001440", + "UBERON:5101463", + "UPHENO:0019589", + "UBERON:0002091", "UPHENO:0002536", - "UPHENO:0050121", - "UPHENO:0085875", - "HP:0009603", + "UBERON:0005172", + "UPHENO:0027467", + "UBERON:0010538", + "HP:0010461", + "GO:0010468", + "UPHENO:0002830", + "HP:0011297", + "UBERON:0004765", + "UBERON:0005177", + "UBERON:0002529", + "UBERON:0001460", + "BFO:0000020", + "UBERON:0019221", + "HP:0011844", + "UPHENO:0049701", + "UPHENO:0053298", + "UPHENO:0011498", + "UPHENO:0002714", + "UBERON:0010912", + "UPHENO:0076810", + "UPHENO:0075195", + "UPHENO:0002803", + "UBERON:0001052", + "UBERON:0001442", + "GO:0006338", + "UPHENO:0078606", + "UPHENO:0002896", + "UPHENO:0049874", + "PATO:0000001", + "UPHENO:0084447", + "UBERON:0001423", + "UBERON:0000153", + "UBERON:0002513", + "UPHENO:0076776", + "UPHENO:0080377", + "UBERON:0002495", + "HP:0011277", + "UBERON:0010740", + "UBERON:0003620", + "UBERON:5102389", + "UBERON:0003460", + "UBERON:0004387", + "CL:0000413", + "HP:0001446", + "UPHENO:0006910", + "HP:0005924", + "UBERON:0006717", + "UPHENO:0075763", + "UBERON:0002389", "UPHENO:0002708", - "HP:0000032", + "UPHENO:0027575", + "HP:0009686", + "UBERON:0000477", + "UPHENO:0084132", + "UPHENO:0002880", + "UBERON:0000467", + "UBERON:0015228", + "UPHENO:0001478", + "HP:0002818", "HP:0001197", - "UPHENO:0001001", - "UPHENO:0087547", - "UPHENO:0002786", - "UPHENO:0075893", - "UPHENO:0086128", - "UPHENO:0049587", - "UPHENO:0076740", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0050113", - "HP:0034058", - "UPHENO:0002896", - "UPHENO:0084829", - "HP:0012210", - "HP:0001167", - "HP:0040064", + "UBERON:0012475", + "HP:0005927", + "UBERON:0002100", + "HP:0006496", + "HP:0011425", "UPHENO:0076779", + "UBERON:0009569", + "UPHENO:0002839", + "HP:0002250", + "UBERON:0000916", + "UBERON:5001463", + "UPHENO:0052778", + "UPHENO:0079872", + "UBERON:0002417", + "UPHENO:0081091", + "UBERON:5006048", + "GO:0048232", + "UPHENO:0081204", + "UBERON:0005881", + "HP:0002242", + "HP:0034057", + "UBERON:0036295", + "HP:0010946", + "HP:0012210", + "HP:0005920", + "GO:0016043", + "HP:0025031", + "GO:0009890", + "HP:0034242", + "UPHENO:0027515", + "GO:0031052", + "UBERON:0013702", + "UBERON:0002101", + "HP:0000078", + "HP:0009599", + "GO:0006325", + "UBERON:0012141", + "UPHENO:0080126", + "HP:0004322", + "GO:0010629", + "HP:0001627", + "UBERON:0005055", + "UBERON:0010741", + "NCBITaxon:33208", + "UPHENO:0075893", + "UBERON:0000323", + "HP:0001626", + "UBERON:0012354", + "UPHENO:0075159", + "UBERON:0034944", + "GO:0010605", + "RO:0002577", + "HP:0000079", + "UBERON:0000062", + "UPHENO:0065599", + "UPHENO:0020584", + "UBERON:0001062", "UPHENO:0084124", + "UBERON:0007100", + "GO:0010558", + "UBERON:8450002", + "HP:0012718", + "UPHENO:0002647", + "UBERON:0005897", + "UPHENO:0075949", + "GO:0043933", + "MPATH:1000", + "GO:0010556", + "HP:0012732", + "UBERON:0011676", + "UPHENO:0002725", + "GO:0050794", + "HP:0012622", + "UBERON:0011216", + "UBERON:0000059", + "UPHENO:0019615", "HP:0008669", - "UPHENO:0001072", - "UPHENO:0002905", - "HP:0000077", - "HP:0010944", + "HP:0000001", + "UPHENO:0076783", + "UPHENO:0075902", + "UBERON:0004122", + "UBERON:0004708", + "UBERON:0000026", + "HP:0003220", + "HP:0011017", + "HP:0001172", + "UPHENO:0001002", + "HP:0034058", + "UPHENO:0001001", + "UPHENO:0050113", + "UPHENO:0050121", + "GO:0050789", + "CL:0000039", + "UBERON:0000075", + "UBERON:0004111", + "UBERON:0010688", + "GO:0008150", + "UBERON:0015061", + "UPHENO:0076692", + "HP:0040012", + "UBERON:0011143", + "UBERON:0013701", + "UPHENO:0049367", + "UBERON:0011250", + "UBERON:0000465", + "UPHENO:0053644", + "HP:0009601", "HP:0010945", - "HP:0011842", - "UPHENO:0075696", - "UPHENO:0081790", - "UPHENO:0077426", - "HP:0002984", - "HP:0002817", - "UPHENO:0065599", - "UPHENO:0026028", - "PATO:0000001", - "UPHENO:0084834", - "UPHENO:0086700", - "UPHENO:0001478", - "UPHENO:0080377", - "HP:0034915", - "UPHENO:0078606", - "HP:0002664", - "HP:0001245", - "HP:0004378", - "UPHENO:0086644", + "BFO:0000004", + "UBERON:0015063", + "HP:0000118", + "UBERON:0005173", + "GO:0009892", "HP:0011314", - "UPHENO:0012274", - "UPHENO:0086682", - "HP:0025033", - "HP:0025031", - "HP:0000811", - "HP:0001510", - "UPHENO:0086201", - "UPHENO:0076803", - "UPHENO:0046505", - "HP:0005773", - "UPHENO:0080114", + "UPHENO:0000543", + "UBERON:0002471", + "UPHENO:0076718", + "GO:0009987", + "UPHENO:0049873", + "HP:0025354", + "UBERON:0000463", + "UPHENO:0001003", + "BFO:0000040", + "UPHENO:0081423", + "UBERON:0010712", + "UPHENO:0001005", + "UBERON:0004489", + "HP:0001939", + "UBERON:0004121", + "HP:0006265", + "UPHENO:0081581", + "GO:0071840", + "HP:0002813", + "HP:0000035", + "GO:0031326", + "UPHENO:0015280", + "HP:0030680", + "UBERON:0006048", "UPHENO:0005433", - "UPHENO:0084132", - "UPHENO:0005651", - "UPHENO:0081313", - "HP:0002242", - "UPHENO:0076710", - "UPHENO:0081091", - "HP:0009815", - "UPHENO:0088186", - "HP:0040072", - "UPHENO:0087510", - "HP:0006501", - "UPHENO:0002751", - "UPHENO:0079872", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0000002", - "UPHENO:0081204", - "HP:0006503", - "HP:0002023", - "HP:0002818", - "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0086956", - "UPHENO:0012541", - "HP:0002973", - "UPHENO:0085874", - "UPHENO:0069294", - "UPHENO:0052778", - "HP:0011927", + "BFO:0000002", + "GO:0008152", "UPHENO:0031839", - "UPHENO:0080187", - "HP:0000812", - "HP:0009826", - "UPHENO:0046538", - "UPHENO:0068971", - "UPHENO:0020041", - "UPHENO:0086198", - "UPHENO:0049701", - "UPHENO:0049970", - "UPHENO:0087846", - "UPHENO:0075949", - "HP:0012874", - "UPHENO:0087006", - "HP:0011961", - "UPHENO:0052178", - "HP:0000025", - "HP:0010461", - "HP:0009380", - "UPHENO:0002378", - "UPHENO:0087973", - "HP:0000035", - "HP:0012622", - "HP:0000078", - "UPHENO:0020950", - "UPHENO:0087802", - "HP:0100871", - "UPHENO:0087427", - "UPHENO:0002332", - "HP:0010946", - "UPHENO:0080382", - "UPHENO:0085873", - "UPHENO:0081755", - "HP:0012243", - "UPHENO:0082875", - "UPHENO:0046707", - "HP:0000080", - "UPHENO:0085194", - "HP:0004097", - "HP:0000126", - "UPHENO:0081792", - "UPHENO:0005597", - "UPHENO:0002598", - "UPHENO:0050101", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0080369", - "UPHENO:0086023", - "HP:0006496", - "HP:0009778", - "HP:0009623", - "UPHENO:0050108", - "HP:0000107", - "HP:0001446", - "UPHENO:0084841", - "HP:0009484", - "UPHENO:0002880", - "UPHENO:0075159", - "UPHENO:0049874", - "HP:0001627", - "UPHENO:0080325", + "GO:0071824", "UPHENO:0002642", - "UPHENO:0081423", - "HP:0034057", - "UPHENO:0081424", + "GO:0005623", + "GO:0009889", + "UPHENO:0076723", + "CL:0000000", + "UBERON:0012151", + "MPATH:0", + "UBERON:0007272", + "BFO:0000001", + "UPHENO:0081466", + "UPHENO:0076703", + "GO:0019222", + "GO:0031324", + "UBERON:0015212", + "HP:0000028", + "GO:0031049", + "HP:0009115", + "GO:0048523", + "UPHENO:0020832", + "UBERON:0010000", + "UBERON:0011584", + "UPHENO:0063565", + "UBERON:0004375", + "HP:0000083", + "GO:0031327", + "UBERON:0000489", + "UBERON:0000468", + "UPHENO:0080079", + "BFO:0000015", + "GO:0060255", + "UBERON:0000061", + "UPHENO:0080187", + "UPHENO:0020651", + "UBERON:0004054", + "HP:0009127", + "UPHENO:0020220", + "UBERON:0012361", + "UBERON:0000915", + "UBERON:0011582", + "UPHENO:0049700", + "UBERON:0000475", ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "Rectal atresia", - "Morphological abnormality of the gastrointestinal tract", - "alimentary part of gastrointestinal system atresia", - "abnormal alimentary part of gastrointestinal system", - "Anorectal anomaly", - "Abnormality of the gastrointestinal tract", + "digestive system element", + "Rectal atresia (HPO)", + "Abnormal large intestine morphology (HPO)", + "abnormal intestine morphology", + "subdivision of tube", + "internal anal region", + "lower digestive tract", + "intestine", + "terminal part of digestive tract", + "large intestine", + "Gastrointestinal atresia (HPO)", + "organism", "rectum atresia", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal rectum", - "Intestinal atresia", - "non-functional kidney", - "abnormality of kidney physiology", - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "Chronic kidney disease", - "Renal insufficiency", - "Small thenar eminence", - "Abnormality of the thenar eminence", - "thenar eminence hypoplasia", - "Abnormality of the musculature of the upper limbs", + "abnormal rectum morphology", + "Eukaryota", + "alimentary part of gastrointestinal system atresia", + "intestine atresia", + "root", + "Renal insufficiency (HPO)", + "Abnormal renal physiology (HPO)", + "abnormal large intestine morphology", + "Abnormality of the urinary system physiology (HPO)", + "Chronic kidney disease (HPO)", + "muscle organ", + "abnormal muscle organ morphology", + "Abnormal rectum morphology (HPO)", "abnormal musculature of upper limb", - "abnormal musculature", - "Abnormality of the musculature of the hand", + "musculature", + "musculature of body", + "external soft tissue zone", "abnormal musculature of limb", - "Abnormality of the musculature of the limbs", - "Abnormal palm morphology", - "Abnormality of the digestive system", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal digit morphology", - "absent anatomical entity", - "decreased length of manual digit", - "abnormal cellular process", - "abnormal palmar part of manus morphology", - "Growth abnormality", - "abnormal skeletal system", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "aplastic anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal manus", - "Abnormality of the musculature", - "abnormal digit", - "abnormal organelle organization", - "Abnormality of limb bone", - "abnormal cardiovascular system morphology", + "musculature of limb", + "pectoral appendage musculature", + "abnormal anatomical entity morphology in the palmar part of manus", + "abnormal musculature", + "palmar part of manus", + "palmar/plantar part of autopod", + "Abnormality of the palm (HPO)", + "abnormal palmar part of manus", + "Abnormal skeletal muscle morphology (HPO)", + "muscle structure", + "Small thenar eminence (HPO)", + "thenar eminence hypoplasia", + "Abnormality of the musculature of the limbs (HPO)", + "Abnormality of the musculature (HPO)", + "abnormal musculature of manus", + "decreased height of the multicellular organism", + "abnormal size of multicellular organism", + "delayed biological_process", + "growth", + "decreased size of the multicellular organism", + "Short stature (HPO)", + "abnormality of anatomical entity height", + "delayed growth", "abnormality of multicellular organism height", + "External genital hypoplasia (HPO)", + "pathological phenotype observation", + "Deviation of finger (HPO)", + "Deviation of the thumb (HPO)", + "Deviation of the hand or of fingers of the hand (HPO)", + "Proximal placement of thumb (HPO)", + "anal region", + "Short finger (HPO)", + "decreased length of digit", + "Short thumb (HPO)", + "decreased length of manual digit 1", + "male organism", + "native cell", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "Abnormality of the genital system (HPO)", + "decreased qualitatively reproductive process", + "decreased qualitatively biological_process", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "gamete generation", + "sexual reproduction", + "Renal cyst (HPO)", + "external male genitalia", + "germ line cell", + "Abnormal testis morphology (HPO)", + "abnormal developmental process", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "reproductive process", + "multicellular organismal process", + "external genitalia", + "abnormal reproductive system morphology", + "abnormality of kidney physiology", + "decreased biological_process", + "abnormal male reproductive organ morphology", + "semen", + "organism substance", + "abnormally localised anatomical entity", + "decreased developmental process", + "abnormal location of anatomical entity", + "Abnormality of the musculature of the upper limbs (HPO)", + "Cryptorchidism (HPO)", + "abnormal internal genitalia", + "reproductive organ", + "abnormality of reproductive system physiology", + "abnormal developmental process involved in reproduction", + "Abnormality of the kidney (HPO)", + "Abnormal external genitalia (HPO)", + "multicellular organismal reproductive process", + "musculoskeletal system", + "abnormally localised anatomical entity in independent continuant", + "absent epiphysis of phalanx of manus in the independent continuant", + "abnormality of anatomical entity physiology", + "manual digit bone", + "decreased spermatogenesis", + "abnormal gamete generation", + "abnormality of internal male genitalia physiology", + "reproductive system", + "abnormal testis morphology", + "anatomical entity hypoplasia", + "decreased size of the anatomical entity in the pectoral complex", + "abnormal radius bone morphology", + "sperm", + "Dilatation of the renal pelvis (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Abnormal forearm bone morphology (HPO)", + "Abnormality of forearm bone (HPO)", + "decreased length of forelimb zeugopod bone", + "Abnormality of the forearm (HPO)", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", + "zeugopod", + "Growth abnormality (HPO)", + "radius bone hypoplasia", + "arm bone", + "radius bone", + "abnormal long bone morphology", + "Aplasia/hypoplasia involving forearm bones (HPO)", "forelimb zeugopod bone hypoplasia", - "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "absent anatomical entity in the forelimb", + "abnormal digestive system morphology", + "decreased length of anatomical entity", + "Abnormal intestine morphology (HPO)", + "tube", + "anus", + "abdomen", + "anus atresia", + "alimentary part of gastrointestinal system", + "digestive system", + "material entity", + "abnormal closing of the anatomical entity", + "anatomical entity atresia", + "abnormal alimentary part of gastrointestinal system morphology", + "Anorectal anomaly (HPO)", + "abnormal anus morphology", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "circulatory system", + "Abnormality of the cardiovascular system (HPO)", + "structure with developmental contribution from neural crest", + "cardiovascular system", + "abnormal cardiovascular system morphology", + "late embryo", + "abnormal external male genitalia", + "digestive tract", + "circulatory organ", + "primary circulatory organ", + "viscus", + "Fetal anomaly (HPO)", + "thoracic segment of trunk", + "abnormal cardiovascular system", + "Abnormality of the musculature of the hand (HPO)", + "skeletal element", + "abnormal DNA metabolic process", + "forelimb", + "abnormal anatomical entity morphology in the skeleton of manus", + "autopodial skeleton", + "decreased size of the anatomical entity in the independent continuant", + "bone of free limb or fin", + "abnormal kidney", + "acropodial skeleton", "abnormal arm", - "aplasia or hypoplasia of anatomical entity", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "agenesis of anatomical entity", - "decreased developmental process", - "Abnormal thumb morphology", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal intestine morphology", - "aplastic manual digit 1", - "decreased qualitatively reproductive process", - "abnormal number of anatomical enitites of type anatomical entity", - "absent gamete", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal limb bone", - "increased size of the anatomical entity", - "bone element hypoplasia in independent continuant", - "Abnormality of the upper limb", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "abnormal bone of pectoral complex morphology", + "Abnormal fetal morphology (HPO)", + "system", + "Abnormal hand morphology (HPO)", + "abnormal thenar eminence", + "trunk region element", + "pectoral complex", + "digit 1 or 5", + "absent manual digit", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "changed developmental process rate", + "manual digitopodium region", + "reproductive structure", + "male reproductive organ", + "manual digit 1 or 5", + "abnormal reproductive system", + "absent epiphysis of phalanx of manus in the phalanx of manus", + "aplasia or hypoplasia of manual digit", + "pectoral appendage skeleton", + "Abnormal morphology of the radius (HPO)", + "abnormal epiphysis morphology in the independent continuant", + "phenotype", "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "anatomical entity hypoplasia", - "abnormal manual digit morphology in the independent continuant", + "subdivision of digestive tract", + "abnormal digestive system", + "abnormal manus", + "absent anatomical entity in the phalanx of manus", + "abnormality of male reproductive system physiology", + "zone of long bone", + "arm", + "long bone", + "anatomical entity hypoplasia in independent continuant", + "bone of appendage girdle complex", + "manual digit 1 plus metapodial segment", + "manual digit", + "skeleton of limb", + "abnormal forelimb zeugopod bone morphology", + "forelimb endochondral element", + "male reproductive system", + "limb bone", + "gonad", + "digit 1 digitopodial skeleton", + "Abnormality of the digestive system (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "decreased length of manual digit", + "Abnormality of the gastrointestinal tract (HPO)", + "epiphysis of phalanx of manus", + "chromatin remodeling", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of the thenar eminence (HPO)", + "abnormal digit", + "Absent epiphyses of the phalanges of the hand (HPO)", + "Abnormality of limbs (HPO)", + "reproduction", + "manus", + "rectum", + "abnormal cellular metabolic process", + "acropodium region", + "digitopodium region", + "Abnormal reproductive system morphology (HPO)", + "endochondral element", + "bone element", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal forelimb zeugopod", + "Abnormality of reproductive system physiology (HPO)", + "abnormal limb bone morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "zone of organ", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", + "abnormal phalanx morphology", "aplasia or hypoplasia of skeleton", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", + "heart", + "upper limb segment", + "decreased size of the anatomical entity", + "cavitated compound organ", + "Abnormal heart morphology (HPO)", + "Abnormality of limb epiphysis morphology (HPO)", + "compound organ", + "autopod region", + "radius endochondral element", + "trunk", + "digit 1 plus metapodial segment", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "renal pelvis", + "anterior region of body", + "absent anatomical entity in the multicellular organism", + "Abnormal appendicular skeleton morphology (HPO)", + "abnormal anus", + "abnormal anatomical entity morphology in the manus", + "mesoderm-derived structure", + "Abnormality of the upper limb (HPO)", + "paired limb/fin skeleton", + "Abnormal skeletal morphology (HPO)", + "abnormal radius bone", + "Abnormal digit morphology (HPO)", + "digit plus metapodial segment", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", + "manual digit 1 digitopodial skeleton", + "manual digit plus metapodial segment", + "Abnormal upper limb bone morphology (HPO)", + "phalanx endochondral element", + "limb skeleton subdivision", + "obsolete cell", + "epiphysis", + "appendage musculature", "abnormally dilated anatomical entity", - "abnormal metabolic process", - "Abnormality of the genital system", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "abnormal spermatogenesis", - "phenotype", + "digit 1", + "forelimb bone", + "male gamete generation", + "zeugopodial skeleton", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "paired limb/fin", + "abnormal phalanx of manus morphology", + "aplastic anatomical entity", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the hand (HPO)", + "abdominal segment element", "absent digit", - "abnormal male reproductive system morphology", - "abnormal cell", - "abnormal limb bone morphology", - "abnormal testis morphology", - "aplasia or hypoplasia of manual digit 1", - "entity", - "Absent thumb", - "abnormal autopod region morphology", - "decreased height of the multicellular organism", - "Short long bone", "abnormal renal pelvis", + "Abnormality of digestive system morphology (HPO)", + "upper urinary tract", + "skeletal system", + "chromatin organization", + "manual digit 1 phalanx", + "abnormal multicellular organismal reproductive process", + "Abnormality of chromosome stability (HPO)", + "manual digit 1 phalanx endochondral element", + "abnormal manus morphology", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "cell", + "phenotype by ontology source", + "forelimb long bone", + "heart plus pericardium", + "skeleton", + "manus bone", + "embryo", + "appendage", + "Abnormality of cardiovascular system morphology (HPO)", "abnormality of renal system physiology", - "quality", - "Abnormal renal pelvis morphology", - "Abnormality of prenatal development or birth", - "decreased length of long bone", - "absent anatomical entity in the multicellular organism", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal anatomical entity morphology in the palmar part of manus", - "absent manual digit", + "organism subdivision", + "programmed DNA elimination by chromosome breakage", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Fetal ultrasound soft marker (HPO)", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "musculature of upper limb", + "anatomical collection", + "skeleton of manual digitopodium", + "internal male genitalia", + "occurrent", + "manual digitopodium bone", + "abnormal skeletal system morphology", + "absent anatomical entity in the independent continuant", + "absent manual digit 1", + "subdivision of organism along appendicular axis", + "thenar eminence", + "pectoral appendage", + "male germ cell", + "lateral structure", + "limb", + "Opisthokonta", + "Abnormality of prenatal development or birth (HPO)", + "abnormal manual digit 1 morphology", + "autopod bone", + "autopod endochondral element", + "phalanx of manus", + "decreased length of anatomical entity in independent continuant", + "endochondral bone", + "absent epiphysis in the independent continuant", + "multi-limb segment region", + "musculature of manus", + "material anatomical entity", + "abnormal epiphysis morphology in the skeleton of manus", + "absent epiphysis", + "Growth delay (HPO)", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "Abnormality of the anus (HPO)", + "abnormal limb bone", + "Intestinal atresia (HPO)", + "Abnormality of the upper urinary tract (HPO)", + "Abnormal thumb morphology (HPO)", + "abnormal cellular component organization", + "appendicular skeletal system", + "abnormal epiphysis of phalanx of manus morphology", + "renal pelvis/ureter", + "increased size of the anatomical entity", + "Hypoplasia of the radius (HPO)", + "musculature of pectoral complex", + "abnormal spermatogenesis", + "germ cell", + "segment of manus", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "developmental process involved in reproduction", + "abnormal multicellular organism morphology", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "negative regulation of gene expression", + "anatomical entity", + "Upper limb undergrowth (HPO)", + "skeleton of pectoral complex", + "skeleton of digitopodium", + "subdivision of trunk", + "abdomen element", + "gamete", + "Abnormal renal pelvis morphology (HPO)", + "organ part", + "aplasia or hypoplasia of manual digit 1", + "skeleton of manus", + "anatomical conduit", + "Absent epiphyses of the thumb (HPO)", + "biological_process", + "protein-containing material entity", + "subdivision of skeleton", + "increased size of the anatomical entity in independent continuant", + "thoracic cavity element", + "Abnormal fetal genitourinary system morphology (HPO)", "abnormal phenotype by ontology source", - "deviation of manual digit", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", + "decreased size of the radius bone", + "multicellular anatomical structure", + "phalanx", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", + "Absent thumb (HPO)", + "abnormal late embryo", + "quality", + "forelimb zeugopod bone", + "regulation of cellular process", + "Hydronephrosis (HPO)", + "internal genitalia", + "anatomical cluster", + "Short long bone (HPO)", + "disconnected anatomical group", + "individual digit of digitopodial skeleton", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "Abnormality of thumb epiphysis (HPO)", + "abnormal kidney morphology", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "Abnormal renal morphology (HPO)", + "body proper", + "subdivision of organism along main body axis", + "orifice", + "Short forearm (HPO)", "changed biological_process rate", - "absent germ cell", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "Upper limb undergrowth", - "Abnormal long bone morphology", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", + "abnormal metabolic process", "abnormal renal pelvis morphology", - "Abnormal fetal morphology", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the urinary system", - "abnormal digestive system morphology", + "negative regulation of biosynthetic process", + "cellular organisms", + "aplasia or hypoplasia of radius bone", + "main body axis", + "paired limb/fin segment", + "regulation of macromolecule metabolic process", "continuant", - "Azoospermia", - "Abnormality of digestive system morphology", - "abnormal limb", - "abnormal muscle organ morphology", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "Abnormal renal morphology", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal biological_process", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal manus morphology", - "All", - "Abnormal upper limb bone morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "intestine atresia", - "Proximal placement of thumb", - "Fetal pyelectasis", - "Abnormal cellular physiology", - "Abnormality of chromosome stability", - "abnormal kidney", - "Neoplasm", - "Anal atresia", - "Cryptorchidism", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "Abnormal finger morphology", - "Aplasia of the fingers", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "abnormal heart morphology", - "abnormal upper urinary tract", - "Fetal ultrasound soft marker", - "abnormal appendicular skeleton morphology", - "abnormal renal system morphology", - "Abnormal large intestine morphology", + "aplastic manual digit 1", + "absent anatomical entity in the skeletal system", + "abnormal rectum", + "Short digit (HPO)", + "abnormal limb long bone morphology", + "decreased length of long bone", + "Abnormal cellular physiology (HPO)", "specifically dependent continuant", + "bone of pectoral complex", + "abnormal upper urinary tract", + "male gamete", + "ectoderm-derived structure", + "Limb undergrowth (HPO)", + "epiphysis of phalanx", + "Abnormality of metabolism/homeostasis (HPO)", + "abnormal digit morphology", + "Phenotypic abnormality", + "cellular component organization or biogenesis", + "bone element hypoplasia in independent continuant", "abnormal anatomical entity morphology", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal genitourinary system", - "abnormal late embryo", + "multi-tissue structure", + "abnormal biological_process", + "negative regulation of macromolecule metabolic process", + "organ system subdivision", + "Phenotypic abnormality (HPO)", + "process", + "absent anatomical entity", + "abnormally dilated renal pelvis", + "organ", + "protein-DNA complex organization", + "abnormal growth", + "Abnormal internal genitalia (HPO)", "increased size of the renal pelvis", - "abnormal closing of the anatomical entity", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal anus", - "Dilatation of the renal pelvis", - "anus atresia", - "Abnormality of the anus", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "appendage girdle complex", + "kidney", + "regulation of cellular biosynthetic process", + "limb endochondral element", + "Abnormal spermatogenesis (HPO)", + "Forearm undergrowth (HPO)", + "regulation of gene expression", + "Stage 5 chronic kidney disease (HPO)", + "absent anatomical entity in the forelimb", + "appendicular skeleton", + "abnormal alimentary part of gastrointestinal system", + "aplasia or hypoplasia of anatomical entity", + "anatomical system", + "All (HPO)", "abnormal external genitalia", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "Hydronephrosis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Limb undergrowth", - "decreased length of anatomical entity in independent continuant", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "abnormal radius bone morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "anatomical entity hypoplasia in independent continuant", + "abnormal heart morphology", + "limb long bone", + "regulation of metabolic process", + "skeleton of manual acropodium", + "excretory system", + "negative regulation of cellular process", + "absent anatomical entity in the limb", + "zone of bone organ", + "forelimb skeleton", + "Abnormality of the musculoskeletal system (HPO)", + "Metazoa", + "multicellular organism reproduction", + "negative regulation of cellular metabolic process", + "entity", + "epigenetic regulation of gene expression", + "abnormal renal system", + "Functional abnormality of male internal genitalia (HPO)", + "multicellular organism", + "manual digit 1", + "cellular process", + "Chromosome breakage (HPO)", + "abnormal size of anatomical entity", + "abnormal limb", + "digit", + "abdominal segment of trunk", + "autopodial extension", + "regulation of biological process", + "abnormal programmed DNA elimination by chromosome breakage", + "metabolic process", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "negative regulation of macromolecule biosynthetic process", "abnormally localised testis", - "Abnormality of male external genitalia", - "absent anatomical entity in the semen", - "abnormal male reproductive organ morphology", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "Abnormal internal genitalia", - "decreased qualitatively developmental process", - "abnormal reproductive process", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "Non-obstructive azoospermia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "Fetal anomaly", - "abnormal external male genitalia", - "abnormal reproductive system", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormality of internal male genitalia physiology", "abnormal male reproductive system", - "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type cell", - "Short digit", - "abnormal manual digit 1 morphology", - "Short thumb", - "Short finger", - "decreased length of digit", - "Deviation of finger", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", - "decreased size of the multicellular organism", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "Short stature", - "abnormal cardiovascular system", - "delayed growth", - "abnormality of anatomical entity height", - "abnormal growth", - "Abnormal rectum morphology", - "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", + "independent continuant", + "forelimb zeugopod skeleton", + "Abnormality of epiphysis morphology (HPO)", + "anatomical structure", + "regulation of biosynthetic process", + "abnormal cellular process", + "renal system", + "Anal atresia (HPO)", + "Fetal pyelectasis (HPO)", + "Abnormality of upper limb epiphysis morphology (HPO)", + "Abnormal cellular phenotype (HPO)", + "Abnormality of limb bone morphology (HPO)", + "negative regulation of metabolic process", + "thoracic segment organ", + "protein-containing complex organization", + "cellular component organization", + "testis", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "negative regulation of biological process", + "agenesis of anatomical entity", ], }, { @@ -8688,866 +13459,1448 @@ def autocomplete_response(): "has_phenotype": [ "HP:0009777", "HP:0000957", - "HP:0002860", "HP:0000252", + "HP:0002984", "HP:0000581", "HP:0001510", - "HP:0002984", - "HP:0004322", + "HP:0001876", "HP:0000347", - "HP:0000028", "HP:0009778", - "HP:0000125", "HP:0000414", + "HP:0001903", "HP:0012745", "HP:0000085", + "HP:0003221", + "HP:0004322", "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0002860", "HP:0001045", - "HP:0001876", - "HP:0001903", - "HP:0003221", ], "has_phenotype_label": [ - "Absent thumb", - "Cafe-au-lait spot", - "Squamous cell carcinoma", - "Microcephaly", - "Blepharophimosis", - "Growth delay", - "Hypoplasia of the radius", - "Short stature", - "Micrognathia", - "Cryptorchidism", - "Short thumb", - "Pelvic kidney", - "Bulbous nose", - "Short palpebral fissure", - "Horseshoe kidney", - "Hearing impairment", - "Vitiligo", - "Pancytopenia", - "Anemia", - "Chromosomal breakage induced by crosslinking agents", + "Absent thumb (HPO)", + "Cafe-au-lait spot (HPO)", + "Microcephaly (HPO)", + "Hypoplasia of the radius (HPO)", + "Blepharophimosis (HPO)", + "Growth delay (HPO)", + "Pancytopenia (HPO)", + "Micrognathia (HPO)", + "Short thumb (HPO)", + "Bulbous nose (HPO)", + "Anemia (HPO)", + "Short palpebral fissure (HPO)", + "Horseshoe kidney (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Short stature (HPO)", + "Hearing impairment (HPO)", + "Cryptorchidism (HPO)", + "Pelvic kidney (HPO)", + "Squamous cell carcinoma (HPO)", + "Vitiligo (HPO)", ], "has_phenotype_count": 20, "has_phenotype_closure": [ - "UPHENO:0050116", - "HP:0001939", - "HP:0011017", - "UPHENO:0050021", - "UPHENO:0049990", - "HP:0003220", - "UPHENO:0049748", - "UPHENO:0050113", - "HP:0003221", - "HP:0012130", - "HP:0001877", - "HP:0001903", - "HP:0012145", - "UPHENO:0086049", - "HP:0001871", - "HP:0001872", - "UPHENO:0084928", - "UPHENO:0085195", - "UPHENO:0085302", - "HP:0032251", - "UPHENO:0087339", - "HP:0011893", - "UPHENO:0084987", - "HP:0002715", - "UPHENO:0085984", - "UPHENO:0076675", - "UPHENO:0002948", - "UPHENO:0085371", - "UPHENO:0049873", - "HP:0005561", - "HP:0011873", - "UPHENO:0087355", - "UPHENO:0086173", - "UPHENO:0085070", - "HP:0020047", - "HP:0000598", - "UPHENO:0052231", - "HP:0011875", - "UPHENO:0002903", - "UPHENO:0005518", - "UPHENO:0050620", - "HP:0000365", - "UPHENO:0052970", - "UPHENO:0082129", - "HP:0010987", - "UPHENO:0076941", - "HP:0000085", - "UPHENO:0088168", - "UPHENO:0087430", - "UPHENO:0065599", - "UPHENO:0084715", - "HP:0000436", - "HP:0000414", - "HP:0100542", - "UPHENO:0085344", - "UPHENO:0076779", - "HP:0000079", - "UPHENO:0063722", - "UPHENO:0053588", - "UPHENO:0001072", - "HP:0000086", - "HP:0012210", - "HP:0001881", - "UPHENO:0075902", - "UPHENO:0046624", - "HP:0009381", - "HP:0000812", + "HP:0001045", + "HP:0002664", + "UBERON:0005156", + "GO:0003006", + "GO:0048609", + "GO:0000003", + "HP:0012243", "UPHENO:0053580", - "UPHENO:0005651", - "UPHENO:0002598", - "UPHENO:0041226", - "UPHENO:0086023", - "UPHENO:0078729", - "UPHENO:0049985", "UPHENO:0050101", - "HP:0010935", - "UPHENO:0049940", - "HP:0011927", - "UPHENO:0052778", + "HP:0000811", + "UBERON:0003135", + "UBERON:0003101", "UPHENO:0002597", - "UPHENO:0085194", - "UPHENO:0003055", - "UPHENO:0077426", - "HP:0000080", + "UPHENO:0050108", + "UPHENO:0002371", + "UBERON:0003133", + "UPHENO:0049985", + "UPHENO:0002599", + "CL:0000015", + "GO:0032502", + "GO:0022414", + "HP:0000025", + "HP:0000022", + "UBERON:0000990", + "GO:0007283", + "UBERON:0004053", + "UBERON:0004054", + "UPHENO:0049970", + "UBERON:0000473", + "CL:0000413", + "UPHENO:0081755", + "UBERON:0000079", + "CL:0000039", + "UPHENO:0078729", + "UPHENO:0021561", + "GO:0003008", + "GO:0007605", + "CL:0000586", + "HP:0000598", + "UPHENO:0002240", "HP:0012874", + "GO:0007600", + "GO:0050877", "UPHENO:0082875", - "UPHENO:0053644", - "HP:0012243", - "UPHENO:0081755", + "UPHENO:0052970", + "GO:0032504", + "UPHENO:0052231", + "HP:0031704", + "UPHENO:0005518", + "UBERON:0001690", + "UBERON:0002105", + "UPHENO:0080351", + "GO:0031049", + "GO:0050789", + "GO:0071840", + "UPHENO:0049873", + "HP:0010461", + "GO:0010468", + "GO:0010558", + "HP:0001939", + "UPHENO:0049700", + "GO:0060255", + "GO:0009892", + "GO:0043933", + "GO:0008152", + "GO:0009987", + "UPHENO:0050113", + "UPHENO:0050121", + "GO:0010556", + "HP:0000035", + "GO:0031326", + "GO:0031324", + "GO:0019222", + "GO:0040029", + "HP:0004322", + "GO:0010629", + "GO:0006338", + "UPHENO:0002803", + "UBERON:0002100", + "UBERON:0002417", + "UPHENO:0002832", + "HP:0000365", + "HP:0012210", + "UPHENO:0002595", + "UPHENO:0041821", + "UPHENO:0080300", + "UBERON:0009569", + "HP:0100542", + "UPHENO:0082129", + "UPHENO:0019487", + "UPHENO:0082444", + "UPHENO:0050620", + "UBERON:0004122", + "UBERON:8450002", + "UPHENO:0075902", "UPHENO:0041629", - "UPHENO:0080382", - "UPHENO:0087427", - "UPHENO:0002332", + "UPHENO:0041075", + "UPHENO:0076779", + "HP:0001903", + "BFO:0000141", + "HP:0000366", + "HP:0000436", + "UPHENO:0065599", + "GO:0007276", + "UBERON:0007827", + "UPHENO:0002837", + "UBERON:0006983", + "UBERON:0000916", + "HP:0010938", + "UPHENO:0021517", + "UPHENO:0002907", + "UPHENO:0046411", + "UPHENO:0020795", + "HP:0011927", "HP:0008669", - "HP:0000078", - "UPHENO:0084727", - "UPHENO:0053298", - "UPHENO:0085874", - "HP:0000027", - "HP:0002060", - "UPHENO:0054567", - "UPHENO:0076718", - "UPHENO:0075220", - "UPHENO:0069254", - "UPHENO:0080200", - "UPHENO:0081566", - "UPHENO:0084761", - "HP:0003026", - "UPHENO:0085873", - "HP:0000234", - "HP:0025461", - "UPHENO:0076805", - "UPHENO:0087123", - "UPHENO:0081788", - "HP:0002860", - "UPHENO:0088162", - "HP:0000953", + "UPHENO:0019615", + "HP:0009381", + "UPHENO:0046624", + "UBERON:0003457", + "UBERON:0004756", + "UPHENO:0020950", + "HP:0034261", + "UBERON:0013765", + "UBERON:0000489", + "UPHENO:0080165", + "HP:0000119", + "UPHENO:0084457", + "HP:0009118", + "UPHENO:0080087", + "UBERON:0011158", + "GO:0050794", + "HP:0000153", + "HP:0031816", + "HP:0009122", + "UPHENO:0081141", "HP:0025033", - "UPHENO:0080300", - "UPHENO:0002896", - "UPHENO:0087907", - "HP:0006501", - "UPHENO:0075195", - "UPHENO:0087802", - "HP:0001000", - "UPHENO:0088170", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0086589", - "UPHENO:0076791", + "HP:0040012", + "UPHENO:0081314", + "UBERON:0011156", + "UBERON:0001684", + "UBERON:0001007", + "UPHENO:0081788", + "GO:0071824", + "UPHENO:0002642", + "UPHENO:0019661", + "UPHENO:0080352", + "UPHENO:0002828", + "UBERON:0010364", + "GO:0016043", + "GO:0009890", + "HP:0025031", + "UPHENO:0069249", + "UPHENO:0080382", + "UBERON:0007914", + "UBERON:0002514", + "UBERON:0011595", + "UPHENO:0005597", + "UPHENO:0002378", + "UBERON:0001710", + "UPHENO:0041465", + "UPHENO:0083646", + "HP:0000277", + "UPHENO:0076800", + "UPHENO:0019449", + "HP:0009116", + "CL:0000000", + "HP:0011875", + "GO:0031327", + "HP:0001872", + "CL:0000003", + "UBERON:0002193", + "HP:0020047", + "HP:0001876", + "CL:0001035", "HP:0011793", - "UPHENO:0080662", - "HP:0000957", + "CL:0002371", + "UBERON:0003113", + "HP:0002715", + "HP:0025354", + "GO:0019953", + "CL:0000764", "HP:0001873", - "HP:0001034", - "HP:0001574", - "HP:0007400", - "HP:0000001", - "UPHENO:0002635", - "UPHENO:0080377", - "HP:0011821", - "UPHENO:0080221", - "UPHENO:0003811", - "UPHENO:0082682", - "HP:0000032", - "UPHENO:0022529", - "UPHENO:0076724", - "HP:0040195", - "UPHENO:0001005", - "UPHENO:0078452", - "UPHENO:0006910", - "UPHENO:0087950", - "UPHENO:0021517", - "UPHENO:0002964", - "UPHENO:0050845", - "UPHENO:0034770", - "HP:0009121", - "UPHENO:0081424", - "UPHENO:0011498", - "UPHENO:0002378", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0084763", - "UPHENO:0050008", - "UPHENO:0008523", - "UPHENO:0087518", - "HP:0011297", - "UPHENO:0046707", - "UPHENO:0087472", - "UPHENO:0005016", - "HP:0000119", - "HP:0000152", - "UPHENO:0074584", - "UPHENO:0081790", - "HP:0012733", - "HP:0000077", - "UPHENO:0002905", + "UBERON:0005173", + "HP:0011893", + "CL:0000081", + "HP:0032251", + "UPHENO:0004459", + "HP:0000953", + "CL:0000548", + "CL:0000738", + "UPHENO:0075878", + "CL:0000232", + "UBERON:0000463", "UPHENO:0001003", - "HP:0009118", - "UPHENO:0080099", - "UPHENO:0076739", - "HP:0007364", - "UPHENO:0081786", - "UPHENO:0076702", - "UPHENO:0002708", - "UPHENO:0086700", - "HP:0000924", - "UPHENO:0021791", - "UPHENO:0081435", - "HP:0040064", - "HP:0001167", - "UPHENO:0026506", - "HP:0008069", - "UPHENO:0085189", - "UPHENO:0021561", - "HP:0000315", - "HP:0000240", - "UPHENO:0054970", - "UPHENO:0026028", - "PATO:0000001", - "HP:0000153", - "HP:0006265", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0085875", + "CL:0000225", + "HP:0000078", + "GO:0006325", + "HP:0009599", + "CL:0002242", + "GO:0009889", + "CL:0000219", + "CL:0000408", + "UBERON:0013522", + "CL:0000329", "HP:0011355", - "HP:0009116", - "HP:0009115", - "UPHENO:0087501", - "UPHENO:0080126", + "HP:0001510", + "UBERON:0001711", + "UBERON:0004708", + "CL:0000457", + "UPHENO:0084715", + "HP:0005918", + "UBERON:0000161", "UPHENO:0076799", - "UPHENO:0080187", - "UPHENO:0020584", - "HP:0002813", - "HP:0012443", - "UPHENO:0026181", - "HP:0005922", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0049367", - "UPHENO:0085068", - "UPHENO:0009382", - "UPHENO:0026183", - "HP:0040068", - "HP:0031704", - "HP:0040070", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0059829", - "BFO:0000020", - "UPHENO:0074589", - "HP:0200007", - "UPHENO:0086045", - "UPHENO:0076727", - "UPHENO:0076703", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0002595", - "HP:0009777", - "UPHENO:0076723", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0030791", - "UPHENO:0088186", - "HP:0009815", - "UPHENO:0004459", - "UPHENO:0054957", - "UPHENO:0015280", - "UPHENO:0046540", - "HP:0040012", - "UPHENO:0086005", - "UPHENO:0081466", - "UPHENO:0076740", - "UPHENO:0002764", - "UPHENO:0084448", - "HP:0009824", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0086633", - "HP:0045060", - "HP:0034261", + "UBERON:0000020", + "CL:0000763", + "HP:0005561", + "UBERON:5006048", + "UPHENO:0054577", + "UBERON:0001444", + "GO:0010605", "HP:0032039", - "HP:0001045", - "HP:0009601", + "UPHENO:0046753", + "UPHENO:0075997", + "UBERON:0001819", + "CL:0002092", + "HP:0000315", + "UBERON:0005913", + "UBERON:0003466", + "UPHENO:0076718", + "UBERON:0010323", + "UPHENO:0000543", + "UBERON:0002471", + "UPHENO:0081792", + "UPHENO:0075944", + "HP:0005773", + "UPHENO:0069294", + "UBERON:0011584", + "UBERON:0001032", + "UPHENO:0075198", + "UPHENO:0020869", + "HP:0006503", + "HP:0001871", "HP:0001507", - "HP:0002977", - "UPHENO:0088116", - "UPHENO:0086172", - "HP:0000707", - "HP:0001876", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0080352", - "UPHENO:0049700", - "HP:0005927", - "HP:0000125", - "HP:0002817", + "UPHENO:0081091", + "HP:0045009", + "UBERON:0004176", + "UBERON:0002428", + "UPHENO:0046538", + "UBERON:0002416", + "UPHENO:0031839", + "UBERON:0015203", + "HP:0006501", + "UPHENO:0084447", + "PATO:0000001", + "UPHENO:0049874", + "UPHENO:0012541", + "CL:0000019", + "HP:0009821", + "UBERON:0003103", + "UPHENO:0068971", + "UPHENO:0081313", + "HP:0011017", + "HP:0012745", + "UPHENO:0002764", + "HP:0040073", + "HP:0002973", + "UBERON:0012128", + "HP:0002818", + "HP:0000812", + "HP:0009778", "HP:0002984", + "UBERON:0002386", + "UPHENO:0012274", + "UPHENO:0002719", + "HP:0011821", + "HP:0003026", + "UPHENO:0002751", + "UBERON:0002405", + "HP:0001000", + "UPHENO:0046540", + "UBERON:0001017", "HP:0001172", - "HP:0000118", - "UPHENO:0080165", - "UPHENO:0079876", - "UPHENO:0002830", - "HP:0011844", - "UPHENO:0080079", - "UPHENO:0002907", - "UPHENO:0074575", + "HP:0000240", + "HP:0000707", + "UPHENO:0002910", + "HP:0009121", "HP:0002011", - "UPHENO:0084766", - "HP:0001155", - "HP:0000252", - "UPHENO:0050625", - "HP:0010461", + "HP:0009815", + "HP:0040195", + "HP:0012145", + "GO:0031052", + "UBERON:0013702", + "HP:0010987", + "UBERON:0011143", + "UBERON:0013701", + "UBERON:0011676", + "UPHENO:0049367", + "UBERON:0011250", + "UPHENO:0022529", + "UPHENO:0002727", + "UBERON:0000047", + "UPHENO:0026023", "HP:0000929", + "UBERON:0010703", + "UBERON:0015023", + "UBERON:0003607", + "UPHENO:0076805", + "GO:0005623", + "HP:0025461", "UPHENO:0004523", - "HP:0000364", - "BFO:0000002", + "UPHENO:0002830", + "UBERON:0002097", + "HP:0007364", + "HP:0000234", + "HP:0100547", + "UBERON:0000991", + "GO:0048519", + "UBERON:0034929", + "HP:0040070", + "UBERON:0002090", + "UBERON:0011138", + "UBERON:0010314", + "HP:0002060", + "HP:0000271", + "NCBITaxon:6072", + "HP:0002860", + "UBERON:0004768", + "UBERON:0000073", + "UBERON:0010688", + "UBERON:0004111", + "UBERON:0001708", + "UBERON:0000165", + "UBERON:0003129", + "HP:0000027", + "UPHENO:0081566", + "HP:0012733", + "UPHENO:0081435", + "UPHENO:0080221", + "HP:0011121", + "UPHENO:0076702", + "HP:0011961", + "UPHENO:0003811", + "UPHENO:0001005", + "UPHENO:0054957", + "UPHENO:0021284", + "UPHENO:0050008", + "UPHENO:0081424", + "UPHENO:0074572", + "UPHENO:0076739", + "CL:0000458", + "HP:0030669", + "GO:0048523", + "UPHENO:0054970", + "UBERON:0002495", + "UPHENO:0080377", + "HP:0000957", + "HP:0005922", + "UBERON:0001016", + "UPHENO:0059829", + "HP:0200007", + "HP:0000152", + "UBERON:0001890", + "HP:0001034", "HP:0012639", - "UPHENO:0076761", - "UPHENO:0081204", - "UPHENO:0041465", + "HP:0012443", + "HP:0007400", + "NCBITaxon:33154", + "UPHENO:0005433", + "BFO:0000002", + "UPHENO:0082682", + "HP:0000951", + "UBERON:0012358", + "GO:0050954", + "UBERON:0007842", + "UBERON:0004456", + "UBERON:0001008", + "UBERON:0012357", + "UBERON:0001437", + "UBERON:5101463", + "HP:0008050", + "UBERON:0006048", + "UBERON:0000062", + "UPHENO:0003055", + "UPHENO:0075220", + "UPHENO:0000541", + "UPHENO:0084448", "UPHENO:0046505", - "UPHENO:0001002", - "UPHENO:0087924", - "HP:0030669", - "UPHENO:0012541", - "UPHENO:0002910", + "UPHENO:0020888", + "UBERON:0001968", + "UPHENO:0084444", + "UPHENO:0081451", + "HP:0009686", + "GO:0031323", + "UBERON:0011249", + "UBERON:0019231", + "HP:0002977", + "UBERON:5002389", + "CL:0000300", + "UBERON:0015025", + "UPHENO:0053588", + "UPHENO:0005651", + "UBERON:0002102", + "HP:0005105", + "UBERON:0004375", + "UBERON:0002390", + "UPHENO:0079876", + "UBERON:0034923", + "GO:0043473", + "GO:0008150", + "UBERON:0015061", + "HP:0001574", + "UBERON:0011582", + "UBERON:0011137", + "UBERON:0000064", + "UBERON:0004446", "HP:0040072", - "UPHENO:0046753", - "UPHENO:0087089", - "UPHENO:0003085", - "HP:0012745", - "UPHENO:0041821", - "HP:0045025", - "HP:0000271", - "HP:0010938", - "HP:0009778", + "UBERON:0003278", + "UBERON:0002204", + "UPHENO:0076724", + "UPHENO:0080662", + "UBERON:0001436", + "UPHENO:0021791", + "UBERON:0000955", + "UBERON:0004121", + "UPHENO:0081786", + "HP:0006265", + "HP:0000079", + "HP:0001881", + "RO:0002577", + "UPHENO:0084727", + "UBERON:0012360", + "UPHENO:0081581", + "UPHENO:0076941", + "UBERON:0015001", + "UPHENO:0050021", + "UPHENO:0002964", + "UBERON:0002544", "HP:0006496", - "UPHENO:0075878", - "UPHENO:0020888", - "UPHENO:0075997", - "UPHENO:0081314", + "HP:0005927", + "UPHENO:0049587", + "UBERON:0002470", + "UPHENO:0020220", + "UPHENO:0005016", + "UPHENO:0076761", + "UBERON:0008907", + "HP:0000924", + "UPHENO:0052778", + "UPHENO:0079872", + "UPHENO:0060026", + "UBERON:0015063", + "HP:0000118", + "UBERON:0004921", + "UBERON:0001456", + "UPHENO:0076791", + "UBERON:0001893", + "UPHENO:0080325", + "UPHENO:0020853", + "UBERON:0004249", + "UBERON:0010758", + "UBERON:0002199", + "UBERON:5002544", + "HP:0003220", + "UBERON:0000026", + "UBERON:0000075", + "UPHENO:0020584", + "UPHENO:0021802", + "UPHENO:0021800", + "UBERON:0003606", + "UPHENO:0049940", + "NCBITaxon:1", + "UPHENO:0008523", + "UBERON:0000970", + "HP:0005924", + "UPHENO:0006910", + "UPHENO:0081790", + "HP:0009777", + "HP:0005920", + "HP:0010935", + "UBERON:0002398", + "HP:0000347", + "UPHENO:0009382", + "UPHENO:0009327", + "UPHENO:0009300", + "UPHENO:0001072", + "UBERON:0000025", + "HP:0003839", + "UPHENO:0074575", + "HP:0030791", + "UPHENO:0026028", + "HP:0033127", + "UBERON:0015024", + "UBERON:0001463", + "UBERON:5106048", + "UBERON:0035639", + "UPHENO:0076754", + "UBERON:0004120", + "UBERON:0000019", + "UPHENO:0002948", + "UPHENO:0002708", + "UBERON:0002389", + "HP:0000086", + "UBERON:0006717", + "UBERON:0010363", + "UPHENO:0076740", + "HP:0010577", + "UPHENO:0076803", + "UBERON:0003221", + "OBI:0100026", "HP:0009826", - "UPHENO:0075198", - "UPHENO:0031839", - "UPHENO:0020950", - "UPHENO:0054577", - "UPHENO:0046411", - "HP:0000277", - "UPHENO:0068971", - "HP:0008050", - "UPHENO:0083646", - "UPHENO:0049874", - "UPHENO:0086201", - "HP:0001510", - "UPHENO:0000543", - "HP:0005105", - "UPHENO:0000541", - "HP:0000366", - "HP:0005773", + "UBERON:0006058", + "HP:0000077", + "UBERON:0002371", "UPHENO:0080114", - "UPHENO:0005433", - "UPHENO:0005597", - "UPHENO:0081792", - "HP:0011314", - "UPHENO:0085118", - "UPHENO:0012274", - "UPHENO:0081313", - "UPHENO:0079872", - "UPHENO:0002751", - "UPHENO:0081091", - "UPHENO:0087510", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0000002", - "HP:0009821", - "HP:0025354", - "HP:0006503", - "HP:0002818", - "UPHENO:0088166", - "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0086956", - "HP:0002973", - "HP:0011121", - "UPHENO:0069294", - "UPHENO:0046538", - "UPHENO:0082444", + "UBERON:0001474", + "UBERON:0010912", + "UPHENO:0049701", + "UPHENO:0053298", + "HP:0001877", + "UPHENO:0011498", + "HP:0011844", + "HP:0000414", + "HP:0045025", + "UBERON:0034921", + "HP:0008069", + "UPHENO:0069254", + "UBERON:0008785", + "UBERON:0004710", + "UPHENO:0076692", + "UBERON:0002113", + "UBERON:0015021", + "UBERON:5102544", + "UPHENO:0080200", + "HP:0011873", + "HP:0005930", + "UPHENO:0075696", + "HP:0006505", + "HP:0002813", + "UBERON:0005944", + "HP:0000125", + "UPHENO:0008668", + "HP:0000080", + "HP:0010228", + "PR:000050567", "UPHENO:0020041", - "UPHENO:0086198", - "HP:0100547", + "HP:0045060", + "HP:0009824", + "HP:0040068", + "UBERON:0002104", + "HP:0003221", + "BFO:0000004", + "UBERON:0012139", + "UBERON:0000481", + "UBERON:0012475", + "UPHENO:0027319", + "UBERON:0004765", + "UBERON:0005177", + "UBERON:0002529", + "GO:0040007", + "GO:0065007", + "UBERON:0010543", + "UPHENO:0002833", + "UBERON:0010707", + "UBERON:0004381", + "UBERON:0012140", + "UPHENO:0002598", + "CL:0000151", + "HP:0011297", + "GO:0032501", + "UBERON:0005451", + "HP:0001155", + "UBERON:0012151", + "UBERON:0001434", + "UPHENO:0002536", + "UBERON:0005172", + "UPHENO:0027467", + "UBERON:0007272", + "BFO:0000001", + "UBERON:0002616", + "BFO:0000003", + "UPHENO:0026181", + "UBERON:0000004", + "UPHENO:0026183", + "NCBITaxon:33208", + "UPHENO:0027515", + "UBERON:0004088", + "UBERON:0000061", + "HP:0009380", + "UBERON:0000465", + "UBERON:0001440", + "UBERON:0001062", + "UPHENO:0081423", + "UBERON:0010712", + "UBERON:0010538", + "UPHENO:0041226", + "UPHENO:0046707", + "UBERON:0001555", + "UPHENO:0026506", + "UPHENO:0002635", + "UPHENO:0076723", + "UBERON:0002268", + "UBERON:0005897", + "UBERON:5102389", + "UBERON:0003620", + "UBERON:0002101", + "UPHENO:0054567", + "BFO:0000040", + "UPHENO:0080099", + "CL:0000233", + "HP:0000028", + "UBERON:0015212", + "UPHENO:0002903", + "UPHENO:0002332", + "UPHENO:0076727", + "UBERON:0001442", + "UBERON:0010740", + "UBERON:0003462", + "UBERON:0001423", + "UBERON:0000153", + "UBERON:0002513", + "UBERON:0007811", + "UPHENO:0080187", + "UPHENO:0020651", + "HP:0002692", + "HP:0000001", + "UBERON:0000475", + "UPHENO:0001001", + "UBERON:0010741", + "UBERON:0005055", + "BFO:0000020", + "HP:0000085", + "UBERON:0019221", + "UPHENO:0034770", + "UBERON:0012150", + "UBERON:0012354", + "UPHENO:0075159", + "UBERON:0034944", + "UBERON:0010313", + "HP:0040064", + "HP:0009115", + "UBERON:0004175", + "UPHENO:0074584", + "UBERON:0010000", + "UPHENO:0018390", + "UBERON:0010708", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0001460", + "UPHENO:0075195", + "GO:0048232", + "UPHENO:0081204", + "HP:0012130", + "UBERON:0005881", + "HP:0000492", + "UPHENO:0081466", + "UPHENO:0076703", + "HP:0000032", + "UBERON:0004288", + "UBERON:0000467", "UPHENO:0002880", - "UPHENO:0075159", - "UPHENO:0002642", - "UPHENO:0080325", - "UPHENO:0081423", - "UPHENO:0002833", - "HP:0004322", - "HP:0031816", - "UPHENO:0076800", - "UPHENO:0081141", - "HP:0000951", - "UPHENO:0084457", + "HP:0011314", + "UPHENO:0002844", + "UPHENO:0053644", + "HP:0009601", + "HP:0000364", + "UPHENO:0020832", + "UBERON:0002091", + "UBERON:0003460", + "UBERON:0004742", + "UBERON:0004387", + "NCBITaxon:131567", + "UBERON:0000479", + "UPHENO:0027575", + "UBERON:0011159", + "UBERON:0011216", + "UBERON:0008962", + "UPHENO:0003085", + "CL:0000988", + "HP:0001167", + "UPHENO:0002905", + "UPHENO:0049990", + "UPHENO:0084446", + "HP:0002817", + "UBERON:0034925", + "CL:0000255", + "HP:0000002", + "HP:0011842", + "UPHENO:0015280", "HP:0000581", - "UPHENO:0002828", - "UPHENO:0080351", - "HP:0009122", - "UPHENO:0080087", - "UPHENO:0069249", - "HP:0000492", - "UPHENO:0086595", - "UPHENO:0050121", - "UPHENO:0074572", - "HP:0002692", - "HP:0000347", - "HP:0025031", - "HP:0000811", - "UPHENO:0076803", - "HP:0000035", - "UPHENO:0087973", - "HP:0000028", - "UPHENO:0049701", - "UPHENO:0085144", - "UPHENO:0041075", - "UPHENO:0050108", - "UPHENO:0049970", - "UPHENO:0087846", - "UPHENO:0087006", - "HP:0011961", - "UPHENO:0002240", + "HP:0000252", + "UBERON:0012141", + "UPHENO:0080126", + "UPHENO:0001002", + "UPHENO:0078606", + "UPHENO:0002896", + "BFO:0000015", + "UPHENO:0080079", + "UBERON:5001463", "UPHENO:0052178", - "HP:0000025", + "NCBITaxon:2759", + "UPHENO:0050625", + "UPHENO:0074589", + "UBERON:0000468", ], "has_phenotype_closure_label": [ - "abnormal cellular process", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "abnormal erythrocyte morphology", - "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal hematopoietic system", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "Abnormal leukocyte count", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "Pancytopenia", - "abnormal platelet", - "Anemia", - "abnormal bone marrow cell", - "Vitiligo", - "Abnormal platelet count", + "Neoplasm of the skin (HPO)", + "Ectopic kidney (HPO)", + "male organism", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "Abnormality of the genital system (HPO)", + "decreased qualitatively reproductive process", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "external male genitalia", + "Abnormal testis morphology (HPO)", + "abnormal developmental process", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "external genitalia", + "internal genitalia", + "abnormal reproductive system morphology", + "semen", + "decreased developmental process", + "abnormal external genitalia", + "abnormal location of anatomical entity", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal developmental process involved in reproduction", + "abnormally localised testis", + "changed developmental process rate", + "abnormal male reproductive system", + "abnormal gamete generation", + "abnormality of internal male genitalia physiology", + "decreased qualitatively biological_process", + "reproductive system", + "abnormal testis morphology", "abnormal sensory perception of sound", - "Hearing impairment", - "Hearing abnormality", - "Abnormality of the ear", - "Abnormal myeloid cell morphology", - "Abnormal ear physiology", + "Abnormal ear physiology (HPO)", + "sensory perception of mechanical stimulus", + "multicellular organismal process", "abnormality of ear physiology", + "decreased sensory perception of sound", + "Hearing impairment (HPO)", + "ear", + "system process", + "abnormal size of multicellular organism", + "decreased size of the multicellular organism", + "abnormality of anatomical entity height", + "Vitiligo (HPO)", + "abnormality of multicellular organism height", + "Abnormal cellular physiology (HPO)", + "Abnormality of metabolism/homeostasis (HPO)", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "regulation of cellular process", + "negative regulation of biological process", + "abnormally localised kidney", + "epigenetic regulation of gene expression", + "negative regulation of gene expression", + "metabolic process", + "cellular process", + "abnormal programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "protein-containing complex organization", + "cellular component organization", + "regulation of biological process", + "Abnormal external genitalia (HPO)", + "Abnormality of the kidney (HPO)", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "renal system", + "excretory system", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "concave 3-D shape anatomical entity", "shape anatomical entity in independent continuant", - "U-shaped kidney", - "3-D shape anatomical entity", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", + "cavitated compound organ", + "abnormal ear", + "abdominal segment element", "shape kidney", - "3-D shape anatomical entity in independent continuant", - "U-shaped anatomical entity", - "concave 3-D shape anatomical entity", - "shape anatomical entity", - "increased size of the anatomical entity in independent continuant", - "Abnormal external nose morphology", - "abnormally increased volume of anatomical entity", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "Bulbous nose", - "Abnormality of the nose", - "Abnormality of the urinary system", - "abnormally localised kidney", - "Abnormality of the kidney", - "abnormal renal system morphology", + "abdomen", + "abnormal kidney morphology", "abnormal upper urinary tract", - "Ectopic kidney", + "kidney", "abnormal renal system", - "Abnormal cellular physiology", - "Pelvic kidney", + "Abnormality of the nose (HPO)", + "increased size of the anatomical entity", + "negative regulation of macromolecule metabolic process", + "abnormally increased volume of nose", + "Abnormal nasal morphology (HPO)", + "abnormal multicellular organismal reproductive process", + "Abnormality of chromosome stability (HPO)", + "anatomical point", + "external soft tissue zone", + "Abnormality of the nasal tip (HPO)", + "abnormal cellular process", + "olfactory organ", + "abnormal nose tip", + "abnormally increased volume of anatomical entity", + "Bulbous nose (HPO)", + "nose", + "Squamous cell carcinoma (HPO)", + "decreased length of manual digit", "decreased length of digit", - "Short finger", + "Short thumb (HPO)", + "Abnormality of the external nose (HPO)", "decreased length of manual digit 1", - "Short digit", - "decreased length of manual digit", - "Abnormal immune system morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "abnormal genitourinary system", - "decreased developmental process", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormal developmental process involved in reproduction", - "Abnormal external genitalia", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "abnormally localised anatomical entity", - "abnormal multicellular organismal reproductive process", - "Abnormal male reproductive system physiology", - "abnormal cell", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal male reproductive system", - "abnormality of internal male genitalia physiology", - "abnormal spermatogenesis", - "Abnormal testis morphology", - "Cryptorchidism", - "Abnormal skull morphology", - "Abnormality of brain morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplasia or hypoplasia of telencephalon", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", - "abnormal nervous system", - "Neoplasm", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormality of thrombocytes", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Decreased head circumference", - "delayed growth", - "Aplasia/Hypoplasia of the cerebrum", - "Neoplasm of the skin", - "Squamous cell carcinoma", - "abnormal biological_process in independent continuant", - "Abnormality of the nervous system", - "Abnormality of skin pigmentation", + "tube", + "digestive system element", + "Abnormality of the digestive system (HPO)", + "dermal bone", + "jaw skeleton", + "facial bone", + "Chromosome breakage (HPO)", + "aplasia or hypoplasia of skull", + "subdivision of tube", + "digestive system", + "Neoplasm (HPO)", + "Pelvic kidney (HPO)", + "anatomical entity hypoplasia in face", + "mouth", + "bone of lower jaw", + "primary subdivision of skull", + "abnormal external male genitalia", + "digestive tract", + "head bone", + "bone element hypoplasia in face", + "abnormal digestive system", + "subdivision of digestive tract", + "immaterial entity", + "dermal skeleton", + "Aplasia/Hypoplasia of facial bones (HPO)", + "abnormal sensory perception", + "Hypoplastic facial bones (HPO)", + "Abnormality of the mouth (HPO)", + "reproductive organ", + "Abnormal oral morphology (HPO)", + "jaw region", + "neural crest-derived structure", + "dentary", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "facial bone hypoplasia", + "Abnormality of digestive system morphology (HPO)", + "abnormal mouth morphology", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "aplasia or hypoplasia of mandible", + "decreased qualitatively sensory perception of mechanical stimulus", + "native cell", + "hemolymphoid system", + "Abnormality of blood and blood-forming tissues (HPO)", + "Pancytopenia (HPO)", + "sexual reproduction", + "anucleate cell", + "abnormal male reproductive organ morphology", + "bone marrow", + "secretory cell", + "nucleate cell", + "oxygen accumulating cell", + "Cryptorchidism (HPO)", + "Abnormal immune system morphology (HPO)", + "Short finger (HPO)", + "eukaryotic cell", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Abnormal leukocyte morphology (HPO)", + "erythroid lineage cell", + "blood cell", + "hematopoietic cell", + "abnormal hematopoietic system", + "Hearing abnormality (HPO)", + "platelet", + "biogenic amine secreting cell", + "Abnormality of reproductive system physiology (HPO)", + "abnormal limb bone morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Abnormality of the orbital region (HPO)", + "erythrocyte", + "leukocyte", + "abnormal immune system", + "decreased biological_process", + "serotonin secreting cell", + "growth", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "Growth delay (HPO)", + "radius bone hypoplasia", + "Growth abnormality (HPO)", + "abnormal orbital region", + "bone marrow cell", + "orifice", + "Abnormal ocular adnexa morphology (HPO)", + "decreased length of palpebral fissure", + "entire sense organ system", + "abnormal shape of continuant", + "Abnormality of the ocular adnexa (HPO)", + "Abnormality of the nervous system (HPO)", "abnormal ocular adnexa morphology", - "Abnormal axial skeleton morphology", + "visual system", + "orbital region", + "Short palpebral fissure (HPO)", + "paired limb/fin segment", + "Abnormal size of the palpebral fissures (HPO)", + "Abnormality of epiphysis morphology (HPO)", + "subdivision of head", + "Short stature (HPO)", + "camera-type eye", + "aplastic anatomical entity", + "abnormal face", + "eyelid", + "Blepharophimosis (HPO)", + "Abnormality of the upper urinary tract (HPO)", + "bone of craniocervical region", + "abnormal eyelid morphology", "decreased size of the anatomical entity in the pectoral complex", - "Abnormal facial skeleton morphology", - "Abnormal skeletal morphology", - "abnormal biological_process", - "abnormal integument", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "abnormal myeloid cell morphology", - "increased biological_process", + "skeleton of lower jaw", + "abnormal radius bone morphology", + "sperm", + "Aplasia/Hypoplasia of the radius (HPO)", + "Abnormality of forearm bone (HPO)", + "decreased length of forelimb zeugopod bone", + "Abnormality of the immune system (HPO)", + "Narrow palpebral fissure (HPO)", + "postcranial axial skeleton", + "Abnormality of the forearm (HPO)", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "Decreased head circumference (HPO)", + "abnormal forelimb zeugopod bone", + "quality", + "forelimb zeugopod bone", + "Abnormal spermatogenesis (HPO)", + "Forearm undergrowth (HPO)", + "arm bone", + "radius bone", + "disconnected anatomical group", + "Short long bone (HPO)", + "decreased length of long bone", + "Short forearm (HPO)", + "abnormal long bone morphology", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "forelimb zeugopod bone hypoplasia", + "sensory perception", "abnormal digestive system morphology", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "decreased width of the anatomical entity in independent continuant", - "Cafe-au-lait spot", - "Macule", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "Hyperpigmentation of the skin", - "abnormality of multicellular organism height", - "abnormal digit morphology", - "Abnormal forebrain morphology", + "decreased length of anatomical entity", + "zeugopod", + "abnormal anatomical entity morphology in the brain", + "manual digit 1 plus metapodial segment", + "telencephalon", + "Opisthokonta", "absent anatomical entity", - "abnormal forebrain morphology", - "Abnormality of the genitourinary system", - "Abnormality of the head", - "continuant", - "abnormal craniocervical region morphology", - "abnormal appendicular skeleton morphology", - "abnormal skull morphology", - "Aplasia/Hypoplasia of fingers", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormally decreased number of myeloid cell", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "aplasia or hypoplasia of manual digit", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "Abnormality of the skin", - "agenesis of anatomical entity", - "increased qualitatively biological_process", - "All", - "Abnormal upper limb bone morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "Aplasia/Hypoplasia of the thumb", - "abnormal blood cell", - "decreased length of palpebral fissure", - "abnormal face morphology", - "Limb undergrowth", - "Abnormal size of the palpebral fissures", - "Short palpebral fissure", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal craniocervical region", - "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "abnormally localised testis", - "anatomical entity hypoplasia in face", - "abnormal digit", - "Abnormal appendicular skeleton morphology", - "abnormal external nose morphology", - "Abnormality of body height", - "increased pigmentation", - "abnormal anatomical entity morphology in the appendage girdle complex", - "aplasia or hypoplasia of mandible", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "Aplasia/Hypoplasia of facial bones", - "Abnormality of the hand", - "absent digit", - "Abnormal cell morphology", - "phenotype", - "abnormal male reproductive system morphology", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal manual digit morphology in the independent continuant", - "abnormal limb", - "Abnormality of digestive system morphology", - "abnormal pigmentation", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", + "central nervous system", + "multi organ part structure", + "structure with developmental contribution from neural crest", + "abnormal telencephalon morphology", + "abnormal brain morphology", + "aplasia or hypoplasia of telencephalon", + "abnormal phalanx morphology", + "myeloid cell", + "cellular organisms", + "main body axis", + "aplasia or hypoplasia of radius bone", + "Azoospermia (HPO)", + "cranial skeletal system", + "delayed growth", + "organism", + "membrane bone", + "Abnormal nervous system morphology (HPO)", + "Abnormality of skull size (HPO)", + "vestibulo-auditory system", + "forelimb endochondral element", + "abnormal forelimb zeugopod bone morphology", + "nervous system process", + "Abnormal renal morphology (HPO)", + "body proper", + "Abnormal axial skeleton morphology (HPO)", + "abnormal size of anatomical entity", + "germ line cell", + "bone cell", + "shape anatomical entity", + "regional part of nervous system", + "digit 1", + "abnormal head", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "Hyperpigmentation of the skin (HPO)", + "head", + "multicellular organism reproduction", + "Metazoa", + "axial skeleton plus cranial skeleton", + "skeleton of manual digitopodium", + "axial skeletal system", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "Abnormal skull morphology (HPO)", + "anatomical entity hypoplasia", "decreased height of the multicellular organism", - "Short long bone", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "Short thumb", - "abnormal manual digit 1 morphology", - "mandible hypoplasia", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "subdivision of organism along main body axis", + "forebrain", + "Eukaryota", + "upper limb segment", + "Morphological central nervous system abnormality (HPO)", + "root", + "increased biological_process", + "abnormal central nervous system morphology", + "absent anatomical entity in the skeletal system", + "decreased width of the anatomical entity", + "changed biological_process rate in independent continuant", + "Abnormality of the palpebral fissures (HPO)", + "increased qualitatively biological_process in independent continuant", + "abnormally localised anatomical entity", + "non-connected functional system", + "Abnormal forearm bone morphology (HPO)", + "abnormal biological_process", + "multi-tissue structure", + "skin of body", + "Abnormality of the ear (HPO)", + "increased size of the anatomical entity in independent continuant", + "subdivision of skeleton", + "protein-containing material entity", + "biological_process", + "Neoplasm by anatomical site (HPO)", + "phalanx", + "Abnormality of head or neck (HPO)", + "reproductive process", + "abnormal pigmentation", + "pigmentation", + "abnormal size of palpebral fissure", + "Macule (HPO)", + "Abnormal internal genitalia (HPO)", + "abnormal growth", + "increased biological_process in skin of body", + "abnormal skin of body morphology", + "multicellular organismal reproductive process", + "Abnormal cell morphology (HPO)", + "Abnormality of the integument (HPO)", + "integumental system", + "abnormal pigmentation in independent continuant", "phenotype by ontology source", - "abnormally decreased number of hematopoietic cell", - "Abnormal thumb morphology", - "abnormal arm", - "abnormal number of anatomical enitites of type myeloid cell", + "cell", + "tissue", + "Abnormality of skin pigmentation (HPO)", + "increased qualitatively biological_process", + "abnormal metabolic process", + "changed biological_process rate", + "Irregular hyperpigmentation (HPO)", + "abnormal size of skull", + "Cafe-au-lait spot (HPO)", + "abnormal skull morphology", + "external nose", + "Localized skin lesion (HPO)", "absent anatomical entity in the forelimb", - "Horseshoe kidney", + "palpebral fissure", + "abnormal skin of body", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "process", + "abnormal integument", + "nose tip", + "skeletal element", + "abnormal kidney", + "Abnormal erythroid lineage cell morphology (HPO)", + "acropodial skeleton", + "abnormal internal genitalia", + "somatic cell", + "individual digit of digitopodial skeleton", + "anatomical entity", + "Upper limb undergrowth (HPO)", + "abnormal mouth", + "phalanx of manus", + "autopod bone", + "decreased length of anatomical entity in independent continuant", + "autopod endochondral element", + "skeleton of pectoral complex", + "skeleton of digitopodium", + "Abnormal facial skeleton morphology (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "Aplasia/Hypoplasia of the thumb (HPO)", "abnormality of reproductive system physiology", - "absent sperm", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "aplastic manual digit 1", - "decreased qualitatively sensory perception of sound", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormally decreased number of cell", - "abnormal palpebral fissure", - "anatomical entity hypoplasia", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "increased size of the anatomical entity", - "Abnormal nervous system morphology", - "abnormal limb bone", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "absent gamete", - "abnormal head morphology", + "regional part of brain", + "animal cell", + "decreased size of the anatomical entity", + "abnormally localised anatomical entity in independent continuant", + "musculoskeletal system", + "compound organ", + "autopod region", + "Abnormality of limb epiphysis morphology (HPO)", + "absent digit", + "Abnormality of the hand (HPO)", + "eye", + "Microcephaly (HPO)", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "gamete generation", + "Abnormality of skin morphology (HPO)", + "abnormal nose morphology", + "zone of bone organ", "absent anatomical entity in the limb", - "Abnormal mandible morphology", - "Abnormal digit morphology", - "abnormal anatomical entity morphology in the brain", - "Abnormality of limb bone", - "Abnormal spermatogenesis", - "Localized skin lesion", - "Abnormal hand morphology", - "quality", - "aplastic anatomical entity", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", + "trunk region element", + "pectoral complex", + "programmed DNA elimination by chromosome breakage", + "organism subdivision", + "Hypoplasia of the radius (HPO)", + "abnormal spermatogenesis", + "germ cell", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "segment of manus", "abnormal anatomical entity morphology in the independent continuant", + "anatomical conduit", + "mandible hypoplasia", + "skeleton of manus", + "aplasia or hypoplasia of manual digit 1", "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal sensory perception", - "abnormal manus", - "abnormal limb bone morphology", - "abnormal testis morphology", + "All (HPO)", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", + "zone of organ", + "lower jaw region", + "limb endochondral element", + "absent epiphysis of phalanx of manus in the phalanx of manus", "entity", - "aplasia or hypoplasia of manual digit 1", - "abnormal reproductive system", - "Abnormality of head or neck", - "abnormal limb morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "abnormal immune system morphology", - "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "increased qualitatively biological_process in independent continuant", - "Aplasia of the fingers", - "Abnormal finger morphology", - "Morphological central nervous system abnormality", + "aplasia or hypoplasia of manual digit", + "gamete", + "organ part", + "abnormal manus", + "brain", + "Abnormality of thumb epiphysis (HPO)", + "Short digit (HPO)", + "abnormal limb long bone morphology", + "regulation of macromolecule metabolic process", + "Abnormal mandible morphology (HPO)", + "continuant", + "aplastic manual digit 1", + "abnormal multicellular organism morphology", + "developmental process involved in reproduction", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "male germ cell", + "limb", + "lateral structure", + "arm", + "absent epiphysis in the independent continuant", + "endochondral bone", + "protein-DNA complex organization", + "organ", + "Aplasia of the fingers (HPO)", + "subdivision of skeletal system", + "sense organ", + "Horseshoe kidney (HPO)", + "abnormal postcranial axial skeleton morphology", + "manual digit", "abnormal facial skeleton morphology", - "Abnormal cellular immune system morphology", - "abnormal brain morphology", - "abnormal head", - "Abnormality of skull size", - "Abnormal localization of kidney", - "Growth abnormality", - "abnormal orbital region", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal size of palpebral fissure", - "Abnormality of the palpebral fissures", - "abnormal ocular adnexa", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "absent sperm in the semen", - "decreased length of anatomical entity", + "nervous system", + "intramembranous bone", + "skeleton of limb", + "gonad", + "digit 1 digitopodial skeleton", + "Abnormal morphology of the radius (HPO)", + "pectoral appendage skeleton", + "increased biological_process in independent continuant", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "epiphysis of phalanx of manus", + "anatomical entity hypoplasia in independent continuant", + "Thrombocytopenia (HPO)", + "Abnormality of forebrain morphology (HPO)", + "bone of appendage girdle complex", + "manual digit 1", + "increased pigmentation in skin of body", + "material entity", + "abnormal digit", + "Abnormal cerebral morphology (HPO)", + "Abnormal platelet morphology (HPO)", + "primary subdivision of cranial skeletal system", + "forelimb long bone", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "abnormal manus morphology", + "bone of jaw", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", + "male reproductive system", + "limb bone", "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal kidney morphology", - "decreased spermatogenesis", + "acropodium region", + "specifically dependent continuant", + "internal male genitalia", + "occurrent", + "manual digitopodium bone", + "abnormal skeletal system morphology", + "digitopodium region", "decreased width of the palpebral fissure", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "decreased length of anatomical entity in independent continuant", - "abnormal bone marrow cell morphology", - "Blepharophimosis", - "Abnormality of the upper urinary tract", - "decreased width of the anatomical entity", - "abnormal face", - "abnormal radius bone morphology", - "Narrow palpebral fissure", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "aplasia or hypoplasia of skull", - "Abnormal eyelid morphology", - "Short forearm", - "delayed biological_process", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "Growth delay", + "Abnormality of limb bone morphology (HPO)", + "abnormal radius bone", + "digit plus metapodial segment", + "Abnormal digit morphology (HPO)", + "multi-limb segment region", + "absent manual digit", + "digit 1 or 5", + "Abnormal reproductive system morphology (HPO)", + "immaterial anatomical entity", + "endochondral element", + "decreased width of the anatomical entity in independent continuant", + "abnormal anatomical entity morphology in the skeleton of manus", + "autopodial skeleton", + "abnormal nervous system morphology", + "bone element", + "abdomen element", + "subdivision of trunk", + "Hypermelanotic macule (HPO)", + "abnormal anatomical entity morphology in the pectoral complex", + "dermal skeletal element", + "abnormal forelimb zeugopod", + "Abnormal myeloid cell morphology (HPO)", + "appendage girdle complex", "abnormal anatomical entity topology in independent continuant", - "abnormal leukocyte morphology", - "abnormal growth", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormal cellular phenotype", + "limb segment", "decreased size of the radius bone", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "Upper limb undergrowth", - "Abnormal long bone morphology", - "decreased length of long bone", - "abnormal limb long bone morphology", - "Aplasia/Hypoplasia of the radius", - "abnormal digestive system", - "radius bone hypoplasia", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "anatomical entity hypoplasia in independent continuant", - "decreased size of the multicellular organism", - "abnormal size of multicellular organism", - "Abnormality of the face", - "decreased height of the anatomical entity", - "abnormality of anatomical entity height", - "Abnormality of the digestive system", - "abnormal mouth morphology", - "bone element hypoplasia in face", - "abnormal jaw skeleton morphology", - "Abnormality of reproductive system physiology", - "Aplasia/Hypoplasia involving bones of the skull", + "facial skeleton", + "skull", + "multicellular anatomical structure", + "male gamete", + "ectoderm-derived structure", + "Limb undergrowth (HPO)", + "epiphysis of phalanx", + "decreased spermatogenesis", + "manual digit bone", + "abdominal segment of trunk", + "digit", + "Abnormality of the head (HPO)", + "mandible", + "increased pigmentation", + "abnormal bone of pectoral complex morphology", + "simple eye", + "forelimb bone", + "obsolete cell", + "Abnormal erythrocyte morphology (HPO)", + "epiphysis", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "chromatin organization", + "manual digit 1 phalanx", + "sensory system", + "U-shaped anatomical entity", + "manual digit 1 phalanx endochondral element", + "upper urinary tract", + "skeletal system", + "bone of pectoral complex", + "abnormality of anatomical entity physiology", + "absent epiphysis of phalanx of manus in the independent continuant", + "reproductive structure", + "male reproductive organ", + "abnormal reproductive system", + "manual digit 1 or 5", + "radius endochondral element", + "trunk", + "digit 1 plus metapodial segment", "abnormal head bone morphology", - "Abnormal jaw morphology", - "abnormal size of skull", - "Abnormality of the mouth", - "absent sperm in the independent continuant", + "forelimb skeleton", + "Abnormality of the musculoskeletal system (HPO)", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "manual digitopodium region", + "abnormal nose", + "long bone", + "anterior region of body", + "absent anatomical entity in the multicellular organism", + "male gamete generation", + "zeugopodial skeleton", + "motile cell", "abnormal anatomical entity", - "Abnormal forearm morphology", - "decreased size of the mandible", - "abnormally increased volume of nose", - "increased biological_process in skin of body", - "changed biological_process rate", - "absent germ cell", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "Short stature", - "Hypoplastic facial bones", - "abnormal mandible morphology", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Micrognathia", - "Abnormality of male external genitalia", - "abnormal male reproductive organ morphology", - "abnormality of anatomical entity physiology", - "changed developmental process rate", - "abnormally localised anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal reproductive process", - "Non-obstructive azoospermia", + "paired limb/fin", + "Abnormality of limb bone (HPO)", + "cellular component organization or biogenesis", + "abnormal digit morphology", "Phenotypic abnormality", - "abnormal reproductive system morphology", - "abnormal external male genitalia", + "delayed biological_process", + "abnormal anatomical entity morphology in the manus", + "Abnormality of thrombocytes (HPO)", + "Abnormality of the skin (HPO)", + "reproduction", + "Aplasia/Hypoplasia of the mandible (HPO)", + "Abnormality of limbs (HPO)", + "absent manual digit 1", + "subdivision of organism along appendicular axis", + "absent anatomical entity in the independent continuant", + "Abnormal skeletal morphology (HPO)", + "abnormal limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "phenotype", + "absent anatomical entity in the phalanx of manus", + "Abnormal localization of kidney (HPO)", + "ocular adnexa", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", + "limb skeleton subdivision", + "phalanx endochondral element", + "3-D shape anatomical entity in independent continuant", + "anatomical system", + "aplasia or hypoplasia of anatomical entity", + "forelimb zeugopod skeleton", + "abnormal biological_process in independent continuant", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "bone of free limb or fin", + "abnormal external nose", + "appendicular skeleton", + "Abnormal cellular immune system morphology (HPO)", + "immune system", + "face", + "abnormal craniocervical region", + "manual digit plus metapodial segment", + "Abnormal upper limb bone morphology (HPO)", + "Abnormality of bone marrow cell morphology (HPO)", + "zone of long bone", + "manus bone", + "skeleton", + "Abnormal platelet count (HPO)", + "abnormal manual digit 1 morphology", + "decreased qualitatively sensory perception of sound", + "abnormal palpebral fissure", + "abnormal epiphysis morphology in the independent continuant", + "Abnormal eyelid morphology (HPO)", + "limb long bone", + "dermatocranium", + "anatomical structure", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "anatomical collection", + "bone element hypoplasia in independent continuant", + "abnormal anatomical entity morphology", + "integument", + "abnormal number of anatomical enitites of type anatomical entity", + "hematopoietic system", + "abnormal forebrain morphology", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "manual digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "Abnormal hand morphology (HPO)", + "system", + "Abnormality of the face (HPO)", + "aplasia or hypoplasia of skeleton", + "independent continuant", + "U-shaped kidney", + "material anatomical entity", + "abnormal epiphysis morphology in the skeleton of manus", + "appendage", + "3-D shape anatomical entity", + "Abnormal cellular phenotype (HPO)", + "testis", + "craniocervical region", + "Abnormality of upper limb epiphysis morphology (HPO)", + "Abnormality of brain morphology (HPO)", + "pectoral appendage", + "autopodial extension", + "agenesis of anatomical entity", + "abnormal nervous system", + "abnormal DNA metabolic process", + "decreased size of the mandible", + "forelimb", + "sensory perception of sound", + "abnormal phalanx of manus morphology", + "absent epiphysis", + "abnormal arm", + "Abnormal appendicular skeleton morphology (HPO)", + "multicellular organism", + "abnormality of male reproductive system physiology", + "abnormal ocular adnexa", + "Absent thumb (HPO)", + "organism substance", + "Abnormal leukocyte count (HPO)", + "chromatin remodeling", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", + "Micrognathia (HPO)", + "abnormal limb bone", + "increased pigmentation in independent continuant", + "Absent epiphyses of the thumb (HPO)", + "abnormal epiphysis of phalanx of manus morphology", + "abnormal cellular component organization", + "appendicular skeletal system", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "Anemia (HPO)", + "Abnormal thumb morphology (HPO)", ], }, { @@ -9598,704 +14951,1196 @@ def autocomplete_response(): "HP:0003076", "HP:0002909", "HP:0002049", + "HP:0001942", "HP:0003648", "HP:0001324", - "HP:0001942", "HP:0002749", - "HP:0000124", - "HP:0004322", - "HP:0000083", + "HP:0003155", "HP:0002148", + "HP:0000124", "HP:0003109", "HP:0002900", "HP:0002748", - "HP:0034359", "HP:0003076", - "HP:0003155", "HP:0003355", + "HP:0004322", "HP:0003126", + "HP:0000083", ], "has_phenotype_label": [ - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Osteomalacia", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis", - "Lacticaciduria", - "Muscle weakness", - "Metabolic acidosis", - "Osteomalacia", - "Renal tubular dysfunction", - "Short stature", - "Renal insufficiency", - "Hypophosphatemia", - "Hyperphosphaturia", - "Hypokalemia", - "Rickets", - "Impaired renal tubular reabsorption of phosphate", - "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", - "Low-molecular-weight proteinuria", + "Renal phosphate wasting (HPO)", + "Weight loss (HPO)", + "Muscle weakness (HPO)", + "Bicarbonate-wasting renal tubular acidosis (HPO)", + "Osteomalacia (HPO)", + "Growth delay (HPO)", + "Stage 5 chronic kidney disease (HPO)", + "Hypercalciuria (HPO)", + "Dehydration (HPO)", + "Pulmonary fibrosis (HPO)", + "Hypoglycemia (HPO)", + "Chronic kidney disease (HPO)", + "Renal sodium wasting (HPO)", + "Hypophosphatemic rickets (HPO)", + "Hypouricemia (HPO)", + "Decreased plasma carnitine (HPO)", + "Increased urinary potassium (HPO)", + "Hypokalemia (HPO)", + "Increased susceptibility to fractures (HPO)", + "Bone pain (HPO)", + "Hypophosphatemia (HPO)", + "Abnormal urine pH (HPO)", + "Hyperchloremic metabolic acidosis (HPO)", + "Bicarbonaturia (HPO)", + "Hyperuricosuria (HPO)", + "Low-molecular-weight proteinuria (HPO)", + "Glycosuria (HPO)", + "Generalized aminoaciduria (HPO)", + "Proximal renal tubular acidosis (HPO)", + "Metabolic acidosis (HPO)", + "Lacticaciduria (HPO)", + "Muscle weakness (HPO)", + "Osteomalacia (HPO)", + "Elevated circulating alkaline phosphatase concentration (HPO)", + "Hypophosphatemia (HPO)", + "Renal tubular dysfunction (HPO)", + "Hyperphosphaturia (HPO)", + "Hypokalemia (HPO)", + "Rickets (HPO)", + "Glycosuria (HPO)", + "Aminoaciduria (HPO)", + "Short stature (HPO)", + "Low-molecular-weight proteinuria (HPO)", + "Renal insufficiency (HPO)", ], - "has_phenotype_count": 39, + "has_phenotype_count": 38, "has_phenotype_closure": [ - "UPHENO:0046362", + "UPHENO:0012541", + "UPHENO:0075159", + "UPHENO:0075195", + "HP:0004322", + "UPHENO:0069254", + "UPHENO:0068292", + "PR:000003968", + "PR:000018263", + "PR:000000001", + "CHEBI:28358", + "UPHENO:0068094", + "CHEBI:33575", + "HP:0001992", + "UPHENO:0046286", + "UPHENO:0068040", + "CHEBI:33608", + "CHEBI:60911", + "CHEBI:24651", + "HP:0031980", + "UPHENO:0051930", + "UPHENO:0068495", + "CHEBI:35605", + "HP:0003155", + "CHEBI:36586", + "UPHENO:0051635", + "UPHENO:0068058", + "UPHENO:0080658", + "HP:0003076", + "CHEBI:60004", + "CHEBI:37622", + "CHEBI:50047", + "CHEBI:16541", + "UPHENO:0068247", + "CHEBI:33709", + "UPHENO:0068565", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068491", + "UPHENO:0078554", + "CHEBI:35406", + "HP:0033354", + "HP:0003646", + "UPHENO:0068036", + "CHEBI:25696", + "CHEBI:25741", + "UPHENO:0051714", + "UPHENO:0051688", + "UPHENO:0051659", + "CHEBI:17544", + "CHEBI:25699", + "HP:0011279", + "UPHENO:0081777", + "UPHENO:0084542", + "HP:0004918", + "HP:0032943", + "HP:0002653", + "HP:0012531", + "UPHENO:0068511", + "HP:0002900", + "CHEBI:60242", + "CHEBI:25414", + "HP:0010929", + "CHEBI:36915", + "CHEBI:23906", + "CHEBI:24835", + "GO:0050801", + "UPHENO:0051645", + "CHEBI:37247", + "CHEBI:29103", + "HP:0001995", + "CHEBI:36916", + "CHEBI:36914", + "UPHENO:0051958", + "UPHENO:0034438", + "HP:0003081", + "UPHENO:0068296", + "UPHENO:0051739", + "UPHENO:0046283", + "HP:0012598", + "UPHENO:0068350", + "UPHENO:0051849", + "CHEBI:26469", + "CHEBI:35281", + "GO:0110165", + "HP:0003287", + "UPHENO:0050484", + "CHEBI:51151", + "GO:0005739", + "GO:0032787", + "UPHENO:0068079", + "UPHENO:0084541", + "GO:0005575", + "UPHENO:0078640", + "GO:0043436", + "UPHENO:0077817", + "CHEBI:35381", + "GO:0006577", + "GO:0006575", + "UPHENO:0034319", + "CHEBI:17126", + "UPHENO:0084472", + "HP:0003119", + "CHEBI:35604", + "HP:0010996", + "UPHENO:0051777", + "CHEBI:22860", + "GO:0044255", + "CHEBI:35284", + "CHEBI:33833", + "GO:0019752", + "UPHENO:0051887", + "HP:0004359", + "CHEBI:83821", + "GO:0005737", + "UPHENO:0002816", + "UPHENO:0049723", + "HP:0001939", + "CHEBI:27171", + "GO:0043229", + "HP:0004325", + "GO:0043227", + "GO:0043226", + "GO:0005623", + "UBERON:0001630", + "UPHENO:0006889", + "UPHENO:0080352", + "UPHENO:0034149", + "UPHENO:0078646", + "UPHENO:0084537", + "CHEBI:33318", + "CHEBI:38101", + "GO:0071704", + "CHEBI:59999", + "HP:0003126", + "UPHENO:0049873", + 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"UPHENO:0002442", + "HP:0002150", "UPHENO:0001003", - "UPHENO:0054261", - "HP:0004325", - "UPHENO:0001002", - "HP:0002206", - "UPHENO:0051898", - "UPHENO:0081548", - "UPHENO:0015280", + "CHEBI:33579", + "UBERON:0000463", "UPHENO:0078592", - "HP:0012591", - "HP:0001939", - "UPHENO:0068064", - "UPHENO:0076692", - "UPHENO:0002536", - "HP:0003149", - "UPHENO:0049628", - "UPHENO:0084653", - "UPHENO:0002320", - "UPHENO:0081423", - "HP:0002909", - "UPHENO:0002642", - "HP:0004348", - "HP:0000001", - "HP:0003537", - "HP:0001942", - "HP:0001507", - "UPHENO:0076294", - "HP:0004359", - "HP:0012211", - "UPHENO:0051847", - "HP:0003110", - "UPHENO:0034391", - "UPHENO:0010763", - "UPHENO:0054299", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0049874", - "HP:0000117", - "UPHENO:0081550", - "PATO:0000001", - "HP:0002088", - "UPHENO:0002816", - "HP:0001824", - "UPHENO:0068538", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0011849", - "UPHENO:0050539", + "UPHENO:0051619", + "HP:0100529", + "CL:0000000", + "UPHENO:0068110", + "UBERON:0004119", + "GO:0050878", + "HP:0003774", + "UPHENO:0081440", "HP:0000083", - "UPHENO:0082794", - "HP:0011804", - "HP:0010935", - "BFO:0000020", - "HP:0011032", - "UPHENO:0001005", - "UPHENO:0075902", - "HP:0012599", - "HP:0011277", - "UPHENO:0046283", - "HP:0033127", - "HP:0012337", - "HP:0003011", - "UPHENO:0051763", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0049904", - "HP:0004369", - "HP:0012610", - "UPHENO:0051766", - "UPHENO:0080555", - "HP:0011015", - "UPHENO:0004459", - "UPHENO:0080351", - "UPHENO:0076286", - "HP:0001943", - "UPHENO:0034438", - "HP:0012531", + "CHEBI:33839", + "GO:0065007", + "GO:0055086", + "UPHENO:0000541", + "UPHENO:0051801", + "GO:0008152", + "HP:0003234", + "BFO:0000002", + "GO:0001503", + "UBERON:0002204", + "HP:0003110", + "UPHENO:0046284", + "UPHENO:0052008", + "HP:0003330", + "UPHENO:0081581", + "GO:0065008", + "GO:0044237", + "UPHENO:0068102", + "CHEBI:35352", + "HP:0000924", + "HP:0004348", + "HP:0001947", "HP:0004349", - "HP:0012603", - "HP:0012606", - "UPHENO:0051887", - "HP:0032180", - "HP:0011042", - "UPHENO:0051866", - "UPHENO:0050116", - "UPHENO:0046356", - "UPHENO:0051960", - "UPHENO:0051849", - "UPHENO:0051714", + "UPHENO:0084653", + "UBERON:0001015", + "HP:0000002", + "CHEBI:33304", + "HP:0011842", + "CHEBI:22984", + "CHEBI:138675", + "UPHENO:0076294", + "UPHENO:0081544", + "HP:0011032", + "GO:1901564", + "HP:0010966", + "HP:0012379", + "UPHENO:0002448", + "CHEBI:33521", + "CHEBI:33296", + "UPHENO:0076692", + "CHEBI:33256", + "CHEBI:33636", + "UPHENO:0076703", + "GO:0055080", + "CHEBI:33302", + "UPHENO:0050539", + "UPHENO:0001001", "UPHENO:0051937", - "UPHENO:0050080", - "HP:0001992", + "UBERON:0011216", + "HP:0012622", + "HP:0012606", + "UPHENO:0084654", + "UPHENO:0068054", + "UBERON:0004120", + "UBERON:0000479", + "CHEBI:26401", + "UPHENO:0078555", + "HP:0001510", + "UPHENO:0082834", + "UPHENO:0002803", + "UPHENO:0051847", + "UBERON:0006314", "UPHENO:0066943", - "UPHENO:0051709", + "UBERON:0000916", + "GO:0055062", + "UPHENO:0080659", + "HP:0011280", + "HP:0012591", + "UBERON:0002100", + "UBERON:0002417", + "HP:0001507", + "HP:0001871", "HP:0003111", - "UPHENO:0034253", - "HP:0003648", - "HP:0001941", - "UPHENO:0051804", - "HP:0004912", - "HP:0003126", - "UPHENO:0002803", + "UPHENO:0034248", + "CHEBI:22314", + "UPHENO:0082835", + "UPHENO:0068971", + "UBERON:0003103", + "UPHENO:0082539", + "UBERON:0009569", + "UBERON:0011676", + "CHEBI:24431", + "UPHENO:0068169", + "UPHENO:0082543", + "UPHENO:0002411", + "HP:0003537", + "CHEBI:36358", + "GO:1901360", + "UPHENO:0081546", + "GO:0040007", + "HP:0004360", + "UPHENO:0082761", + "UBERON:0004819", + "HP:0003011", + "UPHENO:0081547", + "GO:0043231", + "PR:000050567", + "UPHENO:0051866", + "UPHENO:0079536", + "UPHENO:0054299", + "UBERON:0000483", + "HP:0004354", + "CHEBI:33672", + "UPHENO:0024906", + "HP:0001942", + "UPHENO:0068089", + "CHEBI:25213", + "UBERON:0015212", + "UPHENO:0048707", + "CHEBI:15841", + "HP:0004364", + "PATO:0000001", + "UPHENO:0049874", + "UPHENO:0000543", + "CHEBI:33694", + "UPHENO:0049709", + "HP:0011017", + "UBERON:0002113", + "UBERON:0013701", + "UBERON:0011143", + "GO:0098771", + "UPHENO:0068064", "UPHENO:0002832", - "HP:0002748", - "HP:0100529", - "HP:0011280", - "UPHENO:0051704", - "UPHENO:0034217", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "UPHENO:0082544", - "UPHENO:0068251", - "UPHENO:0068054", - "UPHENO:0051777", - "UPHENO:0078616", - "HP:0034684", - "HP:0010932", - "UPHENO:0051686", - "UPHENO:0068036", - "UPHENO:0050113", - "UPHENO:0049748", - "UPHENO:0079822", + "UPHENO:0051668", + "HP:0032180", + "GO:0006725", + "UBERON:0004765", + "GO:0033500", + "UPHENO:0051678", + "GO:0006082", + "UPHENO:0002320", + "UPHENO:0002642", + "HP:0004323", + "UPHENO:0080555", + "GO:0042592", + "UBERON:0000062", + "HP:0000117", + "GO:0044238", + "GO:0006807", + "UPHENO:0019970", + "UBERON:0005177", + "HP:0003109", + "GO:0032501", + "HP:0010930", + "UBERON:0007684", + "GO:0008150", + "UPHENO:0077829", + "HP:0011804", + "UPHENO:0051670", + "UPHENO:0034276", + "UBERON:0001231", + "CHEBI:26079", + "UPHENO:0080556", + "CHEBI:64709", + "HP:0025142", + "GO:0006629", + "HP:0004352", + "HP:0001824", + "UBERON:0000174", + "UBERON:0004211", + "CHEBI:33655", + "GO:0042593", + "HP:0011277", + "HP:0003149", + "UBERON:0000467", + "HP:0010935", + "CHEBI:24870", "UPHENO:0051608", - "UPHENO:0051688", - "UPHENO:0077821", - "UPHENO:0077826", - "UPHENO:0051712", - "UPHENO:0086128", - "UPHENO:0049587", - "UPHENO:0066781", - "HP:0011279", + "CHEBI:26216", + "CHEBI:33559", + "CHEBI:36359", + "UBERON:0004122", "HP:0002659", - "HP:0004364", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0081424", - "UPHENO:0084541", - "UPHENO:0024906", - "UPHENO:0034149", + "CHEBI:27226", + "HP:0000001", + "UPHENO:0075902", + "UBERON:0001088", + "HP:0034684", + "CHEBI:16670", + "UPHENO:0075696", + "GO:0055067", + "UPHENO:0077821", + "UPHENO:0002964", + "BFO:0000004", + "HP:0020129", + "UBERON:0000064", + "UPHENO:0051900", + "CHEBI:24833", + "UPHENO:0001002", + "UPHENO:0068144", + "CHEBI:33675", + "CHEBI:33241", + "UBERON:0001004", + "UBERON:0000475", + "GO:0006139", + "UPHENO:0050113", + "HP:0010932", + "GO:0005622", + "BFO:0000015", + "CHEBI:33674", + "UBERON:0000383", + "CHEBI:38166", + "UPHENO:0004536", + "CHEBI:36360", + "HP:0000119", + "UPHENO:0081550", + "UBERON:0001285", + "CHEBI:26020", + "BFO:0000040", + "HP:0012599", + "UPHENO:0001005", + "HP:0000118", "UPHENO:0082875", - "UPHENO:0034276", - "HP:0004354", - "UPHENO:0068350", - "HP:0025354", - "UPHENO:0050484", - "HP:0010966", - "HP:0003119", - "UPHENO:0084537", - "UPHENO:0049723", - "HP:0034359", - "HP:0010967", - "UPHENO:0078640", - "UPHENO:0068094", - "UPHENO:0078646", - "UPHENO:0034248", - "HP:0001944", - "HP:0003287", - "UPHENO:0086172", - "UPHENO:0034199", - "HP:0011017", - "HP:0010996", + "UPHENO:0051960", + "UPHENO:0051686", + "UBERON:0003914", + "CHEBI:23367", + "UPHENO:0068091", + "CHEBI:37577", + "UPHENO:0077820", "HP:0002049", - "UPHENO:0066739", - "UPHENO:0068296", - "UPHENO:0087433", - "HP:0012598", - "HP:0003081", - "UPHENO:0051958", - "UPHENO:0076299", - "UPHENO:0052008", - "HP:0010929", - "UPHENO:0086908", - "UPHENO:0081440", - "HP:0032943", - "HP:0003234", - "HP:0011843", - "HP:0025142", - "UPHENO:0076703", - "HP:0002653", - "HP:0004918", + "BFO:0000020", + "UBERON:0005173", + "HP:0004379", + "HP:0002749", + "UPHENO:0002536", + "UPHENO:0051763", + "UBERON:0001434", + "UPHENO:0010795", + "UBERON:0001062", + "CHEBI:22563", + "UPHENO:0046348", + "BFO:0000001", + "UPHENO:0081423", + "UPHENO:0082538", + "UPHENO:0010763", + "HP:0012103", + "UBERON:0009773", + "UBERON:0010000", + "HP:0011849", + "HP:0000093", + "UPHENO:0002442", + "HP:0010967", + "CHEBI:33582", "HP:0000124", - "UPHENO:0067999", - "HP:0001995", - "HP:0000002", - "HP:0002157", - "HP:0033354", - "UPHENO:0084542", - "UPHENO:0051659", - "UPHENO:0068079", + "UBERON:0001008", + "UBERON:8450002", + "CHEBI:35875", + "UBERON:0000489", + "UPHENO:0066927", "UPHENO:0002332", - "UPHENO:0078554", + "UPHENO:0079824", + "UPHENO:0034391", + "CHEBI:22313", + "UBERON:0000465", + "UBERON:0006555", ], "has_phenotype_closure_label": [ + "abnormal size of anatomical entity", + "decreased size of the multicellular organism", + "Short stature (HPO)", + "decreased height of the anatomical entity", + "abnormality of multicellular organism height", + "Hyperphosphaturia (HPO)", + "increased level of phosphate in urine", + "biomacromolecule", "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "protein", + "amino acid chain", + "Abnormal enzyme/coenzyme activity (HPO)", + "information biomacromolecule", + "Abnormality of alkaline phosphatase level (HPO)", + "abnormal protein level", "increased level of protein", + "Elevated circulating alkaline phosphatase concentration (HPO)", "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "Impaired renal tubular reabsorption of phosphate", - "abnormal renal system process", - "Abnormal renal tubular resorption", - "abnormal renal absorption", - "Hyperphosphaturia", - "increased level of phosphate in urine", + "Abnormal enzyme concentration or activity", + "increased level of rac-lactic acid in independent continuant", + "rac-lactic acid", + "increased level of rac-lactic acid in urine", + "chemical substance", + "abnormal independent continuant carboxylic acid level", + "decreased size of the anatomical entity in the independent continuant", + "hydrogen molecular entity", + "Generalized aminoaciduria (HPO)", + "organic acid", + "carbonyl compound", + "carboxylic acid", + "oxoacid", + "abnormal independent continuant amino acid level", + "Elevated urinary carboxylic acid (HPO)", + "increased level of amino acid in urine", + "abnormal urine amino acid level", + "Aminoaciduria (HPO)", + "increased level of organic acid in urine", + "increased level of glucose in independent continuant", + "increased level of monosaccharide in urine", + "increased level of monosaccharide in independent continuant", + "amide", + "mixture", + "primary amide", + "organic amino compound", + "Proteinuria (HPO)", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in independent continuant", + "macromolecule", + "abnormal size of multicellular organism", + "increased level of uric acid in urine", + "increased level of uric acid in independent continuant", + "Hyperuricosuria (HPO)", + "organic anion", + "Abnormality of body height (HPO)", + "abnormal hydrogencarbonate level", + "hydrogencarbonate", + "increased level of organic molecular entity in independent continuant", + "oxoanion", "decreased height of the multicellular organism", + "Abnormal urine carboxylic acid level (HPO)", + "organic ion", + "amino acid", + "anion", + "abnormal independent continuant hydrogencarbonate level", + "Abnormality of urine bicarbonate level (HPO)", + "Abnormal urine pH (HPO)", + "increased level of carboxylic acid in independent continuant", + "Bone pain (HPO)", + "Increased susceptibility to fractures (HPO)", + "abnormality of musculoskeletal system physiology", + "obsolete monovalent inorganic cation homeostasis", + "abnormal blood potassium atom level", + "polyatomic ion", + "decreased level of potassium atom in blood", + "abnormal urine glucose level", + "inorganic cation", + "Abnormal urine metabolite level (HPO)", + "alkali metal molecular entity", + "monoatomic cation", + "abnormal blood potassium(1+) level", + "increased independent continuant base level", + "monoatomic ion homeostasis", + "monoatomic monocation", + "Abnormal blood monovalent inorganic cation concentration (HPO)", + "Abnormal blood potassium concentration (HPO)", + "cation", + "inorganic ion", + "Hypokalemia (HPO)", + "decreased level of potassium atom in independent continuant", + "potassium atom", + "abnormal urine organic anion level", + "abnormal independent continuant potassium atom level", + "Increased urinary potassium (HPO)", + "Decreased plasma carnitine (HPO)", + "decreased level of amino-acid betaine", + "Abnormal circulating monocarboxylic acid concentration", + "intracellular membrane-bounded organelle", + "carnitine metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion (HPO)", + "abnormal amino-acid betaine level", + "Abnormality of the genitourinary system (HPO)", + "Abnormal circulating carnitine concentration (HPO)", + "abnormal monovalent inorganic cation homeostasis", + "excretory system", + "abnormal lipid metabolic process", + "cytoplasm", + "regulation of biological quality", + "abnormal mitochondrion", + "abnormal blood carnitine level", + "Organic aciduria (HPO)", + "dipolar compound", + "abnormal potassium atom level", + "Abnormal bone structure (HPO)", + "mitochondrion", + "decreased level of carnitine in blood", + "amino-acid betaine metabolic process", + "Constitutional symptom (HPO)", + "lipid metabolic process", + "cellular anatomical entity", + "abnormal cellular_component", + "abnormal urine sodium atom level", + "organic molecule", + "intracellular organelle", + "Hypouricemia (HPO)", + "increased level of calcium atom in independent continuant", + "abnormal independent continuant calcium atom level", + "organonitrogen compound", + "Abnormal circulating nucleobase concentration (HPO)", + "fatty acid metabolic process", + "polycyclic compound", + "onium betaine", + "heteropolycyclic compound", + "abnormal blood nitrogen molecular entity level", + "heterobicyclic compound", + "organic aromatic compound", + "Rickets (HPO)", + "Abnormal circulating nitrogen compound concentration (HPO)", + "imidazopyrimidine", + "Weight loss (HPO)", + "intracellular anatomical structure", + "increased level of amino acid in independent continuant", + "cellular process", + "increased level of nitrogen molecular entity in blood", + "increased level of nitrogen molecular entity in independent continuant", + "aromatic compound", + "organonitrogen heterocyclic compound", + "increased level of potassium atom in independent continuant", + "heteroarene", + "heterocyclic compound", + "organic cyclic compound", + "cyclic compound", + "purine-containing compound metabolic process", + "heterocycle metabolic process", + "abnormal independent continuant uric acid level", + "molecule", + "cellular modified amino acid metabolic process", + "nucleobase metabolic process", + "obsolete cell", + "Abnormal circulating purine concentration (HPO)", + "amino acid derivative", + "decreased level of uric acid in blood", + "decreased role independent continuant level", + "organic substance metabolic process", + "phenotype by ontology source", + "excreta", + "cell", + "cellular metabolic process", + "abnormal purine nucleobase metabolic process", + "endoderm-derived structure", + "cellular lipid metabolic process", + "Abnormal urine potassium concentration (HPO)", + "polyatomic entity", + "ion", + "abnormal independent continuant monoatomic ion level", + "Phenotypic abnormality", + "Hypophosphatemic rickets (HPO)", + "decreased level of phosphate in blood", + "decreased level of chemical entity in independent continuant", + "abnormal independent continuant organic anion level", + "abnormal independent continuant gas molecular entity level", + "decreased role blood level", + "phosphate ion homeostasis", "abnormality of anatomical entity height", - "abnormal size of multicellular organism", - "Abnormality of body height", - "increased level of rac-lactic acid in independent continuant", - "increased level of rac-lactic acid in urine", - "Proximal renal tubular acidosis", - "Organic aciduria", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of amino acid in urine", - "Generalized aminoaciduria", - "abnormal urine amino acid level", - "Aminoaciduria", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", - "increased level of organic acid in urine", - "increased level of organic acid in independent continuant", - "Elevated urinary carboxylic acid", - "increased level of monosaccharide in urine", + "decreased level of chemical entity", + "monoatomic ion", + "decreased level of phosphate in independent continuant", + "Abnormality of urinary uric acid level (HPO)", + "increased level of hydrogencarbonate in urine", + "Abnormality of body weight (HPO)", + "increased level of chemical entity in blood", + "Abnormal urine sodium concentration (HPO)", + "trunk", + "ammonium betaine", + "aldohexose", + "abnormal urine potassium atom level", + "haemolymphatic fluid", + "hematopoietic system", + "abnormal nucleobase metabolic process", + "hemolymphoid system", + "Abnormal circulating fatty-acid concentration (HPO)", + "Abnormality of the kidney (HPO)", + "Abnormal lung morphology (HPO)", + "abnormal blood chemical entity level", + "Abnormal blood gas level (HPO)", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant glucose level", + "delayed growth", + "cellular aromatic compound metabolic process", + "alkali metal cation", + "abnormal role blood level", + "carbohydrate homeostasis", + "aldose", + "abnormal carnitine metabolic process", + "epithelium", + "Decreased anatomical entity mass density", + "hexose", + "monosaccharide", + "Hypoglycemia (HPO)", "increased level of glucose in urine", - "increased level of glucose in independent continuant", - "increased level of monosaccharide in independent continuant", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in urine", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", + "organooxygen compound", + "Abnormal circulating metabolite concentration (HPO)", + "organic molecular entity", + "abnormal skeletal system morphology", "abnormal independent continuant carbohydrate level", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "abnormal blood nitrogen molecular entity level", - "Pulmonary fibrosis", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "Abnormality of the respiratory system", - "increased level of phosphate in independent continuant", + "mesoderm-derived structure", + "abnormal independent continuant carnitine level", + "abnormal blood gas molecular entity level", + "hydroxides", + "chemical homeostasis", + "epithelial tube", + "respiratory airway", + "abnormal metabolite independent continuant level", + "respiration organ", + "elemental molecular entity", + "Low-molecular-weight proteinuria (HPO)", + "respiratory tract", + "Dehydration (HPO)", + "proximo-distal subdivision of respiratory tract", + "sodium atom", + "abnormal cellular process", "abnormal lung morphology", - "All", + "nitrogen molecular entity", + "Hyperchloremic metabolic acidosis (HPO)", + "organochalcogen compound", + "abnormal anatomical entity morphology in the independent continuant", + "subdivision of tube", "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "Dehydration", - "Renal insufficiency", + "glucose", + "abnormal biological_process", + "lower respiratory tract", + "heteroatomic molecular entity", + "viscus", + "carboxylic acid metabolic process", + "thoracic segment organ", + "Bicarbonaturia (HPO)", + "Azotemia (HPO)", + "decreased multicellular organism mass", + "Pulmonary fibrosis (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "pair of lungs", + "oxygen molecular entity", + "increased level of purines in independent continuant", + "abnormality of respiratory system physiology", + "Renal phosphate wasting (HPO)", + "Abnormality of urine homeostasis (HPO)", + "anatomical collection", + "Abnormal muscle physiology (HPO)", + "Abnormality of the respiratory system (HPO)", "anatomical entity fibrosis", - "Abnormality of metabolism/homeostasis", - "abnormal role blood level", + "atom", + "lung", + "polypeptide", + "abnormal respiratory system", + "organic heterobicyclic compound", + "Abnormal respiratory system morphology (HPO)", + "lateral structure", "abnormal regulation of body fluid levels", - "increased level of chemical entity in bodily fluid", - "decreased size of the anatomical entity in the independent continuant", "abnormal urine calcium atom level", + "purines", + "Abnormality of the skeletal system (HPO)", + "calcium atom", + "Abnormal respiratory system physiology (HPO)", + "Abnormal renal physiology (HPO)", + "blood", + "oxide", + "abnormal monocarboxylic acid metabolic process", + "Hypercalciuria (HPO)", + "increased level of chemical entity in urine", + "carbohydrates and carbohydrate derivatives", + "muscle organ", "increased level of calcium atom in urine", - "Elevated circulating alkaline phosphatase concentration", - "abnormality of kidney physiology", - "Hypercalciuria", - "Abnormal circulating carboxylic acid concentration", - "abnormal calcium atom level", - "increased level of organic molecular entity in independent continuant", - "non-functional kidney", - "Chronic kidney disease", - "Abnormality of bone mineral density", - "Abnormal bone structure", - "Hyperchloremic acidosis", - "abnormal bone element mass density", - "abnormal monoatomic cation homeostasis", - "Abnormal circulating enzyme concentration or activity", - "Hyperuricosuria", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "abnormal role independent continuant level", - "increased bodily fluid role level", - "Acidosis", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Short stature", - "abnormally decreased functionality of the anatomical entity", - "Abnormal renal physiology", - "Weight loss", - "increased independent continuant acid level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "abnormal urine chemical entity level", - "abnormal homeostatic process", - "Abnormality of the urinary system physiology", - "increased level of potassium atom in independent continuant", - "decreased muscle organ strength", - "Aciduria", - "Abnormality of the urinary system", - "abnormal independent continuant potassium atom level", - "Abnormality of urinary uric acid level", - "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal urine potassium atom level", - "entity", - "increased level of protein polypeptide chain in independent continuant", + "increased level of carboxylic acid in urine", + "multicellular organismal process", + "Abnormality of urine calcium concentration (HPO)", + "abnormal fatty acid metabolic process", + "purine nucleobase metabolic process", + "Chronic kidney disease (HPO)", + "Abnormality of musculoskeletal physiology (HPO)", + "delayed biological_process", + "Stage 5 chronic kidney disease (HPO)", + "carbon group molecular entity", + "metal cation", + "Growth delay (HPO)", + "Hypophosphatemia (HPO)", + "monovalent inorganic cation", + "musculoskeletal system", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "process", + "carboxamide", + "Abnormality of the urinary system (HPO)", + "biological regulation", + "increased independent continuant role level", + "decreased level of chemical entity in blood", + "Abnormal bone ossification (HPO)", + "alkaline phosphatase, tissue-nonspecific isozyme", + "continuant", + "Osteomalacia (HPO)", + "Abnormal skeletal morphology (HPO)", + "regulation of body fluid levels", "abnormal skeletal system", - "abnormal potassium atom level", - "Abnormal musculoskeletal physiology", + "monocarboxylic acid metabolic process", + "Abnormality of the musculature (HPO)", + "compound organ", + "abnormal cellular metabolic process", + "Renal insufficiency (HPO)", + "carbohydrate", + "homeostatic process", + "abnormal role urine level", + "zwitterion", + "Abnormal cellular phenotype (HPO)", + "renal tubule", + "uriniferous tubule", + "increased level of chemical entity", + "abnormal growth", + "respiratory system", + "abnormal urine chemical entity level", + "Abnormality of bone mineral density (HPO)", + "decreased anatomical entity mass", "anatomical entity dysfunction in independent continuant", - "abnormal musculature", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "increased level of amino acid in independent continuant", - "Abnormality of the musculature", - "abnormal independent continuant calcium atom level", - "Reduced bone mineral density", - "specifically dependent continuant", + "decreased level of carnitine in independent continuant", + "abnormal blood oxygen molecular entity level", "abnormal anatomical entity morphology", - "delayed biological_process", - "Osteomalacia", - "abnormal multicellular organism chemical entity level", - "abnormality of muscle organ physiology", - "Growth delay", - "abnormal blood glucose level", - "Decreased plasma carnitine", - "Renal phosphate wasting", - "Metabolic acidosis", - "quality", + "Reduced bone mineral density (HPO)", + "abnormally decreased functionality of the nephron tubule", + "Metabolic acidosis (HPO)", + "increased level of phosphate in independent continuant", "abnormality of renal system physiology", - "Stage 5 chronic kidney disease", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in blood", + "Decreased bone element mass density", + "organism subdivision", + "body proper", + "glucose homeostasis", + "abnormality of kidney physiology", + "monoatomic entity", + "abnormal sodium atom level", + "organic acid metabolic process", + "cellular nitrogen compound metabolic process", + "abnormal multicellular organism morphology", + "primary metabolic process", + "ossification", + "abnormal metabolic process", + "abnormal phosphate ion homeostasis", + "abdomen", + "protein polypeptide chain", + "Bicarbonate-wasting renal tubular acidosis (HPO)", + "organ part", + "phosphorus oxoacids and derivatives", + "carbon oxoacid", + "nephron tubule", + "increased level of chemical entity in bodily fluid", + "abnormal musculature", + "subdivision of trunk", + "abdomen element", + "increased level of hydrogencarbonate in independent continuant", + "Pain (HPO)", + "organic heteropolycyclic compound", + "elemental potassium", + "anatomical conduit", + "abnormal blood phosphate level", + "organic oxo compound", + "increased independent continuant acid level", + "potassium molecular entity", + "Decreased circulating purine concentration (HPO)", + "s-block element atom", + "abnormal anatomical entity mass density", + "decreased level of uric acid in independent continuant", + "chalcogen molecular entity", + "cavitated compound organ", + "Renal tubular acidosis (HPO)", + "bodily fluid", + "occurrent", + "phosphorus oxoacid derivative", + "specifically dependent continuant", + "abnormal role independent continuant level", + "nephron epithelium", + "increased level of potassium atom in urine", + "Renal sodium wasting (HPO)", + "Hyperchloremic acidosis (HPO)", + "abnormal acid bodily fluid level", + "Glycosuria (HPO)", + "abnormality of anatomical entity mass", + "bone element", + "abnormal amino acid level", + "Aciduria (HPO)", + "nucleobase-containing compound metabolic process", + "subdivision of organism along main body axis", "abnormal respiratory system morphology", - "increased level of uric acid in urine", - "Abnormality of urine homeostasis", - "decreased role independent continuant level", - "increased level of calcium atom in independent continuant", - "Abnormal respiratory system morphology", - "Bone pain", - "Abnormality of the upper urinary tract", + "main body axis", + "Abnormal urine protein level (HPO)", + "alkali metal atom", + "Lacticaciduria (HPO)", + "alkaline earth metal atom", + "increased bodily fluid acid level", + "cytoplasmic region", + "excretory tube", + "increased level of organic acid in independent continuant", + "skeletal system", + "abnormally decreased functionality of the anatomical entity", + "upper urinary tract", + "Proximal renal tubular acidosis (HPO)", + "organic heterocyclic compound", + "abnormal calcium atom level", + "kidney", + "Abnormal circulating carboxylic acid concentration (HPO)", "decreased anatomical entity strength", - "Abnormal circulating fatty-acid concentration", - "abnormal anatomical entity", - "abnormal phenotype by ontology source", - "decreased level of potassium atom in blood", - "abnormal growth", - "abnormal blood uric acid level", - "abnormal cellular_component", - "abnormal genitourinary system", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "Decreased anatomical entity mass density", - "Abnormal blood ion concentration", + "independent continuant", + "heteroorganic entity", + "organ", + "abnormal independent continuant sodium atom level", + "inorganic molecular entity", + "amino-acid betaine", + "quaternary nitrogen compound", + "main group element atom", + "Abnormality of acid-base homeostasis (HPO)", + "uric acid", + "potassium(1+)", + "abnormal cation homeostasis", + "metabolic process", + "increased bodily fluid role level", + "abnormal multicellular organism chemical entity level", + "Muscle weakness (HPO)", + "Abnormal circulating lipid concentration (HPO)", + "s-block molecular entity", + "Abnormality of the upper urinary tract (HPO)", + "material anatomical entity", + "Decreased multicellular organism mass", + "nephron", + "abnormal amino acid derivative level", + "Abnormality of metabolism/homeostasis (HPO)", + "Acidosis (HPO)", + "Growth abnormality (HPO)", + "skeletal element", + "peptide", + "thoracic segment of trunk", + "Abnormal urinary electrolyte concentration (HPO)", + "pnictogen molecular entity", + "phosphorus molecular entity", + "nitrogen compound metabolic process", + "abdominal segment of trunk", + "abnormal independent continuant oxygen molecular entity level", "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormal anatomical entity morphology in the independent continuant", - "Growth abnormality", - "decreased anatomical entity mass", - "Abnormal lung morphology", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "Decreased anatomical entity mass", - "phenotype by ontology source", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", + "oxoacid derivative", + "abnormal acid independent continuant level", + "Abnormal blood ion concentration (HPO)", + "kidney epithelium", + "Abnormal circulating fatty-acid anion concentration (HPO)", + "growth", + "abnormal blood glucose level", + "biological_process", + "protein-containing material entity", + "abnormal independent continuant phosphate level", + "Abnormal cellular physiology (HPO)", + "decreased level of purines", + "Abnormal homeostasis (HPO)", + "tube", + "increased level of chemical entity in independent continuant", "abnormal phosphate level", - "decreased level of chemical entity", - "decreased level of chemical entity in blood", - "Decreased body weight", - "Abnormality of the genitourinary system", - "abnormal amino-acid betaine level", - "abnormality of anatomical entity mass", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "abnormal chemical entity level", - "abnormal monocarboxylic acid metabolic process", + "abnormal urine hydrogencarbonate level", + "All (HPO)", + "organonitrogen compound metabolic process", + "genitourinary system", + "oxopurine", + "musculature", + "organic cyclic compound metabolic process", + "increased level of protein polypeptide chain in urine", + "abnormal role bodily fluid level", + "decreased muscle organ strength", + "Abnormality of the musculoskeletal system (HPO)", + "abnormal genitourinary system", + "main group molecular entity", + "inorganic ion homeostasis", + "Abnormal blood phosphate concentration (HPO)", + "material entity", + "entity", "abnormal renal system", - "abnormal small molecule metabolic process", - "Glycosuria", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormal blood phosphate concentration", - "Muscle weakness", - "delayed growth", - "abnormal purine nucleobase metabolic process", + "phenotype", + "polyatomic anion", + "Abnormality of the urinary system physiology (HPO)", + "gas molecular entity", "abnormal kidney", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "abnormal biological_process", - "abnormal role bodily fluid level", - "decreased level of phosphate in blood", - "Abnormality of urine bicarbonate level", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", - "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal enzyme concentration or activity", - "Increased susceptibility to fractures", - "Abnormal muscle physiology", - "Abnormal homeostasis", - "increased level of chemical entity in urine", - "abnormal cell", - "Abnormality of acid-base homeostasis", - "abnormal acid bodily fluid level", - "Abnormal circulating fatty-acid anion concentration", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", - "Abnormality of the kidney", - "decreased level of uric acid in blood", - "abnormal independent continuant glucose level", - "increased level of purines in independent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "Abnormal blood glucose concentration", - "Lacticaciduria", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormal urine sodium concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "Abnormal circulating metabolite concentration", - "abnormal urine sodium atom level", - "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", - "decreased level of amino-acid betaine", - "non-functional anatomical entity", - "abnormal sodium atom level", - "abnormal independent continuant sodium atom level", - "Abnormality of the mitochondrion", - "abnormal independent continuant monoatomic ion level", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "abnormal blood phosphate level", - "Hypophosphatemic rickets", - "decreased level of purines", - "Rickets", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abnormal primary metabolic process", - "increased level of nitrogen molecular entity in blood", - "abnormality of anatomical entity physiology", - "abnormal urine hydrogencarbonate level", + "Renal tubular dysfunction (HPO)", "abnormal urine uric acid level", - "abnormal respiratory system", - "abnormal cellular metabolic process", - "Abnormality of fluid regulation", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "abnormal nucleobase metabolic process", - "Hypouricemia", - "abnormal metabolic process", - "decreased role blood level", - "Hypokalemia", - "Decreased circulating purine concentration", + "bicyclic compound", + "Abnormal blood glucose concentration (HPO)", + "abnormal chemical entity level", + "Decreased anatomical entity mass", + "Abnormal urine phosphate concentration (HPO)", "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", - "increased level of nitrogen molecular entity in independent continuant", - "Hypophosphatemia", - "Abnormal circulating monocarboxylic acid concentration", - "increased level of chemical entity", - "Abnormal cellular physiology", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "abnormal carboxylic acid metabolic process", - "Abnormal blood monovalent inorganic cation concentration", - "abnormal glucose homeostasis", - "abnormal mitochondrion", - "abnormal carnitine metabolic process", - "abnormal amino acid derivative level", - "abnormal fatty acid metabolic process", - "abnormal cellular process", - "Abnormal circulating carnitine concentration", - "decreased level of chemical entity in independent continuant", - "Abnormality of mitochondrial metabolism", - "abnormal independent continuant uric acid level", - "abnormal blood carnitine level", - "abnormally decreased functionality of the nephron tubule", - "Abnormal cellular phenotype", - "Hypoglycemia", - "decreased level of carnitine in independent continuant", - "Abnormal urine potassium concentration", + "anatomical system", + "abnormal independent continuant chemical entity level", + "monoatomic cation homeostasis", + "Abnormal pulmonary interstitial morphology (HPO)", + "phosphoric acid derivative", + "urine", + "organism substance", + "nucleobase-containing small molecule metabolic process", + "multicellular anatomical structure", + "thoracic cavity element", + "abnormal phenotype by ontology source", + "quality", + "metal atom", + "multicellular organism", + "carnitine", + "oxoacid metabolic process", + "abnormal hematopoietic system", + "p-block molecular entity", + "abnormal urine phosphate level", + "abnormality of muscle organ physiology", "decreased size of the anatomical entity", - "increased level of potassium atom in urine", - "Constitutional symptom", - "abnormal blood potassium atom level", + "phosphate", + "tissue", + "molecular entity", "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium(1+) level", - "Abnormal blood potassium concentration", - "Abnormal blood cation concentration", - "abnormality of musculoskeletal system physiology", - "Pain", - "Hyperchloremic metabolic acidosis", - "abnormal hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "abnormal independent continuant hydrogencarbonate level", - "increased bodily fluid acid level", - "Bicarbonaturia", - "increased independent continuant base level", - "Increased urinary potassium", - "increased level of uric acid in independent continuant", - "abnormal independent continuant protein polypeptide chain level", + "Abnormal blood oxygen level (HPO)", + "abnormal blood uric acid level", + "Abnormal blood cation concentration (HPO)", + "musculature of body", + "Abnormality of fluid regulation (HPO)", + "organelle", + "abnormal glucose homeostasis", + "abdominal segment element", + "carbon oxoanion", + "abnormal bone element mass density", + "abnormal upper urinary tract", + "Abnormal glucose homeostasis (HPO)", + "abnormality of anatomical entity physiology", + "Decreased body weight (HPO)", + "cellular_component", + "muscle structure", + "chemical entity", + "Abnormality of mitochondrial metabolism (HPO)", + "anatomical entity", + "anatomical structure", + "small molecule metabolic process", + "renal system", + "abnormal anatomical entity", + "membrane-bounded organelle", + "racemate", + "trunk region element", ], }, ], diff --git a/backend/tests/fixtures/histopheno.py b/backend/tests/fixtures/histopheno.py index b30c3e980..0b20e35c4 100644 --- a/backend/tests/fixtures/histopheno.py +++ b/backend/tests/fixtures/histopheno.py @@ -6,17 +6,16 @@ def histopheno(): return { "id": "MONDO:0020121", "items": [ - {"label": "musculature", "count": 1685, "id": "HP:0003011"}, - {"label": "nervous_system", "count": 1076, "id": "HP:0000707"}, + {"label": "musculature", "count": 1689, "id": "HP:0003011"}, + {"label": "nervous_system", "count": 1077, "id": "HP:0000707"}, {"label": "head_neck", "count": 583, "id": "HP:0000152"}, - {"label": "skeletal_system", "count": 470, "id": "HP:0000924"}, + {"label": "skeletal_system", "count": 468, "id": "HP:0000924"}, + {"label": "respiratory", "count": 313, "id": "HP:0002086"}, {"label": "eye", "count": 289, "id": "HP:0000478"}, - {"label": "metabolism_homeostasis", "count": 215, "id": "HP:0001939"}, + {"label": "metabolism_homeostasis", "count": 214, "id": "HP:0001939"}, {"label": "cardiovascular_system", "count": 178, "id": "HP:0001626"}, {"label": "blood", "count": 177, "id": "HP:0001871"}, - {"label": "connective_tissue", "count": 161, "id": "HP:0003549"}, - {"label": "respiratory", "count": 150, "id": "HP:0002086"}, - {"label": "neoplasm", "count": 149, "id": "HP:0002664"}, + {"label": "connective_tissue", "count": 160, "id": "HP:0003549"}, {"label": "digestive_system", "count": 143, "id": "HP:0025031"}, {"label": "integument", "count": 47, "id": "HP:0001574"}, {"label": "genitourinary_system", "count": 44, "id": "HP:0000119"}, @@ -25,6 +24,7 @@ def histopheno(): {"label": "endocrine", "count": 25, "id": "HP:0000818"}, {"label": "immune_system", "count": 22, "id": "HP:0002715"}, {"label": "prenatal_or_birth", "count": 21, "id": "HP:0001197"}, + {"label": "neoplasm", "count": 7, "id": "HP:0002664"}, {"label": "breast", "count": 1, "id": "HP:0000769"}, ], } diff --git a/backend/tests/fixtures/histopheno_response.py b/backend/tests/fixtures/histopheno_response.py index 51ff9d6c5..6db34ede3 100644 --- a/backend/tests/fixtures/histopheno_response.py +++ b/backend/tests/fixtures/histopheno_response.py @@ -40,27 +40,27 @@ def histopheno_response(): "facet": "true", }, }, - "response": {"num_found": 4363, "start": 0, "docs": []}, + "response": {"num_found": 4355, "start": 0, "docs": []}, "facet_counts": { "facet_fields": {}, "facet_queries": { - 'object_closure:"HP:0000924"': 470, - 'object_closure:"HP:0000707"': 1076, + 'object_closure:"HP:0000924"': 468, + 'object_closure:"HP:0000707"': 1077, 'object_closure:"HP:0000152"': 583, 'object_closure:"HP:0001574"': 47, 'object_closure:"HP:0000478"': 289, 'object_closure:"HP:0001626"': 178, - 'object_closure:"HP:0001939"': 215, + 'object_closure:"HP:0001939"': 214, 'object_closure:"HP:0000119"': 44, 'object_closure:"HP:0025031"': 143, - 'object_closure:"HP:0002664"': 149, + 'object_closure:"HP:0002664"': 7, 'object_closure:"HP:0001871"': 177, 'object_closure:"HP:0002715"': 22, 'object_closure:"HP:0000818"': 25, - 'object_closure:"HP:0003011"': 1685, - 'object_closure:"HP:0002086"': 150, + 'object_closure:"HP:0003011"': 1689, + 'object_closure:"HP:0002086"': 313, 'object_closure:"HP:0000598"': 28, - 'object_closure:"HP:0003549"': 161, + 'object_closure:"HP:0003549"': 160, 'object_closure:"HP:0001197"': 21, 'object_closure:"HP:0001507"': 32, 'object_closure:"HP:0000769"': 1, diff --git a/backend/tests/fixtures/mapping_response.py b/backend/tests/fixtures/mapping_response.py index aaec1e9a0..8034d7715 100644 --- a/backend/tests/fixtures/mapping_response.py +++ b/backend/tests/fixtures/mapping_response.py @@ -29,7 +29,7 @@ def mapping_response(): "object_id": "DOID:9884", "object_label": "muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "5292faf1-de01-4ad1-bff6-f153901a7152", + "id": "79cebb50-dc15-427f-b98f-07fafbc2233e", }, { "subject_id": "MONDO:0020121", @@ -38,7 +38,7 @@ def mapping_response(): "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "aca5243c-67ba-4b1c-ac88-6c53853a2cdb", + "id": "eb2edd42-6ff7-4a82-bf6b-607b03f6a7c0", }, { "subject_id": "MONDO:0020121", @@ -47,7 +47,7 @@ def mapping_response(): "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "aa8b03b3-d02f-44b3-9256-8aee2c4400d8", + "id": "ca35bb5b-62a1-4e75-a43e-03e43352391f", }, { "subject_id": "MONDO:0020121", @@ -56,7 +56,7 @@ def mapping_response(): "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "f9362b76-05fe-4666-96b0-854bb2898567", + "id": "cf655e90-9c26-4fea-a78d-925aa43e2581", }, { "subject_id": "MONDO:0020121", @@ -64,7 +64,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "SCTID:73297009", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "b889cc72-99b6-423e-932a-4a3b4be9daef", + "id": "6fccb876-27ff-43e4-aeba-8cc362a6d134", }, { "subject_id": "MONDO:0020121", @@ -72,7 +72,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "UMLS:C0026850", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "24b22775-d7c7-4aee-ad6d-f61e1fee1ce4", + "id": "a4a8fd62-7c76-47e6-82b2-2dc0f4e0651f", }, { "subject_id": "MONDO:0020121", @@ -80,7 +80,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "mesh:D009136", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "96aa0222-74bd-4749-b777-ae2632461adf", + "id": "fa9fb840-d371-4eb9-bc1f-434abdb145e9", }, ], }, diff --git a/backend/tests/fixtures/mappings.py b/backend/tests/fixtures/mappings.py index c5a220b06..a5b1d6689 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": "5292faf1-de01-4ad1-bff6-f153901a7152", + "id": "79cebb50-dc15-427f-b98f-07fafbc2233e", }, { "subject_id": "MONDO:0020121", @@ -24,7 +24,7 @@ def mappings(): "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "aca5243c-67ba-4b1c-ac88-6c53853a2cdb", + "id": "eb2edd42-6ff7-4a82-bf6b-607b03f6a7c0", }, { "subject_id": "MONDO:0020121", @@ -33,7 +33,7 @@ def mappings(): "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "aa8b03b3-d02f-44b3-9256-8aee2c4400d8", + "id": "ca35bb5b-62a1-4e75-a43e-03e43352391f", }, { "subject_id": "MONDO:0020121", @@ -42,7 +42,7 @@ def mappings(): "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "f9362b76-05fe-4666-96b0-854bb2898567", + "id": "cf655e90-9c26-4fea-a78d-925aa43e2581", }, { "subject_id": "MONDO:0020121", @@ -51,7 +51,7 @@ def mappings(): "object_id": "SCTID:73297009", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "b889cc72-99b6-423e-932a-4a3b4be9daef", + "id": "6fccb876-27ff-43e4-aeba-8cc362a6d134", }, { "subject_id": "MONDO:0020121", @@ -60,7 +60,7 @@ def mappings(): "object_id": "UMLS:C0026850", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "24b22775-d7c7-4aee-ad6d-f61e1fee1ce4", + "id": "a4a8fd62-7c76-47e6-82b2-2dc0f4e0651f", }, { "subject_id": "MONDO:0020121", @@ -69,7 +69,7 @@ def mappings(): "object_id": "mesh:D009136", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "96aa0222-74bd-4749-b777-ae2632461adf", + "id": "fa9fb840-d371-4eb9-bc1f-434abdb145e9", }, ], } diff --git a/backend/tests/fixtures/node.py b/backend/tests/fixtures/node.py index b9b2fcd44..4a18f820d 100644 --- a/backend/tests/fixtures/node.py +++ b/backend/tests/fixtures/node.py @@ -41,8 +41,8 @@ def node(): "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "association_counts": [ - {"label": "Phenotypes", "count": 3875, "category": "biolink:DiseaseToPhenotypicFeatureAssociation"}, - {"label": "Causal Genes", "count": 125, "category": "biolink:CausalGeneToDiseaseAssociation"}, + {"label": "Phenotypes", "count": 3873, "category": "biolink:DiseaseToPhenotypicFeatureAssociation"}, + {"label": "Causal Genes", "count": 124, "category": "biolink:CausalGeneToDiseaseAssociation"}, {"label": "Correlated Genes", "count": 139, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, ], "node_hierarchy": { @@ -134,9 +134,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010311", + "id": "MONDO:0019950", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "congenital muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -155,9 +155,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010675", + "id": "MONDO:0023204", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "Fukuda-Miyanomae-Nakata syndrome", "full_name": None, "deprecated": None, "description": None, @@ -176,9 +176,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010676", + "id": "MONDO:0100228", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "LAMA2-related muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -197,9 +197,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010677", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "Becker muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -218,9 +218,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010678", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "muscular dystrophy, cardiac type", "full_name": None, "deprecated": None, "description": None, @@ -239,9 +239,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010679", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": None, "deprecated": None, "description": None, @@ -260,9 +260,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0016106", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "progressive muscular dystrophy", + "name": "muscular dystrophy, Mabry type", "full_name": None, "deprecated": None, "description": None, @@ -281,9 +281,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0018949", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": None, "deprecated": None, "description": None, @@ -302,9 +302,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0019950", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "congenital muscular dystrophy", + "name": "Duchenne muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -323,9 +323,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0023204", + "id": "MONDO:0016106", "category": "biolink:Disease", - "name": "Fukuda-Miyanomae-Nakata syndrome", + "name": "progressive muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -344,9 +344,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0100228", + "id": "MONDO:0018949", "category": "biolink:Disease", - "name": "LAMA2-related muscular dystrophy", + "name": "distal myopathy", "full_name": None, "deprecated": None, "description": None, diff --git a/backend/tests/fixtures/object_formatted.py b/backend/tests/fixtures/object_formatted.py index 7d65699f6..d8763a7ee 100644 --- a/backend/tests/fixtures/object_formatted.py +++ b/backend/tests/fixtures/object_formatted.py @@ -65,12 +65,12 @@ def node_json(): "association_counts": [ { "label": "Phenotypes", - "count": 3875, + "count": 3873, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { "label": "Causal Genes", - "count": 125, + "count": 124, "category": "biolink:CausalGeneToDiseaseAssociation" }, { @@ -168,9 +168,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010311", + "id": "MONDO:0019950", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "congenital muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -189,9 +189,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010675", + "id": "MONDO:0023204", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "Fukuda-Miyanomae-Nakata syndrome", "full_name": null, "deprecated": null, "description": null, @@ -210,9 +210,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010676", + "id": "MONDO:0100228", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "LAMA2-related muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -231,9 +231,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010677", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "Becker muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -252,9 +252,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010678", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "muscular dystrophy, cardiac type", "full_name": null, "deprecated": null, "description": null, @@ -273,9 +273,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010679", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": null, "deprecated": null, "description": null, @@ -294,9 +294,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0016106", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "progressive muscular dystrophy", + "name": "muscular dystrophy, Mabry type", "full_name": null, "deprecated": null, "description": null, @@ -315,9 +315,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0018949", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": null, "deprecated": null, "description": null, @@ -336,9 +336,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0019950", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "congenital muscular dystrophy", + "name": "Duchenne muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -357,9 +357,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0023204", + "id": "MONDO:0016106", "category": "biolink:Disease", - "name": "Fukuda-Miyanomae-Nakata syndrome", + "name": "progressive muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -378,9 +378,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0100228", + "id": "MONDO:0018949", "category": "biolink:Disease", - "name": "LAMA2-related muscular dystrophy", + "name": "distal myopathy", "full_name": null, "deprecated": null, "description": null, @@ -408,7 +408,7 @@ 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 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. [] phenio_nodes None None None [] http://purl.obolibrary.org/obo/MONDO_0020121 MONDO [] [] [] [] 0 None [] [] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': None}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'mesh:D009136', 'url': None}] [] {'id': 'phenio', 'url': 'https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#'} [{'label': 'Phenotypes', 'count': 3875, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Genes', 'count': 125, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Genes', 'count': 139, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}] {'super_classes': [{'id': 'MONDO:0019056', 'category': 'biolink:Disease', 'name': 'neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0700223', 'category': 'biolink:Disease', 'name': 'hereditary skeletal muscle disorder', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], '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': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], '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. [] phenio_nodes None None None [] http://purl.obolibrary.org/obo/MONDO_0020121 MONDO [] [] [] [] 0 None [] [] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': None}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'mesh:D009136', 'url': None}] [] {'id': 'phenio', 'url': 'https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#'} [{'label': 'Phenotypes', 'count': 3873, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Genes', 'count': 124, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Genes', 'count': 139, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}] {'super_classes': [{'id': 'MONDO:0019056', 'category': 'biolink:Disease', 'name': 'neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0700223', 'category': 'biolink:Disease', 'name': 'hereditary skeletal muscle disorder', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], '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': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}]} """ @@ -417,10 +417,10 @@ def node_yaml(): return """ association_counts: - category: biolink:DiseaseToPhenotypicFeatureAssociation - count: 3875 + count: 3873 label: Phenotypes - category: biolink:CausalGeneToDiseaseAssociation - count: 125 + count: 124 label: Causal Genes - category: biolink:CorrelatedGeneToDiseaseAssociation count: 139 @@ -500,10 +500,10 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010311 + id: MONDO:0019950 in_taxon: null in_taxon_label: null - name: Becker muscular dystrophy + name: congenital muscular dystrophy namespace: null provided_by: null symbol: null @@ -519,10 +519,10 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010675 + id: MONDO:0023204 in_taxon: null in_taxon_label: null - name: muscular dystrophy, cardiac type + name: Fukuda-Miyanomae-Nakata syndrome namespace: null provided_by: null symbol: null @@ -538,10 +538,10 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010676 + id: MONDO:0100228 in_taxon: null in_taxon_label: null - name: muscular dystrophy, Hemizygous lethal type + name: LAMA2-related muscular dystrophy namespace: null provided_by: null symbol: null @@ -557,10 +557,10 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010677 + id: MONDO:0010311 in_taxon: null in_taxon_label: null - name: muscular dystrophy, Mabry type + name: Becker muscular dystrophy namespace: null provided_by: null symbol: null @@ -576,10 +576,10 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010678 + id: MONDO:0010675 in_taxon: null in_taxon_label: null - name: muscular dystrophy, progressive Pectorodorsal + name: muscular dystrophy, cardiac type namespace: null provided_by: null symbol: null @@ -595,10 +595,10 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010679 + id: MONDO:0010676 in_taxon: null in_taxon_label: null - name: Duchenne muscular dystrophy + name: muscular dystrophy, Hemizygous lethal type namespace: null provided_by: null symbol: null @@ -614,10 +614,10 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0016106 + id: MONDO:0010677 in_taxon: null in_taxon_label: null - name: progressive muscular dystrophy + name: muscular dystrophy, Mabry type namespace: null provided_by: null symbol: null @@ -633,10 +633,10 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0018949 + id: MONDO:0010678 in_taxon: null in_taxon_label: null - name: distal myopathy + name: muscular dystrophy, progressive Pectorodorsal namespace: null provided_by: null symbol: null @@ -652,10 +652,10 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0019950 + id: MONDO:0010679 in_taxon: null in_taxon_label: null - name: congenital muscular dystrophy + name: Duchenne muscular dystrophy namespace: null provided_by: null symbol: null @@ -671,10 +671,10 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0023204 + id: MONDO:0016106 in_taxon: null in_taxon_label: null - name: Fukuda-Miyanomae-Nakata syndrome + name: progressive muscular dystrophy namespace: null provided_by: null symbol: null @@ -690,10 +690,10 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0100228 + id: MONDO:0018949 in_taxon: null in_taxon_label: null - name: LAMA2-related muscular dystrophy + name: distal myopathy namespace: null provided_by: null symbol: null diff --git a/backend/tests/fixtures/object_headers.py b/backend/tests/fixtures/object_headers.py index 11a3fedfe..d330b43ef 100644 --- a/backend/tests/fixtures/object_headers.py +++ b/backend/tests/fixtures/object_headers.py @@ -32,6 +32,10 @@ def association_headers(): "evidence_count", "has_evidence", "has_evidence_links", + "has_count", + "has_total", + "has_percentage", + "has_quotient", "grouping_key", "provided_by", "provided_by_link", diff --git a/backend/tests/fixtures/phenotype_explorer_compare.py b/backend/tests/fixtures/phenotype_explorer_compare.py index fd4fbeaf8..033f9c27f 100644 --- a/backend/tests/fixtures/phenotype_explorer_compare.py +++ b/backend/tests/fixtures/phenotype_explorer_compare.py @@ -5,8 +5,8 @@ def phenotype_explorer_compare(): return { "subject_termset": { - "MP:0002169": {"id": "MP:0002169", "label": "no abnormal phenotype detected (MPO)"}, "MP:0010771": {"id": "MP:0010771", "label": "integument phenotype (MPO)"}, + "MP:0002169": {"id": "MP:0002169", "label": "no abnormal phenotype detected (MPO)"}, }, "object_termset": {"HP:0004325": {"id": "HP:0004325", "label": "Decreased body weight (HPO)"}}, "subject_best_matches": { @@ -69,8 +69,8 @@ def phenotype_explorer_compare(): "HP:0004325": { "match_source": "HP:0004325", "match_source_label": "Decreased body weight (HPO)", - "match_target": "MP:0010771", - "match_target_label": "integument phenotype (MPO)", + "match_target": "MP:0002169", + "match_target_label": "no abnormal phenotype detected (MPO)", "score": 1.5540019332516637, "match_subsumer": None, "match_subsumer_label": None, @@ -78,7 +78,7 @@ def phenotype_explorer_compare(): "subject_id": "HP:0004325", "subject_label": None, "subject_source": None, - "object_id": "MP:0010771", + "object_id": "MP:0002169", "object_label": None, "object_source": None, "ancestor_id": "UPHENO:0001003", @@ -87,10 +87,10 @@ def phenotype_explorer_compare(): "object_information_content": None, "subject_information_content": None, "ancestor_information_content": 1.5540019332516637, - "jaccard_similarity": 0.24, + "jaccard_similarity": 0.23076923076923078, "cosine_similarity": None, "dice_similarity": None, - "phenodigm_score": 0.61070489107293, + "phenodigm_score": 0.5988454147360435, }, } }, diff --git a/backend/tests/fixtures/phenotype_explorer_search.py b/backend/tests/fixtures/phenotype_explorer_search.py index 187999108..26acf3d76 100644 --- a/backend/tests/fixtures/phenotype_explorer_search.py +++ b/backend/tests/fixtures/phenotype_explorer_search.py @@ -27,38 +27,60 @@ def phenotype_explorer_search(): uri="https://identifiers.org/zfin/ZDB-GENE-990415-269", namespace="ZFIN", has_phenotype=["ZP:0018569"], - has_phenotype_label=["myeloid cell development absent, abnormal"], + has_phenotype_label=["myeloid cell development absent, abnormal (ZPO)"], has_phenotype_closure=[ - "BFO:0000020", - "UPHENO:0001001", - "UPHENO:0034024", - "ZP:0018569", + "GO:0048856", + "GO:0048869", + "PATO:0000001", + "BFO:0000003", "ZP:00000000", + "GO:0030099", + "GO:0032502", + "UPHENO:0034024", + "UPHENO:0001001", + "BFO:0000015", "UPHENO:0001002", - "BFO:0000002", + "ZP:0018569", "UPHENO:0001005", - "UPHENO:0001003", "UPHENO:0078513", "ZP:0131284", - "ZP:0014956", - "PATO:0000001", + "GO:0008150", + "GO:0030097", + "BFO:0000002", + "BFO:0000020", + "GO:0030154", + "GO:0009987", + "UPHENO:0001003", + "GO:0048468", + "GO:0061515", "BFO:0000001", ], has_phenotype_closure_label=[ - "specifically dependent continuant", - "myeloid cell development absent, abnormal", - "biological_process quality, abnormal", - "Zebrafish Phenotype", - "quality", "absent myeloid cell development", - "Phenotypic abnormality", - "continuant", + "quality", + "cell differentiation", + "cell development", "abnormal phenotype by ontology source", - "absent biological_process", "entity", - "phenotype", + "myeloid cell development absent, abnormal (ZPO)", "phenotype by ontology source", - "hemopoiesis quality, abnormal", + "phenotype", + "Zebrafish Phenotype (ZPO)", + "myeloid cell development", + "myeloid cell differentiation", + "cellular process", + "absent biological_process", + "developmental process", + "continuant", + "biological_process", + "process", + "anatomical structure development", + "hemopoiesis", + "occurrent", + "cellular developmental process", + "specifically dependent continuant", + "biological_process quality, abnormal (ZPO)", + "Phenotypic abnormality", ], has_phenotype_count=1, ), @@ -68,8 +90,8 @@ def phenotype_explorer_search(): "ZP:0018569": TermInfo(id="ZP:0018569", label="myeloid cell development absent, abnormal (ZPO)") }, object_termset={ - "HP:0002104": TermInfo(id="HP:0002104", label="Apnea (HPO)"), "HP:0012378": TermInfo(id="HP:0012378", label="Fatigue (HPO)"), + "HP:0002104": TermInfo(id="HP:0002104", label="Apnea (HPO)"), }, subject_best_matches={ "ZP:0018569": BestMatch( @@ -185,46 +207,84 @@ def phenotype_explorer_search(): synonym=["si:ch211-258l4.8"], uri="https://identifiers.org/zfin/ZDB-GENE-050208-773", 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 (ZPO)", + "myeloid cell development absent, abnormal (ZPO)", ], has_phenotype_closure=[ - "UPHENO:0078511", - "BFO:0000020", - "UPHENO:0001001", - "UPHENO:0034024", - "ZP:0018569", + "GO:0030099", + "UPHENO:0078513", + "GO:0061515", + "GO:0048869", + "GO:0060215", + "BFO:0000003", + "ZP:0018568", + "PATO:0000001", + "GO:0032502", "ZP:00000000", - "UPHENO:0001002", - "BFO:0000002", - "UPHENO:0001005", + "GO:0032501", + "UPHENO:0001001", + "BFO:0000015", + "GO:0030154", + "GO:0009987", + "GO:0007275", "UPHENO:0001003", - "UPHENO:0078513", + "GO:0009790", + "UPHENO:0001005", + "GO:0048468", + "GO:0035162", + "GO:0048856", + "UPHENO:0078511", + "GO:0030097", + "BFO:0000002", "ZP:0131284", + "GO:0048513", + "GO:0008150", + "UPHENO:0034024", "ZP:0014956", - "ZP:0018568", - "PATO:0000001", + "BFO:0000020", + "GO:0048568", + "ZP:0018569", + "UPHENO:0001002", "BFO:0000001", ], has_phenotype_closure_label=[ - "absent primitive hemopoiesis", - "specifically dependent continuant", - "myeloid cell development absent, abnormal", - "biological_process quality, abnormal", - "Zebrafish Phenotype", - "quality", "absent myeloid cell development", - "Phenotypic abnormality", - "primitive hemopoiesis absent, abnormal", + "myeloid cell development absent, abnormal (ZPO)", + "myeloid cell differentiation", + "myeloid cell development", + "animal organ development", + "biological_process", "continuant", - "abnormal phenotype by ontology source", - "absent biological_process", "entity", + "multicellular organismal process", + "cellular process", + "embryonic hemopoiesis", + "embryonic organ development", + "process", + "hemopoiesis quality, abnormal (ZPO)", + "Zebrafish Phenotype (ZPO)", + "primitive hemopoiesis", + "embryo development", + "developmental process", + "absent biological_process", + "absent primitive hemopoiesis", + "abnormal phenotype by ontology source", + "quality", + "cell differentiation", + "cell development", "phenotype", "phenotype by ontology source", - "hemopoiesis quality, abnormal", + "specifically dependent continuant", + "biological_process quality, abnormal (ZPO)", + "primitive hemopoiesis absent, abnormal (ZPO)", + "anatomical structure development", + "multicellular organism development", + "hemopoiesis", + "occurrent", + "cellular developmental process", + "Phenotypic abnormality", ], has_phenotype_count=2, ), @@ -235,8 +295,8 @@ def phenotype_explorer_search(): "ZP:0018568": TermInfo(id="ZP:0018568", label="primitive hemopoiesis absent, abnormal (ZPO)"), }, object_termset={ - "HP:0012378": TermInfo(id="HP:0012378", label="Fatigue (HPO)"), "HP:0002104": TermInfo(id="HP:0002104", label="Apnea (HPO)"), + "HP:0012378": TermInfo(id="HP:0012378", label="Fatigue (HPO)"), }, subject_best_matches={ "ZP:0018568": BestMatch( @@ -325,8 +385,8 @@ def phenotype_explorer_search(): "HP:0012378": BestMatch( match_source="HP:0012378", match_source_label="Fatigue (HPO)", - match_target="ZP:0018568", - match_target_label="primitive hemopoiesis absent, abnormal (ZPO)", + match_target="ZP:0018569", + match_target_label="myeloid cell development absent, abnormal (ZPO)", score=1.6836208034928104, match_subsumer=None, match_subsumer_label=None, @@ -334,7 +394,7 @@ def phenotype_explorer_search(): subject_id="HP:0012378", subject_label=None, subject_source=None, - object_id="ZP:0018568", + object_id="ZP:0018569", object_label=None, object_source=None, ancestor_id="UPHENO:0001005", @@ -343,10 +403,10 @@ def phenotype_explorer_search(): object_information_content=None, subject_information_content=None, ancestor_information_content=1.6836208034928104, - jaccard_similarity=0.4444444444444444, + jaccard_similarity=0.47058823529411764, cosine_similarity=None, dice_similarity=None, - phenodigm_score=0.8650294287846346, + phenodigm_score=0.8901079388591847, ), ), }, @@ -379,56 +439,94 @@ def phenotype_explorer_search(): namespace="ZFIN", has_phenotype=["ZP:0018568", "ZP:0018569"], has_phenotype_label=[ - "primitive hemopoiesis absent, abnormal", - "myeloid cell development absent, abnormal", + "primitive hemopoiesis absent, abnormal (ZPO)", + "myeloid cell development absent, abnormal (ZPO)", ], has_phenotype_closure=[ - "ZP:0018569", - "BFO:0000020", - "UPHENO:0001001", - "UPHENO:0034024", - "UPHENO:0078511", + "GO:0030099", + "UPHENO:0078513", + "GO:0061515", + "GO:0048869", + "GO:0060215", + "BFO:0000003", + "ZP:0018568", + "PATO:0000001", + "GO:0032502", "ZP:00000000", - "UPHENO:0001002", + "GO:0032501", + "UPHENO:0001001", + "BFO:0000015", + "GO:0030154", + "GO:0009987", + "GO:0007275", + "UPHENO:0001003", + "GO:0009790", "UPHENO:0001005", + "GO:0048468", + "GO:0035162", + "GO:0048856", + "UPHENO:0078511", + "GO:0030097", "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0078513", "ZP:0131284", + "GO:0048513", + "GO:0008150", + "UPHENO:0034024", "ZP:0014956", - "ZP:0018568", - "PATO:0000001", + "BFO:0000020", + "GO:0048568", + "ZP:0018569", + "UPHENO:0001002", "BFO:0000001", ], has_phenotype_closure_label=[ "absent myeloid cell development", - "myeloid cell development absent, abnormal", - "specifically dependent continuant", - "abnormal phenotype by ontology source", + "myeloid cell development absent, abnormal (ZPO)", + "myeloid cell differentiation", + "myeloid cell development", + "animal organ development", + "biological_process", + "continuant", + "entity", + "multicellular organismal process", + "cellular process", + "embryonic hemopoiesis", + "embryonic organ development", + "process", + "hemopoiesis quality, abnormal (ZPO)", + "Zebrafish Phenotype (ZPO)", + "primitive hemopoiesis", + "embryo development", + "developmental process", "absent biological_process", "absent primitive hemopoiesis", - "biological_process quality, abnormal", - "Zebrafish Phenotype", + "abnormal phenotype by ontology source", "quality", - "Phenotypic abnormality", - "primitive hemopoiesis absent, abnormal", - "continuant", - "entity", + "cell differentiation", + "cell development", "phenotype", "phenotype by ontology source", - "hemopoiesis quality, abnormal", + "specifically dependent continuant", + "biological_process quality, abnormal (ZPO)", + "primitive hemopoiesis absent, abnormal (ZPO)", + "anatomical structure development", + "multicellular organism development", + "hemopoiesis", + "occurrent", + "cellular developmental process", + "Phenotypic abnormality", ], has_phenotype_count=2, ), score=7.234842285670967, similarity=TermSetPairwiseSimilarity( subject_termset={ - "ZP:0018569": TermInfo(id="ZP:0018569", label="myeloid cell development absent, abnormal (ZPO)"), "ZP:0018568": TermInfo(id="ZP:0018568", label="primitive hemopoiesis absent, abnormal (ZPO)"), + "ZP:0018569": TermInfo(id="ZP:0018569", label="myeloid cell development absent, abnormal (ZPO)"), }, object_termset={ - "HP:0002104": TermInfo(id="HP:0002104", label="Apnea (HPO)"), "HP:0012378": TermInfo(id="HP:0012378", label="Fatigue (HPO)"), + "HP:0002104": TermInfo(id="HP:0002104", label="Apnea (HPO)"), }, subject_best_matches={ "ZP:0018568": BestMatch( @@ -490,8 +588,8 @@ def phenotype_explorer_search(): "HP:0002104": BestMatch( match_source="HP:0002104", match_source_label="Apnea (HPO)", - match_target="ZP:0018569", - match_target_label="myeloid cell development absent, abnormal (ZPO)", + match_target="ZP:0018568", + match_target_label="primitive hemopoiesis absent, abnormal (ZPO)", score=9.08524944639702, match_subsumer=None, match_subsumer_label=None, @@ -499,7 +597,7 @@ def phenotype_explorer_search(): subject_id="HP:0002104", subject_label=None, subject_source=None, - object_id="ZP:0018569", + object_id="ZP:0018568", object_label=None, object_source=None, ancestor_id="UPHENO:0034024", @@ -508,10 +606,10 @@ def phenotype_explorer_search(): object_information_content=None, subject_information_content=None, ancestor_information_content=9.08524944639702, - jaccard_similarity=0.34615384615384615, + jaccard_similarity=0.3333333333333333, cosine_similarity=None, dice_similarity=None, - phenodigm_score=1.773384910034319, + phenodigm_score=1.7402346054863809, ), ), "HP:0012378": BestMatch( @@ -578,52 +676,90 @@ def phenotype_explorer_search(): namespace="ZFIN", has_phenotype=["ZP:0018569", "ZP:0018568"], has_phenotype_label=[ - "myeloid cell development absent, abnormal", - "primitive hemopoiesis absent, abnormal", + "myeloid cell development absent, abnormal (ZPO)", + "primitive hemopoiesis absent, abnormal (ZPO)", ], has_phenotype_closure=[ + "GO:0060215", + "GO:0009790", + "GO:0032501", + "ZP:0014956", "UPHENO:0078511", - "BFO:0000020", - "UPHENO:0001001", - "UPHENO:0034024", - "ZP:0018569", + "GO:0048856", + "GO:0048869", + "ZP:0018568", + "PATO:0000001", + "BFO:0000003", "ZP:00000000", + "GO:0030099", + "GO:0032502", + "UPHENO:0034024", + "UPHENO:0001001", + "BFO:0000015", "UPHENO:0001002", - "BFO:0000002", + "ZP:0018569", "UPHENO:0001005", - "UPHENO:0001003", "UPHENO:0078513", "ZP:0131284", - "ZP:0014956", - "ZP:0018568", - "PATO:0000001", + "GO:0048513", + "GO:0008150", + "GO:0030097", + "BFO:0000002", + "GO:0048568", + "BFO:0000020", + "GO:0030154", + "GO:0009987", + "GO:0007275", + "UPHENO:0001003", + "GO:0035162", + "GO:0048468", + "GO:0061515", "BFO:0000001", ], has_phenotype_closure_label=[ - "absent primitive hemopoiesis", - "specifically dependent continuant", - "myeloid cell development absent, abnormal", - "biological_process quality, abnormal", - "Zebrafish Phenotype", - "quality", + "primitive hemopoiesis", + "embryo development", + "primitive hemopoiesis absent, abnormal (ZPO)", + "multicellular organism development", "absent myeloid cell development", - "Phenotypic abnormality", - "primitive hemopoiesis absent, abnormal", - "continuant", + "quality", + "cell differentiation", + "cell development", "abnormal phenotype by ontology source", - "absent biological_process", + "multicellular organismal process", "entity", - "phenotype", + "myeloid cell development absent, abnormal (ZPO)", "phenotype by ontology source", - "hemopoiesis quality, abnormal", + "phenotype", + "Zebrafish Phenotype (ZPO)", + "animal organ development", + "myeloid cell development", + "myeloid cell differentiation", + "embryonic hemopoiesis", + "cellular process", + "absent primitive hemopoiesis", + "absent biological_process", + "developmental process", + "continuant", + "biological_process", + "hemopoiesis quality, abnormal (ZPO)", + "embryonic organ development", + "process", + "anatomical structure development", + "hemopoiesis", + "occurrent", + "cellular developmental process", + "specifically dependent continuant", + "biological_process quality, abnormal (ZPO)", + "Phenotypic abnormality", ], has_phenotype_count=2, ), score=7.234842285670967, similarity=TermSetPairwiseSimilarity( subject_termset={ - "ZP:0018568": TermInfo(id="ZP:0018568", label="primitive hemopoiesis absent, abnormal (ZPO)"), "ZP:0018569": TermInfo(id="ZP:0018569", label="myeloid cell development absent, abnormal (ZPO)"), + "ZP:0018568": TermInfo(id="ZP:0018568", label="primitive hemopoiesis absent, abnormal (ZPO)"), }, object_termset={ "HP:0002104": TermInfo(id="HP:0002104", label="Apnea (HPO)"), @@ -689,8 +825,8 @@ def phenotype_explorer_search(): "HP:0002104": BestMatch( match_source="HP:0002104", match_source_label="Apnea (HPO)", - match_target="ZP:0018569", - match_target_label="myeloid cell development absent, abnormal (ZPO)", + match_target="ZP:0018568", + match_target_label="primitive hemopoiesis absent, abnormal (ZPO)", score=9.08524944639702, match_subsumer=None, match_subsumer_label=None, @@ -698,7 +834,7 @@ def phenotype_explorer_search(): subject_id="HP:0002104", subject_label=None, subject_source=None, - object_id="ZP:0018569", + object_id="ZP:0018568", object_label=None, object_source=None, ancestor_id="UPHENO:0034024", @@ -707,10 +843,10 @@ def phenotype_explorer_search(): object_information_content=None, subject_information_content=None, ancestor_information_content=9.08524944639702, - jaccard_similarity=0.34615384615384615, + jaccard_similarity=0.3333333333333333, cosine_similarity=None, dice_similarity=None, - phenodigm_score=1.773384910034319, + phenodigm_score=1.7402346054863809, ), ), "HP:0012378": BestMatch( @@ -768,58 +904,96 @@ def phenotype_explorer_search(): synonym=["wu:fc20h08", "zgc:64135", "id:ibd3034", "sb:cb845", "ak3l1", "wu:fa02c11"], uri="https://identifiers.org/zfin/ZDB-GENE-040426-2142", 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 (ZPO)", + "primitive hemopoiesis absent, abnormal (ZPO)", ], has_phenotype_closure=[ - "ZP:0018569", - "BFO:0000020", - "UPHENO:0001001", - "UPHENO:0034024", + "GO:0060215", + "GO:0009790", + "GO:0032501", + "ZP:0014956", "UPHENO:0078511", + "GO:0048856", + "GO:0048869", + "ZP:0018568", + "PATO:0000001", + "BFO:0000003", "ZP:00000000", + "GO:0030099", + "GO:0032502", + "UPHENO:0034024", + "UPHENO:0001001", + "BFO:0000015", "UPHENO:0001002", + "ZP:0018569", "UPHENO:0001005", - "BFO:0000002", - "UPHENO:0001003", "UPHENO:0078513", "ZP:0131284", - "ZP:0014956", - "ZP:0018568", - "PATO:0000001", + "GO:0048513", + "GO:0008150", + "GO:0030097", + "BFO:0000002", + "GO:0048568", + "BFO:0000020", + "GO:0030154", + "GO:0009987", + "GO:0007275", + "UPHENO:0001003", + "GO:0035162", + "GO:0048468", + "GO:0061515", "BFO:0000001", ], has_phenotype_closure_label=[ + "primitive hemopoiesis", + "embryo development", + "primitive hemopoiesis absent, abnormal (ZPO)", + "multicellular organism development", "absent myeloid cell development", - "myeloid cell development absent, abnormal", - "specifically dependent continuant", - "abnormal phenotype by ontology source", - "absent biological_process", - "absent primitive hemopoiesis", - "biological_process quality, abnormal", - "Zebrafish Phenotype", "quality", - "Phenotypic abnormality", - "primitive hemopoiesis absent, abnormal", - "continuant", + "cell differentiation", + "cell development", + "abnormal phenotype by ontology source", + "multicellular organismal process", "entity", - "phenotype", + "myeloid cell development absent, abnormal (ZPO)", "phenotype by ontology source", - "hemopoiesis quality, abnormal", + "phenotype", + "Zebrafish Phenotype (ZPO)", + "animal organ development", + "myeloid cell development", + "myeloid cell differentiation", + "embryonic hemopoiesis", + "cellular process", + "absent primitive hemopoiesis", + "absent biological_process", + "developmental process", + "continuant", + "biological_process", + "hemopoiesis quality, abnormal (ZPO)", + "embryonic organ development", + "process", + "anatomical structure development", + "hemopoiesis", + "occurrent", + "cellular developmental process", + "specifically dependent continuant", + "biological_process quality, abnormal (ZPO)", + "Phenotypic abnormality", ], has_phenotype_count=2, ), score=7.234842285670967, similarity=TermSetPairwiseSimilarity( subject_termset={ - "ZP:0018568": TermInfo(id="ZP:0018568", label="primitive hemopoiesis absent, abnormal (ZPO)"), "ZP:0018569": TermInfo(id="ZP:0018569", label="myeloid cell development absent, abnormal (ZPO)"), + "ZP:0018568": TermInfo(id="ZP:0018568", label="primitive hemopoiesis absent, abnormal (ZPO)"), }, object_termset={ - "HP:0012378": TermInfo(id="HP:0012378", label="Fatigue (HPO)"), "HP:0002104": TermInfo(id="HP:0002104", label="Apnea (HPO)"), + "HP:0012378": TermInfo(id="HP:0012378", label="Fatigue (HPO)"), }, subject_best_matches={ "ZP:0018568": BestMatch( @@ -881,8 +1055,8 @@ def phenotype_explorer_search(): "HP:0002104": BestMatch( match_source="HP:0002104", match_source_label="Apnea (HPO)", - match_target="ZP:0018568", - match_target_label="primitive hemopoiesis absent, abnormal (ZPO)", + match_target="ZP:0018569", + match_target_label="myeloid cell development absent, abnormal (ZPO)", score=9.08524944639702, match_subsumer=None, match_subsumer_label=None, @@ -890,7 +1064,7 @@ def phenotype_explorer_search(): subject_id="HP:0002104", subject_label=None, subject_source=None, - object_id="ZP:0018568", + object_id="ZP:0018569", object_label=None, object_source=None, ancestor_id="UPHENO:0034024", @@ -899,10 +1073,10 @@ def phenotype_explorer_search(): object_information_content=None, subject_information_content=None, ancestor_information_content=9.08524944639702, - jaccard_similarity=0.3333333333333333, + jaccard_similarity=0.34615384615384615, cosine_similarity=None, dice_similarity=None, - phenodigm_score=1.7402346054863809, + phenodigm_score=1.773384910034319, ), ), "HP:0012378": BestMatch( @@ -955,62 +1129,172 @@ def phenotype_explorer_search(): uri="https://identifiers.org/zfin/ZDB-GENE-070117-2249", namespace="ZFIN", has_phenotype=["ZP:0000945", "ZP:0100294"], - has_phenotype_label=["pigment cell quality, abnormal", "visual perception absent, abnormal"], + has_phenotype_label=[ + "pigment cell quality, abnormal (ZPO)", + "visual perception absent, abnormal (ZPO)", + ], has_phenotype_closure=[ - "UPHENO:0078456", - "ZP:0100294", + "GO:0003008", + "GO:0007601", + "BFO:0000003", "ZP:0131284", + "GO:0050953", + "ZP:0001840", + "GO:0008150", + "ZP:0100294", + "NCBITaxon:186627", + "NCBITaxon:33213", + "NCBITaxon:1", + "UBERON:0001062", + "ZP:0100009", + "NCBITaxon:33208", + "CL:0000003", + "ZFA:0001094", + "ZP:0107301", + "BFO:0000020", + "UBERON:0000465", + "NCBITaxon:32519", + "ZP:0000945", + "NCBITaxon:7742", + "PATO:0000001", "ZP:0107296", - "UPHENO:0002536", + "ZP:00000000", + "BFO:0000004", + "GO:0032501", + "NCBITaxon:2759", + "CL:0000325", + "NCBITaxon:186625", + "NCBITaxon:7952", "BFO:0000001", - "PATO:0000001", + "NCBITaxon:7711", + "NCBITaxon:2743711", "ZP:0107311", - "UPHENO:0001001", - "ZP:0000945", - "BFO:0000020", - "ZP:0107301", - "ZP:00000000", - "UPHENO:0001002", - "ZP:0001840", - "BFO:0000002", - "UPHENO:0001005", "UPHENO:0001003", + "OBI:0100026", + "BFO:0000040", + "UPHENO:0001005", + "NCBITaxon:2743709", "UPHENO:0034024", - "ZP:0100009", + "NCBITaxon:7954", + "NCBITaxon:117571", + "NCBITaxon:33154", + "NCBITaxon:117570", + "UBERON:0000061", + "NCBITaxon:41665", + "ZFA:0100000", + "GO:0050877", + "NCBITaxon:186623", + "CL:0000147", + "UPHENO:0078456", + "NCBITaxon:131567", + "ZFA:0009090", + "NCBITaxon:32443", + "CL:0000000", + "NCBITaxon:89593", + "NCBITaxon:6072", + "GO:0007600", + "BFO:0000002", + "NCBITaxon:1489341", + "ZFA:0009000", + "NCBITaxon:7898", + "UBERON:0010000", + "UPHENO:0002536", + "NCBITaxon:186634", + "NCBITaxon:30727", + "UPHENO:0001002", + "NCBITaxon:186626", + "NCBITaxon:7776", + "UBERON:0000468", + "BFO:0000015", + "NCBITaxon:33511", + "ZFA:0000037", + "UPHENO:0001001", ], has_phenotype_closure_label=[ - "absent biological_process", - "visual perception quality, abnormal", - "visual perception absent, abnormal", - "absent visual perception", - "specifically dependent continuant", + "visual perception quality, abnormal (ZPO)", + "sensory perception of light stimulus", + "visual perception absent, abnormal (ZPO)", + "multicellular organismal process", + "visual perception", + "occurrent", + "sensory perception", + "nervous system process", + "biological_process", + "biological_process quality, abnormal (ZPO)", + "Cypriniformes", + "Cyprinoidei", + "Actinopterygii", + "Euteleostomi", + "anatomical entity", + "zebrafish anatomical entity quality, abnormal (ZPO)", + "anatomical structure quality, abnormal (ZPO)", + "process", + "abnormal phenotype by ontology source", + "Cypriniphysae", + "Otophysi", + "cellular organisms", + "material anatomical entity", + "material entity", + "cell quality, abnormal (ZPO)", + "pigment cell quality, abnormal (ZPO)", + "Eumetazoa", + "zebrafish anatomical entity", "entity", + "Osteoglossocephalai", + "absent visual perception", + "whole organism quality, abnormal (ZPO)", + "Danionidae", + "system process", + "Danio", + "Opisthokonta", + "Bilateria", + "Eukaryota", + "Deuterostomia", + "Metazoa", + "independent continuant", + "Ostariophysi", + "Zebrafish Phenotype (ZPO)", "abnormal anatomical entity", - "anatomical structure quality, abnormal", - "zebrafish anatomical entity quality, abnormal", - "Phenotypic abnormality", - "pigment cell quality, abnormal", - "continuant", - "cell quality, abnormal", - "biological_process quality, abnormal", - "whole organism quality, abnormal", - "Zebrafish Phenotype", - "quality", - "abnormal phenotype by ontology source", "phenotype", "phenotype by ontology source", + "specifically dependent continuant", + "Chordata", + "continuant", + "Craniata ", + "stuff accumulating cell", + "Teleostei", + "cell", + "multicellular anatomical structure", + "Gnathostomata ", + "Phenotypic abnormality", + "Neopterygii", + "Otomorpha", + "Teleostomi", + "Clupeocephala", + "Actinopteri", + "multicellular organism", + "whole organism", + "native cell", + "organism", + "root", + "pigment cell", + "Danioninae", + "absent biological_process", + "Vertebrata ", + "anatomical structure", + "quality", ], has_phenotype_count=2, ), score=5.412148503540145, similarity=TermSetPairwiseSimilarity( subject_termset={ - "ZP:0000945": TermInfo(id="ZP:0000945", label="pigment cell quality, abnormal (ZPO)"), "ZP:0100294": TermInfo(id="ZP:0100294", label="visual perception absent, abnormal (ZPO)"), + "ZP:0000945": TermInfo(id="ZP:0000945", label="pigment cell quality, abnormal (ZPO)"), }, object_termset={ - "HP:0002104": TermInfo(id="HP:0002104", label="Apnea (HPO)"), "HP:0012378": TermInfo(id="HP:0012378", label="Fatigue (HPO)"), + "HP:0002104": TermInfo(id="HP:0002104", label="Apnea (HPO)"), }, subject_best_matches={ "ZP:0000945": BestMatch( @@ -1146,44 +1430,67 @@ def phenotype_explorer_search(): uri="https://identifiers.org/zfin/ZDB-GENE-070117-1530", namespace="ZFIN", has_phenotype=["ZP:0001841", "ZP:0015039"], - has_phenotype_label=["visual behavior quality, abnormal", "visual behavior absent, abnormal"], + has_phenotype_label=[ + "visual behavior quality, abnormal (ZPO)", + "visual behavior absent, abnormal (ZPO)", + ], has_phenotype_closure=[ "ZP:0015039", - "UPHENO:0078496", "UPHENO:0034024", + "GO:0007610", + "BFO:0000003", + "PATO:0000001", + "GO:0009416", "UPHENO:0001005", + "GO:0009314", + "ZP:00000000", + "UPHENO:0078496", + "GO:0032501", + "UPHENO:0001002", + "GO:0007632", + "GO:0050896", + "BFO:0000020", + "ZP:0001841", + "UPHENO:0001001", + "BFO:0000015", + "ZP:0131284", + "GO:0008150", + "GO:0009628", + "ZP:0001669", "BFO:0000002", - "UPHENO:0034056", "BFO:0000001", - "PATO:0000001", - "UPHENO:0001001", - "BFO:0000020", - "UPHENO:0001003", + "UPHENO:0034056", "ZP:0005465", - "ZP:0001669", - "ZP:0131284", - "ZP:0001841", - "ZP:00000000", - "UPHENO:0001002", + "UPHENO:0001003", ], has_phenotype_closure_label=[ - "absent behavior", + "absent visual behavior", "absent biological_process", + "absent behavior", + "visual behavior quality, abnormal (ZPO)", + "quality", + "abnormal phenotype by ontology source", + "multicellular organismal process", "entity", - "absent visual behavior", - "visual behavior absent, abnormal", + "phenotype by ontology source", + "phenotype", + "response to stimulus", + "behavior quality, abnormal (ZPO)", + "visual behavior absent, abnormal (ZPO)", + "Zebrafish Phenotype (ZPO)", + "biological_process", + "response to light stimulus", + "response to radiation", + "behavior", + "visual behavior", "specifically dependent continuant", - "abnormal phenotype by ontology source", - "biological_process quality, abnormal", - "Zebrafish Phenotype", - "response to light stimulus quality, abnormal", - "quality", - "Phenotypic abnormality", + "response to light stimulus quality, abnormal (ZPO)", + "response to abiotic stimulus", + "biological_process quality, abnormal (ZPO)", "continuant", - "behavior quality, abnormal", - "phenotype", - "visual behavior quality, abnormal", - "phenotype by ontology source", + "process", + "occurrent", + "Phenotypic abnormality", ], has_phenotype_count=2, ), @@ -1284,8 +1591,8 @@ def phenotype_explorer_search(): "HP:0012378": BestMatch( match_source="HP:0012378", match_source_label="Fatigue (HPO)", - match_target="ZP:0015039", - match_target_label="visual behavior absent, abnormal (ZPO)", + match_target="ZP:0001841", + match_target_label="visual behavior quality, abnormal (ZPO)", score=1.6836208034928104, match_subsumer=None, match_subsumer_label=None, @@ -1293,7 +1600,7 @@ def phenotype_explorer_search(): subject_id="HP:0012378", subject_label=None, subject_source=None, - object_id="ZP:0015039", + object_id="ZP:0001841", object_label=None, object_source=None, ancestor_id="UPHENO:0001005", @@ -1302,10 +1609,10 @@ def phenotype_explorer_search(): object_information_content=None, subject_information_content=None, ancestor_information_content=1.6836208034928104, - jaccard_similarity=0.38095238095238093, + jaccard_similarity=0.47058823529411764, cosine_similarity=None, dice_similarity=None, - phenodigm_score=0.8008616320635836, + phenodigm_score=0.8901079388591847, ), ), }, @@ -1332,66 +1639,169 @@ def phenotype_explorer_search(): namespace="ZFIN", has_phenotype=["ZP:0021445", "ZP:0021445", "ZP:0021445"], has_phenotype_label=[ - "gill increased amount, abnormal", - "gill increased amount, abnormal", - "gill increased amount, abnormal", + "gill increased amount, abnormal (ZPO)", + "gill increased amount, abnormal (ZPO)", + "gill increased amount, abnormal (ZPO)", ], has_phenotype_closure=[ - "UPHENO:0001005", - "UPHENO:0011498", - "ZP:00000000", - "UPHENO:0001002", + "NCBITaxon:186627", + "NCBITaxon:33213", + "UBERON:0000467", + "NCBITaxon:1", "ZP:0100009", - "ZP:0100010", - "ZP:0018612", "UPHENO:0056072", - "UPHENO:0014240", - "ZP:0021445", - "UPHENO:0001001", + "NCBITaxon:33208", + "UBERON:0002535", + "UBERON:0011150", + "ZFA:0001439", + "ZFA:0001094", + "ZFA:0000496", + "ZP:0107301", + "BFO:0000020", + "UPHENO:0075696", + "NCBITaxon:2743709", + "UBERON:0000465", + "BFO:0000004", + "ZP:0100010", + "NCBITaxon:32519", "UPHENO:0004536", - "UPHENO:0002536", - "ZP:0107311", + "NCBITaxon:7742", + "PATO:0000001", "UPHENO:0006910", - "ZP:0107297", - "UPHENO:0075696", + "ZP:0107298", + "UBERON:0000062", + "ZP:00000000", + "NCBITaxon:7952", + "UBERON:0004119", "BFO:0000001", - "PATO:0000001", - "ZP:0107342", - "BFO:0000020", - "ZP:0107301", + "NCBITaxon:7711", + "NCBITaxon:2743711", + "ZP:0107311", + "ZP:0107297", + "UPHENO:0001003", + "OBI:0100026", + "BFO:0000040", + "UPHENO:0001005", + "NCBITaxon:7954", + "NCBITaxon:117571", + "NCBITaxon:33154", + "NCBITaxon:2759", + "NCBITaxon:33511", + "UBERON:0001004", "BFO:0000002", - "ZP:0107307", + "UPHENO:0011498", + "ZFA:0100000", + "ZP:0107342", + "NCBITaxon:186623", + "NCBITaxon:131567", + "NCBITaxon:32443", + "NCBITaxon:89593", + "NCBITaxon:6072", + "ZFA:0001512", + "NCBITaxon:7898", + "UBERON:0010000", + "NCBITaxon:1489341", + "ZP:0021445", + "ZFA:0001488", + "UBERON:0000061", + "NCBITaxon:117570", + "NCBITaxon:186625", + "ZFA:0000037", + "UBERON:0000480", + "UPHENO:0002536", + "NCBITaxon:186626", + "UBERON:0003103", + "NCBITaxon:7776", + "UPHENO:0014240", + "ZFA:0000354", + "ZP:0018612", + "UBERON:0000481", + "UBERON:0000468", + "UPHENO:0001002", + "NCBITaxon:30727", "ZP:0109053", - "ZP:0107298", - "UPHENO:0001003", + "NCBITaxon:41665", + "NCBITaxon:186634", + "ZFA:0000272", + "UBERON:0001062", + "ZP:0107307", + "UPHENO:0001001", ], has_phenotype_closure_label=[ + "Cypriniformes", + "respiratory system quality, abnormal (ZPO)", + "compound organ quality, abnormal (ZPO)", + "Cyprinoidei", + "Actinopterygii", + "multi-tissue structure quality, abnormal (ZPO)", + "Euteleostomi", + "organ", + "anatomical entity", + "zebrafish anatomical entity quality, abnormal (ZPO)", + "anatomical structure quality, abnormal (ZPO)", + "abnormal phenotype by ontology source", + "Cypriniphysae", + "Otophysi", + "respiratory system", + "cellular organisms", + "Danio", + "Eumetazoa", + "anatomical group quality, abnormal (ZPO)", + "multicellular organism", + "zebrafish anatomical entity", + "entity", "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "continuant", - "anatomical group quality, abnormal", + "Osteoglossocephalai", + "gill increased amount, abnormal (ZPO)", + "Danionidae", + "Opisthokonta", + "anatomical group", + "Bilateria", + "Eukaryota", + "Deuterostomia", + "Metazoa", + "gill", + "independent continuant", "abnormal respiratory system", "quality", + "abnormally increased number of anatomical entity in the independent continuant", + "anatomical system quality, abnormal (ZPO)", + "Ostariophysi", + "pharyngeal arch derived gill", + "multicellular anatomical structure", + "Gnathostomata ", + "endoderm-derived structure", + "Chordata", + "anatomical system", + "Danioninae", + "Vertebrata ", + "anatomical structure", + "continuant", + "whole organism quality, abnormal (ZPO)", "abnormal number of anatomical enitites of type anatomical entity", - "phenotype by ontology source", - "phenotype", - "compound organ quality, abnormal", - "abnormally increased number of anatomical entity", - "zebrafish anatomical entity quality, abnormal", - "gill increased amount, abnormal", - "Phenotypic abnormality", - "multi-tissue structure quality, abnormal", + "gill quality, abnormal (ZPO)", + "Zebrafish Phenotype (ZPO)", "specifically dependent continuant", - "abnormal phenotype by ontology source", - "anatomical structure increased amount, abnormal", - "entity", - "abnormally increased number of anatomical entity in the independent continuant", + "Phenotypic abnormality", + "Neopterygii", + "Otomorpha", + "Teleostei", + "material entity", + "material anatomical entity", + "abnormally increased number of anatomical entity", + "Clupeocephala", + "Actinopteri", + "whole organism", + "Teleostomi", + "compound organ", + "organism", + "root", + "Craniata ", + "multi-tissue structure", + "phenotype", + "phenotype by ontology source", "abnormal anatomical entity", - "anatomical system quality, abnormal", - "respiratory system quality, abnormal", - "anatomical structure quality, abnormal", - "whole organism quality, abnormal", - "Zebrafish Phenotype", - "gill quality, abnormal", + "anatomical structure increased amount, abnormal (ZPO)", ], has_phenotype_count=1, ), @@ -1401,8 +1811,8 @@ def phenotype_explorer_search(): "ZP:0021445": TermInfo(id="ZP:0021445", label="gill increased amount, abnormal (ZPO)") }, object_termset={ - "HP:0012378": TermInfo(id="HP:0012378", label="Fatigue (HPO)"), "HP:0002104": TermInfo(id="HP:0002104", label="Apnea (HPO)"), + "HP:0012378": TermInfo(id="HP:0012378", label="Fatigue (HPO)"), }, subject_best_matches={ "ZP:0021445": BestMatch( @@ -1517,47 +1927,126 @@ def phenotype_explorer_search(): uri="https://identifiers.org/zfin/ZDB-GENE-030131-8312", namespace="ZFIN", has_phenotype=["ZP:0003210"], - has_phenotype_label=["whole organism decreased mobility, abnormal"], + has_phenotype_label=["whole organism decreased mobility, abnormal (ZPO)"], has_phenotype_closure=[ - "UPHENO:0001002", + "NCBITaxon:186627", + "NCBITaxon:33213", + "UBERON:0010000", + "NCBITaxon:1", + "NCBITaxon:33208", + "ZFA:0001094", + "PATO:0000001", + "ZP:0107301", + "BFO:0000020", + "UBERON:0000465", + "NCBITaxon:32519", + "NCBITaxon:7742", "ZP:00000000", - "UPHENO:0076671", + "UBERON:0000061", + "ZP:0013613", "UPHENO:0001001", - "UPHENO:0076943", - "UPHENO:0002536", - "ZP:0004725", + "NCBITaxon:186625", + "ZP:0003210", + "NCBITaxon:7952", "BFO:0000001", - "PATO:0000001", - "UPHENO:0075696", - "ZP:0107311", - "BFO:0000020", - "ZP:0107301", - "BFO:0000002", - "UPHENO:0001005", + "NCBITaxon:7711", "UPHENO:0001003", - "ZP:0003210", - "ZP:0013613", + "OBI:0100026", + "BFO:0000040", + "UPHENO:0001005", + "NCBITaxon:7898", + "NCBITaxon:2743709", + "NCBITaxon:7954", + "NCBITaxon:117571", + "NCBITaxon:33154", + "NCBITaxon:117570", + "ZP:0004725", + "ZFA:0000037", + "NCBITaxon:33511", + "UPHENO:0076943", + "NCBITaxon:41665", + "ZFA:0100000", + "NCBITaxon:186623", + "NCBITaxon:131567", + "ZP:0107311", + "NCBITaxon:2743711", "ZP:0100009", + "UPHENO:0076671", + "NCBITaxon:1489341", + "BFO:0000002", + "BFO:0000004", + "NCBITaxon:2759", + "NCBITaxon:32443", + "NCBITaxon:89593", + "NCBITaxon:6072", + "UBERON:0000468", + "NCBITaxon:186634", + "NCBITaxon:30727", + "UPHENO:0001002", + "NCBITaxon:186626", + "NCBITaxon:7776", + "UPHENO:0002536", + "UPHENO:0075696", + "UBERON:0001062", ], has_phenotype_closure_label=[ + "Cypriniformes", + "whole organism decreased mobility, abnormal (ZPO)", + "Euteleostomi", + "zebrafish anatomical entity quality, abnormal (ZPO)", + "anatomical structure quality, abnormal (ZPO)", + "abnormal phenotype by ontology source", + "Cypriniphysae", + "whole organism mobility, abnormal (ZPO)", + "Otophysi", + "anatomical entity", + "cellular organisms", + "material anatomical entity", + "material entity", + "entity", + "Eumetazoa", + "zebrafish anatomical entity", + "Osteoglossocephalai", + "whole organism quality, abnormal (ZPO)", + "Cyprinoidei", + "Actinopterygii", + "abnormal anatomical entity mobility", + "Danionidae", + "Danio", + "Opisthokonta", + "Bilateria", + "whole organism physical object quality, abnormal (ZPO)", + "Eukaryota", + "Deuterostomia", + "Metazoa", + "Ostariophysi", + "Actinopteri", + "Gnathostomata ", + "multicellular anatomical structure", + "Danioninae", + "Vertebrata ", + "anatomical structure", + "Zebrafish Phenotype (ZPO)", "specifically dependent continuant", + "Chordata", "continuant", - "quality", - "whole organism mobility, abnormal", - "abnormal anatomical entity", - "anatomical structure quality, abnormal", "Phenotypic abnormality", - "whole organism quality, abnormal", - "abnormal anatomical entity mobility", - "Zebrafish Phenotype", - "entity", - "abnormal phenotype by ontology source", + "Neopterygii", + "Otomorpha", + "Craniata ", + "Teleostei", + "Teleostomi", + "Clupeocephala", "decreased anatomical entity mobility", - "zebrafish anatomical entity quality, abnormal", - "whole organism physical object quality, abnormal", - "whole organism decreased mobility, abnormal", + "quality", + "organism", + "root", + "independent continuant", + "multicellular organism", + "whole organism", "phenotype", "phenotype by ontology source", + "abnormal anatomical entity", ], has_phenotype_count=1, ), @@ -1567,8 +2056,8 @@ def phenotype_explorer_search(): "ZP:0003210": TermInfo(id="ZP:0003210", label="whole organism decreased mobility, abnormal (ZPO)") }, object_termset={ - "HP:0012378": TermInfo(id="HP:0012378", label="Fatigue (HPO)"), "HP:0002104": TermInfo(id="HP:0002104", label="Apnea (HPO)"), + "HP:0012378": TermInfo(id="HP:0012378", label="Fatigue (HPO)"), }, subject_best_matches={ "ZP:0003210": BestMatch( @@ -1684,46 +2173,127 @@ def phenotype_explorer_search(): uri="https://identifiers.org/zfin/ZDB-GENE-040718-335", namespace="ZFIN", has_phenotype=["ZP:0001432"], - has_phenotype_label=["whole organism morphology, abnormal"], + has_phenotype_label=["whole organism morphology, abnormal (ZPO)"], has_phenotype_closure=[ - "ZP:0013613", + "NCBITaxon:33213", + "NCBITaxon:1", "ZP:0100009", + "NCBITaxon:33208", + "ZFA:0001094", + "UPHENO:0081581", + "ZP:0107301", + "UPHENO:0075696", + "UBERON:0000465", + "UPHENO:0015280", + "NCBITaxon:32519", + "NCBITaxon:7742", + "PATO:0000001", + "ZP:00000000", + "BFO:0000004", + "NCBITaxon:2759", + "UBERON:0000061", + "ZP:0013613", "UPHENO:0001001", - "UPHENO:0020584", - "BFO:0000002", + "NCBITaxon:186625", "UPHENO:0002536", + "NCBITaxon:6072", + "NCBITaxon:89593", + "NCBITaxon:7952", + "BFO:0000001", + "NCBITaxon:7711", + "UPHENO:0001003", + "OBI:0100026", + "BFO:0000040", "UPHENO:0001005", - "ZP:0001432", + "NCBITaxon:2743709", + "NCBITaxon:7954", + "NCBITaxon:117571", + "NCBITaxon:33154", + "NCBITaxon:117570", + "ZFA:0000037", + "NCBITaxon:33511", + "NCBITaxon:41665", + "ZFA:0100000", + "NCBITaxon:186623", + "NCBITaxon:131567", + "UPHENO:0001002", + "NCBITaxon:30727", + "NCBITaxon:2743711", "ZP:0107311", + "UBERON:0001062", "BFO:0000020", - "ZP:0107301", "UPHENO:0076692", - "ZP:00000000", - "UPHENO:0001002", - "UPHENO:0001003", - "BFO:0000001", - "UPHENO:0015280", - "PATO:0000001", - "UPHENO:0075696", + "UBERON:0010000", + "NCBITaxon:7898", + "NCBITaxon:186627", + "ZP:0001432", + "UPHENO:0020584", + "NCBITaxon:32443", + "BFO:0000002", + "NCBITaxon:1489341", + "NCBITaxon:186634", + "NCBITaxon:186626", + "NCBITaxon:7776", + "UBERON:0000468", ], has_phenotype_closure_label=[ - "specifically dependent continuant", + "Cypriniformes", + "Cyprinoidei", + "Actinopterygii", + "Euteleostomi", + "zebrafish anatomical entity quality, abnormal (ZPO)", + "whole organism morphology, abnormal (ZPO)", + "abnormal multicellular organism morphology", + "Cypriniphysae", + "anatomical entity", + "cellular organisms", + "material anatomical entity", + "material entity", + "entity", + "Eumetazoa", + "zebrafish anatomical entity", + "Osteoglossocephalai", + "whole organism quality, abnormal (ZPO)", + "Danionidae", + "whole organism physical object quality, abnormal (ZPO)", + "Eukaryota", + "Deuterostomia", + "Metazoa", + "independent continuant", + "Ostariophysi", + "Danioninae", + "Vertebrata ", + "anatomical structure", + "abnormal anatomical entity morphology", + "Chordata", "continuant", - "abnormal phenotype by ontology source", + "Zebrafish Phenotype (ZPO)", + "specifically dependent continuant", "abnormal anatomical entity", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical structure quality, abnormal", - "quality", - "Phenotypic abnormality", - "whole organism quality, abnormal", - "Zebrafish Phenotype", - "abnormal anatomical entity morphology", - "entity", - "whole organism morphology, abnormal", - "zebrafish anatomical entity quality, abnormal", - "whole organism physical object quality, abnormal", - "phenotype", "phenotype by ontology source", + "phenotype", + "Craniata ", + "Teleostei", + "multicellular anatomical structure", + "Gnathostomata ", + "Phenotypic abnormality", + "Neopterygii", + "Otomorpha", + "Teleostomi", + "Clupeocephala", + "Actinopteri", + "abnormal phenotype by ontology source", + "quality", + "organism", + "root", + "Otophysi", + "anatomical structure quality, abnormal (ZPO)", + "abnormal anatomical entity morphology in the independent continuant", + "multicellular organism", + "whole organism", + "Danio", + "Opisthokonta", + "Bilateria", ], has_phenotype_count=1, ), diff --git a/backend/tests/fixtures/search.py b/backend/tests/fixtures/search.py index eecb0dfd9..02becb83e 100644 --- a/backend/tests/fixtures/search.py +++ b/backend/tests/fixtures/search.py @@ -11,7 +11,7 @@ def search(): { "id": "HP:0001994", "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", + "name": "Renal Fanconi syndrome (HPO)", "full_name": None, "deprecated": 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.", @@ -20,7 +20,7 @@ def search(): "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], + "synonym": ["'de toni-fanconi-debre' syndrome", "Renal tubular fanconi syndrome"], "uri": None, "namespace": "HP", "has_phenotype": [], @@ -67,7 +67,6 @@ def search(): "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0005344", "HP:0002023", "HP:0001824", @@ -81,18 +80,19 @@ def search(): "HP:0001882", "HP:0002863", "HP:0002119", - "HP:0001510", + "HP:0001562", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006824", "HP:0006265", @@ -164,2089 +164,3100 @@ def search(): "HP:0001000", ], "has_phenotype_label": [ - "Upslanted palpebral fissure", - "Absent testis", - "Abnormal pinna morphology", - "Tracheoesophageal fistula", - "Astigmatism", - "Hydrocephalus", - "Intellectual disability", - "Abnormal preputium morphology", - "Arteriovenous malformation", - "Abnormal morphology of ulna", - "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", - "Abnormal carotid artery morphology", - "Anal atresia", - "Weight loss", - "Cataract", - "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", - "Microcephaly", - "Leukopenia", - "Myelodysplasia", - "Ventriculomegaly", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the hypothalamus-pituitary axis", - "Hypertelorism", - "Azoospermia", - "Oligohydramnios", - "Duodenal stenosis", - "Clubbing of toes", - "Abnormal localization of kidney", - "Decreased fertility in males", - "Aplasia/Hypoplasia of the uvula", - "Renal hypoplasia/aplasia", - "Multiple cafe-au-lait spots", - "Cranial nerve paralysis", - "Aplasia/Hypoplasia of fingers", - "Finger syndactyly", - "Reduced bone mineral density", - "Clinodactyly of the 5th finger", - "Hypoplasia of the ulna", - "Hip dislocation", - "Abnormality of femur morphology", - "Spina bifida", - "Aganglionic megacolon", - "Meckel diverticulum", - "Frontal bossing", - "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", - "Umbilical hernia", - "Intrauterine growth retardation", - "Hyperreflexia", - "Triphalangeal thumb", - "Bicornuate uterus", - "Nystagmus", - "Microphthalmia", - "Proptosis", - "Visual impairment", - "Abnormality of vision", - "Abnormal eyelid morphology", - "Strabismus", - "Abnormality of the eye", - "Hearing impairment", - "Hearing abnormality", - "Micrognathia", - "Sloping forehead", - "Facial asymmetry", - "Epicanthus", - "Dolichocephaly", - "High palate", - "Cleft palate", - "Hypogonadism", - "Abnormality of the uterus", - "Renal insufficiency", - "Hydroureter", - "Abnormal testis morphology", - "Cryptorchidism", - "Recurrent urinary tract infections", - "Short palpebral fissure", - "Abnormal renal morphology", - "Neoplasm", - "Abnormal cardiac septum morphology", - "Global developmental delay", - "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", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Abnormal thumb morphology", - "Hypopigmented skin patches", - "Abnormality of skin pigmentation", + "Upslanted palpebral fissure (HPO)", + "Absent testis (HPO)", + "Abnormal pinna morphology (HPO)", + "Tracheoesophageal fistula (HPO)", + "Astigmatism (HPO)", + "Hydrocephalus (HPO)", + "Intellectual disability (HPO)", + "Abnormal preputium morphology (HPO)", + "Arteriovenous malformation (HPO)", + "Abnormal morphology of ulna (HPO)", + "Abnormal nervous system morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Anal atresia (HPO)", + "Weight loss (HPO)", + "Cataract (HPO)", + "Ptosis (HPO)", + "Choanal atresia (HPO)", + "Hypospadias (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Scoliosis (HPO)", + "Microcephaly (HPO)", + "Leukopenia (HPO)", + "Myelodysplasia (HPO)", + "Ventriculomegaly (HPO)", + "Oligohydramnios (HPO)", + "Abnormality of the liver (HPO)", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Hypertelorism (HPO)", + "Azoospermia (HPO)", + "Growth delay (HPO)", + "Duodenal stenosis (HPO)", + "Clubbing of toes (HPO)", + "Abnormal localization of kidney (HPO)", + "Decreased fertility in males (HPO)", + "Aplasia/Hypoplasia of the uvula (HPO)", + "Renal hypoplasia/aplasia (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "Multiple cafe-au-lait spots (HPO)", + "Cranial nerve paralysis (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Finger syndactyly (HPO)", + "Reduced bone mineral density (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "Hypoplasia of the ulna (HPO)", + "Hip dislocation (HPO)", + "Abnormality of femur morphology (HPO)", + "Spina bifida (HPO)", + "Aganglionic megacolon (HPO)", + "Meckel diverticulum (HPO)", + "Frontal bossing (HPO)", + "Toe syndactyly (HPO)", + "Pes planus (HPO)", + "Abnormal foot morphology (HPO)", + "Abnormal aortic morphology (HPO)", + "Abnormal aortic valve morphology (HPO)", + "Patent ductus arteriosus (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "Tetralogy of Fallot (HPO)", + "Atrial septal defect (HPO)", + "Umbilical hernia (HPO)", + "Intrauterine growth retardation (HPO)", + "Hyperreflexia (HPO)", + "Triphalangeal thumb (HPO)", + "Bicornuate uterus (HPO)", + "Nystagmus (HPO)", + "Microphthalmia (HPO)", + "Proptosis (HPO)", + "Visual impairment (HPO)", + "Abnormality of vision (HPO)", + "Abnormal eyelid morphology (HPO)", + "Strabismus (HPO)", + "Abnormality of the eye (HPO)", + "Hearing impairment (HPO)", + "Hearing abnormality (HPO)", + "Micrognathia (HPO)", + "Sloping forehead (HPO)", + "Facial asymmetry (HPO)", + "Epicanthus (HPO)", + "Dolichocephaly (HPO)", + "High palate (HPO)", + "Cleft palate (HPO)", + "Hypogonadism (HPO)", + "Abnormality of the uterus (HPO)", + "Renal insufficiency (HPO)", + "Hydroureter (HPO)", + "Abnormal testis morphology (HPO)", + "Cryptorchidism (HPO)", + "Recurrent urinary tract infections (HPO)", + "Short palpebral fissure (HPO)", + "Abnormal renal morphology (HPO)", + "Neoplasm (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "Global developmental delay (HPO)", + "Abnormality of the urinary system (HPO)", + "Irregular hyperpigmentation (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "Short stature (HPO)", + 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"UBERON:0007832", + "HP:0010469", + "UBERON:0001766", + "UPHENO:0021746", + "UPHENO:0084448", + "UBERON:0002365", + "UPHENO:0050622", + "HP:0030311", + "HP:0012372", + "BFO:0000020", + "HP:0002650", + "UBERON:0004054", + "UBERON:0003697", + "HP:0030962", + "UBERON:0004905", + "UBERON:0000010", + "UBERON:0011676", + "GO:0050877", + "UPHENO:0004523", + "HP:0000035", + "UBERON:0010000", + "UPHENO:0041525", + "HP:0033353", + "HP:0032039", + "UBERON:0001460", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0001032", + "UBERON:0003498", + "HP:0001643", + "UBERON:0004086", + "UPHENO:0001003", + "UBERON:0000463", + "UBERON:5102389", + "UBERON:0010409", + "UBERON:0012358", + "UBERON:0001043", + "HP:0010978", + "UBERON:0004089", + "UBERON:0004111", + "UBERON:0004710", + "HP:0001924", + "UBERON:0003620", + "UBERON:0034921", + "UPHENO:0076692", + "UPHENO:0054957", + "UPHENO:0077885", + "UPHENO:0001005", + "HP:0004325", + "UPHENO:0042834", + "HP:0000481", + "UBERON:0016529", + "HP:0100691", + "UBERON:0010314", + "HP:0030791", + "CL:0000003", + "BFO:0000003", + "UBERON:0007811", + "UPHENO:0050620", + "UBERON:0004122", + "UPHENO:0002844", + "GO:0042592", + "UBERON:0001711", + "UBERON:0002387", + "HP:0012331", + "HP:0008050", + "UPHENO:0063599", + "UPHENO:0002536", + "HP:0000813", + "UPHENO:0080382", + "UBERON:0002417", + "HP:0002270", + "UPHENO:0076730", + "UBERON:0000047", + "UPHENO:0049985", + "UBERON:0015203", + "UPHENO:0041821", + "UPHENO:0002595", + "HP:0000153", + "UPHENO:0002433", + "UBERON:0004456", + "BFO:0000040", + "HP:0012639", + "HP:0012443", + "UBERON:0001530", + "HP:0000025", + "UBERON:0000467", + "UBERON:0000064", + "UBERON:0006800", + "CL:0002242", + "UBERON:0000160", + "UPHENO:0002719", + "UPHENO:0020998", + "UPHENO:0021447", + "UPHENO:0079828", + "UBERON:0035639", + "UBERON:5001463", + "UBERON:0000019", + "UPHENO:0015280", + "HP:0040069", + "UBERON:0005401", + "UBERON:0000179", + "HP:0030669", + "UBERON:0001449", + "HP:0001667", "HP:0004349", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0087203", - "UPHENO:0082834", - "HP:0004209", - "UPHENO:0084511", - "UPHENO:0086144", - "HP:0004097", - "HP:0009179", + "HP:0000508", + "HP:0000377", + "UPHENO:0068971", + "HP:0000234", + "UPHENO:0041146", + "HP:0000505", + "GO:0007276", + "UBERON:0000465", + "HP:0000582", + "UBERON:0013765", + "UPHENO:0049940", + "UBERON:0010230", ], "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation", - "Hypopigmented skin patches", - "decreased pigmentation in skin of body", - "Hypopigmentation of the skin", "decreased pigmentation in multicellular organism", - "abnormal blood cell morphology", - "abnormal platelet morphology", - "Thrombocytopenia", - "Abnormal platelet count", - "abnormal blood cell", + "decreased biological_process in skin of body", + "decreased pigmentation in skin of body", + "Thrombocytopenia (HPO)", + "anucleate cell", + "serotonin secreting cell", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "Abnormality of body height (HPO)", + "decreased size of the multicellular organism", "decreased height of the anatomical entity", - "Abnormality of body height", - "abnormal erythrocyte morphology", - "Abnormal myeloid cell morphology", - "abnormal hematopoietic cell morphology", - "Abnormal cell morphology", - "Sideroblastic anemia", - "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", - "decreased length of palpebral fissure", - "Recurrent urinary tract infections", - "Unusual infection", - "Abnormality of immune system physiology", - "abnormal ureter", - "Abnormal ureter morphology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", + "abnormality of multicellular organism height", + "Hypopigmentation of the skin (HPO)", + "Anemia (HPO)", + "oxygen accumulating cell", + "Abnormal cell morphology (HPO)", + "myeloid cell", + "blood cell", + "homeostatic process", + "cellular process", + "Abnormal erythroid lineage cell morphology (HPO)", + "erythrocyte differentiation", + "myeloid cell differentiation", + "cell differentiation", + "myeloid cell homeostasis", + "cellular developmental process", + "Abnormality of the radius (HPO)", + "Abnormal cellular physiology (HPO)", + "abnormal radius bone", + "radius bone", + "Global developmental delay (HPO)", + "Short palpebral fissure (HPO)", + "abnormal size of palpebral fissure", + "Abnormality of immune system physiology (HPO)", + "abnormality of immune system physiology", + "abnormally localised anatomical entity", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "renal pelvis/ureter", + "Abnormal ureter morphology (HPO)", + "abnormal ureter morphology", + "ureter", "abnormality of renal system physiology", - "Puberty and gonadal disorders", - "abnormally decreased functionality of the gonad", + "hard palate", + "abnormal incomplete closing of the secondary palate", + "Abnormal hard palate morphology (HPO)", "Orofacial cleft", - "High palate", - "increased height of anatomical entity in independent continuant", - "abnormality of anatomical entity height", - "Dolichocephaly", - "increased size of the head", - "abnormal size of head", - "abnormal skin of face morphology", + "increased height of the secondary palate", "abnormal skin of head morphology", + "increased length of the epicanthal fold", + "skin of head", + "epicanthal fold", + "abnormal skin of face morphology", + "upper eyelid", + "head or neck skin", + "Facial asymmetry (HPO)", + "abnormal face morphology", + "abnormal shape of forehead", + "sloped forehead", "abnormal forehead morphology", - "abnormally localised anatomical entity", - "Micrognathia", - "aplasia or hypoplasia of mandible", - "decreased size of the mandible", + "jaw skeleton", "aplasia or hypoplasia of skull", - "facial bone hypoplasia", - "Aplasia/Hypoplasia involving bones of the skull", "mandible hypoplasia", "anatomical entity hypoplasia in face", - "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "Facial asymmetry", - "abnormal sensory perception of sound", + "bone of lower jaw", + "Micrognathia (HPO)", + "Hypoplastic facial bones (HPO)", + "dentary", + "facial bone hypoplasia", + "decreased biological_process in independent continuant", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "Abnormal mandible morphology (HPO)", + "aplasia or hypoplasia of mandible", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal asymmetry of anatomical entity", "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", + "Hearing impairment (HPO)", + "Abnormality of vision (HPO)", + "visual perception", + "sensory perception", + "decreased qualitatively visual perception", + "Proptosis (HPO)", + "Microphthalmia (HPO)", "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "Cryptorchidism", - "Nystagmus", - "abnormality of ear physiology", - "Abnormal vestibular function", - "abnormal vestibulo-ocular reflex", + "Abnormality of globe size (HPO)", "abnormal internal ear", - "abnormal female reproductive system", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "Abnormal involuntary eye movements (HPO)", + "Abnormal vestibulo-ocular reflex (HPO)", + "Vestibular dysfunction (HPO)", + "Strabismus (HPO)", + "Functional abnormality of the inner ear (HPO)", + "internal ear", + "Abnormality of eye movement (HPO)", + "Abnormality of the inner ear (HPO)", + "abnormality of ear physiology", + "abnormality of internal ear physiology", + "abnormal eye movement", + "female reproductive system", + "female organism", "shape uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "Abnormality of the uterus", + "internal female genitalia", + "sensory perception of sound", + "female reproductive organ", + "uterus", + "skin of eyelid", + "bicornuate anatomical entity", + "Abnormal morphology of female internal genitalia (HPO)", + "bicornuate uterus", + "decreased qualitatively sensory perception of sound", + "subdivision of oviduct", "abnormal uterus", - "abnormal phalanx of manus morphology", - "Abnormal finger phalanx morphology", - "Abnormality of thumb phalanx", - "Triphalangeal thumb", - "increased reflex", - "Hyperreflexia", + "Abnormal uterus morphology (HPO)", + "manual digit 1 plus metapodial segment", + "skeleton of manual acropodium", + "abnormally decreased functionality of the gonad", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "Abnormal finger phalanx morphology (HPO)", + "manual digit 1 phalanx endochondral element", + "phalanx of manus", + "Abnormal thumb morphology (HPO)", + "body part movement", + "voluntary movement behavior", + "decreased qualitatively pigmentation in independent continuant", "abnormal behavior", + "Abnormality of movement (HPO)", + "Behavioral abnormality (HPO)", + "Hyperreflexia (HPO)", + "neuromuscular process", + "Visual impairment (HPO)", + "voluntary musculoskeletal movement", + "behavior process", + "reflex", + "abnormal response to external stimulus", "abnormal musculoskeletal movement", - "increased qualitatively response to stimulus", + "multicellular organismal movement", + "abnormal voluntary movement behavior", "decreased embryo development", - "abnormal embryo development", - "Intrauterine growth retardation", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal umbilicus morphology", - "Abnormality of connective tissue", - "shape forehead", - "herniated abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Intrauterine growth retardation (HPO)", + "connective tissue", + "abdominal viscera", + "biogenic amine secreting cell", + "changed embryo development rate", + "abdominal wall", + "abnormal incomplete closing of the abdominal wall", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal cardiac atrium morphology (HPO)", + "Abnormality of the ureter (HPO)", + "interatrial septum", + "Atrial septal defect (HPO)", + "Abnormal atrial septum morphology (HPO)", + "abnormal cardiac atrium morphology", "abnormal interatrial septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "Abnormal cardiac septum morphology", + "Abnormal heart valve physiology (HPO)", + "interventricular septum", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", + "hypertrophic heart right ventricle", + "Abnormal cardiac ventricle morphology (HPO)", + "Abnormality of the uterus (HPO)", + "Abnormal pulmonary valve physiology (HPO)", + "abnormal incomplete closing of the interventricular septum", + "Overriding aorta (HPO)", + "abnormal size of heart right ventricle", "abnormally increased volume of anatomical entity", - "Tetralogy of Fallot", - "abnormal heart right ventricle morphology", - "Ventricular hypertrophy", - "Right ventricular hypertrophy", + "Tetralogy of Fallot (HPO)", + "abnormal pulmonary valve morphology", + "abnormal cardiac ventricle morphology in the heart", + "cardiac septum", + "Pulmonic stenosis (HPO)", + "right cardiac chamber", + "decreased qualitatively biological_process in independent continuant", + "abnormal behavior process", + "constricted pulmonary valve", + "abnormal cardiac ventricle morphology in the independent continuant", "abnormal cardiac septum morphology", - "Overriding aorta", - "abnormal interventricular septum morphology", - "abnormally decreased functionality of the anatomical entity", + "anatomical entity dysfunction in independent continuant", + "myocardium", + "Abnormal myocardium morphology (HPO)", "abnormally decreased functionality of the myocardium", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", - "abnormal aortic valve morphology", - "abnormal anatomical entity morphology in the heart", - "abnormal outflow part of left ventricle morphology", - "abnormal eye movement", + "abnormally decreased functionality of the anatomical entity", + "Hypertrophic cardiomyopathy (HPO)", + "abnormal coronary vessel morphology", + "conceptus", + "abnormal systemic artery morphology", + "vasculature of organ", + "vasculature of trunk", + "heart blood vessel", + "abnormal artery morphology", + "thoracic segment blood vessel", "abnormal artery morphology in the independent continuant", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "Abnormal aortic morphology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "flat longitudinal arch of pes", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", - "Abnormal calvaria morphology", - "abnormal neurocranium morphology", - "Abnormal cerebral cortex morphology", - "abnormally protruding anatomical entity", - "Abnormal shape of the frontal region", - "flat anatomical entity", - "abnormal cerebral cortex morphology", + "Congenital malformation of the great arteries (HPO)", + "embryonic cardiovascular system", + "abnormal ductus arteriosus morphology", + "Unusual infection (HPO)", + "outflow tract", + "abnormal embryo development", + "abnormal abdominal wall", + "abnormal cardial valve morphology in the independent continuant", + "lower jaw region", + "abnormal uterus morphology", + "valve", + "aplasia or hypoplasia of radius bone", + "Abnormal aortic valve morphology (HPO)", + "semi-lunar valve", + "cardiac ventricle", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "outflow tract of ventricle", + "heart plus pericardium", + "outflow part of left ventricle", + "aortic system", + "abnormal aorta morphology", + "Abnormal aortic morphology (HPO)", + "thoracic cavity blood vessel", + "great vessel of heart", + "flattened anatomical entity", + "flat anatomical entity in independent continuant", + "Toe syndactyly (HPO)", + "abnormal facial skeleton morphology", + "Aplasia/Hypoplasia of the radius (HPO)", + "Frontal bossing (HPO)", + "central nervous system gray matter layer", + "dermal bone", + "pallium", + "facial skeleton", + "central nervous system cell part cluster", "abnormal shape of frontal cortex", + "frontal cortex", + "cortex of cerebral lobe", + "neurocranium", + "secretory cell", + "bone of craniocervical region", + "heart layer", + "intramembranous bone", + "Ventricular hypertrophy (HPO)", + "membrane bone", + "abnormal forehead", "abnormal frontal cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", + "cerebral hemisphere gray matter", + "forehead", + "abnormal tetrapod frontal bone morphology", + "Abnormal facial skeleton morphology (HPO)", + "abnormal cerebral cortex morphology", + "primary subdivision of cranial skeletal system", + "abnormal spatial pattern of anatomical entity", + "vault of skull", + "dermal skeleton", + "dermatocranium", + "cerebral hemisphere", + "Abnormality of calvarial morphology (HPO)", "abnormal vault of skull", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal size of heart right ventricle", - "Meckel diverticulum", + "abnormal ileum morphology", + "Abnormal ileum morphology (HPO)", + "ganglion of peripheral nervous system", + "decreased pigmentation in independent continuant", + "neocortex", + "parasympathetic ganglion", + "Bicornuate uterus (HPO)", + "autonomic nervous system", + "abnormal ganglion of peripheral nervous system", + "Abnormal platelet morphology (HPO)", + "Abnormality of enteric ganglion morphology (HPO)", "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal ganglion morphology", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Hernia", - "Vertebral arch anomaly", - "decreased biological_process in skin of body", + "platelet", + "enteric ganglion", + "Abnormal autonomic nervous system morphology (HPO)", + "Aganglionic megacolon (HPO)", + "decreased length of palpebral fissure", + "abnormal parasympathetic ganglion morphology", "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "abnormal vertebral column morphology", - "Spinal dysraphism", - "Abnormal vertebral morphology", - "Abnormal spinal cord morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "abnormal bony vertebral centrum morphology", - "abnormal opening of the anatomical entity", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "abnormal neural tube morphology", - "Neural tube defect", - "abnormal shape of forehead", + "abnormal ganglion", + "involuntary movement behavior", + "abnormal enteric nervous system morphology", + "dorsal region element", + "neural tube", + "presumptive structure", + "reflexive behavior", "abnormal tube formation", + "Abnormality of the spinal cord (HPO)", + "manual digit 1", + "neural tube closure", + "chordate embryonic development", + "spinal cord", + "Spinal dysraphism (HPO)", + "abnormal heart morphology", + "tube development", + "embryonic morphogenesis", + "tube morphogenesis", + "bony vertebral centrum", + "irregular bone", + "Increased head circumference (HPO)", + "future central nervous system", + "vertebral centrum element", + "arch of centrum of vertebra", + "vertebral element", + "abnormal neural tube morphology", + "Vertebral arch anomaly (HPO)", + "cerebral cortex", + "gray matter of forebrain", "abnormal incomplete closing of the arch of centrum of vertebra", - "abnormal size of palpebral fissure", + "neural tube formation", + "primary neural tube formation", + "abnormal development of anatomical entity", + "Neural tube defect (HPO)", + "embryonic structure", + "developing anatomical structure", + "decreased size of the mandible", + "Patent ductus arteriosus (HPO)", + "Abnormality of enteric nervous system morphology (HPO)", + "Abnormal form of the vertebral bodies (HPO)", + "abnormal vertebral column morphology", + "epithelium development", + "morphogenesis of an epithelium", + "epithelial tube morphogenesis", + "embryo development ending in birth or egg hatching", + "shape longitudinal arch of pes", + "embryo development", + "dorsum", + "Abnormal vertebral morphology (HPO)", + "abnormal vertebra morphology", + "anatomical structure development", + "anatomical structure morphogenesis", + "Spina bifida (HPO)", + "bone of hip region", + "Abnormal morphology of the great vessels (HPO)", + "hindlimb stylopod", "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormality of femur morphology", + "upper leg bone", + "abnormal voluntary musculoskeletal movement", + "Abnormality of femur morphology (HPO)", + "femur endochondral element", + "leg bone", "abnormal femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal synovial joint morphology", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "anatomical entity dislocation", - "Joint dislocation", - "Abnormal joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Lower extremity joint dislocation", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Aplasia/hypoplasia involving forearm bones", - "Sloping forehead", + "sensory perception of mechanical stimulus", + "hip", + "neurocranium bone", + "pelvic girdle bone/zone", + "vestibulo-ocular reflex", + "Abnormal hip joint morphology (HPO)", + "Abnormal joint morphology (HPO)", + "articulation", + "abnormal phalanx morphology", + "tetrapod frontal bone", + "limb joint", + "pelvic region element", + "excretory tube", + "hip joint", + "abnormal synovial joint", + "girdle bone/zone", + "abnormal hindlimb joint", + "Abdominal wall defect (HPO)", + "Right ventricular hypertrophy (HPO)", + "zone of bone organ", + "skeletal joint", + "girdle skeleton", + "Abnormality of pelvic girdle bone morphology (HPO)", + "Lower extremity joint dislocation (HPO)", + "Abnormal hip bone morphology (HPO)", + "appendage girdle region", + "neural tube development", + "articular system", "decreased size of the ulna", - "Forearm undergrowth", - "forelimb zeugopod bone hypoplasia", - "decreased size of the anatomical entity in the pectoral complex", + "anatomical entity hypoplasia", + "ulna hypoplasia", "decreased length of anatomical entity in independent continuant", - "Hypoplasia of the ulna", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Aplasia/Hypoplasia affecting the uvea", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", - "abnormal iris morphology", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal penis", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal limb morphology", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal voluntary movement behavior", - "Abnormal forearm bone morphology", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", - "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormal skeletal morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "Ventriculomegaly", - "sloped anatomical entity", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "Abnormality of cardiovascular system morphology", + "decreased length of forelimb zeugopod bone", + "aplasia or hypoplasia of ulna", + "Aplasia/Hypoplasia of the ulna (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "Forearm undergrowth (HPO)", + "decreased size of the anatomical entity", + "abnormal myocardium morphology", + "Short long bone (HPO)", + "decreased length of long bone", + "bone element hypoplasia in independent continuant", + "Short forearm (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "musculoskeletal movement", + "digit 1 or 5", + "aorta", + "manual digit 5", + "manual digit 1 or 5", + "Abnormality of metabolism/homeostasis (HPO)", + "tube closure", + "digit 5 plus metapodial segment", + "Abnormal 5th finger morphology (HPO)", + "abnormal manual digit 5 morphology", + "Decreased bone element mass density", + "cardiac atrium", + "Reduced bone mineral density (HPO)", + "Abnormality of the abdominal wall (HPO)", + "ossification", + "Abnormality of bone mineral density (HPO)", + "Decreased anatomical entity mass density", + "Finger syndactyly (HPO)", + "abnormal anatomical entity morphology in the manus", + "abnormally fused digit and anatomical entity", + "abnormally fused manual digit and manual digit", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Aplasia/hypoplasia of the extremities (HPO)", + "Abnormality of the hand (HPO)", + "abnormal manus", + "tissue morphogenesis", + "abnormal manus morphology", + "manus", + "segment of manus", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Abnormality of finger (HPO)", + "peripheral nervous system", + "paralysed cranial nerve", + "abnormal biological_process", + "Cranial nerve paralysis (HPO)", + "Abnormal myeloid cell morphology (HPO)", + "abnormal vasculature", + "nerve of head region", + "Abnormal bone structure (HPO)", + "abnormality of internal male genitalia physiology", + "abnormal brain ventricle/choroid plexus morphology", + "multi cell part structure", "abnormal respiratory system", - "abnormal bone of pectoral complex morphology", - "abnormal embryo morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal vascular system morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", - "Neurodevelopmental abnormality", - "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", - "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal ileum morphology", + "oral cavity", + "Abnormality of the peripheral nervous system (HPO)", + "paralysed anatomical entity", + "lobe of cerebral hemisphere", + "Abnormal cranial nerve physiology (HPO)", + "cranial neuron projection bundle", + "abnormal aortic valve morphology", + "abnormality of cranial nerve physiology", "increased qualitatively biological_process in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", - "abnormal central nervous system morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", - "abnormal manus", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormal cerebrospinal fluid morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", + "Multiple cafe-au-lait spots (HPO)", + "increased pigmentation in independent continuant", + "pigmentation", + "manual digitopodium bone", + "increased biological_process in independent continuant", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "Abnormality of the skin (HPO)", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "increased pigmentation in skin of body", + "epithelial tube formation", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Localized skin lesion (HPO)", + "pelvic girdle skeleton", + "Abnormal peripheral nervous system morphology (HPO)", + "decreased length of anatomical entity", + "Abnormal uvea morphology (HPO)", + "abnormal kidney morphology", + "anterior uvea", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "abnormal internal female genitalia morphology", + "Aplasia/Hypoplasia affecting the anterior segment of the eye (HPO)", + "abnormal anterior segment of eyeball morphology", + "thoracic segment of trunk", + "abnormally formed anatomical entity in independent continuant", + "Abnormality of the autonomic nervous system (HPO)", + "abnormally formed anatomical entity", + "abnormal soft palate", + "abnormally fused anatomical entity and anatomical entity", + "Abnormal cellular immune system morphology (HPO)", + "aplasia or hypoplasia of palatine uvula", + "soft palate", + "roof of mouth", + "abnormal response to stimulus", + "morphological feature", "abnormal location of anatomical entity", - "abnormal anatomical entity", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "shape cornea", - "abnormal artery morphology", - "Abnormal forearm morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "Microphthalmia", - "abnormal external ear morphology", - "abnormal vein morphology", - "Decreased body weight", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "Abnormal small intestine morphology", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", - "abnormal cornea, asymmetrically curved", - "curvature anatomical entity", - "abnormal pes morphology", - "increased height of the anatomical entity", - "Limb undergrowth", + "abnormal oral cavity morphology", + "Abnormal hand morphology (HPO)", + "trachea", + "mouth", + "Abnormal heart valve morphology (HPO)", + "midface", + "Aplasia/Hypoplasia of the uvula (HPO)", + "systemic arterial system", + "anatomical projection", + "abnormal size of multicellular organism", + "abnormal mouth morphology", + "Abnormal conjugate eye movement (HPO)", + "abnormal midface", + "haemolymphatic fluid", + "Decreased fertility in males (HPO)", + "integument", + "abnormally fused pedal digit and pedal digit", + "Decreased fertility (HPO)", + "hindlimb joint", + "abnormal late embryo", + "cavitated compound organ", "abnormal upper urinary tract", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", - "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", - "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "Morphological abnormality of the gastrointestinal tract", - "abnormal reproductive system morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", - "abnormality of male reproductive system physiology", - "abnormal gamete generation", - "abnormality of camera-type eye physiology", - "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "Abnormal cardiac atrium morphology", - "Intellectual disability", - "Abnormal penis morphology", - "Abnormal tracheobronchial morphology", - "hypertrophic multicellular anatomical structure", + "root", + "malformed anatomical entity", + "septum", + "autopodial skeleton", + "pelvic girdle region", + "individual digit of digitopodial skeleton", + "Abnormal renal physiology (HPO)", + "abnormal bone of pelvic complex morphology", + "abnormal pedal digit", + "longitudinal arch of pes", + "pedal digitopodium region", + "leukocyte", + "clavate anatomical entity", + "Abnormality of ganglion (HPO)", + "abnormal skin of body", + "concave 3-D shape anatomical entity", + "decreased size of the anatomical entity in the pectoral complex", + "leg", + "facial bone", + "abnormal digit", + "sensory system", + "pedal digit bone", + "ventricular system of central nervous system", + "acropodium region", + "anatomical system", + "pedal digitopodium bone", "abnormal kidney", - "abnormal reproductive system", - "abnormal internal genitalia", - "abnormal male reproductive organ morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "decreased developmental process", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Recurrent infections", - "asymmetrically curved cornea", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "decreased length of long bone", - "curved anatomical entity", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", + "acropodial skeleton", + "trunk blood vessel", + "bone of pelvic complex", + "Hypoplasia of the ulna (HPO)", + "blood", + "Clubbing of toes (HPO)", + "Abnormality of peripheral nerves (HPO)", + "primary subdivision of skull", + "pedal digit phalanx endochondral element", + "ganglion", + "abnormal pigmentation in independent continuant", + "abnormal anterior chamber of eyeball morphology", "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "Slanting of the palpebral fissure", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal phenotype by ontology source", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormal developmental process", - "abnormal secondary palate morphology", - "Abnormal cornea morphology", - "Abnormal form of the vertebral bodies", - "entity", - "absent sperm in the independent continuant", - "abnormal anatomical entity, curved", - "abnormal spatial pattern of anatomical entity", - "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", - "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased biological_process in multicellular organism", - "quality", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", - "Hypertrophic cardiomyopathy", - "absent anatomical entity in the multicellular organism", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "abnormal gamete", - "Abnormality of the outer ear", - "Absent testis", - "abnormal face morphology", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", - "abnormal shape of continuant", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal head", - "abnormal cell", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormal spermatogenesis", - "Clubbing of toes", - "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", - "decreased spermatogenesis", - "abnormal kidney morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal visual perception", - "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "abnormal digestive system", - "abnormal craniocervical region morphology", - "abnormal cornea morphology", - "continuant", - "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "absent gamete", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", - "abnormality of nervous system physiology", - "Abnormal external genitalia", - "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", - "curved anatomical entity in independent continuant", - "bicornuate anatomical entity", - "anatomical entity hypoplasia in independent continuant", + "autopod endochondral element", + "autopod bone", + "hindlimb skeleton", "shape anatomical entity", - "abnormal vasculature", - "changed developmental process rate", - "abnormal genitourinary system", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "abnormal myocardium morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal male reproductive system physiology", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "Abnormal eye physiology", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", - "abnormal tracheobronchial tree morphology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", + "Clubbing (HPO)", + "prominent anatomical entity", + "Abnormal lower limb bone morphology (HPO)", + "Abnormality of the midface (HPO)", + "hindlimb long bone", + "abnormal integument", + "Abnormality of the genital system (HPO)", + "Abnormal digit morphology (HPO)", + "Abnormality of the lower limb (HPO)", + "abnormally formed anterior chamber of eyeball", + "Abnormal size of the palpebral fissures (HPO)", + "digit plus metapodial segment", + "tube formation", + "Abnormality of toe (HPO)", + "abnormal intestine morphology", + "Abnormality of the urinary system physiology (HPO)", + "Small intestinal stenosis (HPO)", + "Aplasia/Hypoplasia of facial bones (HPO)", + "Abnormality of limbs (HPO)", + "Duodenal stenosis (HPO)", + "Hydrocephalus (HPO)", + "internal genitalia", + "pes bone", + "abnormal multicellular organism morphology", + "duodenum", + "small intestine", + "Absent testis (HPO)", + "constricted duodenum", + "delayed growth", + "abnormal spinal cord", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", + "increased anatomical entity length in independent continuant", + "abnormal location of eyeball of camera-type eye", + "immaterial entity", + "Renal hypoplasia/aplasia (HPO)", + "nerve", + "abnormal duodenum morphology", + "non-material anatomical boundary", + "abnormal visual perception", "increased length of the anatomical line between pupils", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal anus", - "Atypical behavior", - "increased size of the brain ventricle", - "Anal atresia", - "abnormal small intestine", - "Abnormality of the anus", - "Weight loss", - "Abnormality of the forehead", + "chamber of eyeball", + "male germ cell", + "anatomical line", + "future nervous system", + "aplasia or hypoplasia of uvea", + "hypothalamus-pituitary axis", + "Abnormality of the female genitalia (HPO)", + "abnormal hypothalamus-pituitary axis", + "synovial joint of pelvic girdle", + "pes", + "abnormal sensory perception of sound", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "nervous system process", + "exocrine system", + "circulatory organ", + "abnormality of male reproductive system physiology", + "glandular system", + "kinesthetic behavior", + "flattened anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "Finger clinodactyly (HPO)", + "blood vessel", + "hepatobiliary system", + "anatomical space", + "intestine", + "Abnormality of the endocrine system (HPO)", + "manual digit bone", + "limb long bone", "abnormal prepuce of penis morphology", + "abnormal endocrine system", + "sloped anatomical entity", + "Abnormal anterior chamber morphology (HPO)", + "liver", + "amniotic fluid", + "increased size of the anatomical entity", + "Irregular hyperpigmentation (HPO)", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "abnormal size of brain ventricle", + "synovial joint", + "Myelodysplasia (HPO)", + "ileum", + "Aplasia/Hypoplasia of the testes (HPO)", + "abnormal peripheral nervous system", + "Abnormal eyelid morphology (HPO)", + "Neoplasm (HPO)", + "Hematological neoplasm (HPO)", + "hemolymphoid system", + "regional part of brain", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal cardial valve morphology", + "nucleate cell", + "skeleton of pes", + "stylopod", + "organ part", + "immune system", + "abnormal umbilicus morphology", + "Abnormal leukocyte morphology (HPO)", + "Abnormality of the eye (HPO)", + "hematopoietic cell", + "increased pigmentation", + "abnormal hematopoietic system", + "Abnormality of the forehead (HPO)", + "trunk bone", + "Leukopenia (HPO)", + "Decreased body weight (HPO)", + "abnormal immune system", + "erythroid lineage cell", + "Hernia (HPO)", + "pulmonary valve", + "flat bone", + "hematopoietic system", + "Abnormal neural tube morphology (HPO)", + "Abnormal duodenum morphology (HPO)", + "Macule (HPO)", + "abnormal forebrain morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormal soft palate morphology (HPO)", + "erythrocyte", + "telencephalon", + "Abnormality of prenatal development or birth (HPO)", + "embryonic tissue", + "Opisthokonta", "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "Abnormal pulmonary valve physiology", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "abnormal growth", - "abnormal cornea, curved", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormal lens morphology", - "opaque anatomical entity", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "drooping eyelid", + "segment of autopod", + "Eumetazoa", + "abnormal size of skull", + "Clinodactyly (HPO)", + "abnormal pes morphology", + "organism", + "trunk", + "Abnormality of the ulna (HPO)", + "pedal digit", + "abnormal size of anatomical entity", + "Microcephaly (HPO)", + "frontal lobe", + "ventricle of nervous system", + "pedal digit plus metapodial segment", + "abnormal biological_process in independent continuant", + "metabolic process", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "abnormal pigmentation", + "lower respiratory tract", + "Abnormality of forebrain morphology (HPO)", + "shape cornea", + "transudate", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "manual digit 1 digitopodial skeleton", + "abnormal vertebral column", + "vertebral column", + "Scoliosis (HPO)", + "Abnormality of the curvature of the vertebral column (HPO)", + "Abnormal ventriculoarterial connection (HPO)", + "Abnormal shape of the palpebral fissure (HPO)", + "tissue development", + "shape palpebral fissure", + "layer of muscle tissue", + "head bone", + "urethral meatus", + "Nystagmus (HPO)", + "Deviation of the hand or of fingers of the hand (HPO)", + "Abnormality of the urinary system (HPO)", + "renal system", + "lower urinary tract", + "abnormal respiratory system morphology", + "glans penis", + "eyelid", + "autopodial extension", + "male urethra", + "camera-type eye", + "urethral opening", + "Displacement of the urethral meatus (HPO)", + "Renal insufficiency (HPO)", + "abnormal testis morphology", + "male urethral meatus", + "abnormal sensory perception", + "abnormal cardial valve morphology in the heart", + "abnormal urethra", + "Abnormal immune system morphology (HPO)", + "Abnormality of the lower urinary tract (HPO)", + "abnormal renal system", + "phalanx of pes", + "eye movement", + "Abnormality of the nose (HPO)", + "abnormal asymmetry of face", + "Abnormal palate morphology (HPO)", + "internal naris atresia", + "non-connected functional system", + "internal naris", + "abnormal physiologic nystagmus", + "skeleton of pelvic complex", + "respiratory airway", + "kidney", + "chemosensory system", + "abnormal lower urinary tract", "posterior nasal aperture atresia", - "Choanal atresia", - "Abnormal axial skeleton morphology", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Short long bone", - "abnormal palpebral fissure", - "anus atresia", + "Abnormal foot morphology (HPO)", + "regional part of nervous system", + "orifice of skull", + "olfactory organ", + "naris", "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", + "abnormal ureter", + "abnormal palpebral fissure", + "gland", + "abnormal cardiac atrium morphology in the heart", + "abnormal postcranial axial skeleton morphology", + "axial skeleton plus cranial skeleton", + "axial skeletal system", "abnormal posterior nasal aperture morphology", - "Abnormality of the orbital region", - "abnormal nerve", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "Abnormality of the choanae", - "abnormal internal naris", - "decreased pigmentation in independent continuant", - "Hypospadias", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "abnormal renal system", - "abnormal urethra", - "Displacement of the urethral meatus", - "Morphological central nervous system abnormality", + "Abnormal bone ossification (HPO)", + "Abnormality of the urethra (HPO)", + "nose", + "increased qualitatively response to stimulus", + "endocrine system", + "skull", + "Abnormality of the choanae (HPO)", + "Abnormal platelet count (HPO)", + "drooping eyelid", + "drooping anatomical entity", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Meckel diverticulum (HPO)", + "pelvic region of trunk", + "Abnormality of the mouth (HPO)", + "Ptosis (HPO)", + "abnormal secondary palate morphology", + "abnormal lens of camera-type eye", + "hindlimb", + "Decreased multicellular organism mass", + "decreased anatomical entity mass", + "growth", + "abnormal digestive system", + "Abnormal male urethral meatus morphology (HPO)", + "Abnormality of digestive system morphology (HPO)", + "Weight loss (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "abnormally fused anatomical entity and digit", + "posterior nasal aperture", + "abnormal external genitalia", + "Growth abnormality (HPO)", + "eukaryotic cell", + "abnormality of multicellular organism mass", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "Astigmatism (HPO)", + "abdomen", + "anus atresia", + "abnormality of kidney physiology", + "enteric nervous system", + "anatomical entity atresia", + "abnormal anus", + "Abnormality of the anus (HPO)", + "Anorectal anomaly (HPO)", + "abnormal interventricular septum morphology", + "abnormal anatomical entity morphology in the heart", + "prepuce", + "Anal atresia (HPO)", "abnormal anus morphology", - "Abnormality of the urinary system", - "Abnormality of the lower urinary tract", - "Abnormal shape of the palpebral fissure", - "abnormal shape of palpebral fissure", - "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormality of the vertebral column", - "Macule", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", - "Scoliosis", - "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "Abnormal forebrain morphology", - "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Leukopenia", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "Abnormal uterus morphology", + "Abnormality iris morphology (HPO)", + "Abnormal systemic arterial morphology (HPO)", + "abnormal shape of continuant", + "abnormal systemic arterial system morphology", + "abnormal common carotid artery plus branches morphology", + "decreased size of the eyeball of camera-type eye", + "Abnormal skull morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "common carotid artery plus branches", + "abnormal bony vertebral centrum morphology", + "skeletal element", + "increased reflex", + "forelimb", + "zeugopod", + "limb endochondral element", + "abnormal nerve", + "musculoskeletal system", + "abnormal limb", + "abnormal arm", + "cranial bone", + "Abnormality of the amniotic fluid (HPO)", + "Umbilical hernia (HPO)", + "abnormal cardiac ventricle morphology", + "glans", + "paired limb/fin skeleton", + "abnormal long bone morphology", + "Hypertelorism (HPO)", + "Abnormal forearm bone morphology (HPO)", + "heart vasculature", + "arm", + "abnormally fused manual digit and anatomical entity", + "endochondral bone", + "skeleton of lower jaw", + "bone of appendage girdle complex", + "digit 1", + "upper jaw region", + "Abnormal oral morphology (HPO)", + "forelimb zeugopod skeleton", + "Recurrent infections (HPO)", + "organism subdivision", + "vestibulo-auditory system", + "integumental system", + "abnormal forelimb zeugopod bone morphology", + "response to stimulus", + "brain gray matter", + "forelimb endochondral element", + "secondary palate", "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "abnormally decreased number of cell in the independent continuant", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal immune system", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormally decreased number of hematopoietic cell", - "abnormal hematopoietic system", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Myelodysplasia", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Frontal bossing", - "abnormal size of brain ventricle", - "delayed biological_process", - "sloped forehead", - "Short forearm", - "abnormal biological_process", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", - "abnormal liver", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", + "male reproductive system", + "visual system", + "thoracic segment organ", + "limb bone", + "Abnormality of the immune system (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Cognitive impairment (HPO)", + "postcranial axial skeleton", "hypertrophic cardiac ventricle", - "increased anatomical entity length in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", - "Hypertelorism", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Oligohydramnios", - "abnormal soft palate morphology", - "Abnormal duodenum morphology", + "abnormal internal naris", + "abnormal incomplete closing of the interatrial septum", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "multi-limb segment region", + "High palate (HPO)", + "bodily fluid", + "abnormal anatomical entity morphology in the pectoral complex", + "Morphological central nervous system abnormality (HPO)", + "upper limb segment", + "immune system process", + "tunica fibrosa of eyeball", + "abnormal developmental process", + "bone of pectoral complex", + "abnormal ulna morphology", + "Oligohydramnios (HPO)", + "Abnormal skeletal morphology (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "Abnormal reflex (HPO)", + "Deviation of finger (HPO)", + "appendicular skeleton", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "motile cell", + "Abnormality of limb bone (HPO)", + "pedal digit digitopodial skeleton", + "abnormal anatomical entity", + "paired limb/fin", + "Abnormality of limb bone morphology (HPO)", + "abnormal great vessel of heart morphology", + "abnormal appendicular skeleton morphology", + "increased biological_process", + "arm bone", "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "Duodenal stenosis", - "abnormal intestine morphology", - "Abnormality of the lower limb", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal digit", + "embryonic epithelial tube formation", + "abnormality of camera-type eye physiology", + "cranial nerve", + "abnormal incomplete closing of the anatomical entity", + "pectoral appendage", + "nervous system cell part layer", + "skeleton", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of reproductive system physiology (HPO)", + "abnormal opening of the anatomical entity", + "abnormal limb bone morphology", + "vasculature", + "Abnormal nervous system morphology (HPO)", + "abnormal skeletal system", + "homeostasis of number of cells", + "embryo", + "appendage", + "obsolete cell", + "male reproductive organ", + "Abnormal nervous system physiology (HPO)", + "Abnormality of cardiovascular system morphology (HPO)", + "Cleft palate (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "multi organ part structure", + "Abnormal venous morphology (HPO)", + "Abnormality of the cardiovascular system (HPO)", + "iris", + "Abnormality of the vasculature (HPO)", + "Abnormality of the vertebral column (HPO)", + "umbilicus", + "vascular system", + "cranium", + "abnormal bone of pectoral complex morphology", + "abnormal phalanx of manus morphology", + "arterial system", + "abnormal head bone morphology", + "abnormal leg", + "abnormal nose", + "long bone", + "Abnormal cerebral cortex morphology (HPO)", + "abnormal internal male genitalia", + "vein", + "abnormality of anatomical entity physiology", + "artery", + "increased size of the anatomical entity in independent continuant", + "Recurrent urinary tract infections (HPO)", + "protein-containing material entity", + "dermal skeletal element", + "Abnormality of the ear (HPO)", + "nervous system development", + "biological_process", + "Abnormal connection of the cardiac segments (HPO)", + "sexual reproduction", + "abnormal anatomical entity, curved", + "subdivision of skeleton", + "anatomical cluster", + "viscus", + "arterial blood vessel", + "esophagus", + "digit 5", + "venous blood vessel", + "Hernia of the abdominal wall (HPO)", + "epithelial tube", + "abnormal digestive system morphology", + "quality", + "manual digit digitopodial skeleton", + "asymmetrically curved anatomical entity", + "forelimb zeugopod bone", + "penis", + "Abnormal penis morphology (HPO)", + "abnormal head morphology", + "Hypermelanotic macule (HPO)", + "constricted anatomical entity", + "limb", + "Abnormality of brain morphology (HPO)", + "intromittent organ", + "system process", + "Abnormal blood vessel morphology (HPO)", + "organ component layer", + "Intellectual disability (HPO)", + "eye", + "Abnormal eye physiology (HPO)", + "endocrine gland", + "Neurodevelopmental abnormality (HPO)", + "abnormal iris morphology", + "tissue", + "Abnormality of mental function", + "paired limb/fin segment", + "urethra", + "central nervous system", + "abnormal pelvic girdle bone/zone morphology", + "skeleton of limb", + "shape forehead", + "abnormal soft palate morphology", + "morphogenesis of embryonic epithelium", + "palatine uvula", + "nervous system", + "abnormal vestibulo-ocular reflex", + "abnormal small intestine", + "Decreased anatomical entity mass", + "brain ventricle/choroid plexus", + "Abnormal appendicular skeleton morphology (HPO)", + "abnormal trachea morphology", + "upper digestive tract", + "Abnormality of the cerebrospinal fluid (HPO)", + "Abnormal ventricular septum morphology (HPO)", + "system", + "Abnormality of skull size (HPO)", + "cerebrospinal fluid", + "epithelium", + "process", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormality of anatomical entity mass", + "abnormal innominate bone morphology", + "bone element", + "Sloping forehead (HPO)", + "abnormal female reproductive system", + "abnormal nervous system morphology", + "mandible", + "zeugopodial skeleton", + "abnormal anatomical entity mass density", + "decreased developmental process", + "male gamete generation", + "upper urinary tract", + "delayed biological_process", + "skeletal system", + "hindlimb endochondral element", + "Decreased head circumference (HPO)", + "abnormally increased number of brain ventricle in the independent continuant", + "lateral structure", + "manual digit plus metapodial segment", + "abnormal nervous system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Dolichocephaly (HPO)", + "appendage girdle complex", + "Puberty and gonadal disorders (HPO)", + "Abnormal morphology of ulna (HPO)", + "Hydroureter (HPO)", + "innominate bone", + "abnormally increased number of anatomical entity", + "Abnormal preputium morphology (HPO)", + "decreased multicellular organism mass", + "physiologic nystagmus", + "Abnormality of skin morphology (HPO)", + "Abnormal cerebral ventricle morphology (HPO)", + "Epicanthus (HPO)", + "cardiovascular system", + "abdominal segment bone", "3-D shape anatomical entity", - "abnormal pedal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Almond-shaped palpebral fissure", + "Abnormality of the testis size (HPO)", + "Abnormality of refraction (HPO)", + "brain ventricle", + "disconnected anatomical group", + "ocular surface region", + "gamete", + "changed biological_process rate in independent continuant", + "Abnormality of the small intestine (HPO)", + "eyeball of camera-type eye", + "Abnormality of the curvature of the cornea (HPO)", + "Abnormal cornea morphology (HPO)", + "abnormal shape of cornea", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "skeleton of manus", + "abnormal shape of external ear", + "anterior segment of eyeball", + "bone element hypoplasia in face", + "blood vasculature", + "cornea", + "hindlimb bone", + "oviduct", + "Abnormal eye morphology (HPO)", + "reproductive organ", + "organism substance", + "digitopodium bone", + "forelimb zeugopod bone hypoplasia", + "Growth delay (HPO)", + "curvature anatomical entity in independent continuant", + "abnormal camera-type eye morphology", + "abnormal cornea, curved", + "anatomical structure", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal face", + "Abnormality of the lens (HPO)", + "Abnormal anterior eye segment morphology (HPO)", "shape digit", - "Clubbing", - "abnormal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "Abnormal midface morphology", - "abnormal male reproductive system", - "abnormal mouth morphology", - "abnormal oral cavity morphology", - "Hernia of the abdominal wall", - "Abnormal palate morphology", - "abnormal midface morphology", - "Abnormal soft palate morphology", - "clavate anatomical entity", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "abnormal integument", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "abnormal cardiac valve morphology in the heart", + "aplasia or hypoplasia of iris", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal limb bone", + "excretory system", + "abnormal skeletal joint morphology", + "Arteriovenous malformation (HPO)", + "aplasia or hypoplasia of telencephalon", + "abnormal brain morphology", + "abnormal cornea morphology", + "abnormal bone element mass density", + "manual digitopodium region", + "brain", + "digitopodium region", + "increased biological_process in skin of body", + "abnormal cornea, asymmetrically curved", + "Abnormal intestine morphology (HPO)", + "heart left ventricle", + "aplasia or hypoplasia of manual digit", + "tube", + "Abnormality of lower limb joint (HPO)", + "ulna endochondral element", + "Abnormality of the liver (HPO)", + "response to external stimulus", + "Abnormal respiratory system morphology (HPO)", + "abnormal brain ventricle morphology", + "autopod region", + "compound organ", + "clavate digit", + "Deviation of the 5th finger (HPO)", + "anatomical entity", + "pectoral complex", + "ulna", + "trunk region element", + "digestive system element", + "external soft tissue zone", + "gray matter", + "abnormal ocular adnexa morphology", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "Abnormal pulmonary valve morphology (HPO)", + "Abnormality of the calvaria (HPO)", + "respiratory tract", + "proximo-distal subdivision of respiratory tract", + "Sideroblastic anemia (HPO)", + "body proper", + "abnormal forelimb zeugopod", + "Abnormality of the digestive system (HPO)", + "hemopoiesis", + "femur", + "Metazoa", + "Neurodevelopmental delay (HPO)", + "multicellular organism reproduction", + "abnormal tracheobronchial tree morphology", + "subdivision of digestive tract", + "subdivision of tube", + "abdominal segment element", + "Abnormal tracheal morphology (HPO)", + "abnormal neural tube closure", + "Upper limb undergrowth (HPO)", + "digestive system", + "abnormal growth", + "Abnormal internal genitalia (HPO)", + "respiratory system", + "immaterial anatomical entity", + "Abnormal reproductive system morphology (HPO)", + "Abnormality of head or neck (HPO)", + "endochondral element", + "respiratory tube", + "abnormal blood vessel morphology", + "Ocular anterior segment dysgenesis (HPO)", + "curvature anatomical entity", + "Tracheoesophageal fistula (HPO)", + "skin of body", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "Abnormality of the phalanges of the toes (HPO)", + "multi-tissue structure", + "abnormal central nervous system morphology", + "Cryptorchidism (HPO)", + "abnormal closing of the anatomical entity", + "material entity", + "abnormal head", + "asymmetrically curved cornea", + "increased qualitatively biological_process", + "Abnormal localization of kidney (HPO)", + "anatomical line between pupils", + "system development", + "ocular adnexa", + "zone of skin", + "abnormal palatine uvula morphology", + "late embryo", + "abnormal external male genitalia", + "digestive tract", + "abnormal phalanx of pes", + "endoderm-derived structure", + "tracheobronchial tree", + "Hyperpigmentation of the skin (HPO)", + "abnormal cardiovascular system", + "Abnormality of the respiratory system (HPO)", + "Syndactyly (HPO)", + "pectoral appendage skeleton", + "male gamete", + "ectoderm-derived structure", + "Abnormal male reproductive system physiology (HPO)", + "Abnormality of thrombocytes (HPO)", + "Abnormal umbilicus morphology (HPO)", + "anatomical wall", + "Abnormal pinna morphology (HPO)", + "skeleton of pedal acropodium", + "abnormal shape of palpebral fissure", + "abnormal external ear morphology", + "abnormal reproductive system morphology", + "Conotruncal defect (HPO)", + "Cataract (HPO)", + "abnormal external ear", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal zone of skin morphology", + "digit 1 digitopodial skeleton", + "postcranial axial skeletal system", + "abnormal ear morphology", + "musculature of body", + "ventricular system of brain", + "reproductive system", + "Abnormal ear morphology (HPO)", + "joint of girdle", + "abnormal uvea morphology", + "Abnormality of globe location (HPO)", + "Abnormality of the gastrointestinal tract (HPO)", + "abnormal male reproductive organ morphology", + "male organism", + "skeleton of pedal digitopodium", + "abnormal reproductive process", + "transparent eye structure", + "lower limb segment", + "abnormal sensory perception of light stimulus", + "exocrine gland", + "abnormal esophagus morphology", + "lens of camera-type eye", + "behavior", + "anatomical conduit", + "Non-obstructive azoospermia (HPO)", + "abnormal incomplete closing of the ductus arteriosus", + "Abnormal spermatogenesis (HPO)", + "Abnormal oral cavity morphology (HPO)", + "abnormal skeletal system morphology", + "Joint dislocation (HPO)", + "internal male genitalia", + "occurrent", "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", + "Hypopigmented skin patches (HPO)", + "shape anatomical entity in independent continuant", + "cardiac chamber", + "changed developmental process rate", + "Abnormality of long bone morphology (HPO)", "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "paralysed cranial nerve", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormal peripheral nervous system morphology", - "Cranial nerve paralysis", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Aplasia/Hypoplasia of fingers", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", + "heart", + "Abnormality of the genitourinary system (HPO)", + "continuant", + "haploid cell", + "Short stature (HPO)", + "Upslanted palpebral fissure (HPO)", + "abnormal developmental process involved in reproduction", + "decreased biological_process in multicellular organism", + "hypertrophic multicellular anatomical structure", + "spermatogenesis", + "gray matter of telencephalon", + "parasympathetic nervous system", + "vertebra", + "prepuce of penis", + "abnormal liver", + "abnormally fused anatomical entity and pedal digit", + "Abnormality of ganglion of peripheral nervous system (HPO)", + "abnormality of nervous system physiology", + "abnormal enteric ganglion morphology", + "Abnormality of male external genitalia (HPO)", + "abnormality of anatomical entity height", + "abnormal genitourinary system", + "appendicular skeletal system", + "cranial nerve related reflex", + "abnormal anatomical entity morphology in the independent continuant", + "increased height of anatomical entity in independent continuant", + "germ cell", + "abnormality of cardiovascular system physiology", + "multicellular organism development", + "abnormal spermatogenesis", + "shape eyelid", + "craniocervical region", + "abnormal connective tissue", + "aortic valve", + "abnormal eyeball of camera-type eye", + "testis", + "Triphalangeal thumb (HPO)", + "forelimb long bone", + "Limb undergrowth (HPO)", + "cell", + "phenotype by ontology source", + "germ line cell", + "Abnormal heart morphology (HPO)", + "abnormal gamete generation", + "gamete generation", + "abnormal embryonic tissue morphology", + "subdivision of organism along appendicular axis", + "abnormal forelimb zeugopod bone", + "left cardiac chamber", + "abnormal vascular system morphology", + "increased height of the anatomical entity", + "external male genitalia", + "developmental process", + "multicellular organismal process", "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the eye", - "Finger clinodactyly", - "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "Abnormality of the skeletal system", - "Deviation of finger", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the ulna", + "external genitalia", + "reproductive structure", + "abnormal semi-lunar valve morphology", + "anatomical structure formation involved in morphogenesis", + "abnormal reproductive system", + "animal cell", + "abnormality of reproductive system physiology", + "gonad", + "phalanx endochondral element", + "Abnormal ear physiology (HPO)", + "limb skeleton subdivision", + "ecto-epithelium", + "Abnormal upper limb bone morphology (HPO)", + "face", + "Pes planus (HPO)", + "abnormal craniocervical region", + "Hip dislocation (HPO)", + "decreased qualitatively biological_process", + "decreased biological_process", + "Choanal atresia (HPO)", + "olfactory system", + "abnormal cerebrospinal fluid", + "simple eye", + "abnormal peripheral nervous system morphology", + "ductus arteriosus", + "abnormal eyelid morphology", + "neuron projection bundle", + "abnormal heart right ventricle morphology", + "Abnormality of forearm bone (HPO)", + "semen", + "Abnormal facial shape (HPO)", + "curved anatomical entity in independent continuant", + "neural crest-derived structure", + "Abnormality of the abdominal organs (HPO)", + "anterior chamber of eyeball", + "Abnormal right ventricle morphology (HPO)", + "Abnormal leukocyte count (HPO)", + "increased size of the brain ventricle", + "Abnormal testis morphology (HPO)", + "multicellular organism", + "Abnormal uvula morphology (HPO)", + "decreased qualitatively pigmentation", + "abnormal ocular adnexa", + "abnormal vein morphology", + "flat anatomical entity", + "Abnormality of the kidney (HPO)", + "Abnormal external genitalia (HPO)", + "Abnormal cerebral morphology (HPO)", + "aplasia or hypoplasia of skeleton", + "Aplasia/Hypoplasia affecting the uvea (HPO)", + "developmental process involved in reproduction", + "heart right ventricle", + "cellular organisms", + "manual digit", + "main body axis", + "Abnormality of the integument (HPO)", + "segment of pes", + "multicellular organismal reproductive process", + "abdomen element", + "Abnormal vascular morphology (HPO)", + "subdivision of trunk", + "external ear", + "reproduction", + "abnormal cardiovascular system morphology", + "erythrocyte homeostasis", + "abnormal arch of centrum of vertebra", + "venous system", + "Abnormal renal morphology (HPO)", + "abnormal hip joint morphology", + "Hypospadias (HPO)", + "Abnormal axial skeleton morphology (HPO)", + "changed biological_process rate", + "material anatomical entity", + "Abnormality of connective tissue (HPO)", + "abnormal number of anatomical enitites of type anatomical entity", + "entity", + "Abnormal cardiovascular system physiology (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "cardiac valve", + "decreased spermatogenesis", + "digit 1 plus metapodial segment", + "abnormal ear", + "Hypogonadism (HPO)", + "sensory perception of light stimulus", + "somatic cell", + "Abnormal erythrocyte morphology (HPO)", + "Abnormal shape of the frontal region (HPO)", + "Abnormal frontal bone morphology (HPO)", + "Abnormality of male internal genitalia (HPO)", + "abnormal internal genitalia", + "anatomical collection", + "cranial skeletal system", + "Azoospermia (HPO)", + "curved anatomical entity", + "zone of organ", + "orifice", + "abnormal orbital region", + "abnormal male reproductive system", + "aplasia or hypoplasia of anatomical entity", + "primary circulatory organ", + "Abnormality of corneal shape (HPO)", + "decreased qualitatively reproductive process", + "native cell", + "uvea", + "increased size of the head", + "Abnormality of the palpebral fissures (HPO)", + "bone of free limb or fin", + "bone of jaw", + "organ", + "Anemia of inadequate production (HPO)", + "manual digit phalanx endochondral element", + "jaw region", + "Abnormality of thumb phalanx (HPO)", + "pelvic appendage skeleton", + "entire sense organ system", + "multicellular organismal-level homeostasis", + "manus bone", + "Abnormality of the male genitalia (HPO)", + "posterior region of body", + "anatomical cavity", + "Abnormal ocular adnexa morphology (HPO)", + "systemic artery", + "abnormal size of head", + "manual digit 5 plus metapodial segment", + "structure with developmental contribution from neural crest", + "skin of face", + "decreased qualitatively developmental process", + "pelvic complex", + "sperm", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "sense organ", + "circulatory system", + "Abnormality of the ocular adnexa (HPO)", + "flat longitudinal arch of pes", + "Abnormality of the face (HPO)", + "genitourinary system", + "multicellular anatomical structure", + "head", + "Ventricular septal defect (HPO)", + "subdivision of head", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "abnormal alimentary part of gastrointestinal system", + "3-D shape anatomical entity in independent continuant", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "abnormally fused pedal digit and anatomical entity", + "autonomic ganglion", + "palpebral fissure", + "ear", + "forelimb bone", + "Hearing abnormality (HPO)", + "cognition", + "abnormal anatomical entity morphology in the skeleton of manus", + "coronary vessel", + "abnormal anatomical entity, asymmetrically curved", + "phalanx", + "abnormally fused anatomical entity and manual digit", + "digestive system gland", + "Abnormality of the synovia (HPO)", + "Neoplasm by anatomical site (HPO)", + "abnormal penis", + "Cardiomyopathy (HPO)", + "thoracic cavity element", + "abnormal hard palate morphology", + "abnormal phenotype by ontology source", + "Abnormal cellular phenotype (HPO)", + "alimentary part of gastrointestinal system", + "abnormal amniotic fluid", + "phenotype", + "subdivision of organism along main body axis", + "radius endochondral element", + "abnormal respiratory tube morphology", + "reproductive process", + "cell development", + "All (HPO)", + "prominent forehead", + "Abnormality of the outer ear (HPO)", + "anterior region of body", + "vessel", + "Ventriculomegaly (HPO)", + "Phenotypic abnormality", + "abnormal ulna", + "orbital region", + "Abnormality of the upper urinary tract (HPO)", ], "has_phenotype_count": 106, "highlight": None, "score": None, }, { - "id": "Reactome:R-CEL-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:6239", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-MMU-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10090", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-RNO-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10116", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-XTR-6783310", + "id": "Reactome:R-CFA-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": None, @@ -2254,7 +3265,7 @@ def search(): "description": None, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:8364", + "in_taxon": "NCBITaxon:9615", "in_taxon_label": None, "symbol": None, "synonym": [], @@ -2269,31 +3280,18 @@ def search(): "score": None, }, { - "id": "MONDO:0001083", + "id": "MONDO:0060779", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome", + "name": "acquired Fanconi 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.", + "description": "Fanconi Syndrome caused by exposure to noxious agents.", "xref": [], "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", - ], + "synonym": ["acquired Fanconi syndrome"], "uri": None, "namespace": "MONDO", "has_phenotype": [], @@ -2305,53 +3303,7 @@ def search(): "score": None, }, { - "id": "Reactome:R-DRE-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:7955", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-DME-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:7227", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-HSA-6783310", + "id": "Reactome:R-XTR-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": None, @@ -2359,7 +3311,7 @@ def search(): "description": None, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9606", + "in_taxon": "NCBITaxon:8364", "in_taxon_label": None, "symbol": None, "synonym": [], @@ -2397,7 +3349,7 @@ def search(): "score": None, }, { - "id": "Reactome:R-DDI-6783310", + "id": "Reactome:R-DRE-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": None, @@ -2405,7 +3357,7 @@ def search(): "description": None, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:44689", + "in_taxon": "NCBITaxon:7955", "in_taxon_label": None, "symbol": None, "synonym": [], @@ -2420,7 +3372,7 @@ def search(): "score": None, }, { - "id": "Reactome:R-GGA-6783310", + "id": "Reactome:R-DME-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": None, @@ -2428,7 +3380,7 @@ def search(): "description": None, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9031", + "in_taxon": "NCBITaxon:7227", "in_taxon_label": None, "symbol": None, "synonym": [], @@ -2443,7 +3395,7 @@ def search(): "score": None, }, { - "id": "Reactome:R-SSC-6783310", + "id": "Reactome:R-HSA-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": None, @@ -2451,7 +3403,7 @@ def search(): "description": None, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9823", + "in_taxon": "NCBITaxon:9606", "in_taxon_label": None, "symbol": None, "synonym": [], @@ -2482,243 +3434,489 @@ def search(): "namespace": "MONDO", "has_phenotype": ["HP:0002754", "HP:0002783", "HP:0005939", "HP:0001876", "HP:0007606"], "has_phenotype_label": [ - "Osteomyelitis", - "Recurrent lower respiratory tract infections", - "Multiple bilateral pneumothoraces", - "Pancytopenia", - "Multiple cutaneous malignancies", + "Osteomyelitis (HPO)", + "Recurrent lower respiratory tract infections (HPO)", + "Multiple bilateral pneumothoraces (HPO)", + "Pancytopenia (HPO)", + "Multiple cutaneous malignancies (HPO)", ], "has_phenotype_closure": [ - "HP:0008069", - "UPHENO:0002635", - "UPHENO:0063722", - "UPHENO:0086005", - "UPHENO:0011498", - "UPHENO:0087123", - "UPHENO:0088166", - "UPHENO:0085195", - "UPHENO:0004459", - "HP:0032251", - "UPHENO:0086049", - "HP:0010987", - "UPHENO:0087339", - "UPHENO:0085189", - "HP:0011893", - "UPHENO:0086172", - "HP:0012145", - "UPHENO:0085344", - "UPHENO:0076675", - "HP:0001881", - "HP:0025461", + "UPHENO:0003811", + "HP:0011793", + "HP:0001574", + "UBERON:0004121", + "HP:0002664", + "CL:0002092", + "HP:0001871", "HP:0011875", - "UPHENO:0076703", - "HP:0005561", - "HP:0011873", - "UPHENO:0087355", - "UPHENO:0086173", - "UPHENO:0085371", - "HP:0001876", + "HP:0001872", + "UBERON:0002390", + "HP:0001881", + "CL:0000458", + "HP:0007606", + "CL:0002371", "HP:0025354", - "UPHENO:0085070", - "UPHENO:0085984", - "HP:0020047", - "UPHENO:0006910", - "UPHENO:0085144", - "UPHENO:0081590", + "HP:0011873", + "CL:0000764", + "CL:0000763", + "UBERON:0002193", + "HP:0011842", + "CL:0000548", + "CL:0000457", + "HP:0005561", + "CL:0000151", + "CL:0002242", + "CL:0000219", + "CL:0000329", + "UPHENO:0076703", + "UBERON:0004120", + "CL:0001035", "HP:0005939", + "UBERON:0000077", + "OBI:0100026", + "PR:000050567", + "NCBITaxon:33154", + "UBERON:0001474", + "NCBITaxon:131567", + "UBERON:0005906", + "UPHENO:0004459", + "NCBITaxon:6072", + "UPHENO:0081590", + "UBERON:0000170", + "HP:0025461", + "CL:0000081", + "UBERON:0004119", + "UPHENO:0004536", + "UBERON:0000915", + "HP:0020047", + "UBERON:0001005", + "UBERON:0000025", + "UBERON:0003103", + "UBERON:0005177", + "UPHENO:0081581", + "HP:0002719", + "HP:0032101", + "UBERON:0011676", + "UPHENO:0020584", + "CL:0000988", + "UPHENO:0015280", + "HP:0011947", + "UBERON:0000064", + "BFO:0000020", + "UBERON:0013701", + "UBERON:0000468", + "HP:0002088", + "UBERON:0000171", + "UPHENO:0076692", + "UBERON:0005181", + "GO:0006954", + "HP:0002205", + "UBERON:0015212", + "NCBITaxon:1", + "UBERON:0000042", + "HP:0002086", + "UBERON:0000467", + "UBERON:0010000", + "UBERON:0000065", + "UBERON:0002416", + "UBERON:0000465", + "HP:0002783", + "UBERON:0005178", + "GO:0006950", "HP:0001873", + "CL:0000225", + "UBERON:0002048", + "UBERON:0001062", + "CL:0000255", + "UPHENO:0080693", + "CL:0000003", + "UBERON:0000062", + "UBERON:0001004", + "UPHENO:0054970", + "BFO:0000003", + "HP:0032251", + "UBERON:0009569", + "PATO:0000001", + "UBERON:0004111", + "HP:0011843", + "HP:0008069", + "UBERON:0009778", + "HP:0000924", + "UBERON:0004765", + "HP:0002103", + "UPHENO:0075696", + "BFO:0000002", + "UPHENO:0074685", + "HP:0000118", + "UPHENO:0082723", + "UPHENO:0049588", + "HP:0012145", + "GO:0006952", + "UPHENO:0049586", + "UPHENO:0059829", + "NCBITaxon:33208", + "UBERON:0000072", + "UPHENO:0002635", + "HP:0012647", + "UPHENO:0002536", + "CL:0000738", + "UBERON:0000061", + "CL:0000000", + "UPHENO:0082875", + "UBERON:0015203", + "UPHENO:0049587", + "UBERON:0002075", "HP:0002107", - "HP:0002783", - "UPHENO:0085302", - "UPHENO:0001001", - "HP:0002086", - "HP:0000001", - "UPHENO:0085118", + "BFO:0000004", + "UBERON:0034923", + "UBERON:0002100", + "HP:0002754", + "UPHENO:0001003", "UPHENO:0081440", - "HP:0002715", - "UPHENO:0080377", + "UBERON:0002199", + "HP:0010978", + "BFO:0000040", + "HP:0011893", + "UPHENO:0001005", + "UBERON:0002097", + "CL:0000232", "UPHENO:0083263", + "UPHENO:0049584", + "GO:0008150", + "CL:0000233", + "HP:0012649", + "NCBITaxon:2759", + "UPHENO:0074624", "UPHENO:0074572", - "UPHENO:0085068", - "HP:0011843", - "HP:0002088", - "UPHENO:0001003", - "UPHENO:0001002", - "UPHENO:0049586", + "UBERON:0034925", "UPHENO:0002263", - "UPHENO:0049588", - "UPHENO:0002536", - "HP:0011842", - "UPHENO:0002332", + "UBERON:0001558", + "UPHENO:0002964", + "UPHENO:0001002", + "UBERON:0000481", + "UPHENO:0020748", + "UBERON:0001434", + "HP:0002715", + "UBERON:0011216", "HP:0033127", - "UPHENO:0059829", - "UPHENO:0084987", - "UPHENO:0049587", - "UPHENO:0049584", - "UPHENO:0077426", - "UPHENO:0075696", - "UPHENO:0084928", - "UPHENO:0082875", + "HP:0000001", + "UPHENO:0074687", + "GO:0050896", + "UPHENO:0080377", + "UPHENO:0080662", + "UBERON:0002371", + "UBERON:0000060", + "UBERON:0013522", "BFO:0000001", - "BFO:0000002", + "UPHENO:0080221", "UPHENO:0076684", - "HP:0000924", "HP:0000951", - "UPHENO:0080221", - "UPHENO:0074685", + "UBERON:0000479", + "HP:0001876", "UPHENO:0019970", - "HP:0000118", - "UPHENO:0074687", - "UPHENO:0080693", - "HP:0011793", - "UPHENO:0002948", - "UPHENO:0080662", - "UPHENO:0074624", - "UPHENO:0002964", - "HP:0010978", - "HP:0012252", - "HP:0002754", - "HP:0001574", - "UPHENO:0082723", - "HP:0001871", - "UPHENO:0086045", + "HP:0010987", + "UBERON:0002204", "UPHENO:0082682", - "UPHENO:0086908", - "UPHENO:0001005", - "HP:0012647", - "HP:0002664", - "BFO:0000020", - "HP:0007606", - "HP:0012649", - "UPHENO:0003811", - "HP:0002103", - "HP:0032101", - "UPHENO:0020584", - "UPHENO:0020748", - "HP:0011947", - "UPHENO:0054970", - "PATO:0000001", - "HP:0002719", - "HP:0002205", - "UPHENO:0004536", - "HP:0001872", - "UPHENO:0076692", - "UPHENO:0015280", - "UPHENO:0087433", + "UBERON:0002405", + "UPHENO:0002332", + "UBERON:0000977", + "UBERON:0013702", + "HP:0012252", + "UPHENO:0002948", + "BFO:0000015", + "UBERON:0000475", + "UPHENO:0001001", ], "has_phenotype_closure_label": [ - "Multiple cutaneous malignancies", - "Abnormality of the integument", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Neoplasm of the skin", - "abnormal number of anatomical enitites of type platelet", - "abnormal number of anatomical enitites of type cell", - "Abnormal cellular immune system morphology", - "Abnormal cellular phenotype", - "Abnormal platelet morphology", - "abnormal skeletal system morphology", - "Abnormality of blood and blood-forming tissues", + "Abnormality of the integument (HPO)", + "ectoderm-derived structure", + "integumental system", + "Abnormality of the skin (HPO)", + "Neoplasm of the skin (HPO)", "abnormal skin of body", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormally decreased number of platelet", - "Abnormal leukocyte count", - "Abnormal cell morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormally decreased number of hematopoietic cell", - "abnormal bone marrow morphology", - "Neoplasm", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal platelet count", - "abnormal blood cell", - "Pancytopenia", - "abnormal platelet", - "abnormal bone marrow cell", - "abnormal bone marrow cell morphology", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal immune system morphology", - "Abnormal skeletal morphology", - "Abnormality of thrombocytes", - "All", - "Respiratory tract infection", - "Abnormality of the musculoskeletal system", - "abnormal myeloid cell morphology", - "increased inflammatory response in bone element", - "abnormal phenotype by ontology source", - "Neoplasm by anatomical site", - "Thrombocytopenia", - "quality", - "phenotype", - "Increased inflammatory response", - "abnormal inflammatory response", - "phenotype by ontology source", - "Osteomyelitis", - "Multiple bilateral pneumothoraces", - "abnormal anatomical entity", - "abnormal immune system", - "abnormality of anatomical entity physiology", - "Abnormality of the skin", - "Phenotypic abnormality", - "Recurrent respiratory infections", - "abnormal cell", - "abnormally decreased number of cell", - "Recurrent infections", - "Abnormal inflammatory response", - "abnormal response to stress", - "Abnormal myeloid cell morphology", - "increased biological_process in bone element", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", + "abnormal integument", + "native cell", + "hemolymphoid system", + "Pancytopenia (HPO)", + "tissue", + "Thrombocytopenia (HPO)", + "erythroid lineage cell", + "anucleate cell", + "secretory cell", + "eukaryotic cell", + "Multiple cutaneous malignancies (HPO)", + "motile cell", + "oxygen accumulating cell", + "Abnormal immune system morphology (HPO)", + "Abnormal leukocyte count (HPO)", + "nucleate cell", + "bone marrow cell", + "biogenic amine secreting cell", + "Abnormal cellular phenotype (HPO)", + "serotonin secreting cell", + "bone cell", + "somatic cell", + "animal cell", + "erythrocyte", + "Abnormal myeloid cell morphology (HPO)", + "myeloid cell", + "Abnormal platelet morphology (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Abnormality of thrombocytes (HPO)", + "mixed endoderm/mesoderm-derived structure", + "Opisthokonta", + "cellular organisms", + "serous sac", + "skeletal element", + "Abnormal pleura morphology (HPO)", + "Eumetazoa", + "multi-tissue structure", + "protein-containing material entity", + "Metazoa", + "mesoderm-derived structure", + "bone marrow", + "Eukaryota", + "serous membrane", + "pleura", + "Multiple bilateral pneumothoraces (HPO)", + "compound organ", + "proximo-distal subdivision of respiratory tract", + "organ", "abnormal hematopoietic system", + "abnormal lung morphology", + "lateral structure", + "abnormal multicellular organism morphology", + "Respiratory tract infection (HPO)", + "hematopoietic system", + "blood cell", + "subdivision of tube", + "abnormal pleura morphology", + "respiratory system", + "leukocyte", + "response to stress", + "organ part", + "Abnormal cellular immune system morphology (HPO)", + "respiratory tract", + "anatomical conduit", + "Abnormal cell morphology (HPO)", + "respiratory airway", + "viscus", + "thoracic segment organ", + "response to stimulus", + "thoracic segment of trunk", + "pair of lungs", + "endoderm-derived structure", + "Neoplasm (HPO)", + "respiration organ", + "Recurrent respiratory infections (HPO)", + "abnormal respiratory system morphology", + "subdivision of trunk", + "main body axis", + "abnormal phenotype by ontology source", + "trunk", + "Abnormality of blood and blood-forming tissues (HPO)", + "lung", + "Recurrent infections (HPO)", + "integument", + "Abnormal respiratory system morphology (HPO)", + "abnormal biological_process", + "immune system", + "Abnormality of immune system physiology (HPO)", + "abnormal skeletal system", + "disconnected anatomical group", + "increased qualitatively biological_process in independent continuant", + "abnormality of immune system physiology", + "skeletal system", + "pleural sac", + "increased qualitatively response to stimulus", + "Abnormality of bone marrow cell morphology (HPO)", + "specifically dependent continuant", + "organ system subdivision", + "multicellular organism", "entity", - "Abnormality of the immune system", - "abnormal hematopoietic system morphology", - "increased inflammatory response in independent continuant", + "Abnormality of musculoskeletal physiology (HPO)", "abnormality of musculoskeletal system physiology", - "Abnormality of the skeletal system", - "increased qualitatively inflammatory response in independent continuant", - "specifically dependent continuant", - "abnormality of immune system physiology", - "Abnormality of bone marrow cell morphology", + "thoracic cavity element", + "tube", + "Recurrent lower respiratory tract infections (HPO)", + "hematopoietic cell", + "abnormal response to stress", + "Abnormal inflammatory response (HPO)", + "lower respiratory tract", + "organism subdivision", + "Abnormal platelet count (HPO)", + "inflammatory response", + "increased biological_process in bone element", + "Phenotypic abnormality", + "abnormal skeletal system morphology", + "anatomical collection", + "abnormal anatomical entity morphology", + "process", + "quality", + "anatomical system", + "Unusual infection (HPO)", + "anatomical structure", + "platelet", + "subdivision of organism along main body axis", "increased inflammatory response", - "abnormal biological_process", - "abnormal integument", - "abnormal cell morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of immune system physiology", - "increased qualitatively response to stimulus", - "increased qualitatively biological_process in independent continuant", - "Abnormal lung morphology", + "Abnormal skeletal morphology (HPO)", + "abnormal inflammatory response", "continuant", - "abnormal respiratory system morphology", - "abnormal hematopoietic cell morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal blood cell morphology", - "abnormally decreased number of myeloid cell", - "increased biological_process", - "abnormal leukocyte morphology", - "abnormal pleura morphology", + "trunk region element", + "defense response", + "occurrent", + "cell", "abnormal biological_process in independent continuant", - "increased qualitatively inflammatory response", - "abnormal response to stimulus", - "Abnormal immune system morphology", - "increased qualitatively biological_process", - "Abnormal musculoskeletal physiology", - "Unusual infection", - "Pneumothorax", - "abnormal lung morphology", - "Abnormal leukocyte morphology", - "Abnormality of the respiratory system", - "abnormal platelet morphology", - "Recurrent lower respiratory tract infections", - "Abnormal respiratory system morphology", + "bone element", + "body proper", "changed biological_process rate", - "abnormal anatomical entity morphology", + "increased qualitatively biological_process", + "All (HPO)", + "non-connected functional system", + "Increased inflammatory response (HPO)", + "increased biological_process in independent continuant", + "organism", + "Abnormality of the respiratory system (HPO)", + "increased qualitatively inflammatory response", + "musculoskeletal system", + "Abnormal leukocyte morphology (HPO)", + "increased qualitatively inflammatory response in independent continuant", + "Phenotypic abnormality (HPO)", "abnormal respiratory system", - "Abnormal pleura morphology", + "increased inflammatory response in independent continuant", + "phenotype by ontology source", + "abnormal response to stimulus", + "Neoplasm by anatomical site (HPO)", + "anatomical entity", + "abnormal immune system", + "root", + "changed biological_process rate in independent continuant", + "abnormality of anatomical entity physiology", + "increased biological_process", + "Pneumothorax (HPO)", + "Osteomyelitis (HPO)", + "material entity", + "material anatomical entity", + "skin of body", + "increased inflammatory response in bone element", + "abnormal anatomical entity", + "Abnormality of the skeletal system (HPO)", + "independent continuant", + "multicellular anatomical structure", + "phenotype", + "Abnormal lung morphology (HPO)", + "Abnormality of the immune system (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "biological_process", + "anatomical wall", + "abnormal anatomical entity morphology in the independent continuant", + ], + "has_phenotype_count": 5, + "highlight": None, + "score": None, + }, + { + "id": "Reactome:R-DDI-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", + "full_name": None, + "deprecated": None, + "description": None, + "xref": [], + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:44689", + "in_taxon_label": None, + "symbol": None, + "synonym": [], + "uri": None, + "namespace": "Reactome", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": None, + "score": None, + }, + { + "id": "Reactome:R-GGA-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", + "full_name": None, + "deprecated": None, + "description": None, + "xref": [], + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:9031", + "in_taxon_label": None, + "symbol": None, + "synonym": [], + "uri": None, + "namespace": "Reactome", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": None, + "score": None, + }, + { + "id": "Reactome:R-SSC-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", + "full_name": None, + "deprecated": None, + "description": None, + "xref": [], + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:9823", + "in_taxon_label": None, + "symbol": None, + "synonym": [], + "uri": None, + "namespace": "Reactome", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "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": [], + "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", ], - "has_phenotype_count": 5, + "uri": None, + "namespace": "MONDO", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, "highlight": None, "score": None, }, @@ -2746,20 +3944,20 @@ def search(): "score": None, }, { - "id": "MONDO:0060779", - "category": "biolink:Disease", - "name": "acquired Fanconi syndrome", + "id": "Reactome:R-CEL-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", "full_name": None, "deprecated": None, - "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "description": None, "xref": [], - "provided_by": "phenio_nodes", - "in_taxon": None, + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:6239", "in_taxon_label": None, "symbol": None, - "synonym": ["acquired Fanconi syndrome"], + "synonym": [], "uri": None, - "namespace": "MONDO", + "namespace": "Reactome", "has_phenotype": [], "has_phenotype_label": [], "has_phenotype_closure": [], @@ -2769,7 +3967,7 @@ def search(): "score": None, }, { - "id": "Reactome:R-BTA-6783310", + "id": "Reactome:R-MMU-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": None, @@ -2777,7 +3975,7 @@ def search(): "description": None, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9913", + "in_taxon": "NCBITaxon:10090", "in_taxon_label": None, "symbol": None, "synonym": [], @@ -2792,7 +3990,7 @@ def search(): "score": None, }, { - "id": "Reactome:R-CFA-6783310", + "id": "Reactome:R-RNO-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": None, @@ -2800,7 +3998,7 @@ def search(): "description": None, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9615", + "in_taxon": "NCBITaxon:10116", "in_taxon_label": None, "symbol": None, "synonym": [], @@ -2815,20 +4013,20 @@ def search(): "score": None, }, { - "id": "GO:0043240", - "category": "biolink:MacromolecularComplex", - "name": "Fanconi anaemia nuclear complex", + "id": "Reactome:R-BTA-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", "full_name": None, "deprecated": None, - "description": "A protein complex composed of the Fanconi anaemia (FA) proteins including A, C, E, G and F (FANCA-F). Functions in the activation of the downstream protein FANCD2 by monoubiquitylation, and is essential for protection against chromosome breakage.", + "description": None, "xref": [], - "provided_by": "phenio_nodes", - "in_taxon": None, + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:9913", "in_taxon_label": None, "symbol": None, - "synonym": ["FA complex", "FA core complex", "FA nuclear complex", "Fanconi anaemia complex"], + "synonym": [], "uri": None, - "namespace": "GO", + "namespace": "Reactome", "has_phenotype": [], "has_phenotype_label": [], "has_phenotype_closure": [], @@ -2837,6 +4035,867 @@ def search(): "highlight": None, "score": None, }, + { + "id": "MONDO:0013247", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 2", + "full_name": None, + "deprecated": None, + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": [], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome", + ], + "uri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0000117", + "HP:0002749", + "HP:0002148", + "HP:0000114", + "HP:0002757", + "HP:0002748", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", + "HP:0003076", + "HP:0003165", + "HP:0004322", + "HP:0002653", + "HP:0012213", + "HP:0000083", + "HP:0002150", + ], + "has_phenotype_label": [ + "Renal phosphate wasting (HPO)", + "Osteomalacia (HPO)", + "Hypophosphatemia (HPO)", + "Proximal tubulopathy (HPO)", + "Recurrent fractures (HPO)", + "Rickets (HPO)", + "Osteopenia (HPO)", + "Generalized aminoaciduria (HPO)", + "High serum calcitriol (HPO)", + "Proteinuria (HPO)", + "Glycosuria (HPO)", + "Elevated circulating parathyroid hormone level (HPO)", + "Short stature (HPO)", + "Bone pain (HPO)", + "Decreased glomerular filtration rate (HPO)", + "Renal insufficiency (HPO)", + "Hypercalciuria (HPO)", + ], + "has_phenotype_closure": [ + "UPHENO:0068102", + "UPHENO:0051712", + "UBERON:0001474", + "CHEBI:16646", + "HP:0000077", + "CHEBI:33250", + "HP:0001510", + "UPHENO:0082538", + "UPHENO:0081423", + "HP:0004360", + "GO:0040007", + "UPHENO:0015280", + "CHEBI:22984", + "HP:0011842", + "CHEBI:33304", + "HP:0000002", + "UPHENO:0075195", + "UPHENO:0068134", + "HP:0002909", + "UPHENO:0080351", + "UPHENO:0020584", + "CHEBI:24431", + "PR:000013429", + "UPHENO:0082534", + "UBERON:0000468", + "HP:0002157", + "HP:0012337", + "UPHENO:0077826", + "HP:0003076", + "UPHENO:0068068", + "HP:0000001", + "UPHENO:0051741", + "UPHENO:0000541", + "HP:0003165", + "CHEBI:33675", + "CHEBI:33241", + "UPHENO:0068144", + "HP:0012213", + "UPHENO:0051936", + "UBERON:0001969", + "HP:0002152", + "UPHENO:0069254", + "UBERON:0002193", + "CHEBI:36080", + "UPHENO:0046344", + "UPHENO:0051680", + "UPHENO:0068533", + "HP:0001948", + "UPHENO:0051648", + "UBERON:0001977", + "UPHENO:0051612", + "UPHENO:0051635", + "UBERON:0004120", + "UPHENO:0068054", + "CHEBI:18133", + "CHEBI:15693", + "UPHENO:0077817", + "CHEBI:35381", + "UPHENO:0046362", + "UPHENO:0052116", + "CHEBI:26082", + "UPHENO:0068442", + "UPHENO:0051640", + "UPHENO:0068058", + "HP:0011280", + "UPHENO:0080659", + "CHEBI:64709", + "GO:0006629", + "HP:0025142", + "CHEBI:33256", + "CHEBI:37622", + "UPHENO:0002442", + "HP:0000093", + "GO:0008152", + "UPHENO:0051801", + "UPHENO:0075696", + "CHEBI:16670", + "HP:0004364", + "CHEBI:15841", + "UPHENO:0068472", + "CHEBI:33839", + "CHEBI:33709", + "UPHENO:0068565", + "CHEBI:27136", + "UBERON:0015203", + "UPHENO:0051678", + "CHEBI:35341", + "CHEBI:16541", + "CHEBI:35788", + "GO:0071704", + "GO:0044238", + "GO:0044281", + "UPHENO:0049873", + "HP:0100529", + "CHEBI:33822", + "UBERON:0000178", + "CHEBI:17234", + "UPHENO:0076286", + "HP:0031415", + "HP:0100530", + "GO:0006775", + "UPHENO:0081547", + "HP:0032369", + "HP:0032245", + "UPHENO:0068384", + "UPHENO:0080643", + "UPHENO:0082539", + "CHEBI:33917", + "HP:0002795", + "HP:0004322", + "HP:0500165", + "HP:0012212", + "UBERON:0000064", + "HP:0020129", + "UPHENO:0081548", + "CHEBI:35352", + "UPHENO:0051864", + "UPHENO:0082536", + "CHEBI:33521", + "UPHENO:0002448", + "GO:0042359", + "HP:0003119", + "CHEBI:17823", + "GO:0055062", + "CHEBI:27300", + "UPHENO:0084654", + "CHEBI:47042", + "HP:0003077", + "GO:0048878", + "CHEBI:33595", + "UPHENO:0076293", + "UPHENO:0077825", + "UPHENO:0078628", + "UPHENO:0003116", + "UPHENO:0049723", + "UPHENO:0081440", + "HP:0000083", + "CHEBI:18059", + "UPHENO:0076287", + "UPHENO:0068064", + "UPHENO:0046281", + "CHEBI:33575", + "UPHENO:0068491", + "UPHENO:0078554", + "UPHENO:0068089", + "UPHENO:0068049", + "UPHENO:0001002", + "CHEBI:24833", + "CHEBI:32988", + "CHEBI:36962", + "CHEBI:25806", + "CHEBI:78616", + "CHEBI:50860", + "UPHENO:0077829", + "HP:0033354", + "HP:0002086", + "UPHENO:0082542", + "CHEBI:33694", + "HP:0001992", + "HP:0002150", + "UBERON:0000061", + "UPHENO:0076289", + "UPHENO:0068040", + "UPHENO:0079536", + "UBERON:0010000", + "CHEBI:33608", + "HP:0000119", + "CHEBI:36360", + "CHEBI:33582", + "HP:0100508", + "UPHENO:0081424", + "HP:0040156", + "GO:1901360", + "CHEBI:73558", + "UPHENO:0081546", + "CHEBI:37577", + "UPHENO:0068091", + "HP:0002748", + "UPHENO:0051630", + "UPHENO:0068495", + "UPHENO:0048707", + "CHEBI:35350", + "CHEBI:35605", + "HP:0100511", + "HP:0000924", + "HP:0033127", + "HP:0032943", + "HP:0031980", + "UPHENO:0068110", + "UBERON:0001434", + "HP:0002757", + "UBERON:0000479", + "CHEBI:33318", + "UPHENO:0051847", + "UBERON:0006314", + "UPHENO:0066943", + "UBERON:0000916", + "CHEBI:36586", + "HP:0012591", + "UBERON:0002100", + "UBERON:0002417", + "HP:0001507", + "HP:0001871", + "CHEBI:33832", + "UBERON:0000025", + "UPHENO:0081550", + "HP:0033331", + "HP:0003117", + "UBERON:0000463", + "UPHENO:0001003", + "CHEBI:33579", + "UBERON:0005177", + "UBERON:0009569", + "UBERON:0011676", + "UPHENO:0002411", + "CHEBI:24867", + "HP:0012211", + "HP:0012599", + "HP:0000114", + "HP:0002749", + "UBERON:0005173", + "UBERON:0000483", + "UBERON:0015204", + "UPHENO:0024906", + "UBERON:0015212", + "UBERON:0002113", + "UPHENO:0068477", + "UBERON:0013701", + "UBERON:0011143", + "UPHENO:0051804", + "CHEBI:36963", + "HP:0010935", + "UPHENO:0049587", + "HP:0012072", + "HP:0012415", + "UPHENO:0034217", + "CHEBI:33285", + "CHEBI:33674", + "PR:000000001", + "UBERON:0000179", + "UBERON:0034923", + "UBERON:0002390", + "UPHENO:0046286", + "HP:0032180", + "UBERON:0001231", + "UPHENO:0001001", + "UPHENO:0051937", + "UPHENO:0080352", + "UPHENO:0051186", + "CHEBI:36853", + "CHEBI:26079", + "UPHENO:0051686", + "UPHENO:0051960", + "UPHENO:0012541", + "UPHENO:0000543", + "PATO:0000001", + "UPHENO:0049874", + "HP:0000117", + "UPHENO:0052038", + "CHEBI:36587", + "CHEBI:36357", + "PR:000050567", + "HP:0002148", + "UPHENO:0068313", + "UBERON:0004819", + "CHEBI:33559", + "CHEBI:24870", + "CHEBI:36359", + "HP:0003111", + "GO:0006766", + "GO:0098771", + "UPHENO:0048763", + "UPHENO:0068251", + "UBERON:0005172", + "CHEBI:33302", + "CHEBI:33238", + "UPHENO:0051930", + "HP:0003355", + "UPHENO:0004459", + "BFO:0000015", + "UPHENO:0051709", + "HP:0000079", + "GO:0042592", + "UPHENO:0079534", + "BFO:0000003", + "UBERON:0000062", + "BFO:0000002", + "GO:0001503", + "UPHENO:0084653", + "HP:0004349", + "CHEBI:33695", + "UBERON:0002204", + "HP:0004348", + "UPHENO:0068971", + "UBERON:0003103", + "UPHENO:0082835", + "HP:0003330", + "UPHENO:0046284", + "HP:0003110", + "UPHENO:0002803", + "UPHENO:0082834", + "CHEBI:22313", + "CHEBI:51143", + "UPHENO:0034391", + "UPHENO:0077821", + "CHEBI:51958", + "UBERON:0000174", + "CHEBI:50047", + "UBERON:0004211", + "UPHENO:0068047", + "HP:0011277", + "UBERON:0000467", + "CHEBI:25367", + "UPHENO:0075902", + "UPHENO:0066739", + "UBERON:0004122", + "UBERON:0011216", + "UPHENO:0068174", + "UBERON:0000489", + "GO:0008202", + "UBERON:0001088", + "PR:000018263", + "UBERON:0004765", + "HP:0010876", + "UPHENO:0076703", + "UPHENO:0076285", + "UPHENO:0051668", + "UPHENO:0002832", + "UPHENO:0051628", + "UPHENO:0002964", + "BFO:0000004", + "UPHENO:0051900", + "UBERON:0007684", + "GO:0008150", + "UBERON:0001004", + "UBERON:0000475", + "UPHENO:0080658", + "UPHENO:0004536", + "UBERON:0001285", + "UPHENO:0082540", + "CHEBI:26020", + "BFO:0000040", + "HP:0001939", + "UPHENO:0082541", + "UPHENO:0001005", + "HP:0000118", + "UPHENO:0082875", + "UBERON:0003914", + "CHEBI:23367", + "HP:0002659", + "UPHENO:0048711", + "UPHENO:0002642", + "UBERON:0000949", + "UPHENO:0051670", + "UBERON:0013702", + "UPHENO:0068538", + "UPHENO:0075159", + "UPHENO:0076692", + "UPHENO:0077820", + "BFO:0000020", + "GO:1901615", + "UPHENO:0068104", + "HP:0011849", + "UPHENO:0078589", + "UPHENO:0080638", + "UPHENO:0002536", + "UPHENO:0051763", + "UBERON:0001062", + "UPHENO:0046348", + "HP:0000818", + "CHEBI:138675", + "BFO:0000001", + "CHEBI:24651", + "UPHENO:0051739", + "UPHENO:0081544", + "UBERON:0009773", + "HP:0012531", + "UPHENO:0034351", + "UPHENO:0068169", + "HP:0000938", + "UBERON:0004111", + "UPHENO:0034253", + "HP:0000124", + "UBERON:0001008", + "UPHENO:0046291", + "UBERON:8450002", + "CHEBI:33259", + "CHEBI:33635", + "UPHENO:0068247", + "GO:0032501", + "UPHENO:0066927", + "CHEBI:26191", + "UPHENO:0002332", + "CHEBI:72695", + "UPHENO:0081581", + "HP:0002653", + "UPHENO:0082943", + "UBERON:0000465", + "HP:0011843", + "UBERON:0006555", + ], + "has_phenotype_closure_label": [ + "abnormal urine calcium atom level", + "main group element atom", + "metal atom", + "s-block element atom", + "abnormal independent continuant calcium atom level", + "alkaline earth metal atom", + "increased level of calcium atom in independent continuant", + "Abnormality of urine calcium concentration (HPO)", + "Decreased glomerular filtration rate (HPO)", + "Pain (HPO)", + "abnormal calcium atom level", + "decreased height of the multicellular organism", + "delayed biological_process", + "abnormal size of anatomical entity", + "decreased size of the multicellular organism", + "delayed growth", + "abnormal blood protein polypeptide chain level", + "biomacromolecule", + "Alkalemia (HPO)", + "protein", + "Acute phase response (HPO)", + "amino acid chain", + "increased level of chemical entity in blood plasma", + "increased level of nitrogen molecular entity in blood", + "Azotemia (HPO)", + "abnormal blood serum chemical entity level", + "parathyroid hormone", + "abnormal protein level", + "calcium atom", + "Elevated circulating parathyroid hormone level (HPO)", + "abnormal role blood serum level", + "abnormal acid bodily fluid level", + "Abnormal homeostasis (HPO)", + "abnormal blood nitrogen molecular entity level", + "Alkalosis (HPO)", + "glucose", + "aldohexose", + "abnormal independent continuant glucose level", + "monosaccharide", + "increased level of glucose in independent continuant", + "increased level of calcium atom in urine", + "carbohydrates and carbohydrate derivatives", + "abnormal urine glucose level", + "increased level of monosaccharide in urine", + "Abnormal circulating protein concentration (HPO)", + "increased level of monosaccharide in independent continuant", + "Abnormal urine protein level (HPO)", + "amide", + "peptide", + "carboxamide", + "protein polypeptide chain", + "abnormal independent continuant parathyroid hormone level", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in independent continuant", + "increased blood serum base level", + "increased level of parathyroid hormone in blood", + "Abnormal blood gas level (HPO)", + "Abnormal metabolism (HPO)", + "cyclic compound", + "abnormal role blood level", + "abnormal vitamin D level", + "abnormal hormone blood level", + "abnormal lipid metabolic process", + "increased independent continuant hormone level", + "hexose", + "increased level of lipid in independent continuant", + "polyol", + "endocrine system", + "calcitriol", + "seco-steroid", + "Abnormal circulating hormone concentration (HPO)", + "organic cyclic compound", + "glandular system", + "increased level of protein in blood", + "Hyperlipidemia (HPO)", + "abnormal independent continuant lipid level", + "hydroxy steroid", + "Abnormality of the respiratory system (HPO)", + "hydroxy seco-steroid", + "abnormal hormone independent continuant level", + "increased level of protein", + "triol", + "Abnormality of the endocrine system (HPO)", + "vitamin D metabolic process", + "aldose", + "polypeptide", + "hydroxycalciol", + "fat-soluble vitamin metabolic process", + "atom", + "organic cyclic compound metabolic process", + "lipid metabolic process", + "vitamin metabolic process", + "abnormal blood gas molecular entity level", + "information biomacromolecule", + "increased bodily fluid role level", + "abnormal metabolite independent continuant level", + "non-connected functional system", + "increased blood role level", + "increased level of vitamin D", + "abnormal respiratory system", + "abnormal vitamin metabolic process", + "organic substance metabolic process", + "abnormal role bodily fluid level", + "abnormal independent continuant carboxylic acid level", + "vitamin D", + "abnormal independent continuant nitrogen molecular entity level", + "hydrogen molecular entity", + "growth", + "hydroxides", + "Growth delay (HPO)", + "carbon group molecular entity", + "organic molecule", + "primary amide", + "Abnormal urine metabolite level (HPO)", + "carbon oxoacid", + "organooxygen compound", + "heteroorganic entity", + "Constitutional symptom (HPO)", + "organonitrogen compound", + "Organic aciduria (HPO)", + "increased level of organic molecular entity in independent continuant", + "increased level of chemical entity in urine", + "mesoderm-derived structure", + "increased level of carboxylic acid in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "nitrogen molecular entity", + "organochalcogen compound", + "abnormality of respiratory system physiology", + "oxygen molecular entity", + "increased level of glucose in urine", + "Abnormal urine phosphate concentration (HPO)", + "increased level of organic acid in independent continuant", + "increased level of amino acid in urine", + "abnormal acid independent continuant level", + "abnormal blood lipid level", + "oxoacid", + "Hyperproteinemia (HPO)", + "abnormal role independent continuant level", + "bone element", + "abnormal urine amino acid level", + "increased level of organic acid in urine", + "Recurrent fractures (HPO)", + "compound organ", + "increased bodily fluid base level", + "carbohydrate", + "abnormal endocrine system", + "homeostatic process", + "abnormal role urine level", + "renal tubule", + "uriniferous tubule", + "Abnormality of the kidney (HPO)", + "organism subdivision", + "Abnormal glomerular filtration rate (HPO)", + "abnormality of kidney physiology", + "increased level of nitrogen molecular entity in independent continuant", + "Abnormal circulating metabolite concentration (HPO)", + "organic molecular entity", + "nephron", + "Proximal tubulopathy (HPO)", + "Decreased anatomical entity mass density", + "abdomen element", + "nephron tubule", + "anatomical conduit", + "Abnormality of vitamin D metabolism (HPO)", + "chalcogen molecular entity", + "cavitated compound organ", + "gas molecular entity", + "abnormal kidney", + "Short stature (HPO)", + "phosphorus oxoacid derivative", + "epithelium", + "Rickets (HPO)", + "main body axis", + "subdivision of organism along main body axis", + "kidney", + "increased independent continuant base level", + "excretory tube", + "upper urinary tract", + "epithelial tube", + "haemolymphatic fluid", + "hematopoietic system", + "hemolymphoid system", + "Generalized aminoaciduria (HPO)", + "Abnormal urine pH (HPO)", + "organic hydroxy compound metabolic process", + "abnormal blood chemical entity level", + "decreased height of the anatomical entity", + "organic oxo compound", + "Abnormality of blood and blood-forming tissues (HPO)", + "D3 vitamins", + "ion", + "abnormal independent continuant protein level", + "subdivision of trunk", + "elemental molecular entity", + "material entity", + "Abnormal blood phosphate concentration (HPO)", + "inorganic ion homeostasis", + "increased blood serum role level", + "abnormal blood phosphate level", + "increased independent continuant acid level", + "kidney epithelium", + "abnormally decreased functionality of the anatomical entity", + "Abnormal blood ion concentration (HPO)", + "nephron epithelium", + "abnormal independent continuant monoatomic ion level", + "abnormal metabolic process", + "abdomen", + "abnormal phosphate ion homeostasis", + "p-block molecular entity", + "abnormal urine phosphate level", + "abnormal hematopoietic system", + "molecule", + "increased level of lipid", + "urine", + "organism substance", + "increased level of carboxylic acid in urine", + "abnormality of multicellular organism height", + "increased level of protein polypeptide chain in urine", + "increased level of calcitriol in blood", + "anatomical system", + "abnormal independent continuant chemical entity level", + "abnormal blood monoatomic ion level", + "phosphate ion homeostasis", + "decreased level of chemical entity in independent continuant", + "anatomical entity", + "monoatomic ion", + "High serum calcitriol (HPO)", + "increased level of chemical entity", + "increased level of amino acid in independent continuant", + "Abnormal renal physiology (HPO)", + "increased independent continuant role level", + "monoatomic entity", + "Hypercalciuria (HPO)", + "Abnormal respiratory system physiology (HPO)", + "Abnormality of vitamin metabolism (HPO)", + "blood", + "organ system subdivision", + "decreased size of the anatomical entity", + "Abnormal urine carboxylic acid level (HPO)", + "Hypophosphatemia (HPO)", + "musculoskeletal system", + "Osteopenia (HPO)", + "multicellular organismal process", + "increased level of parathyroid hormone in independent continuant", + "Abnormal urinary electrolyte concentration (HPO)", + "pnictogen molecular entity", + "Bone pain (HPO)", + "skeletal element", + "organ", + "abnormal anatomical entity", + "blood plasma", + "chemical homeostasis", + "Abnormality of the skeletal system (HPO)", + "Osteomalacia (HPO)", + "Abnormal skeletal morphology (HPO)", + "abnormally decreased functionality of the nephron tubule", + "abnormal blood oxygen molecular entity level", + "Reduced bone mineral density (HPO)", + "abnormal renal system", + "phenotype", + "abnormal independent continuant amino acid level", + "Elevated urinary carboxylic acid (HPO)", + "Abnormal blood oxygen level (HPO)", + "occurrent", + "abnormal skeletal system morphology", + "abnormal upper urinary tract", + "specifically dependent continuant", + "blood serum", + "organic polycyclic compound", + "abnormal bone element mass density", + "primary metabolic process", + "abnormal anatomical entity morphology", + "abnormal biological_process", + "ossification", + "anatomical entity dysfunction in independent continuant", + "respiratory system", + "Abnormality of urine homeostasis (HPO)", + "Abnormality of bone mineral density (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "increased level of chemical entity in blood serum", + "abnormal independent continuant carbohydrate level", + "amino acid", + "abnormality of anatomical entity physiology", + "steroid metabolic process", + "Abnormality of metabolism/homeostasis (HPO)", + "trunk region element", + "decreased level of chemical entity", + "decreased level of chemical entity in blood", + "Abnormal bone ossification (HPO)", + "multicellular organism", + "Aminoaciduria (HPO)", + "abdominal segment of trunk", + "abnormal independent continuant oxygen molecular entity level", + "oxoacid derivative", + "Abnormality of the genitourinary system (HPO)", + "protein-containing material entity", + "abnormal independent continuant phosphate level", + "Growth abnormality (HPO)", + "abnormality of musculoskeletal system physiology", + "Abnormality of the urinary system (HPO)", + "increased level of protein in independent continuant", + "Glycosuria (HPO)", + "tube", + "abnormal phosphate level", + "Abnormality of body height (HPO)", + "organic hydroxy compound", + "All (HPO)", + "Phenotypic abnormality (HPO)", + "s-block molecular entity", + "genitourinary system", + "abnormality of anatomical entity height", + "excretory system", + "biological_process", + "continuant", + "Abnormality of the musculoskeletal system (HPO)", + "abnormal genitourinary system", + "main group molecular entity", + "polyatomic entity", + "Abnormal circulating lipid concentration (HPO)", + "Abnormality of the upper urinary tract (HPO)", + "material anatomical entity", + "Increased susceptibility to fractures (HPO)", + "abnormal vitamin D metabolic process", + "entity", + "abnormal lipid level", + "body proper", + "abnormal anatomical entity mass density", + "macromolecule", + "Abnormality of the urinary system physiology (HPO)", + "Renal tubular dysfunction (HPO)", + "phosphorus molecular entity", + "abnormal growth", + "increased level of lipid in blood", + "Abnormality of musculoskeletal physiology (HPO)", + "excreta", + "abnormal multicellular organism chemical entity level", + "increased level of chemical entity in independent continuant", + "skeletal system", + "carbonyl compound", + "multicellular anatomical structure", + "trunk", + "abnormal amino acid level", + "Abnormal circulating nitrogen compound concentration (HPO)", + "Proteinuria (HPO)", + "carboxylic acid", + "phosphoric acid derivative", + "increased level of chemical entity in bodily fluid", + "phosphorus oxoacids and derivatives", + "bodily fluid", + "Abnormal bone structure (HPO)", + "increased level of parathyroid hormone in blood serum", + "abnormal phenotype by ontology source", + "quality", + "process", + "polycyclic compound", + "abnormal urine chemical entity level", + "abnormal blood parathyroid hormone level", + "Phenotypic abnormality", + "metabolic process", + "decreased level of phosphate in blood", + "organic amino compound", + "lateral structure", + "increased level of chemical entity in blood", + "abnormal multicellular organism morphology", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "phosphate", + "tissue", + "abnormal chemical entity level", + "disconnected anatomical group", + "molecular entity", + "abnormal blood plasma chemical entity level", + "Decreased bone element mass density", + "abnormality of renal system physiology", + "Renal phosphate wasting (HPO)", + "abdominal segment element", + "increased level of calcitriol in independent continuant", + "abnormal independent continuant gas molecular entity level", + "chemical entity", + "organ part", + "organic acid", + "heteroatomic molecular entity", + "anatomical structure", + "Renal insufficiency (HPO)", + "independent continuant", + "abnormal skeletal system", + "abnormal size of multicellular organism", + "small molecule metabolic process", + "renal system", + "steroid", + "phenotype by ontology source", + "Abnormality of acid-base homeostasis (HPO)", + "Aciduria (HPO)", + "lipid", + "decreased level of phosphate in independent continuant", + ], + "has_phenotype_count": 17, + "highlight": None, + "score": None, + }, ], "facet_fields": [], "facet_queries": [], diff --git a/backend/tests/fixtures/search_response.py b/backend/tests/fixtures/search_response.py index afbd49ce7..1be1495d1 100644 --- a/backend/tests/fixtures/search_response.py +++ b/backend/tests/fixtures/search_response.py @@ -5,7 +5,7 @@ def search_response(): return { "responseHeader": { - "QTime": 0, + "QTime": 1, "params": { "mm": "100%", "q": "fanconi", @@ -27,10 +27,10 @@ def search_response(): { "id": "HP:0001994", "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", + "name": "Renal Fanconi syndrome (HPO)", "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", - "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], + "synonym": ["'de toni-fanconi-debre' syndrome", "Renal tubular fanconi syndrome"], "namespace": "HP", "has_phenotype_count": 0, }, @@ -63,7 +63,6 @@ def search_response(): "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0005344", "HP:0002023", "HP:0001824", @@ -77,18 +76,19 @@ def search_response(): "HP:0001882", "HP:0002863", "HP:0002119", - "HP:0001510", + "HP:0001562", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006824", "HP:0006265", @@ -160,2041 +160,3113 @@ def search_response(): "HP:0001000", ], "has_phenotype_label": [ - "Upslanted palpebral fissure", - "Absent testis", - "Abnormal pinna morphology", - "Tracheoesophageal fistula", - "Astigmatism", - "Hydrocephalus", - "Intellectual disability", - "Abnormal preputium morphology", - "Arteriovenous malformation", - "Abnormal morphology of ulna", - "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", - "Abnormal carotid artery morphology", - "Anal atresia", - "Weight loss", - "Cataract", - "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", - "Microcephaly", - "Leukopenia", - "Myelodysplasia", - "Ventriculomegaly", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the hypothalamus-pituitary axis", - "Hypertelorism", - "Azoospermia", - "Oligohydramnios", - "Duodenal stenosis", - "Clubbing of toes", - "Abnormal localization of kidney", - "Decreased fertility in males", - "Aplasia/Hypoplasia of the uvula", - "Renal hypoplasia/aplasia", - "Multiple cafe-au-lait spots", - "Cranial nerve paralysis", - "Aplasia/Hypoplasia of fingers", - "Finger syndactyly", - "Reduced bone mineral density", - "Clinodactyly of the 5th finger", - "Hypoplasia of the ulna", - "Hip dislocation", - "Abnormality of femur morphology", - "Spina bifida", - "Aganglionic megacolon", - "Meckel diverticulum", - "Frontal bossing", - "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", - "Umbilical hernia", - "Intrauterine growth retardation", - "Hyperreflexia", - "Triphalangeal thumb", - "Bicornuate uterus", - "Nystagmus", - "Microphthalmia", - "Proptosis", - "Visual impairment", - "Abnormality of vision", - "Abnormal eyelid morphology", - "Strabismus", - "Abnormality of the eye", - "Hearing impairment", - "Hearing abnormality", - "Micrognathia", - "Sloping forehead", - "Facial asymmetry", - "Epicanthus", - "Dolichocephaly", - "High palate", - "Cleft palate", - "Hypogonadism", - "Abnormality of the uterus", - "Renal insufficiency", - "Hydroureter", - "Abnormal testis morphology", - "Cryptorchidism", - "Recurrent urinary tract infections", - "Short palpebral fissure", - "Abnormal renal morphology", - "Neoplasm", - "Abnormal cardiac septum morphology", - "Global developmental delay", - "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", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Abnormal thumb morphology", - "Hypopigmented skin patches", - "Abnormality of skin pigmentation", + "Upslanted palpebral fissure (HPO)", + "Absent testis (HPO)", + "Abnormal pinna morphology (HPO)", + "Tracheoesophageal fistula (HPO)", + "Astigmatism (HPO)", + "Hydrocephalus (HPO)", + "Intellectual disability (HPO)", + "Abnormal preputium morphology (HPO)", + "Arteriovenous malformation (HPO)", + "Abnormal morphology of ulna (HPO)", + "Abnormal nervous system morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Anal atresia (HPO)", + "Weight loss (HPO)", + "Cataract (HPO)", + "Ptosis (HPO)", + "Choanal atresia (HPO)", + "Hypospadias (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Scoliosis (HPO)", + "Microcephaly (HPO)", + "Leukopenia (HPO)", + "Myelodysplasia (HPO)", + "Ventriculomegaly (HPO)", + "Oligohydramnios (HPO)", + "Abnormality of the liver (HPO)", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Hypertelorism (HPO)", + "Azoospermia (HPO)", + "Growth delay (HPO)", + "Duodenal stenosis (HPO)", + "Clubbing of toes (HPO)", + "Abnormal localization of kidney (HPO)", + "Decreased fertility in males (HPO)", + "Aplasia/Hypoplasia of the uvula (HPO)", + "Renal hypoplasia/aplasia (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "Multiple cafe-au-lait spots (HPO)", + "Cranial nerve paralysis (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Finger syndactyly (HPO)", + "Reduced bone mineral density (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "Hypoplasia of the ulna (HPO)", + "Hip dislocation (HPO)", + "Abnormality of femur morphology (HPO)", + "Spina bifida (HPO)", + "Aganglionic megacolon (HPO)", + "Meckel diverticulum (HPO)", + "Frontal bossing (HPO)", + "Toe syndactyly (HPO)", + "Pes planus (HPO)", + "Abnormal foot morphology (HPO)", + "Abnormal aortic morphology (HPO)", + "Abnormal aortic valve morphology (HPO)", + "Patent ductus arteriosus (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "Tetralogy of Fallot (HPO)", + "Atrial septal defect (HPO)", + "Umbilical hernia (HPO)", + "Intrauterine growth retardation (HPO)", + "Hyperreflexia (HPO)", + "Triphalangeal thumb (HPO)", + "Bicornuate uterus (HPO)", + "Nystagmus (HPO)", + "Microphthalmia (HPO)", + "Proptosis (HPO)", + "Visual impairment (HPO)", + "Abnormality of vision (HPO)", + "Abnormal eyelid morphology (HPO)", + "Strabismus (HPO)", + "Abnormality of the eye (HPO)", + "Hearing impairment (HPO)", + "Hearing abnormality (HPO)", + "Micrognathia (HPO)", + "Sloping forehead (HPO)", + "Facial asymmetry (HPO)", + "Epicanthus (HPO)", + "Dolichocephaly (HPO)", + "High palate (HPO)", + "Cleft palate (HPO)", + "Hypogonadism (HPO)", + "Abnormality of the uterus (HPO)", + "Renal insufficiency (HPO)", + "Hydroureter (HPO)", + "Abnormal testis morphology (HPO)", + "Cryptorchidism (HPO)", + "Recurrent urinary tract infections (HPO)", + "Short palpebral fissure (HPO)", + "Abnormal renal morphology (HPO)", + "Neoplasm (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "Global developmental delay (HPO)", + "Abnormality of the urinary system (HPO)", + "Irregular hyperpigmentation (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "Short stature (HPO)", + "Abnormality of chromosome stability (HPO)", + "Abnormality of the upper limb (HPO)", + "Anemia (HPO)", + "Thrombocytopenia (HPO)", + "Abnormality of blood and blood-forming tissues (HPO)", + "Abnormal thumb morphology (HPO)", + "Hypopigmented skin patches (HPO)", + "Abnormality of skin pigmentation (HPO)", ], "has_phenotype_count": 106, "has_phenotype_closure": [ - "UPHENO:0042775", - "UPHENO:0077885", - "HP:0001053", "UPHENO:0077872", - "UPHENO:0077892", - "UPHENO:0086005", - "UPHENO:0086049", - "UPHENO:0085189", - "UPHENO:0084987", - "UPHENO:0086173", - "UPHENO:0085070", - "HP:0001939", - "HP:0003220", - "UPHENO:0080351", - "UPHENO:0081424", - "UPHENO:0085068", - "UPHENO:0085118", - "HP:0001877", + "HP:0001053", + "HP:0001872", + "HP:0011873", + "CL:0000233", + "CL:0000225", + "HP:0011017", + "GO:0005623", + "GO:0048871", + "GO:0048869", + "HP:0012130", "HP:0025461", - "HP:0005522", - "UPHENO:0088162", "HP:0020047", - "UPHENO:0087510", - "HP:0012745", + "GO:0030099", + "GO:0034101", + "GO:0048468", + "HP:0010972", + "HP:0005522", + "HP:0002818", + "UPHENO:0080187", + "HP:0001263", "UPHENO:0046753", - "HP:0010978", + "UPHENO:0075198", "HP:0032101", "UPHENO:0053580", - "HP:0025633", - "UPHENO:0002806", - "UPHENO:0002411", - "HP:0012211", - "UPHENO:0086128", - "HP:0008373", + "UPHENO:0081755", + "UBERON:0036295", + "UBERON:0000056", + "HP:0000072", + "UPHENO:0076780", + "HP:0000135", + "UBERON:0003216", "UPHENO:0033635", "HP:0000175", - "HP:5201015", - "HP:0000202", - "HP:0000218", - "UPHENO:0034110", - "UPHENO:0001208", - "HP:0000268", + "UPHENO:0063513", "UPHENO:0075148", - "UPHENO:0087058", + "UBERON:0013766", + "UBERON:0012180", "HP:0000286", - "UPHENO:0087928", - "HP:0000069", - "UPHENO:0002442", - "UPHENO:0087307", - "UPHENO:0084729", + "UBERON:1000021", + "UPHENO:0020809", + "UPHENO:0075159", "UPHENO:0084734", + "HP:0001999", + "UPHENO:0076704", "UPHENO:0041151", - "UPHENO:0041083", - "HP:0009118", - "HP:0011821", - "HP:0034261", - "HP:0002692", - "HP:0030791", - "HP:0009122", + "UPHENO:0080087", "UPHENO:0081141", - "UPHENO:0066972", + "UPHENO:0081314", + "UBERON:0001708", + "UPHENO:0019661", + "UBERON:0001710", "UPHENO:0083646", - "UPHENO:0081788", - "UPHENO:0088116", - "HP:0000028", + "UPHENO:0081786", + "HP:0009116", + "HP:0000364", + "GO:0050954", + "UPHENO:0052970", "UPHENO:0052231", - "UPHENO:0050625", "UPHENO:0005518", - "HP:0000365", - "UPHENO:0052970", - "HP:0000549", "HP:0000486", + "UPHENO:0063527", "UPHENO:0050236", - "HP:0000504", + "UPHENO:0052164", + "GO:0007601", + "GO:0050953", "HP:0000520", - "HP:0100887", - "UPHENO:0075219", - "UPHENO:0002240", - "HP:0007670", - "UPHENO:0078736", - "HP:0040194", - "UPHENO:0080602", - "HP:0012547", + "HP:0000568", + "NBO:0000411", + "UPHENO:0080369", + "NBO:0000444", "HP:0000496", - "HP:0011389", + "UPHENO:0080601", + "NBO:0000417", + "HP:0000639", + "UPHENO:0079839", "HP:0001751", - "UPHENO:0079837", - "HP:0006501", - "UPHENO:0041033", + "UPHENO:0078736", + "HP:0010460", + "UPHENO:0003053", + "UBERON:0003134", + "UBERON:0000995", + "UBERON:0013515", "UPHENO:0005170", - "HP:0000130", - "UPHENO:0076748", + "UPHENO:0020949", "UPHENO:0041664", - "HP:0000813", "UPHENO:0041395", "HP:0000008", - "UPHENO:0076724", - "HP:0001199", - "HP:0009602", - "UPHENO:0087806", - "HP:0000708", - "UPHENO:0050613", - "UPHENO:0055092", - "HP:0100022", + "CL:0000457", + "HP:0000130", + "UPHENO:0076766", + "UBERON:0003975", + "HP:0031105", + "UBERON:0005897", + "UPHENO:0081423", + "UPHENO:0021800", + "UBERON:0001463", + "UBERON:0015024", + "HP:0005918", + "UBERON:0010688", + "HP:0001172", + "GO:0009605", "UPHENO:0079833", - "HP:0001347", - "UPHENO:0083263", - "UPHENO:0049586", "UPHENO:0049622", - "UPHENO:0005642", - "UPHENO:0077877", + "GO:0050882", + "GO:0060004", + "NBO:0000389", + "UPHENO:0050606", "UPHENO:0050034", - "HP:0002719", "UPHENO:0075684", + "HP:0001551", "HP:0004298", - "HP:0100790", + "UPHENO:0075843", "HP:0010866", - "UPHENO:0086122", - "UPHENO:0033616", - "HP:0003549", - "UPHENO:0076794", - "UPHENO:0053644", + "HP:0004299", + "UPHENO:0002712", + "UBERON:0001712", "HP:0001537", - "HP:0005120", - "UPHENO:0080187", - "HP:0002623", + "HP:0003549", + "UPHENO:0077874", + "UBERON:0017672", + "HP:0011994", + "HP:0001631", + "UPHENO:0015303", + "UPHENO:0019897", + "UBERON:0002085", + "UBERON:0002081", + "HP:0001641", "HP:0031654", - "UPHENO:0000996", - "UPHENO:0019888", + "HP:0003220", + "HP:0011563", "UPHENO:0084715", - "UPHENO:0033604", + "UPHENO:0041033", + "HP:0031826", + "UPHENO:0019476", + "HP:0011545", + "UPHENO:0019890", "HP:0001629", - "HP:0001707", - "HP:0001714", + "UPHENO:0076732", + "UPHENO:0081830", + "UPHENO:0000996", + "HP:0000028", "UPHENO:0084482", - "HP:0001637", - "UPHENO:0021800", + "HP:0031653", + "HP:0000268", + "UPHENO:0019405", + "HP:0010438", + "HP:0001636", + "UPHENO:0033604", + "UPHENO:0066927", + "UPHENO:0076781", + "UBERON:0005983", "HP:0001638", - "UPHENO:0077800", - "UPHENO:0042834", - "UPHENO:0087022", - "UPHENO:0020809", - "HP:0001639", - "UPHENO:0015290", + "UBERON:0018260", + "UBERON:0000383", + "UBERON:0002349", + "UBERON:0005985", + "UPHENO:0020587", "HP:0011603", - "UPHENO:0087018", - "HP:0001643", - "UPHENO:0087309", - "HP:0012130", - "UPHENO:0033603", - "HP:0001654", - "UPHENO:0087612", - "HP:0000347", - "UPHENO:0015317", - "UPHENO:0086858", - "UPHENO:0076810", - "UPHENO:0087070", + "UBERON:0018674", + "HP:0100887", + "UBERON:0002201", + "HP:0001627", + "UBERON:0004151", + "UBERON:0004145", + "UBERON:0015228", + "UPHENO:0076743", + "UPHENO:0021059", + "UBERON:0002084", + "UBERON:0005956", + "UBERON:0000948", + "UBERON:0035553", "UPHENO:0015319", - "UPHENO:0015327", + "UBERON:0005623", + "UBERON:0005337", "HP:0001679", - "UPHENO:0076809", - "HP:0030962", + 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"UPHENO:0076941", - "UPHENO:0002832", - "UPHENO:0041098", - "HP:0032251", - "HP:0010460", - "UPHENO:0080185", - "UPHENO:0035025", - "UPHENO:0076744", - "HP:0040069", - "UPHENO:0020068", - "HP:0001871", - "HP:0001903", - "UPHENO:0003116", - "UPHENO:0004459", - "UPHENO:0054957", - "HP:0001882", - "HP:0001392", - "HP:0004377", - "UPHENO:0076803", - "UPHENO:0031193", - "HP:0002863", - "UPHENO:0001440", - "UPHENO:0088132", - "HP:0000517", - "UPHENO:0001072", - "UPHENO:0000543", - "UPHENO:0003044", - "UPHENO:0084767", - "HP:0000818", - "HP:0002818", - "HP:0000277", - "HP:0002921", - "HP:0002813", - "UPHENO:0003405", - "HP:0012210", - "UPHENO:0033626", - "UPHENO:0021823", - "UPHENO:0005982", - "HP:0002012", - "UPHENO:0074584", - "HP:0000864", - "UPHENO:0004523", - "HP:0009115", - "UPHENO:0075995", - "UPHENO:0049367", - "UPHENO:0082835", - "UPHENO:0078347", - "UPHENO:0055730", - "UPHENO:0076723", - "HP:0002827", - "HP:0001562", - "HP:0011446", - "HP:0001197", - "HP:0025028", - "UPHENO:0075852", - "UPHENO:0076783", - "HP:0011004", - "HP:0002242", + "HP:0000324", + "UBERON:0001691", + "UBERON:0000473", + "UPHENO:0049970", + "UBERON:0000011", + "UPHENO:0020950", + "UPHENO:0076809", + "UBERON:0022303", + "UBERON:0011249", + "UBERON:0002390", + "UPHENO:0002678", + "UPHENO:0077854", + "UPHENO:0078215", + "UPHENO:0079876", + "HP:0004378", + "HP:0012718", + "HP:0011842", + "HP:0001639", "HP:0010461", - "UPHENO:0086621", - "UPHENO:0087427", - "UPHENO:0002808", - "UPHENO:0041821", - "UPHENO:0076957", - "HP:0011297", - "UPHENO:0087369", - "HP:0100760", - "HP:0000010", - "UPHENO:0084654", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0081575", + "HP:0100790", "HP:0045010", - "UPHENO:0076806", - "UPHENO:0086614", + "UBERON:0005156", + "HP:0000001", + "UPHENO:0019615", + "HP:0005927", + "UBERON:0005726", + "UBERON:0005423", + "UPHENO:0002599", + "UBERON:0001684", + "UBERON:0003126", + "HP:0025031", + "CL:0000015", + "UPHENO:0020169", + "UBERON:0000479", + "UPHENO:0000543", + "UBERON:0010323", + "UBERON:0002471", + "UPHENO:0076718", + "CL:0000081", + "UPHENO:0082129", + "UBERON:0001004", + "UPHENO:0081790", + "GO:0022414", + "UBERON:0000014", + "HP:0040068", + "GO:0032501", + "BFO:0000015", + "HP:0040019", + "UPHENO:0002903", + "UPHENO:0002332", + "UPHENO:0076727", + "UPHENO:0081566", + "UBERON:0015001", + "HP:0000027", + "UBERON:0002470", + "UPHENO:0049587", + "UPHENO:0050625", + "UPHENO:0004536", + "UBERON:0015410", + "UPHENO:0081581", + "UPHENO:0078730", + "UBERON:0008907", + "HP:0002119", + "UBERON:0001359", + "HP:0032076", + "UBERON:0007375", + "CL:0000000", + "UPHENO:0005597", + "UPHENO:0002378", + "UPHENO:0082875", + "UPHENO:0076752", + "UBERON:0001007", + "HP:0012745", + "UPHENO:0000541", + "UPHENO:0080351", + "UPHENO:0075220", + "UPHENO:0080585", + "GO:0048856", + "UPHENO:0003055", + "UBERON:0004766", + "HP:0000022", + "UBERON:0000990", "UPHENO:0050008", - "HP:0006496", - "UPHENO:0003070", - "HP:0001924", - "UPHENO:0086628", - "UPHENO:0020748", - "UPHENO:0086700", - "UPHENO:0066927", - "UPHENO:0078125", - "HP:0001217", - "UPHENO:0072195", - "HP:0002814", - "UPHENO:0088140", - "HP:0012373", - "HP:0100542", - "HP:0031816", - "UPHENO:0080601", - "UPHENO:0087501", - "UPHENO:0076800", - "HP:0008053", - "UPHENO:0002828", - "HP:0000951", - "HP:0009484", - "UPHENO:0081709", - "HP:0031704", - "UPHENO:0002839", - "HP:0010293", - "UPHENO:0081570", - "UPHENO:0088088", - "UPHENO:0002896", - "UPHENO:0075175", - "HP:0000174", + "UPHENO:0021284", + "HP:0011446", + "UBERON:0001968", + "UPHENO:0002642", + "HP:0010987", + "UBERON:0007196", + "UPHENO:0019886", + "HP:0025354", + "UPHENO:0015290", + "UBERON:0002082", + "UBERON:0001890", + "UPHENO:0081868", "UPHENO:0082682", - "HP:0001034", - "UPHENO:0054970", - "HP:0000002", - "UPHENO:0076740", - "HP:0000953", - "HP:0030311", + "UBERON:0006555", + "UPHENO:0020539", "BFO:0000001", - "UPHENO:0002635", - "UPHENO:0080662", - "HP:0011849", - "UPHENO:0080087", - "HP:0012733", - "HP:0011121", - "UPHENO:0074589", - "HP:0006824", - "HP:0005922", - "UPHENO:0050622", - "HP:0040068", - "UPHENO:0002708", - "HP:0001872", - "UPHENO:0084761", - "HP:0001010", - "HP:0031105", - "UPHENO:0087974", - "HP:0045060", - "HP:0005927", - "UPHENO:0072402", - "UPHENO:0019886", - "UPHENO:0084766", + "HP:0011314", + "UBERON:0001456", + "UPHENO:0080165", + "HP:0000598", + "CL:0000586", + "UPHENO:0012541", + "UBERON:0003133", + "UPHENO:0020651", + "UBERON:0005282", + "UBERON:0003037", + "UPHENO:0075945", + "UPHENO:0081584", + "PATO:0000001", + "HP:0200006", + "GO:0050879", + "UBERON:0000964", + "UBERON:0001819", + "UPHENO:0076703", + "HP:0001873", + "HP:0010468", + "HP:0000492", + "UBERON:0002384", + "HP:0002813", + "UBERON:0006311", + "UBERON:0001893", + "UPHENO:0033603", + "UPHENO:0075877", + "UBERON:0002099", + "UBERON:0005409", + "UPHENO:0006910", + "UBERON:0004571", + "UBERON:0000970", + "HP:0000174", + "NBO:0000388", + "UBERON:0002113", + "UBERON:5102544", + "UBERON:0001809", + "UBERON:0015021", + "HP:0008678", + "UPHENO:0081436", + "CL:0000300", + "UPHENO:0020542", + "HP:0000290", + "UPHENO:0081570", + "UBERON:0003920", + "UPHENO:0019472", "HP:0001155", - "HP:0025033", - "UPHENO:0078159", - "UPHENO:0076786", - "UPHENO:0078215", - "HP:0012638", - "HP:0001780", - "HP:0006101", - "UPHENO:0076735", - "UPHENO:0078081", - "HP:0001551", - "UPHENO:0086792", - "UPHENO:0078288", - "UPHENO:0080585", - "UPHENO:0078179", - "HP:0004348", + "UBERON:0002102", + "UPHENO:0005982", + "UPHENO:0005651", + "UPHENO:0005016", + "HP:0011961", + "HP:0000356", + "HP:0010293", + "HP:0002086", + "UPHENO:0078729", + "UPHENO:0001440", + "UBERON:0012360", + "UPHENO:0021561", + "UPHENO:0020853", + "UBERON:0002513", + "UBERON:0004572", + "UBERON:0000475", + "HP:0031704", + "UBERON:0004537", + "HP:0000271", + "UPHENO:0063595", + "UBERON:0000161", + "UBERON:0004716", + "UBERON:0000464", + "CL:0000019", + "UBERON:0001801", + "UPHENO:0001208", + "UBERON:0000020", + "UBERON:0003457", + "UBERON:0004288", + "HP:0000032", + "UPHENO:0084729", + "UBERON:0000955", + "HP:0000079", + "GO:0002262", + "RO:0002577", + "UPHENO:0021791", + "UBERON:5106048", + "UPHENO:0075696", + "UPHENO:0021038", + "UBERON:0000468", + "UBERON:0007832", + "HP:0010469", + "UBERON:0001766", + "UPHENO:0021746", + "UPHENO:0084448", + "UBERON:0002365", + "UPHENO:0050622", + "HP:0030311", + "HP:0012372", + "BFO:0000020", + "HP:0002650", + "UBERON:0004054", + "UBERON:0003697", + "HP:0030962", + "UBERON:0004905", + "UBERON:0000010", + "UBERON:0011676", + "GO:0050877", + "UPHENO:0004523", + "HP:0000035", + "UBERON:0010000", + "UPHENO:0041525", + "HP:0033353", + "HP:0032039", + "UBERON:0001460", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0001032", + "UBERON:0003498", + "HP:0001643", + "UBERON:0004086", + "UPHENO:0001003", + "UBERON:0000463", + "UBERON:5102389", + "UBERON:0010409", + "UBERON:0012358", + "UBERON:0001043", + "HP:0010978", + "UBERON:0004089", + "UBERON:0004111", + "UBERON:0004710", + "HP:0001924", + "UBERON:0003620", + "UBERON:0034921", + "UPHENO:0076692", + "UPHENO:0054957", + "UPHENO:0077885", + "UPHENO:0001005", + "HP:0004325", + "UPHENO:0042834", + "HP:0000481", + "UBERON:0016529", + "HP:0100691", + "UBERON:0010314", + "HP:0030791", + "CL:0000003", + "BFO:0000003", + "UBERON:0007811", + "UPHENO:0050620", + "UBERON:0004122", + "UPHENO:0002844", + "GO:0042592", + "UBERON:0001711", + "UBERON:0002387", + "HP:0012331", + "HP:0008050", + "UPHENO:0063599", + "UPHENO:0002536", + "HP:0000813", + "UPHENO:0080382", + "UBERON:0002417", + "HP:0002270", + "UPHENO:0076730", + "UBERON:0000047", + "UPHENO:0049985", + "UBERON:0015203", + "UPHENO:0041821", + "UPHENO:0002595", + "HP:0000153", + "UPHENO:0002433", + "UBERON:0004456", + "BFO:0000040", + "HP:0012639", + "HP:0012443", + "UBERON:0001530", + "HP:0000025", + "UBERON:0000467", + "UBERON:0000064", + "UBERON:0006800", + "CL:0002242", + "UBERON:0000160", + "UPHENO:0002719", + "UPHENO:0020998", + "UPHENO:0021447", + "UPHENO:0079828", + "UBERON:0035639", + "UBERON:5001463", + "UBERON:0000019", + "UPHENO:0015280", + "HP:0040069", + "UBERON:0005401", + "UBERON:0000179", + "HP:0030669", + "UBERON:0001449", + "HP:0001667", "HP:0004349", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0087203", - "UPHENO:0082834", - "HP:0004209", - "UPHENO:0084511", - "UPHENO:0086144", - "HP:0004097", - "HP:0009179", + "HP:0000508", + "HP:0000377", + "UPHENO:0068971", + "HP:0000234", + "UPHENO:0041146", + "HP:0000505", + "GO:0007276", + "UBERON:0000465", + "HP:0000582", + "UBERON:0013765", + "UPHENO:0049940", + "UBERON:0010230", ], "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation", - "Hypopigmented skin patches", - "decreased pigmentation in skin of body", - "Hypopigmentation of the skin", "decreased pigmentation in multicellular organism", - "abnormal blood cell morphology", - "abnormal platelet morphology", - "Thrombocytopenia", - "Abnormal platelet count", - "abnormal blood cell", + "decreased biological_process in skin of body", + "decreased pigmentation in skin of body", + "Thrombocytopenia (HPO)", + "anucleate cell", + "serotonin secreting cell", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "Abnormality of body height (HPO)", + "decreased size of the multicellular organism", "decreased height of the anatomical entity", - "Abnormality of body height", - "abnormal erythrocyte morphology", - "Abnormal myeloid cell morphology", - "abnormal hematopoietic cell morphology", - "Abnormal cell morphology", - "Sideroblastic anemia", - "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", - "decreased length of palpebral fissure", - "Recurrent urinary tract infections", - "Unusual infection", - "Abnormality of immune system physiology", - "abnormal ureter", - "Abnormal ureter morphology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", + "abnormality of multicellular organism height", + "Hypopigmentation of the skin (HPO)", + "Anemia (HPO)", + "oxygen accumulating cell", + "Abnormal cell morphology (HPO)", + "myeloid cell", + "blood cell", + "homeostatic process", + "cellular process", + "Abnormal erythroid lineage cell morphology (HPO)", + "erythrocyte differentiation", + "myeloid cell differentiation", + "cell differentiation", + "myeloid cell homeostasis", + "cellular developmental process", + "Abnormality of the radius (HPO)", + "Abnormal cellular physiology (HPO)", + "abnormal radius bone", + "radius bone", + "Global developmental delay (HPO)", + "Short palpebral fissure (HPO)", + "abnormal size of palpebral fissure", + "Abnormality of immune system physiology (HPO)", + "abnormality of immune system physiology", + "abnormally localised anatomical entity", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "renal pelvis/ureter", + "Abnormal ureter morphology (HPO)", + "abnormal ureter morphology", + "ureter", "abnormality of renal system physiology", - "Puberty and gonadal disorders", - "abnormally decreased functionality of the gonad", + "hard palate", + "abnormal incomplete closing of the secondary palate", + "Abnormal hard palate morphology (HPO)", "Orofacial cleft", - "High palate", - "increased height of anatomical entity in independent continuant", - "abnormality of anatomical entity height", - "Dolichocephaly", - "increased size of the head", - "abnormal size of head", - "abnormal skin of face morphology", + "increased height of the secondary palate", "abnormal skin of head morphology", + "increased length of the epicanthal fold", + "skin of head", + "epicanthal fold", + "abnormal skin of face morphology", + "upper eyelid", + "head or neck skin", + "Facial asymmetry (HPO)", + "abnormal face morphology", + "abnormal shape of forehead", + "sloped forehead", "abnormal forehead morphology", - "abnormally localised anatomical entity", - "Micrognathia", - "aplasia or hypoplasia of mandible", - "decreased size of the mandible", + "jaw skeleton", "aplasia or hypoplasia of skull", - "facial bone hypoplasia", - "Aplasia/Hypoplasia involving bones of the skull", "mandible hypoplasia", "anatomical entity hypoplasia in face", - "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "Facial asymmetry", - "abnormal sensory perception of sound", + "bone of lower jaw", + "Micrognathia (HPO)", + "Hypoplastic facial bones (HPO)", + "dentary", + "facial bone hypoplasia", + "decreased biological_process in independent continuant", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "Abnormal mandible morphology (HPO)", + "aplasia or hypoplasia of mandible", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal asymmetry of anatomical entity", "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", + "Hearing impairment (HPO)", + "Abnormality of vision (HPO)", + "visual perception", + "sensory perception", + "decreased qualitatively visual perception", + "Proptosis (HPO)", + "Microphthalmia (HPO)", "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "Cryptorchidism", - "Nystagmus", - "abnormality of ear physiology", - "Abnormal vestibular function", - "abnormal vestibulo-ocular reflex", + "Abnormality of globe size (HPO)", "abnormal internal ear", - "abnormal female reproductive system", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "Abnormal involuntary eye movements (HPO)", + "Abnormal vestibulo-ocular reflex (HPO)", + "Vestibular dysfunction (HPO)", + "Strabismus (HPO)", + "Functional abnormality of the inner ear (HPO)", + "internal ear", + "Abnormality of eye movement (HPO)", + "Abnormality of the inner ear (HPO)", + "abnormality of ear physiology", + "abnormality of internal ear physiology", + "abnormal eye movement", + "female reproductive system", + "female organism", "shape uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "Abnormality of the uterus", + "internal female genitalia", + "sensory perception of sound", + "female reproductive organ", + "uterus", + "skin of eyelid", + "bicornuate anatomical entity", + "Abnormal morphology of female internal genitalia (HPO)", + "bicornuate uterus", + "decreased qualitatively sensory perception of sound", + "subdivision of oviduct", "abnormal uterus", - "abnormal phalanx of manus morphology", - "Abnormal finger phalanx morphology", - "Abnormality of thumb phalanx", - "Triphalangeal thumb", - "increased reflex", - "Hyperreflexia", + "Abnormal uterus morphology (HPO)", + "manual digit 1 plus metapodial segment", + "skeleton of manual acropodium", + "abnormally decreased functionality of the gonad", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "Abnormal finger phalanx morphology (HPO)", + "manual digit 1 phalanx endochondral element", + "phalanx of manus", + "Abnormal thumb morphology (HPO)", + "body part movement", + "voluntary movement behavior", + "decreased qualitatively pigmentation in independent continuant", "abnormal behavior", + "Abnormality of movement (HPO)", + "Behavioral abnormality (HPO)", + "Hyperreflexia (HPO)", + "neuromuscular process", + "Visual impairment (HPO)", + "voluntary musculoskeletal movement", + "behavior process", + "reflex", + "abnormal response to external stimulus", "abnormal musculoskeletal movement", - "increased qualitatively response to stimulus", + "multicellular organismal movement", + "abnormal voluntary movement behavior", "decreased embryo development", - "abnormal embryo development", - "Intrauterine growth retardation", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal umbilicus morphology", - "Abnormality of connective tissue", - "shape forehead", - "herniated abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Intrauterine growth retardation (HPO)", + "connective tissue", + "abdominal viscera", + "biogenic amine secreting cell", + "changed embryo development rate", + "abdominal wall", + "abnormal incomplete closing of the abdominal wall", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal cardiac atrium morphology (HPO)", + "Abnormality of the ureter (HPO)", + "interatrial septum", + "Atrial septal defect (HPO)", + "Abnormal atrial septum morphology (HPO)", + "abnormal cardiac atrium morphology", "abnormal interatrial septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "Abnormal cardiac septum morphology", + "Abnormal heart valve physiology (HPO)", + "interventricular septum", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", + "hypertrophic heart right ventricle", + "Abnormal cardiac ventricle morphology (HPO)", + "Abnormality of the uterus (HPO)", + "Abnormal pulmonary valve physiology (HPO)", + "abnormal incomplete closing of the interventricular septum", + "Overriding aorta (HPO)", + "abnormal size of heart right ventricle", "abnormally increased volume of anatomical entity", - "Tetralogy of Fallot", - "abnormal heart right ventricle morphology", - "Ventricular hypertrophy", - "Right ventricular hypertrophy", + "Tetralogy of Fallot (HPO)", + "abnormal pulmonary valve morphology", + "abnormal cardiac ventricle morphology in the heart", + "cardiac septum", + "Pulmonic stenosis (HPO)", + "right cardiac chamber", + "decreased qualitatively biological_process in independent continuant", + "abnormal behavior process", + "constricted pulmonary valve", + "abnormal cardiac ventricle morphology in the independent continuant", "abnormal cardiac septum morphology", - "Overriding aorta", - "abnormal interventricular septum morphology", - "abnormally decreased functionality of the anatomical entity", + "anatomical entity dysfunction in independent continuant", + "myocardium", + "Abnormal myocardium morphology (HPO)", "abnormally decreased functionality of the myocardium", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", - "abnormal aortic valve morphology", - "abnormal anatomical entity morphology in the heart", - "abnormal outflow part of left ventricle morphology", - "abnormal eye movement", + "abnormally decreased functionality of the anatomical entity", + "Hypertrophic cardiomyopathy (HPO)", + "abnormal coronary vessel morphology", + "conceptus", + "abnormal systemic artery morphology", + "vasculature of organ", + "vasculature of trunk", + "heart blood vessel", + "abnormal artery morphology", + "thoracic segment blood vessel", "abnormal artery morphology in the independent continuant", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "Abnormal aortic morphology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "flat longitudinal arch of pes", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", - "Abnormal calvaria morphology", - "abnormal neurocranium morphology", - "Abnormal cerebral cortex morphology", - "abnormally protruding anatomical entity", - "Abnormal shape of the frontal region", - "flat anatomical entity", - "abnormal cerebral cortex morphology", + "Congenital malformation of the great arteries (HPO)", + "embryonic cardiovascular system", + "abnormal ductus arteriosus morphology", + "Unusual infection (HPO)", + "outflow tract", + "abnormal embryo development", + "abnormal abdominal wall", + "abnormal cardial valve morphology in the independent continuant", + "lower jaw region", + "abnormal uterus morphology", + "valve", + "aplasia or hypoplasia of radius bone", + "Abnormal aortic valve morphology (HPO)", + "semi-lunar valve", + "cardiac ventricle", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "outflow tract of ventricle", + "heart plus pericardium", + "outflow part of left ventricle", + "aortic system", + "abnormal aorta morphology", + "Abnormal aortic morphology (HPO)", + "thoracic cavity blood vessel", + "great vessel of heart", + "flattened anatomical entity", + "flat anatomical entity in independent continuant", + "Toe syndactyly (HPO)", + "abnormal facial skeleton morphology", + "Aplasia/Hypoplasia of the radius (HPO)", + "Frontal bossing (HPO)", + "central nervous system gray matter layer", + "dermal bone", + "pallium", + "facial skeleton", + "central nervous system cell part cluster", "abnormal shape of frontal cortex", + "frontal cortex", + "cortex of cerebral lobe", + "neurocranium", + "secretory cell", + "bone of craniocervical region", + "heart layer", + "intramembranous bone", + "Ventricular hypertrophy (HPO)", + "membrane bone", + "abnormal forehead", "abnormal frontal cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", + "cerebral hemisphere gray matter", + "forehead", + "abnormal tetrapod frontal bone morphology", + "Abnormal facial skeleton morphology (HPO)", + "abnormal cerebral cortex morphology", + "primary subdivision of cranial skeletal system", + "abnormal spatial pattern of anatomical entity", + "vault of skull", + "dermal skeleton", + "dermatocranium", + "cerebral hemisphere", + "Abnormality of calvarial morphology (HPO)", "abnormal vault of skull", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal size of heart right ventricle", - "Meckel diverticulum", + "abnormal ileum morphology", + "Abnormal ileum morphology (HPO)", + "ganglion of peripheral nervous system", + "decreased pigmentation in independent continuant", + "neocortex", + "parasympathetic ganglion", + "Bicornuate uterus (HPO)", + "autonomic nervous system", + "abnormal ganglion of peripheral nervous system", + "Abnormal platelet morphology (HPO)", + "Abnormality of enteric ganglion morphology (HPO)", "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal ganglion morphology", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Hernia", - "Vertebral arch anomaly", - "decreased biological_process in skin of body", + "platelet", + "enteric ganglion", + "Abnormal autonomic nervous system morphology (HPO)", + "Aganglionic megacolon (HPO)", + "decreased length of palpebral fissure", + "abnormal parasympathetic ganglion morphology", "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "abnormal vertebral column morphology", - "Spinal dysraphism", - "Abnormal vertebral morphology", - "Abnormal spinal cord morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "abnormal bony vertebral centrum morphology", - "abnormal opening of the anatomical entity", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "abnormal neural tube morphology", - "Neural tube defect", - "abnormal shape of forehead", + "abnormal ganglion", + "involuntary movement behavior", + "abnormal enteric nervous system morphology", + "dorsal region element", + "neural tube", + "presumptive structure", + "reflexive behavior", "abnormal tube formation", + "Abnormality of the spinal cord (HPO)", + "manual digit 1", + "neural tube closure", + "chordate embryonic development", + "spinal cord", + "Spinal dysraphism (HPO)", + "abnormal heart morphology", + "tube development", + "embryonic morphogenesis", + "tube morphogenesis", + "bony vertebral centrum", + "irregular bone", + "Increased head circumference (HPO)", + "future central nervous system", + "vertebral centrum element", + "arch of centrum of vertebra", + "vertebral element", + "abnormal neural tube morphology", + "Vertebral arch anomaly (HPO)", + "cerebral cortex", + "gray matter of forebrain", "abnormal incomplete closing of the arch of centrum of vertebra", - "abnormal size of palpebral fissure", + "neural tube formation", + "primary neural tube formation", + "abnormal development of anatomical entity", + "Neural tube defect (HPO)", + "embryonic structure", + "developing anatomical structure", + "decreased size of the mandible", + "Patent ductus arteriosus (HPO)", + "Abnormality of enteric nervous system morphology (HPO)", + "Abnormal form of the vertebral bodies (HPO)", + "abnormal vertebral column morphology", + "epithelium development", + "morphogenesis of an epithelium", + "epithelial tube morphogenesis", + "embryo development ending in birth or egg hatching", + "shape longitudinal arch of pes", + "embryo development", + "dorsum", + "Abnormal vertebral morphology (HPO)", + "abnormal vertebra morphology", + "anatomical structure development", + "anatomical structure morphogenesis", + "Spina bifida (HPO)", + "bone of hip region", + "Abnormal morphology of the great vessels (HPO)", + "hindlimb stylopod", "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormality of femur morphology", + "upper leg bone", + "abnormal voluntary musculoskeletal movement", + "Abnormality of femur morphology (HPO)", + "femur endochondral element", + "leg bone", "abnormal femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal synovial joint morphology", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "anatomical entity dislocation", - "Joint dislocation", - "Abnormal joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Lower extremity joint dislocation", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Aplasia/hypoplasia involving forearm bones", - "Sloping forehead", + "sensory perception of mechanical stimulus", + "hip", + "neurocranium bone", + "pelvic girdle bone/zone", + "vestibulo-ocular reflex", + "Abnormal hip joint morphology (HPO)", + "Abnormal joint morphology (HPO)", + "articulation", + "abnormal phalanx morphology", + "tetrapod frontal bone", + "limb joint", + "pelvic region element", + "excretory tube", + "hip joint", + "abnormal synovial joint", + "girdle bone/zone", + "abnormal hindlimb joint", + "Abdominal wall defect (HPO)", + "Right ventricular hypertrophy (HPO)", + "zone of bone organ", + "skeletal joint", + "girdle skeleton", + "Abnormality of pelvic girdle bone morphology (HPO)", + "Lower extremity joint dislocation (HPO)", + "Abnormal hip bone morphology (HPO)", + "appendage girdle region", + "neural tube development", + "articular system", "decreased size of the ulna", - "Forearm undergrowth", - "forelimb zeugopod bone hypoplasia", - "decreased size of the anatomical entity in the pectoral complex", + "anatomical entity hypoplasia", + "ulna hypoplasia", "decreased length of anatomical entity in independent continuant", - "Hypoplasia of the ulna", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Aplasia/Hypoplasia affecting the uvea", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", - "abnormal iris morphology", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal penis", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal limb morphology", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal voluntary movement behavior", - "Abnormal forearm bone morphology", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", - "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormal skeletal morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "Ventriculomegaly", - "sloped anatomical entity", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", - "abnormal bone of pectoral complex morphology", - "abnormal embryo morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal vascular system morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", - "Neurodevelopmental abnormality", - "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", - "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", - "abnormal central nervous system morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", + "decreased length of forelimb zeugopod bone", + "aplasia or hypoplasia of ulna", + "Aplasia/Hypoplasia of the ulna (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "Forearm undergrowth (HPO)", + "decreased size of the anatomical entity", + "abnormal myocardium morphology", + "Short long bone (HPO)", + "decreased length of long bone", + "bone element hypoplasia in independent continuant", + "Short forearm (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "musculoskeletal movement", + "digit 1 or 5", + "aorta", + "manual digit 5", + "manual digit 1 or 5", + "Abnormality of metabolism/homeostasis (HPO)", + "tube closure", + "digit 5 plus metapodial segment", + "Abnormal 5th finger morphology (HPO)", + "abnormal manual digit 5 morphology", + "Decreased bone element mass density", + "cardiac atrium", + "Reduced bone mineral density (HPO)", + "Abnormality of the abdominal wall (HPO)", + "ossification", + "Abnormality of bone mineral density (HPO)", + "Decreased anatomical entity mass density", + "Finger syndactyly (HPO)", + "abnormal anatomical entity morphology in the manus", + "abnormally fused digit and anatomical entity", + "abnormally fused manual digit and manual digit", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Aplasia/hypoplasia of the extremities (HPO)", + "Abnormality of the hand (HPO)", "abnormal manus", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormal cerebrospinal fluid morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", - "abnormal location of anatomical entity", - "abnormal anatomical entity", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "shape cornea", - "abnormal artery morphology", - "Abnormal forearm morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Abnormality of limb bone morphology", - "Abnormality of limbs", + "tissue morphogenesis", + "abnormal manus morphology", + "manus", + "segment of manus", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Abnormality of finger (HPO)", + "peripheral nervous system", + "paralysed cranial nerve", + "abnormal biological_process", + "Cranial nerve paralysis (HPO)", + "Abnormal myeloid cell morphology (HPO)", + "abnormal vasculature", + "nerve of head region", + "Abnormal bone structure (HPO)", + "abnormality of internal male genitalia physiology", "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "Microphthalmia", - "abnormal external ear morphology", - "abnormal vein morphology", - "Decreased body weight", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "Abnormal small intestine morphology", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", - "abnormal cornea, asymmetrically curved", - "curvature anatomical entity", - "abnormal pes morphology", - "increased height of the anatomical entity", - "Limb undergrowth", + "multi cell part structure", + "abnormal respiratory system", + "oral cavity", + "Abnormality of the peripheral nervous system (HPO)", + "paralysed anatomical entity", + "lobe of cerebral hemisphere", + "Abnormal cranial nerve physiology (HPO)", + "cranial neuron projection bundle", + "abnormal aortic valve morphology", + "abnormality of cranial nerve physiology", + "increased qualitatively biological_process in independent continuant", + "Multiple cafe-au-lait spots (HPO)", + "increased pigmentation in independent continuant", + "pigmentation", + "manual digitopodium bone", + "increased biological_process in independent continuant", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "Abnormality of the skin (HPO)", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "increased pigmentation in skin of body", + "epithelial tube formation", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Localized skin lesion (HPO)", + "pelvic girdle skeleton", + "Abnormal peripheral nervous system morphology (HPO)", + "decreased length of anatomical entity", + "Abnormal uvea morphology (HPO)", + "abnormal kidney morphology", + "anterior uvea", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "abnormal internal female genitalia morphology", + "Aplasia/Hypoplasia affecting the anterior segment of the eye (HPO)", + "abnormal anterior segment of eyeball morphology", + "thoracic segment of trunk", + "abnormally formed anatomical entity in independent continuant", + "Abnormality of the autonomic nervous system (HPO)", + "abnormally formed anatomical entity", + "abnormal soft palate", + "abnormally fused anatomical entity and anatomical entity", + "Abnormal cellular immune system morphology (HPO)", + "aplasia or hypoplasia of palatine uvula", + "soft palate", + "roof of mouth", + "abnormal response to stimulus", + "morphological feature", + "abnormal location of anatomical entity", + "abnormal oral cavity morphology", + "Abnormal hand morphology (HPO)", + "trachea", + "mouth", + "Abnormal heart valve morphology (HPO)", + "midface", + "Aplasia/Hypoplasia of the uvula (HPO)", + "systemic arterial system", + "anatomical projection", + "abnormal size of multicellular organism", + "abnormal mouth morphology", + "Abnormal conjugate eye movement (HPO)", + "abnormal midface", + "haemolymphatic fluid", + "Decreased fertility in males (HPO)", + "integument", + "abnormally fused pedal digit and pedal digit", + "Decreased fertility (HPO)", + "hindlimb joint", + "abnormal late embryo", + "cavitated compound organ", "abnormal upper urinary tract", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", - "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", + "root", + "malformed anatomical entity", + "septum", + "autopodial skeleton", + "pelvic girdle region", + "individual digit of digitopodial skeleton", + "Abnormal renal physiology (HPO)", + "abnormal bone of pelvic complex morphology", + "abnormal pedal digit", + "longitudinal arch of pes", + "pedal digitopodium region", + "leukocyte", + "clavate anatomical entity", + "Abnormality of ganglion (HPO)", + "abnormal skin of body", + "concave 3-D shape anatomical entity", + "decreased size of the anatomical entity in the pectoral complex", + "leg", + "facial bone", + "abnormal digit", + "sensory system", + "pedal digit bone", + "ventricular system of central nervous system", + "acropodium region", + "anatomical system", + "pedal digitopodium bone", + "abnormal kidney", + "acropodial skeleton", + "trunk blood vessel", + "bone of pelvic complex", + "Hypoplasia of the ulna (HPO)", + "blood", + "Clubbing of toes (HPO)", + "Abnormality of peripheral nerves (HPO)", + "primary subdivision of skull", + "pedal digit phalanx endochondral element", + "ganglion", + "abnormal pigmentation in independent continuant", + "abnormal anterior chamber of eyeball morphology", + "abnormal mouth", + "autopod endochondral element", + "autopod bone", + "hindlimb skeleton", + "shape anatomical entity", + "Clubbing (HPO)", + "prominent anatomical entity", + "Abnormal lower limb bone morphology (HPO)", + "Abnormality of the midface (HPO)", + "hindlimb long bone", + "abnormal integument", + "Abnormality of the genital system (HPO)", + "Abnormal digit morphology (HPO)", + "Abnormality of the lower limb (HPO)", "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "Morphological abnormality of the gastrointestinal tract", - "abnormal reproductive system morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", + "Abnormal size of the palpebral fissures (HPO)", + "digit plus metapodial segment", + "tube formation", + "Abnormality of toe (HPO)", + "abnormal intestine morphology", + "Abnormality of the urinary system physiology (HPO)", + "Small intestinal stenosis (HPO)", + "Aplasia/Hypoplasia of facial bones (HPO)", + "Abnormality of limbs (HPO)", + "Duodenal stenosis (HPO)", + "Hydrocephalus (HPO)", + "internal genitalia", + "pes bone", + "abnormal multicellular organism morphology", + "duodenum", + "small intestine", + "Absent testis (HPO)", + "constricted duodenum", + "delayed growth", + "abnormal spinal cord", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", + "increased anatomical entity length in independent continuant", + "abnormal location of eyeball of camera-type eye", + "immaterial entity", + "Renal hypoplasia/aplasia (HPO)", + "nerve", + "abnormal duodenum morphology", + "non-material anatomical boundary", + "abnormal visual perception", + "increased length of the anatomical line between pupils", + "chamber of eyeball", + "male germ cell", + "anatomical line", + "future nervous system", + "aplasia or hypoplasia of uvea", + "hypothalamus-pituitary axis", + "Abnormality of the female genitalia (HPO)", + "abnormal hypothalamus-pituitary axis", + "synovial joint of pelvic girdle", + "pes", + "abnormal sensory perception of sound", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "nervous system process", + "exocrine system", + "circulatory organ", "abnormality of male reproductive system physiology", - "abnormal gamete generation", - "abnormality of camera-type eye physiology", + "glandular system", + "kinesthetic behavior", + "flattened anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "Finger clinodactyly (HPO)", + "blood vessel", + "hepatobiliary system", + "anatomical space", + "intestine", + "Abnormality of the endocrine system (HPO)", + "manual digit bone", + "limb long bone", + "abnormal prepuce of penis morphology", + "abnormal endocrine system", + "sloped anatomical entity", + "Abnormal anterior chamber morphology (HPO)", + "liver", + "amniotic fluid", + "increased size of the anatomical entity", + "Irregular hyperpigmentation (HPO)", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "abnormal size of brain ventricle", + "synovial joint", + "Myelodysplasia (HPO)", + "ileum", + "Aplasia/Hypoplasia of the testes (HPO)", + "abnormal peripheral nervous system", + "Abnormal eyelid morphology (HPO)", + "Neoplasm (HPO)", + "Hematological neoplasm (HPO)", + "hemolymphoid system", + "regional part of brain", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal cardial valve morphology", + "nucleate cell", + "skeleton of pes", + "stylopod", + "organ part", + "immune system", + "abnormal umbilicus morphology", + "Abnormal leukocyte morphology (HPO)", + "Abnormality of the eye (HPO)", + "hematopoietic cell", + "increased pigmentation", + "abnormal hematopoietic system", + "Abnormality of the forehead (HPO)", + "trunk bone", + "Leukopenia (HPO)", + "Decreased body weight (HPO)", + "abnormal immune system", + "erythroid lineage cell", + "Hernia (HPO)", + "pulmonary valve", + "flat bone", + "hematopoietic system", + "Abnormal neural tube morphology (HPO)", + "Abnormal duodenum morphology (HPO)", + "Macule (HPO)", + "abnormal forebrain morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormal soft palate morphology (HPO)", + "erythrocyte", + "telencephalon", + "Abnormality of prenatal development or birth (HPO)", + "embryonic tissue", + "Opisthokonta", + "abnormal telencephalon morphology", + "segment of autopod", + "Eumetazoa", + "abnormal size of skull", + "Clinodactyly (HPO)", + "abnormal pes morphology", + "organism", + "trunk", + "Abnormality of the ulna (HPO)", + "pedal digit", + "abnormal size of anatomical entity", + "Microcephaly (HPO)", + "frontal lobe", + "ventricle of nervous system", + "pedal digit plus metapodial segment", + "abnormal biological_process in independent continuant", + "metabolic process", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "abnormal pigmentation", + "lower respiratory tract", + "Abnormality of forebrain morphology (HPO)", + "shape cornea", + "transudate", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "manual digit 1 digitopodial skeleton", + "abnormal vertebral column", + "vertebral column", + "Scoliosis (HPO)", + "Abnormality of the curvature of the vertebral column (HPO)", + "Abnormal ventriculoarterial connection (HPO)", + "Abnormal shape of the palpebral fissure (HPO)", + "tissue development", + "shape palpebral fissure", + "layer of muscle tissue", + "head bone", + "urethral meatus", + "Nystagmus (HPO)", + "Deviation of the hand or of fingers of the hand (HPO)", + "Abnormality of the urinary system (HPO)", + "renal system", + "lower urinary tract", + "abnormal respiratory system morphology", + "glans penis", + "eyelid", + "autopodial extension", + "male urethra", + "camera-type eye", + "urethral opening", + "Displacement of the urethral meatus (HPO)", + "Renal insufficiency (HPO)", + "abnormal testis morphology", + "male urethral meatus", + "abnormal sensory perception", + "abnormal cardial valve morphology in the heart", + "abnormal urethra", + "Abnormal immune system morphology (HPO)", + "Abnormality of the lower urinary tract (HPO)", + "abnormal renal system", + "phalanx of pes", + "eye movement", + "Abnormality of the nose (HPO)", + "abnormal asymmetry of face", + "Abnormal palate morphology (HPO)", + "internal naris atresia", + "non-connected functional system", + "internal naris", + "abnormal physiologic nystagmus", + "skeleton of pelvic complex", + "respiratory airway", + "kidney", + "chemosensory system", + "abnormal lower urinary tract", + "posterior nasal aperture atresia", + "Abnormal foot morphology (HPO)", + "regional part of nervous system", + "orifice of skull", + "olfactory organ", + "naris", + "abnormal skull morphology", + "abnormal ureter", + "abnormal palpebral fissure", + "gland", + "abnormal cardiac atrium morphology in the heart", + "abnormal postcranial axial skeleton morphology", + "axial skeleton plus cranial skeleton", + "axial skeletal system", + "abnormal posterior nasal aperture morphology", + "Abnormal bone ossification (HPO)", + "Abnormality of the urethra (HPO)", + "nose", + "increased qualitatively response to stimulus", + "endocrine system", + "skull", + "Abnormality of the choanae (HPO)", + "Abnormal platelet count (HPO)", + "drooping eyelid", + "drooping anatomical entity", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Meckel diverticulum (HPO)", + "pelvic region of trunk", + "Abnormality of the mouth (HPO)", + "Ptosis (HPO)", + "abnormal secondary palate morphology", + "abnormal lens of camera-type eye", + "hindlimb", + "Decreased multicellular organism mass", + "decreased anatomical entity mass", + "growth", + "abnormal digestive system", + "Abnormal male urethral meatus morphology (HPO)", + "Abnormality of digestive system morphology (HPO)", + "Weight loss (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "abnormally fused anatomical entity and digit", + "posterior nasal aperture", + "abnormal external genitalia", + "Growth abnormality (HPO)", + "eukaryotic cell", + "abnormality of multicellular organism mass", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "Astigmatism (HPO)", + "abdomen", + "anus atresia", + "abnormality of kidney physiology", + "enteric nervous system", + "anatomical entity atresia", + "abnormal anus", + "Abnormality of the anus (HPO)", + "Anorectal anomaly (HPO)", + "abnormal interventricular septum morphology", + "abnormal anatomical entity morphology in the heart", + "prepuce", + "Anal atresia (HPO)", + "abnormal anus morphology", + "Abnormality iris morphology (HPO)", + "Abnormal systemic arterial morphology (HPO)", + "abnormal shape of continuant", + "abnormal systemic arterial system morphology", "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "Abnormal cardiac atrium morphology", - "Intellectual disability", - "Abnormal penis morphology", - "Abnormal tracheobronchial morphology", - "hypertrophic multicellular anatomical structure", - "abnormal kidney", - "abnormal reproductive system", - "abnormal internal genitalia", - "abnormal male reproductive organ morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "decreased developmental process", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Recurrent infections", - "asymmetrically curved cornea", - "Abnormal vascular morphology", + "decreased size of the eyeball of camera-type eye", + "Abnormal skull morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "common carotid artery plus branches", + "abnormal bony vertebral centrum morphology", + "skeletal element", + "increased reflex", + "forelimb", + "zeugopod", + "limb endochondral element", + "abnormal nerve", + "musculoskeletal system", + "abnormal limb", "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "decreased length of long bone", - "curved anatomical entity", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", - "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "Slanting of the palpebral fissure", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", + "cranial bone", + "Abnormality of the amniotic fluid (HPO)", + "Umbilical hernia (HPO)", + "abnormal cardiac ventricle morphology", + "glans", + "paired limb/fin skeleton", + "abnormal long bone morphology", + "Hypertelorism (HPO)", + "Abnormal forearm bone morphology (HPO)", + "heart vasculature", + "arm", + "abnormally fused manual digit and anatomical entity", + "endochondral bone", + "skeleton of lower jaw", + "bone of appendage girdle complex", + "digit 1", + "upper jaw region", + "Abnormal oral morphology (HPO)", + "forelimb zeugopod skeleton", + "Recurrent infections (HPO)", + "organism subdivision", + "vestibulo-auditory system", + "integumental system", + "abnormal forelimb zeugopod bone morphology", + "response to stimulus", + "brain gray matter", + "forelimb endochondral element", + "secondary palate", + "abnormal manual digit 1 morphology", + "male reproductive system", + "visual system", + "thoracic segment organ", + "limb bone", + "Abnormality of the immune system (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Cognitive impairment (HPO)", + "postcranial axial skeleton", + "hypertrophic cardiac ventricle", + "abnormal internal naris", + "abnormal incomplete closing of the interatrial septum", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "multi-limb segment region", + "High palate (HPO)", + "bodily fluid", + "abnormal anatomical entity morphology in the pectoral complex", + "Morphological central nervous system abnormality (HPO)", + "upper limb segment", + "immune system process", + "tunica fibrosa of eyeball", + "abnormal developmental process", + "bone of pectoral complex", + "abnormal ulna morphology", + "Oligohydramnios (HPO)", + "Abnormal skeletal morphology (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "Abnormal reflex (HPO)", + "Deviation of finger (HPO)", + "appendicular skeleton", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "motile cell", + "Abnormality of limb bone (HPO)", + "pedal digit digitopodial skeleton", + "abnormal anatomical entity", + "paired limb/fin", + "Abnormality of limb bone morphology (HPO)", + "abnormal great vessel of heart morphology", + "abnormal appendicular skeleton morphology", + "increased biological_process", + "arm bone", + "abnormal limb long bone morphology", + "embryonic epithelial tube formation", + "abnormality of camera-type eye physiology", + "cranial nerve", "abnormal incomplete closing of the anatomical entity", + "pectoral appendage", + "nervous system cell part layer", + "skeleton", "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal phenotype by ontology source", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormal developmental process", - "abnormal secondary palate morphology", - "Abnormal cornea morphology", - "Abnormal form of the vertebral bodies", - "entity", - "absent sperm in the independent continuant", + "Abnormality of reproductive system physiology (HPO)", + "abnormal opening of the anatomical entity", + "abnormal limb bone morphology", + "vasculature", + "Abnormal nervous system morphology (HPO)", + "abnormal skeletal system", + "homeostasis of number of cells", + "embryo", + "appendage", + "obsolete cell", + "male reproductive organ", + "Abnormal nervous system physiology (HPO)", + "Abnormality of cardiovascular system morphology (HPO)", + "Cleft palate (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "multi organ part structure", + "Abnormal venous morphology (HPO)", + "Abnormality of the cardiovascular system (HPO)", + "iris", + "Abnormality of the vasculature (HPO)", + "Abnormality of the vertebral column (HPO)", + "umbilicus", + "vascular system", + "cranium", + "abnormal bone of pectoral complex morphology", + "abnormal phalanx of manus morphology", + "arterial system", + "abnormal head bone morphology", + "abnormal leg", + "abnormal nose", + "long bone", + "Abnormal cerebral cortex morphology (HPO)", + "abnormal internal male genitalia", + "vein", + "abnormality of anatomical entity physiology", + "artery", + "increased size of the anatomical entity in independent continuant", + "Recurrent urinary tract infections (HPO)", + "protein-containing material entity", + "dermal skeletal element", + "Abnormality of the ear (HPO)", + "nervous system development", + "biological_process", + "Abnormal connection of the cardiac segments (HPO)", + "sexual reproduction", "abnormal anatomical entity, curved", - "abnormal spatial pattern of anatomical entity", + "subdivision of skeleton", + "anatomical cluster", + "viscus", + "arterial blood vessel", + "esophagus", + "digit 5", + "venous blood vessel", + "Hernia of the abdominal wall (HPO)", + "epithelial tube", + "abnormal digestive system morphology", + "quality", + "manual digit digitopodial skeleton", + "asymmetrically curved anatomical entity", + "forelimb zeugopod bone", + "penis", + "Abnormal penis morphology (HPO)", "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", + "Hypermelanotic macule (HPO)", + "constricted anatomical entity", + "limb", + "Abnormality of brain morphology (HPO)", + "intromittent organ", + "system process", + "Abnormal blood vessel morphology (HPO)", + "organ component layer", + "Intellectual disability (HPO)", + "eye", + "Abnormal eye physiology (HPO)", + "endocrine gland", + "Neurodevelopmental abnormality (HPO)", + "abnormal iris morphology", + "tissue", + "Abnormality of mental function", + "paired limb/fin segment", + "urethra", + "central nervous system", + "abnormal pelvic girdle bone/zone morphology", + "skeleton of limb", + "shape forehead", + "abnormal soft palate morphology", + "morphogenesis of embryonic epithelium", + "palatine uvula", + "nervous system", + "abnormal vestibulo-ocular reflex", + "abnormal small intestine", + "Decreased anatomical entity mass", + "brain ventricle/choroid plexus", + "Abnormal appendicular skeleton morphology (HPO)", + "abnormal trachea morphology", + "upper digestive tract", + "Abnormality of the cerebrospinal fluid (HPO)", + "Abnormal ventricular septum morphology (HPO)", + "system", + "Abnormality of skull size (HPO)", + "cerebrospinal fluid", + "epithelium", + "process", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormality of anatomical entity mass", "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", - "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased biological_process in multicellular organism", - "quality", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", - "Hypertrophic cardiomyopathy", - "absent anatomical entity in the multicellular organism", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "abnormal gamete", - "Abnormality of the outer ear", - "Absent testis", - "abnormal face morphology", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", - "abnormal shape of continuant", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal head", - "abnormal cell", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormal spermatogenesis", - "Clubbing of toes", + "bone element", + "Sloping forehead (HPO)", + "abnormal female reproductive system", + "abnormal nervous system morphology", + "mandible", + "zeugopodial skeleton", + "abnormal anatomical entity mass density", + "decreased developmental process", + "male gamete generation", + "upper urinary tract", + "delayed biological_process", + "skeletal system", + "hindlimb endochondral element", + "Decreased head circumference (HPO)", + "abnormally increased number of brain ventricle in the independent continuant", + "lateral structure", + "manual digit plus metapodial segment", + "abnormal nervous system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Dolichocephaly (HPO)", + "appendage girdle complex", + "Puberty and gonadal disorders (HPO)", + "Abnormal morphology of ulna (HPO)", + "Hydroureter (HPO)", + "innominate bone", "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", - "decreased spermatogenesis", - "abnormal kidney morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal visual perception", - "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal response to stimulus", + "Abnormal preputium morphology (HPO)", + "decreased multicellular organism mass", + "physiologic nystagmus", + "Abnormality of skin morphology (HPO)", + "Abnormal cerebral ventricle morphology (HPO)", + "Epicanthus (HPO)", + "cardiovascular system", + "abdominal segment bone", + "3-D shape anatomical entity", + "Abnormality of the testis size (HPO)", + "Abnormality of refraction (HPO)", + "brain ventricle", + "disconnected anatomical group", + "ocular surface region", + "gamete", + "changed biological_process rate in independent continuant", + "Abnormality of the small intestine (HPO)", + "eyeball of camera-type eye", + "Abnormality of the curvature of the cornea (HPO)", + "Abnormal cornea morphology (HPO)", + "abnormal shape of cornea", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "skeleton of manus", + "abnormal shape of external ear", + "anterior segment of eyeball", + "bone element hypoplasia in face", + "blood vasculature", + "cornea", + "hindlimb bone", + "oviduct", + "Abnormal eye morphology (HPO)", + "reproductive organ", + "organism substance", + "digitopodium bone", + "forelimb zeugopod bone hypoplasia", + "Growth delay (HPO)", + "curvature anatomical entity in independent continuant", + "abnormal camera-type eye morphology", + "abnormal cornea, curved", + "anatomical structure", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal face", + "Abnormality of the lens (HPO)", + "Abnormal anterior eye segment morphology (HPO)", + "shape digit", + "aplasia or hypoplasia of iris", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal limb bone", + "excretory system", + "abnormal skeletal joint morphology", + "Arteriovenous malformation (HPO)", + "aplasia or hypoplasia of telencephalon", + "abnormal brain morphology", + "abnormal cornea morphology", + "abnormal bone element mass density", + "manual digitopodium region", + "brain", + "digitopodium region", + "increased biological_process in skin of body", + "abnormal cornea, asymmetrically curved", + "Abnormal intestine morphology (HPO)", + "heart left ventricle", + "aplasia or hypoplasia of manual digit", + "tube", + "Abnormality of lower limb joint (HPO)", + "ulna endochondral element", + "Abnormality of the liver (HPO)", + "response to external stimulus", + "Abnormal respiratory system morphology (HPO)", + "abnormal brain ventricle morphology", + "autopod region", + "compound organ", + "clavate digit", + "Deviation of the 5th finger (HPO)", + "anatomical entity", + "pectoral complex", + "ulna", + "trunk region element", + "digestive system element", + "external soft tissue zone", + "gray matter", + "abnormal ocular adnexa morphology", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "Abnormal pulmonary valve morphology (HPO)", + "Abnormality of the calvaria (HPO)", + "respiratory tract", + "proximo-distal subdivision of respiratory tract", + "Sideroblastic anemia (HPO)", + "body proper", + "abnormal forelimb zeugopod", + "Abnormality of the digestive system (HPO)", + "hemopoiesis", + "femur", + "Metazoa", + "Neurodevelopmental delay (HPO)", + "multicellular organism reproduction", + "abnormal tracheobronchial tree morphology", + "subdivision of digestive tract", + "subdivision of tube", + "abdominal segment element", + "Abnormal tracheal morphology (HPO)", + "abnormal neural tube closure", + "Upper limb undergrowth (HPO)", + "digestive system", + "abnormal growth", + "Abnormal internal genitalia (HPO)", + "respiratory system", + "immaterial anatomical entity", + "Abnormal reproductive system morphology (HPO)", + "Abnormality of head or neck (HPO)", + "endochondral element", + "respiratory tube", + "abnormal blood vessel morphology", + "Ocular anterior segment dysgenesis (HPO)", + "curvature anatomical entity", + "Tracheoesophageal fistula (HPO)", + "skin of body", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "Abnormality of the phalanges of the toes (HPO)", + "multi-tissue structure", + "abnormal central nervous system morphology", + "Cryptorchidism (HPO)", "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "abnormal digestive system", - "abnormal craniocervical region morphology", - "abnormal cornea morphology", + "material entity", + "abnormal head", + "asymmetrically curved cornea", + "increased qualitatively biological_process", + "Abnormal localization of kidney (HPO)", + "anatomical line between pupils", + "system development", + "ocular adnexa", + "zone of skin", + "abnormal palatine uvula morphology", + "late embryo", + "abnormal external male genitalia", + "digestive tract", + "abnormal phalanx of pes", + "endoderm-derived structure", + "tracheobronchial tree", + "Hyperpigmentation of the skin (HPO)", + "abnormal cardiovascular system", + "Abnormality of the respiratory system (HPO)", + "Syndactyly (HPO)", + "pectoral appendage skeleton", + "male gamete", + "ectoderm-derived structure", + "Abnormal male reproductive system physiology (HPO)", + "Abnormality of thrombocytes (HPO)", + "Abnormal umbilicus morphology (HPO)", + "anatomical wall", + "Abnormal pinna morphology (HPO)", + "skeleton of pedal acropodium", + "abnormal shape of palpebral fissure", + "abnormal external ear morphology", + "abnormal reproductive system morphology", + "Conotruncal defect (HPO)", + "Cataract (HPO)", + "abnormal external ear", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal zone of skin morphology", + "digit 1 digitopodial skeleton", + "postcranial axial skeletal system", + "abnormal ear morphology", + "musculature of body", + "ventricular system of brain", + "reproductive system", + "Abnormal ear morphology (HPO)", + "joint of girdle", + "abnormal uvea morphology", + "Abnormality of globe location (HPO)", + "Abnormality of the gastrointestinal tract (HPO)", + "abnormal male reproductive organ morphology", + "male organism", + "skeleton of pedal digitopodium", + "abnormal reproductive process", + "transparent eye structure", + "lower limb segment", + "abnormal sensory perception of light stimulus", + "exocrine gland", + "abnormal esophagus morphology", + "lens of camera-type eye", + "behavior", + "anatomical conduit", + "Non-obstructive azoospermia (HPO)", + "abnormal incomplete closing of the ductus arteriosus", + "Abnormal spermatogenesis (HPO)", + "Abnormal oral cavity morphology (HPO)", + "abnormal skeletal system morphology", + "Joint dislocation (HPO)", + "internal male genitalia", + "occurrent", + "increased length of the anatomical entity", + "Hypopigmented skin patches (HPO)", + "shape anatomical entity in independent continuant", + "cardiac chamber", + "changed developmental process rate", + "Abnormality of long bone morphology (HPO)", + "abnormal anatomical entity morphology", + "heart", + "Abnormality of the genitourinary system (HPO)", "continuant", + "haploid cell", + "Short stature (HPO)", + "Upslanted palpebral fissure (HPO)", + "abnormal developmental process involved in reproduction", + "decreased biological_process in multicellular organism", + "hypertrophic multicellular anatomical structure", + "spermatogenesis", + "gray matter of telencephalon", + "parasympathetic nervous system", + "vertebra", + "prepuce of penis", + "abnormal liver", "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "absent gamete", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", + "Abnormality of ganglion of peripheral nervous system (HPO)", "abnormality of nervous system physiology", - "Abnormal external genitalia", - "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", + "abnormal enteric ganglion morphology", + "Abnormality of male external genitalia (HPO)", + "abnormality of anatomical entity height", + "abnormal genitourinary system", + "appendicular skeletal system", + "cranial nerve related reflex", + "abnormal anatomical entity morphology in the independent continuant", + "increased height of anatomical entity in independent continuant", + "germ cell", + "abnormality of cardiovascular system physiology", + "multicellular organism development", + "abnormal spermatogenesis", + "shape eyelid", + "craniocervical region", + "abnormal connective tissue", + "aortic valve", + "abnormal eyeball of camera-type eye", + "testis", + "Triphalangeal thumb (HPO)", + "forelimb long bone", + "Limb undergrowth (HPO)", + "cell", + "phenotype by ontology source", + "germ line cell", + "Abnormal heart morphology (HPO)", + "abnormal gamete generation", + "gamete generation", + "abnormal embryonic tissue morphology", + "subdivision of organism along appendicular axis", + "abnormal forelimb zeugopod bone", + "left cardiac chamber", + "abnormal vascular system morphology", + "increased height of the anatomical entity", + "external male genitalia", + "developmental process", + "multicellular organismal process", + "abnormally fused digit and digit", + "external genitalia", + "reproductive structure", "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", + "anatomical structure formation involved in morphogenesis", + "abnormal reproductive system", + "animal cell", + "abnormality of reproductive system physiology", + "gonad", + "phalanx endochondral element", + "Abnormal ear physiology (HPO)", + "limb skeleton subdivision", + "ecto-epithelium", + "Abnormal upper limb bone morphology (HPO)", + "face", + "Pes planus (HPO)", + "abnormal craniocervical region", + "Hip dislocation (HPO)", + "decreased qualitatively biological_process", + "decreased biological_process", + "Choanal atresia (HPO)", + "olfactory system", + "abnormal cerebrospinal fluid", + "simple eye", + "abnormal peripheral nervous system morphology", + "ductus arteriosus", + "abnormal eyelid morphology", + "neuron projection bundle", + "abnormal heart right ventricle morphology", + "Abnormality of forearm bone (HPO)", + "semen", + "Abnormal facial shape (HPO)", "curved anatomical entity in independent continuant", - "bicornuate anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "abnormal vasculature", - "changed developmental process rate", - "abnormal genitourinary system", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "abnormal myocardium morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal male reproductive system physiology", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "Abnormal eye physiology", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", - "abnormal tracheobronchial tree morphology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "increased length of the anatomical line between pupils", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal anus", - "Atypical behavior", + "neural crest-derived structure", + "Abnormality of the abdominal organs (HPO)", + "anterior chamber of eyeball", + "Abnormal right ventricle morphology (HPO)", + "Abnormal leukocyte count (HPO)", "increased size of the brain ventricle", - "Anal atresia", - "abnormal small intestine", - "Abnormality of the anus", - "Weight loss", - "Abnormality of the forehead", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "Abnormal pulmonary valve physiology", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "abnormal growth", - "abnormal cornea, curved", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormal lens morphology", - "opaque anatomical entity", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "drooping eyelid", - "posterior nasal aperture atresia", - "Choanal atresia", - "Abnormal axial skeleton morphology", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Short long bone", - "abnormal palpebral fissure", - "anus atresia", - "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", - "abnormal posterior nasal aperture morphology", - "Abnormality of the orbital region", - "abnormal nerve", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "Abnormality of the choanae", - "abnormal internal naris", - "decreased pigmentation in independent continuant", - "Hypospadias", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "abnormal renal system", - "abnormal urethra", - "Displacement of the urethral meatus", - "Morphological central nervous system abnormality", - "abnormal anus morphology", - "Abnormality of the urinary system", - "Abnormality of the lower urinary tract", - "Abnormal shape of the palpebral fissure", - "abnormal shape of palpebral fissure", - "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormality of the vertebral column", - "Macule", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", - "Scoliosis", - "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "Abnormal forebrain morphology", - "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Leukopenia", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "Abnormal uterus morphology", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "abnormally decreased number of cell in the independent continuant", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal immune system", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormally decreased number of hematopoietic cell", - "abnormal hematopoietic system", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Myelodysplasia", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Frontal bossing", - "abnormal size of brain ventricle", - "delayed biological_process", - "sloped forehead", - "Short forearm", - "abnormal biological_process", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", - "abnormal liver", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", + "Abnormal testis morphology (HPO)", + "multicellular organism", + "Abnormal uvula morphology (HPO)", + "decreased qualitatively pigmentation", + "abnormal ocular adnexa", + "abnormal vein morphology", + "flat anatomical entity", + "Abnormality of the kidney (HPO)", + "Abnormal external genitalia (HPO)", + "Abnormal cerebral morphology (HPO)", + "aplasia or hypoplasia of skeleton", + "Aplasia/Hypoplasia affecting the uvea (HPO)", + "developmental process involved in reproduction", + "heart right ventricle", + "cellular organisms", + "manual digit", + "main body axis", + "Abnormality of the integument (HPO)", + "segment of pes", + "multicellular organismal reproductive process", + "abdomen element", + "Abnormal vascular morphology (HPO)", + "subdivision of trunk", + "external ear", + "reproduction", + "abnormal cardiovascular system morphology", + "erythrocyte homeostasis", + "abnormal arch of centrum of vertebra", + "venous system", + "Abnormal renal morphology (HPO)", + "abnormal hip joint morphology", + "Hypospadias (HPO)", + "Abnormal axial skeleton morphology (HPO)", + "changed biological_process rate", + "material anatomical entity", + "Abnormality of connective tissue (HPO)", "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", - "hypertrophic cardiac ventricle", - "increased anatomical entity length in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", - "Hypertelorism", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Oligohydramnios", - "abnormal soft palate morphology", - "Abnormal duodenum morphology", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "Duodenal stenosis", - "abnormal intestine morphology", - "Abnormality of the lower limb", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal digit", - "3-D shape anatomical entity", - "abnormal pedal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Almond-shaped palpebral fissure", - "shape digit", - "Clubbing", - "abnormal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "Abnormal midface morphology", + "entity", + "Abnormal cardiovascular system physiology (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "cardiac valve", + "decreased spermatogenesis", + "digit 1 plus metapodial segment", + "abnormal ear", + "Hypogonadism (HPO)", + "sensory perception of light stimulus", + "somatic cell", + "Abnormal erythrocyte morphology (HPO)", + "Abnormal shape of the frontal region (HPO)", + "Abnormal frontal bone morphology (HPO)", + "Abnormality of male internal genitalia (HPO)", + "abnormal internal genitalia", + "anatomical collection", + "cranial skeletal system", + "Azoospermia (HPO)", + "curved anatomical entity", + "zone of organ", + "orifice", + "abnormal orbital region", "abnormal male reproductive system", - "abnormal mouth morphology", - "abnormal oral cavity morphology", - "Hernia of the abdominal wall", - "Abnormal palate morphology", - "abnormal midface morphology", - "Abnormal soft palate morphology", - "clavate anatomical entity", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "abnormal integument", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "abnormal cardiac valve morphology in the heart", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "paralysed cranial nerve", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormal peripheral nervous system morphology", - "Cranial nerve paralysis", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Aplasia/Hypoplasia of fingers", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", - "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the eye", - "Finger clinodactyly", - "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "Abnormality of the skeletal system", - "Deviation of finger", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the ulna", + "aplasia or hypoplasia of anatomical entity", + "primary circulatory organ", + "Abnormality of corneal shape (HPO)", + "decreased qualitatively reproductive process", + "native cell", + "uvea", + "increased size of the head", + "Abnormality of the palpebral fissures (HPO)", + "bone of free limb or fin", + "bone of jaw", + "organ", + "Anemia of inadequate production (HPO)", + "manual digit phalanx endochondral element", + "jaw region", + "Abnormality of thumb phalanx (HPO)", + "pelvic appendage skeleton", + "entire sense organ system", + "multicellular organismal-level homeostasis", + "manus bone", + "Abnormality of the male genitalia (HPO)", + "posterior region of body", + "anatomical cavity", + "Abnormal ocular adnexa morphology (HPO)", + "systemic artery", + "abnormal size of head", + "manual digit 5 plus metapodial segment", + "structure with developmental contribution from neural crest", + "skin of face", + "decreased qualitatively developmental process", + "pelvic complex", + "sperm", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "sense organ", + "circulatory system", + "Abnormality of the ocular adnexa (HPO)", + "flat longitudinal arch of pes", + "Abnormality of the face (HPO)", + "genitourinary system", + "multicellular anatomical structure", + "head", + "Ventricular septal defect (HPO)", + "subdivision of head", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "abnormal alimentary part of gastrointestinal system", + "3-D shape anatomical entity in independent continuant", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "abnormally fused pedal digit and anatomical entity", + "autonomic ganglion", + "palpebral fissure", + "ear", + "forelimb bone", + "Hearing abnormality (HPO)", + "cognition", + "abnormal anatomical entity morphology in the skeleton of manus", + "coronary vessel", + "abnormal anatomical entity, asymmetrically curved", + "phalanx", + "abnormally fused anatomical entity and manual digit", + "digestive system gland", + "Abnormality of the synovia (HPO)", + "Neoplasm by anatomical site (HPO)", + "abnormal penis", + "Cardiomyopathy (HPO)", + "thoracic cavity element", + "abnormal hard palate morphology", + "abnormal phenotype by ontology source", + "Abnormal cellular phenotype (HPO)", + "alimentary part of gastrointestinal system", + "abnormal amniotic fluid", + "phenotype", + "subdivision of organism along main body axis", + "radius endochondral element", + "abnormal respiratory tube morphology", + "reproductive process", + "cell development", + "All (HPO)", + "prominent forehead", + "Abnormality of the outer ear (HPO)", + "anterior region of body", + "vessel", + "Ventriculomegaly (HPO)", + "Phenotypic abnormality", + "abnormal ulna", + "orbital region", + "Abnormality of the upper urinary tract (HPO)", ], }, { - "id": "Reactome:R-CEL-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:6239", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-MMU-6783310", + "id": "Reactome:R-CFA-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10090", + "in_taxon": "NCBITaxon:9615", "namespace": "Reactome", "has_phenotype_count": 0, }, { - "id": "Reactome:R-RNO-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10116", - "namespace": "Reactome", + "id": "MONDO:0060779", + "category": "biolink:Disease", + "name": "acquired Fanconi syndrome", + "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "provided_by": "phenio_nodes", + "synonym": ["acquired Fanconi syndrome"], + "namespace": "MONDO", "has_phenotype_count": 0, }, { @@ -2207,25 +3279,12 @@ def search_response(): "has_phenotype_count": 0, }, { - "id": "MONDO:0001083", + "id": "MONDO:0060778", "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.", + "name": "adult Fanconi syndrome", + "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", "provided_by": "phenio_nodes", - "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", - ], + "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], "namespace": "MONDO", "has_phenotype_count": 0, }, @@ -2256,43 +3315,6 @@ def search_response(): "namespace": "Reactome", "has_phenotype_count": 0, }, - { - "id": "MONDO:0060778", - "category": "biolink:Disease", - "name": "adult Fanconi syndrome", - "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", - "provided_by": "phenio_nodes", - "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], - "namespace": "MONDO", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-DDI-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:44689", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-GGA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9031", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-SSC-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9823", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, { "id": "MONDO:0009217", "category": "biolink:Disease", @@ -2303,243 +3325,434 @@ def search_response(): "namespace": "MONDO", "has_phenotype": ["HP:0002754", "HP:0002783", "HP:0005939", "HP:0001876", "HP:0007606"], "has_phenotype_label": [ - "Osteomyelitis", - "Recurrent lower respiratory tract infections", - "Multiple bilateral pneumothoraces", - "Pancytopenia", - "Multiple cutaneous malignancies", + "Osteomyelitis (HPO)", + "Recurrent lower respiratory tract infections (HPO)", + "Multiple bilateral pneumothoraces (HPO)", + "Pancytopenia (HPO)", + "Multiple cutaneous malignancies (HPO)", ], "has_phenotype_count": 5, "has_phenotype_closure": [ - "HP:0008069", - "UPHENO:0002635", - "UPHENO:0063722", - "UPHENO:0086005", - "UPHENO:0011498", - "UPHENO:0087123", - "UPHENO:0088166", - "UPHENO:0085195", - "UPHENO:0004459", - "HP:0032251", - "UPHENO:0086049", - "HP:0010987", - "UPHENO:0087339", - "UPHENO:0085189", - "HP:0011893", - "UPHENO:0086172", - "HP:0012145", - "UPHENO:0085344", - "UPHENO:0076675", - "HP:0001881", - "HP:0025461", + "UPHENO:0003811", + "HP:0011793", + "HP:0001574", + "UBERON:0004121", + "HP:0002664", + "CL:0002092", + "HP:0001871", "HP:0011875", - "UPHENO:0076703", - "HP:0005561", - "HP:0011873", - "UPHENO:0087355", - "UPHENO:0086173", - "UPHENO:0085371", - "HP:0001876", + "HP:0001872", + "UBERON:0002390", + "HP:0001881", + "CL:0000458", + "HP:0007606", + "CL:0002371", "HP:0025354", - "UPHENO:0085070", - "UPHENO:0085984", - "HP:0020047", - "UPHENO:0006910", - "UPHENO:0085144", - "UPHENO:0081590", + "HP:0011873", + "CL:0000764", + "CL:0000763", + "UBERON:0002193", + "HP:0011842", + "CL:0000548", + "CL:0000457", + "HP:0005561", + "CL:0000151", + "CL:0002242", + "CL:0000219", + "CL:0000329", + "UPHENO:0076703", + "UBERON:0004120", + "CL:0001035", "HP:0005939", + "UBERON:0000077", + "OBI:0100026", + "PR:000050567", + "NCBITaxon:33154", + "UBERON:0001474", + "NCBITaxon:131567", + "UBERON:0005906", + "UPHENO:0004459", + "NCBITaxon:6072", + "UPHENO:0081590", + "UBERON:0000170", + "HP:0025461", + "CL:0000081", + "UBERON:0004119", + "UPHENO:0004536", + "UBERON:0000915", + "HP:0020047", + "UBERON:0001005", + "UBERON:0000025", + "UBERON:0003103", + "UBERON:0005177", + "UPHENO:0081581", + "HP:0002719", + "HP:0032101", + "UBERON:0011676", + "UPHENO:0020584", + "CL:0000988", + "UPHENO:0015280", + "HP:0011947", + "UBERON:0000064", + "BFO:0000020", + "UBERON:0013701", + "UBERON:0000468", + "HP:0002088", + "UBERON:0000171", + "UPHENO:0076692", + "UBERON:0005181", + "GO:0006954", + "HP:0002205", + "UBERON:0015212", + "NCBITaxon:1", + "UBERON:0000042", + "HP:0002086", + "UBERON:0000467", + "UBERON:0010000", + "UBERON:0000065", + "UBERON:0002416", + "UBERON:0000465", + "HP:0002783", + "UBERON:0005178", + "GO:0006950", "HP:0001873", + "CL:0000225", + "UBERON:0002048", + "UBERON:0001062", + "CL:0000255", + "UPHENO:0080693", + "CL:0000003", + "UBERON:0000062", + "UBERON:0001004", + "UPHENO:0054970", + "BFO:0000003", + "HP:0032251", + "UBERON:0009569", + "PATO:0000001", + "UBERON:0004111", + "HP:0011843", + "HP:0008069", + "UBERON:0009778", + "HP:0000924", + "UBERON:0004765", + "HP:0002103", + "UPHENO:0075696", + "BFO:0000002", + "UPHENO:0074685", + "HP:0000118", + "UPHENO:0082723", + "UPHENO:0049588", + "HP:0012145", + "GO:0006952", + "UPHENO:0049586", + "UPHENO:0059829", + "NCBITaxon:33208", + "UBERON:0000072", + "UPHENO:0002635", + "HP:0012647", + "UPHENO:0002536", + "CL:0000738", + "UBERON:0000061", + "CL:0000000", + "UPHENO:0082875", + "UBERON:0015203", + "UPHENO:0049587", + "UBERON:0002075", "HP:0002107", - "HP:0002783", - "UPHENO:0085302", - "UPHENO:0001001", - "HP:0002086", - "HP:0000001", - "UPHENO:0085118", + "BFO:0000004", + "UBERON:0034923", + "UBERON:0002100", + "HP:0002754", + "UPHENO:0001003", "UPHENO:0081440", - "HP:0002715", - "UPHENO:0080377", + "UBERON:0002199", + "HP:0010978", + "BFO:0000040", + "HP:0011893", + "UPHENO:0001005", + "UBERON:0002097", + "CL:0000232", "UPHENO:0083263", + "UPHENO:0049584", + "GO:0008150", + "CL:0000233", + "HP:0012649", + "NCBITaxon:2759", + "UPHENO:0074624", "UPHENO:0074572", - "UPHENO:0085068", - "HP:0011843", - "HP:0002088", - "UPHENO:0001003", - "UPHENO:0001002", - "UPHENO:0049586", + "UBERON:0034925", "UPHENO:0002263", - "UPHENO:0049588", - "UPHENO:0002536", - "HP:0011842", - "UPHENO:0002332", + "UBERON:0001558", + "UPHENO:0002964", + "UPHENO:0001002", + "UBERON:0000481", + "UPHENO:0020748", + "UBERON:0001434", + "HP:0002715", + "UBERON:0011216", "HP:0033127", - "UPHENO:0059829", - "UPHENO:0084987", - "UPHENO:0049587", - "UPHENO:0049584", - "UPHENO:0077426", - "UPHENO:0075696", - "UPHENO:0084928", - "UPHENO:0082875", + "HP:0000001", + "UPHENO:0074687", + "GO:0050896", + "UPHENO:0080377", + "UPHENO:0080662", + "UBERON:0002371", + "UBERON:0000060", + "UBERON:0013522", "BFO:0000001", - "BFO:0000002", + "UPHENO:0080221", "UPHENO:0076684", - "HP:0000924", "HP:0000951", - "UPHENO:0080221", - "UPHENO:0074685", + "UBERON:0000479", + "HP:0001876", "UPHENO:0019970", - "HP:0000118", - "UPHENO:0074687", - "UPHENO:0080693", - "HP:0011793", - "UPHENO:0002948", - "UPHENO:0080662", - "UPHENO:0074624", - "UPHENO:0002964", - "HP:0010978", - "HP:0012252", - "HP:0002754", - "HP:0001574", - "UPHENO:0082723", - "HP:0001871", - "UPHENO:0086045", + "HP:0010987", + "UBERON:0002204", "UPHENO:0082682", - "UPHENO:0086908", - "UPHENO:0001005", - "HP:0012647", - "HP:0002664", - "BFO:0000020", - "HP:0007606", - "HP:0012649", - "UPHENO:0003811", - "HP:0002103", - "HP:0032101", - "UPHENO:0020584", - "UPHENO:0020748", - "HP:0011947", - "UPHENO:0054970", - "PATO:0000001", - "HP:0002719", - "HP:0002205", - "UPHENO:0004536", - "HP:0001872", - "UPHENO:0076692", - "UPHENO:0015280", - "UPHENO:0087433", + "UBERON:0002405", + "UPHENO:0002332", + "UBERON:0000977", + "UBERON:0013702", + "HP:0012252", + "UPHENO:0002948", + "BFO:0000015", + "UBERON:0000475", + "UPHENO:0001001", ], "has_phenotype_closure_label": [ - "Multiple cutaneous malignancies", - "Abnormality of the integument", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Neoplasm of the skin", - "abnormal number of anatomical enitites of type platelet", - "abnormal number of anatomical enitites of type cell", - "Abnormal cellular immune system morphology", - "Abnormal cellular phenotype", - "Abnormal platelet morphology", - "abnormal skeletal system morphology", - "Abnormality of blood and blood-forming tissues", + "Abnormality of the integument (HPO)", + "ectoderm-derived structure", + "integumental system", + "Abnormality of the skin (HPO)", + "Neoplasm of the skin (HPO)", "abnormal skin of body", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormally decreased number of platelet", - "Abnormal leukocyte count", - "Abnormal cell morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormally decreased number of hematopoietic cell", - "abnormal bone marrow morphology", - "Neoplasm", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal platelet count", - "abnormal blood cell", - "Pancytopenia", - "abnormal platelet", - "abnormal bone marrow cell", - "abnormal bone marrow cell morphology", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal immune system morphology", - "Abnormal skeletal morphology", - "Abnormality of thrombocytes", - "All", - "Respiratory tract infection", - "Abnormality of the musculoskeletal system", - "abnormal myeloid cell morphology", - "increased inflammatory response in bone element", - "abnormal phenotype by ontology source", - "Neoplasm by anatomical site", - "Thrombocytopenia", - "quality", - "phenotype", - "Increased inflammatory response", - "abnormal inflammatory response", - "phenotype by ontology source", - "Osteomyelitis", - "Multiple bilateral pneumothoraces", - "abnormal anatomical entity", - "abnormal immune system", - "abnormality of anatomical entity physiology", - "Abnormality of the skin", - "Phenotypic abnormality", - "Recurrent respiratory infections", - "abnormal cell", - "abnormally decreased number of cell", - "Recurrent infections", - "Abnormal inflammatory response", - "abnormal response to stress", - "Abnormal myeloid cell morphology", - "increased biological_process in bone element", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", + "abnormal integument", + "native cell", + "hemolymphoid system", + "Pancytopenia (HPO)", + "tissue", + "Thrombocytopenia (HPO)", + "erythroid lineage cell", + "anucleate cell", + "secretory cell", + "eukaryotic cell", + "Multiple cutaneous malignancies (HPO)", + "motile cell", + "oxygen accumulating cell", + "Abnormal immune system morphology (HPO)", + "Abnormal leukocyte count (HPO)", + "nucleate cell", + "bone marrow cell", + "biogenic amine secreting cell", + "Abnormal cellular phenotype (HPO)", + "serotonin secreting cell", + "bone cell", + "somatic cell", + "animal cell", + "erythrocyte", + "Abnormal myeloid cell morphology (HPO)", + "myeloid cell", + "Abnormal platelet morphology (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Abnormality of thrombocytes (HPO)", + "mixed endoderm/mesoderm-derived structure", + "Opisthokonta", + "cellular organisms", + "serous sac", + "skeletal element", + "Abnormal pleura morphology (HPO)", + "Eumetazoa", + "multi-tissue structure", + "protein-containing material entity", + "Metazoa", + "mesoderm-derived structure", + "bone marrow", + "Eukaryota", + "serous membrane", + "pleura", + "Multiple bilateral pneumothoraces (HPO)", + "compound organ", + "proximo-distal subdivision of respiratory tract", + "organ", "abnormal hematopoietic system", + "abnormal lung morphology", + "lateral structure", + "abnormal multicellular organism morphology", + "Respiratory tract infection (HPO)", + "hematopoietic system", + "blood cell", + "subdivision of tube", + "abnormal pleura morphology", + "respiratory system", + "leukocyte", + "response to stress", + "organ part", + "Abnormal cellular immune system morphology (HPO)", + "respiratory tract", + "anatomical conduit", + "Abnormal cell morphology (HPO)", + "respiratory airway", + "viscus", + "thoracic segment organ", + "response to stimulus", + "thoracic segment of trunk", + "pair of lungs", + "endoderm-derived structure", + "Neoplasm (HPO)", + "respiration organ", + "Recurrent respiratory infections (HPO)", + "abnormal respiratory system morphology", + "subdivision of trunk", + "main body axis", + "abnormal phenotype by ontology source", + "trunk", + "Abnormality of blood and blood-forming tissues (HPO)", + "lung", + "Recurrent infections (HPO)", + "integument", + "Abnormal respiratory system morphology (HPO)", + "abnormal biological_process", + "immune system", + "Abnormality of immune system physiology (HPO)", + "abnormal skeletal system", + "disconnected anatomical group", + "increased qualitatively biological_process in independent continuant", + "abnormality of immune system physiology", + "skeletal system", + "pleural sac", + "increased qualitatively response to stimulus", + "Abnormality of bone marrow cell morphology (HPO)", + "specifically dependent continuant", + "organ system subdivision", + "multicellular organism", "entity", - "Abnormality of the immune system", - "abnormal hematopoietic system morphology", - "increased inflammatory response in independent continuant", + "Abnormality of musculoskeletal physiology (HPO)", "abnormality of musculoskeletal system physiology", - "Abnormality of the skeletal system", - "increased qualitatively inflammatory response in independent continuant", - "specifically dependent continuant", - "abnormality of immune system physiology", - "Abnormality of bone marrow cell morphology", + "thoracic cavity element", + "tube", + "Recurrent lower respiratory tract infections (HPO)", + "hematopoietic cell", + "abnormal response to stress", + "Abnormal inflammatory response (HPO)", + "lower respiratory tract", + "organism subdivision", + "Abnormal platelet count (HPO)", + "inflammatory response", + "increased biological_process in bone element", + "Phenotypic abnormality", + "abnormal skeletal system morphology", + "anatomical collection", + "abnormal anatomical entity morphology", + "process", + "quality", + "anatomical system", + "Unusual infection (HPO)", + "anatomical structure", + "platelet", + "subdivision of organism along main body axis", "increased inflammatory response", - "abnormal biological_process", - "abnormal integument", - "abnormal cell morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of immune system physiology", - "increased qualitatively response to stimulus", - "increased qualitatively biological_process in independent continuant", - "Abnormal lung morphology", + "Abnormal skeletal morphology (HPO)", + "abnormal inflammatory response", "continuant", - "abnormal respiratory system morphology", - "abnormal hematopoietic cell morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal blood cell morphology", - "abnormally decreased number of myeloid cell", - "increased biological_process", - "abnormal leukocyte morphology", - "abnormal pleura morphology", + "trunk region element", + "defense response", + "occurrent", + "cell", "abnormal biological_process in independent continuant", - "increased qualitatively inflammatory response", - "abnormal response to stimulus", - "Abnormal immune system morphology", - "increased qualitatively biological_process", - "Abnormal musculoskeletal physiology", - "Unusual infection", - "Pneumothorax", - "abnormal lung morphology", - "Abnormal leukocyte morphology", - "Abnormality of the respiratory system", - "abnormal platelet morphology", - "Recurrent lower respiratory tract infections", - "Abnormal respiratory system morphology", + "bone element", + "body proper", "changed biological_process rate", - "abnormal anatomical entity morphology", + "increased qualitatively biological_process", + "All (HPO)", + "non-connected functional system", + "Increased inflammatory response (HPO)", + "increased biological_process in independent continuant", + "organism", + "Abnormality of the respiratory system (HPO)", + "increased qualitatively inflammatory response", + "musculoskeletal system", + "Abnormal leukocyte morphology (HPO)", + "increased qualitatively inflammatory response in independent continuant", + "Phenotypic abnormality (HPO)", "abnormal respiratory system", - "Abnormal pleura morphology", + "increased inflammatory response in independent continuant", + "phenotype by ontology source", + "abnormal response to stimulus", + "Neoplasm by anatomical site (HPO)", + "anatomical entity", + "abnormal immune system", + "root", + "changed biological_process rate in independent continuant", + "abnormality of anatomical entity physiology", + "increased biological_process", + "Pneumothorax (HPO)", + "Osteomyelitis (HPO)", + "material entity", + "material anatomical entity", + "skin of body", + "increased inflammatory response in bone element", + "abnormal anatomical entity", + "Abnormality of the skeletal system (HPO)", + "independent continuant", + "multicellular anatomical structure", + "phenotype", + "Abnormal lung morphology (HPO)", + "Abnormality of the immune system (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "biological_process", + "anatomical wall", + "abnormal anatomical entity morphology in the independent continuant", + ], + }, + { + "id": "Reactome:R-DDI-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:44689", + "namespace": "Reactome", + "has_phenotype_count": 0, + }, + { + "id": "Reactome:R-GGA-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:9031", + "namespace": "Reactome", + "has_phenotype_count": 0, + }, + { + "id": "Reactome:R-SSC-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:9823", + "namespace": "Reactome", + "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", + "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:0007600", @@ -2552,43 +3765,893 @@ def search_response(): "has_phenotype_count": 0, }, { - "id": "MONDO:0060779", - "category": "biolink:Disease", - "name": "acquired Fanconi syndrome", - "description": "Fanconi Syndrome caused by exposure to noxious agents.", - "provided_by": "phenio_nodes", - "synonym": ["acquired Fanconi syndrome"], - "namespace": "MONDO", + "id": "Reactome:R-CEL-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:6239", + "namespace": "Reactome", "has_phenotype_count": 0, }, { - "id": "Reactome:R-BTA-6783310", + "id": "Reactome:R-MMU-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9913", + "in_taxon": "NCBITaxon:10090", "namespace": "Reactome", "has_phenotype_count": 0, }, { - "id": "Reactome:R-CFA-6783310", + "id": "Reactome:R-RNO-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9615", + "in_taxon": "NCBITaxon:10116", "namespace": "Reactome", "has_phenotype_count": 0, }, { - "id": "GO:0043240", - "category": "biolink:MacromolecularComplex", - "name": "Fanconi anaemia nuclear complex", - "description": "A protein complex composed of the Fanconi anaemia (FA) proteins including A, C, E, G and F (FANCA-F). Functions in the activation of the downstream protein FANCD2 by monoubiquitylation, and is essential for protection against chromosome breakage.", - "provided_by": "phenio_nodes", - "synonym": ["FA complex", "FA core complex", "FA nuclear complex", "Fanconi anaemia complex"], - "namespace": "GO", + "id": "Reactome:R-BTA-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:9913", + "namespace": "Reactome", "has_phenotype_count": 0, }, + { + "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", + "synonym": [ + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome", + ], + "namespace": "MONDO", + 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"UBERON:0007684", + "GO:0008150", + "UBERON:0001004", + "UBERON:0000475", + "UPHENO:0080658", + "UPHENO:0004536", + "UBERON:0001285", + "UPHENO:0082540", + "CHEBI:26020", + "BFO:0000040", + "HP:0001939", + "UPHENO:0082541", + "UPHENO:0001005", + "HP:0000118", + "UPHENO:0082875", + "UBERON:0003914", + "CHEBI:23367", + "HP:0002659", + "UPHENO:0048711", + "UPHENO:0002642", + "UBERON:0000949", + "UPHENO:0051670", + "UBERON:0013702", + "UPHENO:0068538", + "UPHENO:0075159", + "UPHENO:0076692", + "UPHENO:0077820", + "BFO:0000020", + "GO:1901615", + "UPHENO:0068104", + "HP:0011849", + "UPHENO:0078589", + "UPHENO:0080638", + "UPHENO:0002536", + "UPHENO:0051763", + "UBERON:0001062", + "UPHENO:0046348", + "HP:0000818", + "CHEBI:138675", + "BFO:0000001", + "CHEBI:24651", + "UPHENO:0051739", + "UPHENO:0081544", + "UBERON:0009773", + "HP:0012531", + "UPHENO:0034351", + "UPHENO:0068169", + "HP:0000938", + "UBERON:0004111", + "UPHENO:0034253", + "HP:0000124", + "UBERON:0001008", + "UPHENO:0046291", + "UBERON:8450002", + "CHEBI:33259", + "CHEBI:33635", + "UPHENO:0068247", + "GO:0032501", + "UPHENO:0066927", + "CHEBI:26191", + "UPHENO:0002332", + "CHEBI:72695", + "UPHENO:0081581", + "HP:0002653", + "UPHENO:0082943", + "UBERON:0000465", + "HP:0011843", + "UBERON:0006555", + ], + "has_phenotype_closure_label": [ + "abnormal urine calcium atom level", + "main group element atom", + "metal atom", + "s-block element atom", + "abnormal independent continuant calcium atom level", + "alkaline earth metal atom", + "increased level of calcium atom in independent continuant", + "Abnormality of urine calcium concentration (HPO)", + "Decreased glomerular filtration rate (HPO)", + "Pain (HPO)", + "abnormal calcium atom level", + "decreased height of the multicellular organism", + "delayed biological_process", + "abnormal size of anatomical entity", + "decreased size of the multicellular organism", + "delayed growth", + "abnormal blood protein polypeptide chain level", + "biomacromolecule", + "Alkalemia (HPO)", + "protein", + "Acute phase response (HPO)", + "amino acid chain", + "increased level of chemical entity in blood plasma", + "increased level of nitrogen molecular entity in blood", + "Azotemia (HPO)", + "abnormal blood serum chemical entity level", + "parathyroid hormone", + "abnormal protein level", + "calcium atom", + "Elevated circulating parathyroid hormone level (HPO)", + "abnormal role blood serum level", + "abnormal acid bodily fluid level", + "Abnormal homeostasis (HPO)", + "abnormal blood nitrogen molecular entity level", + "Alkalosis (HPO)", + "glucose", + "aldohexose", + "abnormal independent continuant glucose level", + "monosaccharide", + "increased level of glucose in independent continuant", + "increased level of calcium atom in urine", + "carbohydrates and carbohydrate derivatives", + "abnormal urine glucose level", + "increased level of monosaccharide in urine", + "Abnormal circulating protein concentration (HPO)", + "increased level of monosaccharide in independent continuant", + "Abnormal urine protein level (HPO)", + "amide", + "peptide", + "carboxamide", + "protein polypeptide chain", + "abnormal independent continuant parathyroid hormone level", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in independent continuant", + "increased blood serum base level", + "increased level of parathyroid hormone in blood", + "Abnormal blood gas level (HPO)", + "Abnormal metabolism (HPO)", + "cyclic compound", + "abnormal role blood level", + "abnormal vitamin D level", + "abnormal hormone blood level", + "abnormal lipid metabolic process", + "increased independent continuant hormone level", + "hexose", + "increased level of lipid in independent continuant", + "polyol", + "endocrine system", + "calcitriol", + "seco-steroid", + "Abnormal circulating hormone concentration (HPO)", + "organic cyclic compound", + "glandular system", + "increased level of protein in blood", + "Hyperlipidemia (HPO)", + "abnormal independent continuant lipid level", + "hydroxy steroid", + "Abnormality of the respiratory system (HPO)", + "hydroxy seco-steroid", + "abnormal hormone independent continuant level", + "increased level of protein", + "triol", + "Abnormality of the endocrine system (HPO)", + "vitamin D metabolic process", + "aldose", + "polypeptide", + "hydroxycalciol", + "fat-soluble vitamin metabolic process", + "atom", + "organic cyclic compound metabolic process", + "lipid metabolic process", + "vitamin metabolic process", + "abnormal blood gas molecular entity level", + "information biomacromolecule", + "increased bodily fluid role level", + "abnormal metabolite independent continuant level", + "non-connected functional system", + "increased blood role level", + "increased level of vitamin D", + "abnormal respiratory system", + "abnormal vitamin metabolic process", + "organic substance metabolic process", + "abnormal role bodily fluid level", + "abnormal independent continuant carboxylic acid level", + "vitamin D", + "abnormal independent continuant nitrogen molecular entity level", + "hydrogen molecular entity", + "growth", + "hydroxides", + "Growth delay (HPO)", + "carbon group molecular entity", + "organic molecule", + "primary amide", + "Abnormal urine metabolite level (HPO)", + "carbon oxoacid", + "organooxygen compound", + "heteroorganic entity", + "Constitutional symptom (HPO)", + "organonitrogen compound", + "Organic aciduria (HPO)", + "increased level of organic molecular entity in independent continuant", + "increased level of chemical entity in urine", + "mesoderm-derived structure", + "increased level of carboxylic acid in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "nitrogen molecular entity", + "organochalcogen compound", + "abnormality of respiratory system physiology", + "oxygen molecular entity", + "increased level of glucose in urine", + "Abnormal urine phosphate concentration (HPO)", + "increased level of organic acid in independent continuant", + "increased level of amino acid in urine", + "abnormal acid independent continuant level", + "abnormal blood lipid level", + "oxoacid", + "Hyperproteinemia (HPO)", + "abnormal role independent continuant level", + "bone element", + "abnormal urine amino acid level", + "increased level of organic acid in urine", + "Recurrent fractures (HPO)", + "compound organ", + "increased bodily fluid base level", + "carbohydrate", + "abnormal endocrine system", + "homeostatic process", + "abnormal role urine level", + "renal tubule", + "uriniferous tubule", + "Abnormality of the kidney (HPO)", + "organism subdivision", + "Abnormal glomerular filtration rate (HPO)", + "abnormality of kidney physiology", + "increased level of nitrogen molecular entity in independent continuant", + "Abnormal circulating metabolite concentration (HPO)", + "organic molecular entity", + "nephron", + "Proximal tubulopathy (HPO)", + "Decreased anatomical entity mass density", + "abdomen element", + "nephron tubule", + "anatomical conduit", + "Abnormality of vitamin D metabolism (HPO)", + "chalcogen molecular entity", + "cavitated compound organ", + "gas molecular entity", + "abnormal kidney", + "Short stature (HPO)", + "phosphorus oxoacid derivative", + "epithelium", + "Rickets (HPO)", + "main body axis", + "subdivision of organism along main body axis", + "kidney", + "increased independent continuant base level", + "excretory tube", + "upper urinary tract", + "epithelial tube", + "haemolymphatic fluid", + "hematopoietic system", + "hemolymphoid system", + "Generalized aminoaciduria (HPO)", + "Abnormal urine pH (HPO)", + "organic hydroxy compound metabolic process", + "abnormal blood chemical entity level", + "decreased height of the anatomical entity", + "organic oxo compound", + "Abnormality of blood and blood-forming tissues (HPO)", + "D3 vitamins", + "ion", + "abnormal independent continuant protein level", + "subdivision of trunk", + "elemental molecular entity", + "material entity", + "Abnormal blood phosphate concentration (HPO)", + "inorganic ion homeostasis", + "increased blood serum role level", + "abnormal blood phosphate level", + "increased independent continuant acid level", + "kidney epithelium", + "abnormally decreased functionality of the anatomical entity", + "Abnormal blood ion concentration (HPO)", + "nephron epithelium", + "abnormal independent continuant monoatomic ion level", + "abnormal metabolic process", + "abdomen", + "abnormal phosphate ion homeostasis", + "p-block molecular entity", + "abnormal urine phosphate level", + "abnormal hematopoietic system", + "molecule", + "increased level of lipid", + "urine", + "organism substance", + "increased level of carboxylic acid in urine", + "abnormality of multicellular organism height", + "increased level of protein polypeptide chain in urine", + "increased level of calcitriol in blood", + "anatomical system", + "abnormal independent continuant chemical entity level", + "abnormal blood monoatomic ion level", + "phosphate ion homeostasis", + "decreased level of chemical entity in independent continuant", + "anatomical entity", + "monoatomic ion", + "High serum calcitriol (HPO)", + "increased level of chemical entity", + "increased level of amino acid in independent continuant", + "Abnormal renal physiology (HPO)", + "increased independent continuant role level", + "monoatomic entity", + "Hypercalciuria (HPO)", + "Abnormal respiratory system physiology (HPO)", + "Abnormality of vitamin metabolism (HPO)", + "blood", + "organ system subdivision", + "decreased size of the anatomical entity", + "Abnormal urine carboxylic acid level (HPO)", + "Hypophosphatemia (HPO)", + "musculoskeletal system", + "Osteopenia (HPO)", + "multicellular organismal process", + "increased level of parathyroid hormone in independent continuant", + "Abnormal urinary electrolyte concentration (HPO)", + "pnictogen molecular entity", + "Bone pain (HPO)", + "skeletal element", + "organ", + "abnormal anatomical entity", + "blood plasma", + "chemical homeostasis", + "Abnormality of the skeletal system (HPO)", + "Osteomalacia (HPO)", + "Abnormal skeletal morphology (HPO)", + "abnormally decreased functionality of the nephron tubule", + "abnormal blood oxygen molecular entity level", + "Reduced bone mineral density (HPO)", + "abnormal renal system", + "phenotype", + "abnormal independent continuant amino acid level", + "Elevated urinary carboxylic acid (HPO)", + "Abnormal blood oxygen level (HPO)", + "occurrent", + "abnormal skeletal system morphology", + "abnormal upper urinary tract", + "specifically dependent continuant", + "blood serum", + "organic polycyclic compound", + "abnormal bone element mass density", + "primary metabolic process", + "abnormal anatomical entity morphology", + "abnormal biological_process", + "ossification", + "anatomical entity dysfunction in independent continuant", + "respiratory system", + "Abnormality of urine homeostasis (HPO)", + "Abnormality of bone mineral density (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "increased level of chemical entity in blood serum", + "abnormal independent continuant carbohydrate level", + "amino acid", + "abnormality of anatomical entity physiology", + "steroid metabolic process", + "Abnormality of metabolism/homeostasis (HPO)", + "trunk region element", + "decreased level of chemical entity", + "decreased level of chemical entity in blood", + "Abnormal bone ossification (HPO)", + "multicellular organism", + "Aminoaciduria (HPO)", + "abdominal segment of trunk", + "abnormal independent continuant oxygen molecular entity level", + "oxoacid derivative", + "Abnormality of the genitourinary system (HPO)", + "protein-containing material entity", + "abnormal independent continuant phosphate level", + "Growth abnormality (HPO)", + "abnormality of musculoskeletal system physiology", + "Abnormality of the urinary system (HPO)", + "increased level of protein in independent continuant", + "Glycosuria (HPO)", + "tube", + "abnormal phosphate level", + "Abnormality of body height (HPO)", + "organic hydroxy compound", + "All (HPO)", + "Phenotypic abnormality (HPO)", + "s-block molecular entity", + "genitourinary system", + "abnormality of anatomical entity height", + "excretory system", + "biological_process", + "continuant", + "Abnormality of the musculoskeletal system (HPO)", + "abnormal genitourinary system", + "main group molecular entity", + "polyatomic entity", + "Abnormal circulating lipid concentration (HPO)", + "Abnormality of the upper urinary tract (HPO)", + "material anatomical entity", + "Increased susceptibility to fractures (HPO)", + "abnormal vitamin D metabolic process", + "entity", + "abnormal lipid level", + "body proper", + "abnormal anatomical entity mass density", + "macromolecule", + "Abnormality of the urinary system physiology (HPO)", + "Renal tubular dysfunction (HPO)", + "phosphorus molecular entity", + "abnormal growth", + "increased level of lipid in blood", + "Abnormality of musculoskeletal physiology (HPO)", + "excreta", + "abnormal multicellular organism chemical entity level", + "increased level of chemical entity in independent continuant", + "skeletal system", + "carbonyl compound", + "multicellular anatomical structure", + "trunk", + "abnormal amino acid level", + "Abnormal circulating nitrogen compound concentration (HPO)", + "Proteinuria (HPO)", + "carboxylic acid", + "phosphoric acid derivative", + "increased level of chemical entity in bodily fluid", + "phosphorus oxoacids and derivatives", + "bodily fluid", + "Abnormal bone structure (HPO)", + "increased level of parathyroid hormone in blood serum", + "abnormal phenotype by ontology source", + "quality", + "process", + "polycyclic compound", + "abnormal urine chemical entity level", + "abnormal blood parathyroid hormone level", + "Phenotypic abnormality", + "metabolic process", + "decreased level of phosphate in blood", + "organic amino compound", + "lateral structure", + "increased level of chemical entity in blood", + "abnormal multicellular organism morphology", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "phosphate", + "tissue", + "abnormal chemical entity level", + "disconnected anatomical group", + "molecular entity", + "abnormal blood plasma chemical entity level", + "Decreased bone element mass density", + "abnormality of renal system physiology", + "Renal phosphate wasting (HPO)", + "abdominal segment element", + "increased level of calcitriol in independent continuant", + "abnormal independent continuant gas molecular entity level", + "chemical entity", + "organ part", + "organic acid", + "heteroatomic molecular entity", + "anatomical structure", + "Renal insufficiency (HPO)", + "independent continuant", + "abnormal skeletal system", + "abnormal size of multicellular organism", + "small molecule metabolic process", + "renal system", + "steroid", + "phenotype by ontology source", + "Abnormality of acid-base homeostasis (HPO)", + "Aciduria (HPO)", + "lipid", + "decreased level of phosphate in independent continuant", + ], + }, ], }, "facet_counts": {"facet_fields": {}, "facet_queries": {}}, diff --git a/frontend/fixtures/association-counts.json b/frontend/fixtures/association-counts.json index 9c5fea71f..e58e862bc 100644 --- a/frontend/fixtures/association-counts.json +++ b/frontend/fixtures/association-counts.json @@ -2,12 +2,12 @@ "items": [ { "label": "Phenotypes", - "count": 3875, + "count": 3873, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { "label": "Causal Genes", - "count": 125, + "count": 124, "category": "biolink:CausalGeneToDiseaseAssociation" }, { diff --git a/frontend/fixtures/association-table.json b/frontend/fixtures/association-table.json index 0e5311055..f6d4eb1de 100644 --- a/frontend/fixtures/association-table.json +++ b/frontend/fixtures/association-table.json @@ -1,119 +1,293 @@ { "limit": 5, "offset": 0, - "total": 3875, + "total": 3873, "items": [ { - "id": "uuid:cc29dff0-ca9d-11ee-a7f0-61df2fcac487", + "id": "uuid:9bf8349e-d820-11ee-baca-e629eea977b9", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0020793", - "original_subject": "OMIM:164310", + "subject": "MONDO:0013049", + "original_subject": "OMIM:612937", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ + "MONDO:0016333", + "BFO:0000001", "MONDO:0005071", + "MONDO:0005267", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0019052", + "MONDO:0005500", + "MONDO:0004994", + "MONDO:0700223", + "MONDO:0005021", + "MONDO:0018276", + "MONDO:0024322", "BFO:0000002", "BFO:0000016", - "BFO:0000001", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", "MONDO:0003847", - "MONDO:0700223", - "MONDO:0020793", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0018949", + "MONDO:0003939", + "MONDO:0002320", "MONDO:0000001", - "MONDO:0025193", + "MONDO:0005217", + "MONDO:0015286", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0020120", + "MONDO:0004995", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0000591", + "MONDO:0019950", + "MONDO:0005336", + "MONDO:0017749", "BFO:0000020", - "MONDO:0700096", - "MONDO:0002081" + "MONDO:0002081", + "MONDO:0005066", + "MONDO:0013049", + "MONDO:0700096" ], - "subject_label": "oculopharyngodistal myopathy 1", + "subject_label": "DPM3-congenital disorder of glycosylation", "subject_closure_label": [ - "oculopharyngodistal myopathy 1", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "disposition", - "muscle tissue disorder", + "DPM3-congenital disorder of glycosylation", + "familial cardiomyopathy", + "dilated cardiomyopathy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "disease", + "heart disorder", "hereditary skeletal muscle disorder", + "specifically dependent continuant", + "metabolic disease", "human disease", - "hereditary disease", - "continuant", - "skeletal muscle disorder", - "oculopharyngodistal myopathy", + "disease", + "inborn errors of metabolism", + "congenital disorder of glycosylation type I", + "disorder of glycosylation", + "realizable entity", + "disposition", + "congenital muscular dystrophy", "muscular dystrophy", - "specifically dependent continuant", - "distal myopathy" + "cardiovascular disorder", + "familial dilated cardiomyopathy", + "disease", + "intrinsic cardiomyopathy", + "entity", + "continuant", + "myopathy", + "congenital nervous system disorder", + "cardiomyopathy", + "musculoskeletal system disorder", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy", + "disorder of multiple glycosylation", + "hereditary disease", + "muscle tissue disorder" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0002460", + "object": "HP:0003236", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "UPHENO:0002816", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0080555", - "PATO:0000001", "UPHENO:0001002", - "BFO:0000002", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0075696", - "UPHENO:0082875", - "HP:0000118", - "HP:0003011", + "UBERON:0000468", "UPHENO:0002332", - "HP:0002460", + "HP:0002086", + "UBERON:0010000", + "GO:1990234", + "CHEBI:33839", + "CHEBI:33675", + "CHEBI:138675", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", + "HP:0000001", + "HP:0011021", + "UPHENO:0077825", + "HP:0012415", + "UPHENO:0051612", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "GO:1902494", + "CHEBI:36357", + "CHEBI:33579", + "BFO:0000002", + "UPHENO:0004459", "BFO:0000001", - "UPHENO:0002320", + "CHEBI:23367", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0000178", + "UBERON:0001004", + "GO:0061695", + "CHEBI:15841", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:16670", + "HP:0004364", + "UPHENO:0082875", "UPHENO:0001005", - "HP:0001324", + "UPHENO:0046284", + "HP:0040081", + "UPHENO:0001003", + "BFO:0000015", + "BFO:0000004", + "UPHENO:0001001", + "UPHENO:0002536", + "GO:0008152", + "UPHENO:0077817", + "UPHENO:0076289", + "UPHENO:0002448", + "HP:0010876", + "UPHENO:0077820", + "HP:0500165", + "PATO:0000001", + "HP:0002795", + "UPHENO:0051763", + "HP:0000118", + "UPHENO:0077829", + "HP:0001939", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "GO:0005575", + "CHEBI:24431", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0075696", "BFO:0000020", - "UPHENO:0080556", - "HP:0011804" + "UPHENO:0076286", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0004536", + "UPHENO:0051668", + "HP:0001871", + "UPHENO:0077821", + "UPHENO:0051801", + "BFO:0000001", + "UBERON:0001062", + "GO:0032991", + "UBERON:0000467", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256" ], - "object_label": "Distal muscle weakness", + "object_label": "Elevated circulating creatine kinase concentration (HPO)", "object_closure_label": [ - "Abnormality of the musculature", "abnormal anatomical entity", - "abnormality of muscle organ physiology", - "Phenotypic abnormality", - "Distal muscle weakness", - "Abnormal muscle physiology", - "Muscle weakness", - "abnormal musculature", - "phenotype", - "abnormal phenotype by ontology source", "Phenotypic abnormality", - "decreased anatomical entity strength", - "entity", "abnormality of anatomical entity physiology", - "decreased muscle organ strength", - "Abnormality of the musculoskeletal system", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration (HPO)", + "process", + "independent continuant", + "protein-containing complex", + "abnormal respiratory system", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality (HPO)", + "abnormal chemical entity level", + "abnormal anatomical entity", + "cellular_component", + "chemical entity", + "material anatomical entity", + "protein-containing material entity", + "transferase complex", + "macromolecule", + "p-block molecular entity", + "gas molecular entity", + "abnormal blood gas molecular entity level", + "specifically dependent continuant", + "Abnormal circulating creatine kinase concentration (HPO)", "phenotype by ontology source", + "entity", + "Elevated circulating creatine kinase concentration (HPO)", + "abnormal blood oxygen molecular entity level", + "abnormal role independent continuant level", + "abnormality of respiratory system physiology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the respiratory system (HPO)", + "occurrent", + "continuant", + "molecular entity", + "anatomical structure", + "organism substance", + "blood", + "anatomical system", + "mesoderm-derived structure", + "bodily fluid", + "phenotype", + "abnormal hematopoietic system", "quality", - "All", + "Abnormal respiratory system physiology (HPO)", + "multicellular anatomical structure", + "creatine kinase complex", + "protein polypeptide chain", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "carboxamide", + "organic amino compound", + "primary amide", + "metabolic process", + "peptide", + "Abnormal circulating nitrogen compound concentration (HPO)", "abnormality of anatomical entity physiology", - "abnormal anatomical entity", + "abnormal independent continuant oxygen molecular entity level", + "Abnormal circulating protein concentration (HPO)", + "abnormal independent continuant gas molecular entity level", + "multicellular organism", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "abnormal multicellular organism chemical entity level", "continuant", - "specifically dependent continuant" + "Abnormal blood oxygen level (HPO)", + "entity", + "biological_process", + "material entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "respiratory system", + "All (HPO)", + "Abnormality of circulating enzyme level (HPO)", + "abnormal phenotype by ontology source", + "abnormal role blood level", + "anatomical entity", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis (HPO)", + "Abnormal blood gas level (HPO)", + "abnormal blood protein polypeptide chain level", + "abnormal blood chemical entity level", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid" ], "object_taxon": null, "object_taxon_label": null, @@ -121,7 +295,7 @@ "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": null, "pathway": null, - "evidence_count": 4, + "evidence_count": 3, "has_evidence": ["ECO:0000269"], "has_evidence_links": [ { @@ -129,28 +303,28 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "grouping_key": "MONDO:0020793||biolink:has_phenotype|HP:0002460", + "has_count": 2, + "has_total": 2, + "has_percentage": 100.0, + "has_quotient": 1.0, + "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": ["PMID:21242490", "PMID:32493488", "PMID:31332380"], + "publications": ["PMID:19576565", "PMID:28803818"], "publications_links": [ { - "id": "PMID:21242490", - "url": "http://identifiers.org/pubmed/21242490" - }, - { - "id": "PMID:32493488", - "url": "http://identifiers.org/pubmed/32493488" + "id": "PMID:19576565", + "url": "http://identifiers.org/pubmed/19576565" }, { - "id": "PMID:31332380", - "url": "http://identifiers.org/pubmed/31332380" + "id": "PMID:28803818", + "url": "http://identifiers.org/pubmed/28803818" } ], - "frequency_qualifier": "HP:0040282", + "frequency_qualifier": null, "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, @@ -166,11 +340,11 @@ "qualifier_category": null, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": null, + "frequency_qualifier_namespace": null, + "frequency_qualifier_category": null, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": null, "onset_qualifier_namespace": null, "onset_qualifier_category": null, @@ -186,143 +360,170 @@ "stage_qualifier_category": null, "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], - "direction": "outgoing" + "direction": "outgoing", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:cc29e001-ca9d-11ee-a7f0-61df2fcac487", + "id": "uuid:9e32d674-d820-11ee-baca-e629eea977b9", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0020793", - "original_subject": "OMIM:164310", + "subject": "MONDO:0009676", + "original_subject": "OMIM:253601", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ + "MONDO:0006025", + "BFO:0000001", "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0700223", + "MONDO:0016145", "BFO:0000002", "BFO:0000016", - "BFO:0000001", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", "MONDO:0003847", - "MONDO:0700223", - "MONDO:0020793", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0018949", + "MONDO:0003939", + "MONDO:0015152", "MONDO:0000001", - "MONDO:0025193", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0020120", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0016971", + "MONDO:0005336", "BFO:0000020", + "MONDO:0002081", + "MONDO:0000429", + "MONDO:0016139", "MONDO:0700096", - "MONDO:0002081" + "MONDO:0009676" ], - "subject_label": "oculopharyngodistal myopathy 1", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", "subject_closure_label": [ - "oculopharyngodistal myopathy 1", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "disposition", - "muscle tissue disorder", + "autosomal genetic disease", + "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", + "hereditary skeletal muscle disorder", + "specifically dependent continuant", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", "disease", + "realizable entity", + "disposition", + "autosomal recessive limb-girdle muscular dystrophy type 2B", + "muscular dystrophy", + "disease", + "entity", + "continuant", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", "progressive muscular dystrophy", "musculoskeletal system disorder", - "disease", - "hereditary skeletal muscle disorder", - "human disease", + "qualitative or quantitative defects of dysferlin", "hereditary disease", - "continuant", - "skeletal muscle disorder", - "oculopharyngodistal myopathy", - "muscular dystrophy", - "specifically dependent continuant", - "distal myopathy" + "muscle tissue disorder" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0002015", + "object": "HP:0003701", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "UPHENO:0002471", - "HP:0025270", - "BFO:0000001", - "UPHENO:0002433", - "HP:0025032", + "UPHENO:0001002", + "HP:0001324", "UPHENO:0002536", + "BFO:0000001", + "UBERON:0000468", + "UBERON:0011216", + "UPHENO:0002332", + "HP:0011804", + "UBERON:0010000", + "UBERON:0000383", + "UBERON:0001015", "HP:0000001", - "UPHENO:0002725", - "HP:0011793", - "PATO:0000001", - "HP:0011024", - "UPHENO:0002443", - "UPHENO:0001003", - "UPHENO:0075696", - "HP:0012719", "UPHENO:0001005", + "BFO:0000040", + "UBERON:0001062", "BFO:0000002", - "HP:0002664", + "BFO:0000001", + "UBERON:0000061", "UPHENO:0082875", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "BFO:0000004", + "UPHENO:0001001", + "HP:0003701", + "UPHENO:0080555", + "PATO:0000001", + "UPHENO:0002320", "HP:0000118", - "HP:0025031", - "UPHENO:0002474", - "HP:0012638", - "UPHENO:0002833", - "HP:0002015", - "UPHENO:0001002", - "UPHENO:0002332", - "UPHENO:0004523", + "UPHENO:0002816", + "UBERON:0000465", + "UPHENO:0075696", "BFO:0000020", - "HP:0000707" + "BFO:0000002", + "UBERON:0001630", + "UPHENO:0080556", + "UBERON:0000467", + "UBERON:0005090", + "UBERON:0000062" ], - "object_label": "Dysphagia", + "object_label": "Proximal muscle weakness (HPO)", "object_closure_label": [ - "abnormal digestive system", - "Dysphagia", - "Phenotypic abnormality", - "Neoplasm", - "entity", - "Abnormality of the digestive system", - "abnormality of esophagus physiology", - "Abnormal nervous system physiology", "abnormal anatomical entity", - "abnormality of alimentary part of gastrointestinal system physiology", - "Abnormal esophagus physiology", "Phenotypic abnormality", - "Neoplasm by anatomical site", - "abnormal nervous system", - "Abnormality of the gastrointestinal tract", - "abnormality of digestive system physiology", - "abnormality of nervous system physiology", - "Abnormality of digestive system physiology", - "phenotype", - "abnormal alimentary part of gastrointestinal system", + "Muscle weakness (HPO)", "abnormality of anatomical entity physiology", - "Functional abnormality of the gastrointestinal tract", + "independent continuant", + "Phenotypic abnormality (HPO)", + "Abnormality of the musculature (HPO)", + "material anatomical entity", + "abnormality of muscle organ physiology", "abnormal phenotype by ontology source", - "continuant", - "Abnormality of the nervous system", + "specifically dependent continuant", + "Abnormality of the musculoskeletal system (HPO)", "phenotype by ontology source", + "decreased muscle organ strength", + "Abnormal muscle physiology (HPO)", + "continuant", + "anatomical structure", + "anatomical system", + "muscle structure", + "phenotype", "quality", - "All", - "abnormality of anatomical entity physiology", + "multicellular anatomical structure", "abnormal anatomical entity", - "specifically dependent continuant" - ], - "object_taxon": null, - "object_taxon_label": null, + "abnormality of anatomical entity physiology", + "abnormal musculature", + "entity", + "multicellular organism", + "organ system subdivision", + "continuant", + "entity", + "material entity", + "anatomical entity", + "musculature of body", + "musculature", + "All (HPO)", + "decreased anatomical entity strength", + "organ", + "Proximal muscle weakness (HPO)", + "muscle organ" + ], + "object_taxon": null, + "object_taxon_label": null, "primary_knowledge_source": "infores:hpo-annotations", "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": null, "pathway": null, - "evidence_count": 4, + "evidence_count": 3, "has_evidence": ["ECO:0000269"], "has_evidence_links": [ { @@ -330,28 +531,28 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "grouping_key": "MONDO:0020793||biolink:has_phenotype|HP:0002015", + "has_count": 32, + "has_total": 32, + "has_percentage": 100.0, + "has_quotient": 1.0, + "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": ["PMID:21242490", "PMID:32493488", "PMID:31332380"], + "publications": ["PMID:9731527", "PMID:9009996"], "publications_links": [ { - "id": "PMID:21242490", - "url": "http://identifiers.org/pubmed/21242490" - }, - { - "id": "PMID:32493488", - "url": "http://identifiers.org/pubmed/32493488" + "id": "PMID:9731527", + "url": "http://identifiers.org/pubmed/9731527" }, { - "id": "PMID:31332380", - "url": "http://identifiers.org/pubmed/31332380" + "id": "PMID:9009996", + "url": "http://identifiers.org/pubmed/9009996" } ], - "frequency_qualifier": "HP:0040282", + "frequency_qualifier": null, "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, @@ -367,11 +568,11 @@ "qualifier_category": null, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040282", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequent", "Frequency", "All"], + "frequency_qualifier_label": null, + "frequency_qualifier_namespace": null, + "frequency_qualifier_category": null, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": null, "onset_qualifier_namespace": null, "onset_qualifier_category": null, @@ -387,147 +588,290 @@ "stage_qualifier_category": null, "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], - "direction": "outgoing" + "direction": "outgoing", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:c9a9b498-ca9d-11ee-a7f0-61df2fcac487", + "id": "uuid:9ac938de-d820-11ee-baca-e629eea977b9", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0013049", - "original_subject": "OMIM:612937", + "subject": "MONDO:0011968", + "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ + "MONDO:0006025", + "MONDO:0016333", "MONDO:0005071", - "BFO:0000016", - "BFO:0000001", - "MONDO:0013049", - "MONDO:0015286", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0018276", + "MONDO:0005267", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0004994", + "MONDO:0700223", "BFO:0000002", + "MONDO:0005021", + "BFO:0000016", "MONDO:0003847", - "MONDO:0700223", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0015152", "MONDO:0000001", + "MONDO:0005217", + "MONDO:0016141", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019052", - "MONDO:0019950", - "MONDO:0024322", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0004995", + "MONDO:0016140", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0000591", + "MONDO:0016971", + "MONDO:0011968", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", "MONDO:0002081", - "MONDO:0017749", - "MONDO:0005500", - "MONDO:0005066" + "MONDO:0000429", + "MONDO:0016139", + "MONDO:0700096" ], - "subject_label": "DPM3-congenital disorder of glycosylation", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ - "disorder of glycosylation", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "disorder of multiple glycosylation", - "entity", - "congenital muscular dystrophy", - "DPM3-congenital disorder of glycosylation", - "disposition", - "muscle tissue disorder", - "congenital disorder of glycosylation", + "autosomal genetic disease", + "familial cardiomyopathy", + "dilated cardiomyopathy", + "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", - "congenital disorder of glycosylation type I", - "metabolic disease", - "muscular dystrophy-dystroglycanopathy", - "disease", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", + "heart disorder", "hereditary skeletal muscle disorder", + "continuant", + "specifically dependent continuant", + "qualitative or quantitative defects of alpha-sarcoglycan", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", - "hereditary disease", - "skeletal muscle disorder", - "inborn errors of metabolism", + "disease", + "realizable entity", + "disposition", "muscular dystrophy", - "continuant", - "specifically dependent continuant" + "cardiovascular disorder", + "sarcoglycanopathy", + "familial dilated cardiomyopathy", + "disease", + "autosomal recessive limb-girdle muscular dystrophy type 2D", + "intrinsic cardiomyopathy", + "autosomal recessive disease", + "myopathy", + "entity", + "autosomal recessive limb-girdle muscular dystrophy", + "cardiomyopathy", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "hereditary disease", + "muscle tissue disorder" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0003236", + "object": "HP:0008981", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "UPHENO:0051763", + "HP:0008981", + "UPHENO:0084535", + "UPHENO:0001002", + "HP:0030236", + "BFO:0000001", + "UBERON:0000468", + "UBERON:0011216", + "UBERON:0014892", + "UPHENO:0020584", + "BFO:0000001", + "UBERON:0010000", + "UBERON:0010707", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0000978", + "UBERON:0002529", + "UBERON:0007270", + "UBERON:0004480", + "HP:0000001", + "UPHENO:0002644", + "HP:0009127", + "UPHENO:0075195", + "UPHENO:0003070", + "UPHENO:0002830", + "BFO:0000040", + "UBERON:0001062", + "UBERON:0015212", + "UBERON:0007271", + "UBERON:0014792", + "UBERON:0003661", + "UBERON:0010890", + "HP:0011805", + "HP:0003712", "BFO:0000002", - "UPHENO:0051668", - "UPHENO:0046284", + "UPHENO:0002647", + "UBERON:0000061", + "UBERON:0004708", + "UBERON:0010709", + "UBERON:0003823", + "UBERON:0004466", + "UBERON:0004256", + "UPHENO:0001005", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "HP:0040064", + "PR:000050567", + "UBERON:0002101", + "UBERON:0004709", + "UBERON:0006067", + "UPHENO:0001001", + "UPHENO:0065599", + "UPHENO:0015280", "UPHENO:0002536", - "HP:0000001", - "HP:0011021", + "UPHENO:0076692", + "UBERON:0006058", + "UBERON:0010538", + "UBERON:0003663", + "UBERON:0014795", + "HP:0002981", + "UPHENO:0075777", + "HP:0008968", + "HP:0001437", "PATO:0000001", - "HP:0040081", - "UPHENO:0001003", - "UPHENO:0076289", - "UPHENO:0001005", - "UPHENO:0077821", - "UPHENO:0081547", - "UPHENO:0077826", - "HP:0032180", - "HP:0004364", + "UBERON:0000154", + "UBERON:0000026", + "UBERON:0010758", + "HP:0002814", "HP:0000118", - "UPHENO:0051801", - "UPHENO:0051612", - "UPHENO:0051804", - "HP:0001871", - "UPHENO:0004459", - "HP:0010876", - "UPHENO:0001002", + "UPHENO:0002816", + "UPHENO:0019778", + "UPHENO:0076710", + "BFO:0000004", + "UBERON:0000465", + "RO:0002577", + "UPHENO:0075696", + "HP:0001430", "BFO:0000020", - "UPHENO:0076286", - "HP:0001939", - "BFO:0000001", - "HP:0003236" + "UPHENO:0081581", + "UPHENO:0001072", + "UPHENO:0084489", + "BFO:0000002", + "UBERON:0001630", + "UBERON:0002103", + "UPHENO:0075952", + "UPHENO:0084715", + "UBERON:0000467", + "UBERON:0018254", + "UBERON:0005090", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0008784", + "UBERON:0002471", + "UBERON:0004482", + "UBERON:0001383" ], - "object_label": "Elevated circulating creatine kinase concentration", + "object_label": "Calf muscle hypertrophy (HPO)", "object_closure_label": [ - "abnormal independent continuant nitrogen molecular entity level", - "Abnormality of metabolism/homeostasis", - "abnormal blood protein polypeptide chain level", - "abnormal blood chemical entity level", - "abnormal independent continuant chemical entity level", "abnormal anatomical entity", - "abnormal multicellular organism chemical entity level", "Phenotypic abnormality", - "Elevated circulating creatine kinase concentration", - "Phenotypic abnormality", - "abnormal chemical entity level", - "phenotype", - "abnormal role blood level", - "entity", - "Abnormal circulating nitrogen compound concentration", - "abnormal phenotype by ontology source", - "Abnormality of blood and blood-forming tissues", - "Abnormal circulating creatine kinase concentration", + "abnormal anatomical entity morphology", + "abnormal muscle organ morphology", + "abnormal hindlimb zeugopod", + "Phenotypic abnormality (HPO)", + "Abnormality of the musculature (HPO)", + "abnormal anatomical entity", + "abnormal leg", + "material anatomical entity", + "system", + "limb", + "pelvic appendage", + "appendage girdle complex", + "posterior region of body", + "appendage", + "subdivision of organism along appendicular axis", + "Abnormality of the lower limb (HPO)", + "Abnormality of the musculature of the limbs (HPO)", + "specifically dependent continuant", + "Abnormality of the musculoskeletal system (HPO)", "phenotype by ontology source", + "hypertrophic multicellular anatomical structure", + "hindlimb muscle", + "pelvic appendage muscle", + "Abnormality of the calf (HPO)", + "abnormal anatomical entity morphology", + "continuant", + "anatomical structure", + "paired limb/fin", + "anatomical system", + "skeletal musculature", + "muscle structure", + "appendage musculature", + "musculature of pelvic complex", + "limb muscle", + "pelvic complex muscle", + "phenotype", + "Abnormal skeletal muscle morphology (HPO)", + "Skeletal muscle hypertrophy (HPO)", + "abnormally increased volume of anatomical entity", "quality", - "All", - "Abnormality of circulating enzyme level", + "independent continuant", + "multicellular anatomical structure", + "lower limb segment", + "zeugopod", + "musculature of lower limb", + "muscle of leg", + "Calf muscle hypertrophy (HPO)", + "hypertrophic pelvic complex muscle", + "increased size of the anatomical entity in independent continuant", + "abnormal size of anatomical entity", + "Abnormality of muscle size (HPO)", + "multi-limb segment region", + "paired limb/fin segment", + "hindlimb zeugopod", + "musculature of leg", + "hindlimb zeugopod muscle", + "Abnormality of the calf musculature (HPO)", + "abnormal musculature", + "entity", + "protein-containing material entity", + "multicellular organism", + "organ system subdivision", + "skeletal muscle organ, vertebrate", + "leg", + "limb segment", + "pelvic appendage musculature", + "musculature of limb", "continuant", - "abnormal hematopoietic system", - "abnormal independent continuant protein polypeptide chain level", - "abnormal role independent continuant level", - "specifically dependent continuant", - "Abnormal circulating protein concentration", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "Abnormal circulating metabolite concentration" + "Muscle hypertrophy of the lower extremities (HPO)", + "Abnormality of the musculature of the lower limbs (HPO)", + "material entity", + "anatomical entity", + "lateral structure", + "musculature of body", + "musculature", + "musculature of hindlimb zeugopod", + "All (HPO)", + "abnormal musculature of lower limb", + "abnormal phenotype by ontology source", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal multicellular organism morphology", + "increased size of the anatomical entity", + "Abnormality of limbs (HPO)", + "organism subdivision", + "organ", + "pelvic complex", + "abnormal hindlimb zeugopod muscle", + "abnormal muscle organ morphology", + "abnormal musculature of limb", + "abnormal limb", + "entity", + "muscle organ", + "hindlimb" ], "object_taxon": null, "object_taxon_label": null, @@ -543,24 +887,28 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", + "has_count": 5, + "has_total": 5, + "has_percentage": 100.0, + "has_quotient": 1.0, + "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": ["PMID:19576565", "PMID:28803818"], + "publications": ["PMID:8069911", "PMID:8538707"], "publications_links": [ { - "id": "PMID:19576565", - "url": "http://identifiers.org/pubmed/19576565" + "id": "PMID:8069911", + "url": "http://identifiers.org/pubmed/8069911" }, { - "id": "PMID:28803818", - "url": "http://identifiers.org/pubmed/28803818" + "id": "PMID:8538707", + "url": "http://identifiers.org/pubmed/8538707" } ], - "frequency_qualifier": "HP:0040280", + "frequency_qualifier": null, "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, @@ -576,11 +924,11 @@ "qualifier_category": null, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Obligate", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040279", "HP:0040280"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Obligate"], + "frequency_qualifier_label": null, + "frequency_qualifier_namespace": null, + "frequency_qualifier_category": null, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": null, "onset_qualifier_namespace": null, "onset_qualifier_category": null, @@ -596,127 +944,294 @@ "stage_qualifier_category": null, "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], - "direction": "outgoing" + "direction": "outgoing", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:cbe5576b-ca9d-11ee-a7f0-61df2fcac487", + "id": "uuid:9ac92a74-d820-11ee-baca-e629eea977b9", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009676", - "original_subject": "OMIM:253601", + "subject": "MONDO:0011968", + "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ + "MONDO:0006025", + "MONDO:0016333", "MONDO:0005071", + "MONDO:0005267", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0004994", + "MONDO:0700223", "BFO:0000002", + "MONDO:0005021", "BFO:0000016", - "BFO:0000001", - "MONDO:0006025", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0016145", "MONDO:0003847", - "MONDO:0700223", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0009676", - "MONDO:0000001", - "MONDO:0020121", - "MONDO:0016139", "MONDO:0003939", - "MONDO:0000429", - "MONDO:0020120", + "BFO:0000001", "MONDO:0015152", + "MONDO:0000001", + "MONDO:0005217", + "MONDO:0016141", + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0016140", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0000591", "MONDO:0016971", + "MONDO:0011968", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", - "MONDO:0002081" + "MONDO:0002081", + "MONDO:0000429", + "MONDO:0016139", + "MONDO:0700096" ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ - "autosomal genetic disease", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "disposition", - "muscle tissue disorder", + "autosomal genetic disease", + "familial cardiomyopathy", + "dilated cardiomyopathy", "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", - "qualitative or quantitative defects of dysferlin", + "heart disorder", + "hereditary skeletal muscle disorder", + "continuant", + "specifically dependent continuant", + "qualitative or quantitative defects of alpha-sarcoglycan", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "disease", + "realizable entity", + "disposition", + "muscular dystrophy", + "cardiovascular disorder", + "sarcoglycanopathy", + "familial dilated cardiomyopathy", "disease", + "autosomal recessive limb-girdle muscular dystrophy type 2D", + "intrinsic cardiomyopathy", "autosomal recessive disease", + "myopathy", + "entity", + "autosomal recessive limb-girdle muscular dystrophy", + "cardiomyopathy", "progressive muscular dystrophy", "musculoskeletal system disorder", - "autosomal recessive limb-girdle muscular dystrophy type 2B", - "autosomal recessive limb-girdle muscular dystrophy", - "disease", - "hereditary skeletal muscle disorder", - "human disease", "hereditary disease", - "continuant", - "skeletal muscle disorder", - "qualitative or quantitative protein defects in neuromuscular diseases", - "muscular dystrophy", - "specifically dependent continuant" + "muscle tissue disorder" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0003701", + "object": "HP:0003236", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "BFO:0000001", - "UPHENO:0002816", - "UPHENO:0002536", + "UPHENO:0001002", + "UBERON:0000468", + "UPHENO:0002332", + "HP:0002086", + "UBERON:0010000", + "GO:1990234", + "CHEBI:33839", + "CHEBI:33675", + "CHEBI:138675", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", "HP:0000001", - "UPHENO:0080555", - "PATO:0000001", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0075696", - "UPHENO:0001005", + "HP:0011021", + "UPHENO:0077825", + "HP:0012415", + "UPHENO:0051612", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "GO:1902494", + "CHEBI:36357", + "CHEBI:33579", "BFO:0000002", + "UPHENO:0004459", + "BFO:0000001", + "CHEBI:23367", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0000178", + "UBERON:0001004", + "GO:0061695", + "CHEBI:15841", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:16670", + "HP:0004364", "UPHENO:0082875", + "UPHENO:0001005", + "UPHENO:0046284", + "HP:0040081", + "UPHENO:0001003", + "BFO:0000015", + "BFO:0000004", + "UPHENO:0001001", + "UPHENO:0002536", + "GO:0008152", + "UPHENO:0077817", + "UPHENO:0076289", + "UPHENO:0002448", + "HP:0010876", + "UPHENO:0077820", + "HP:0500165", + "PATO:0000001", + "HP:0002795", + "UPHENO:0051763", "HP:0000118", - "HP:0003011", - "HP:0003701", - "UPHENO:0002332", - "UPHENO:0002320", - "UPHENO:0001002", - "HP:0001324", + "UPHENO:0077829", + "HP:0001939", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "GO:0005575", + "CHEBI:24431", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0075696", "BFO:0000020", - "UPHENO:0080556", - "HP:0011804" + "UPHENO:0076286", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0004536", + "UPHENO:0051668", + "HP:0001871", + "UPHENO:0077821", + "UPHENO:0051801", + "BFO:0000001", + "UBERON:0001062", + "GO:0032991", + "UBERON:0000467", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256" ], - "object_label": "Proximal muscle weakness", + "object_label": "Elevated circulating creatine kinase concentration (HPO)", "object_closure_label": [ - "Proximal muscle weakness", - "entity", - "Abnormality of the musculature", "abnormal anatomical entity", - "abnormality of muscle organ physiology", "Phenotypic abnormality", - "Abnormal muscle physiology", - "Phenotypic abnormality", - "Muscle weakness", - "abnormal musculature", - "phenotype", - "decreased anatomical entity strength", "abnormality of anatomical entity physiology", - "abnormal phenotype by ontology source", - "continuant", - "decreased muscle organ strength", - "Abnormality of the musculoskeletal system", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration (HPO)", + "process", + "independent continuant", + "protein-containing complex", + "abnormal respiratory system", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality (HPO)", + "abnormal chemical entity level", + "abnormal anatomical entity", + "cellular_component", + "chemical entity", + "material anatomical entity", + "protein-containing material entity", + "transferase complex", + "macromolecule", + "p-block molecular entity", + "gas molecular entity", + "abnormal blood gas molecular entity level", + "specifically dependent continuant", + "Abnormal circulating creatine kinase concentration (HPO)", "phenotype by ontology source", + "entity", + "Elevated circulating creatine kinase concentration (HPO)", + "abnormal blood oxygen molecular entity level", + "abnormal role independent continuant level", + "abnormality of respiratory system physiology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the respiratory system (HPO)", + "occurrent", + "continuant", + "molecular entity", + "anatomical structure", + "organism substance", + "blood", + "anatomical system", + "mesoderm-derived structure", + "bodily fluid", + "phenotype", + "abnormal hematopoietic system", "quality", - "All", + "Abnormal respiratory system physiology (HPO)", + "multicellular anatomical structure", + "creatine kinase complex", + "protein polypeptide chain", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "carboxamide", + "organic amino compound", + "primary amide", + "metabolic process", + "peptide", + "Abnormal circulating nitrogen compound concentration (HPO)", "abnormality of anatomical entity physiology", - "abnormal anatomical entity", - "specifically dependent continuant" + "abnormal independent continuant oxygen molecular entity level", + "Abnormal circulating protein concentration (HPO)", + "abnormal independent continuant gas molecular entity level", + "multicellular organism", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "abnormal multicellular organism chemical entity level", + "continuant", + "Abnormal blood oxygen level (HPO)", + "entity", + "biological_process", + "material entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "respiratory system", + "All (HPO)", + "Abnormality of circulating enzyme level (HPO)", + "abnormal phenotype by ontology source", + "abnormal role blood level", + "anatomical entity", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis (HPO)", + "Abnormal blood gas level (HPO)", + "abnormal blood protein polypeptide chain level", + "abnormal blood chemical entity level", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid" ], "object_taxon": null, "object_taxon_label": null, @@ -732,24 +1247,28 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", + "has_count": 5, + "has_total": 5, + "has_percentage": 100.0, + "has_quotient": 1.0, + "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": ["PMID:9731527", "PMID:9009996"], + "publications": ["PMID:8069911", "PMID:8538707"], "publications_links": [ { - "id": "PMID:9731527", - "url": "http://identifiers.org/pubmed/9731527" + "id": "PMID:8069911", + "url": "http://identifiers.org/pubmed/8069911" }, { - "id": "PMID:9009996", - "url": "http://identifiers.org/pubmed/9009996" + "id": "PMID:8538707", + "url": "http://identifiers.org/pubmed/8538707" } ], - "frequency_qualifier": "HP:0040280", + "frequency_qualifier": null, "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, @@ -765,11 +1284,11 @@ "qualifier_category": null, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Obligate", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040279", "HP:0040280"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Obligate"], + "frequency_qualifier_label": null, + "frequency_qualifier_namespace": null, + "frequency_qualifier_category": null, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": null, "onset_qualifier_namespace": null, "onset_qualifier_category": null, @@ -785,185 +1304,286 @@ "stage_qualifier_category": null, "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], - "direction": "outgoing" + "direction": "outgoing", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:c7f2d9af-ca9d-11ee-a7f0-61df2fcac487", + "id": "uuid:9d945170-d820-11ee-baca-e629eea977b9", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0011968", - "original_subject": "OMIM:608099", + "subject": "MONDO:0012127", + "original_subject": "OMIM:608807", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0005071", - "MONDO:0011968", - "BFO:0000016", - "MONDO:0016333", - "MONDO:0004994", - "MONDO:0005267", + "MONDO:0012127", "MONDO:0006025", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", + "BFO:0000001", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0700223", "BFO:0000002", - "MONDO:0016141", - "MONDO:0005021", + "MONDO:0016191", + "BFO:0000016", "MONDO:0003847", - "MONDO:0016140", - "MONDO:0700223", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0000001", - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0005217", - "MONDO:0016139", "MONDO:0003939", - "MONDO:0000429", - "MONDO:0020120", - "MONDO:0000591", - "BFO:0000001", "MONDO:0015152", + "MONDO:0002320", + "MONDO:0000001", + "MONDO:0020121", + "MONDO:0100175", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", "MONDO:0016971", + "MONDO:0100493", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", - "MONDO:0002081" + "MONDO:0002081", + "MONDO:0000429", + "MONDO:0019952", + "MONDO:0016139", + "MONDO:0700096" ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2J", "subject_closure_label": [ - "autosomal genetic disease", - "realizable entity", + "skeletal muscle disorder", "neuromuscular disease", - "familial cardiomyopathy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "disposition", - "familial dilated cardiomyopathy", - "muscle tissue disorder", + "autosomal genetic disease", "limb-girdle muscular dystrophy", + "autosomal recessive titinopathy", "nervous system disorder", - "myopathy", + "hereditary skeletal muscle disorder", + "specifically dependent continuant", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", "disease", + "realizable entity", + "qualitative or quantitative defects of titin", + "disposition", + "autosomal recessive limb-girdle muscular dystrophy type 2J", + "muscular dystrophy", + "TTN-related myopathy", + "disease", + "entity", + "continuant", "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", + "congenital nervous system disorder", "progressive muscular dystrophy", "musculoskeletal system disorder", - "entity", - "autosomal recessive limb-girdle muscular dystrophy", - "disease", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", - "human disease", - "qualitative or quantitative defects of alpha-sarcoglycan", - "dilated cardiomyopathy", + "congenital myopathy", "hereditary disease", - "cardiomyopathy", - "heart disorder", - "skeletal muscle disorder", - "qualitative or quantitative protein defects in neuromuscular diseases", - "muscular dystrophy", - "cardiovascular disorder", - "continuant", - "specifically dependent continuant", - "intrinsic cardiomyopathy" + "muscle tissue disorder" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0008981", + "object": "HP:0003236", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ + "UPHENO:0001002", + "UBERON:0000468", + "UPHENO:0002332", + "HP:0002086", + "UBERON:0010000", + "GO:1990234", + "CHEBI:33839", + "CHEBI:33675", + "CHEBI:138675", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", + "HP:0000001", + "HP:0011021", + "UPHENO:0077825", + "HP:0012415", + "UPHENO:0051612", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "GO:1902494", + "CHEBI:36357", + "CHEBI:33579", + "BFO:0000002", + "UPHENO:0004459", + "BFO:0000001", + "CHEBI:23367", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0000178", + "UBERON:0001004", + "GO:0061695", + "CHEBI:15841", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:16670", + "HP:0004364", + "UPHENO:0082875", + "UPHENO:0001005", + "UPHENO:0046284", + "HP:0040081", + "UPHENO:0001003", + "BFO:0000015", + "BFO:0000004", "UPHENO:0001001", - "UPHENO:0020584", - "HP:0008968", - "HP:0009127", - "UPHENO:0084763", - "UPHENO:0002816", "UPHENO:0002536", - "HP:0040064", - "HP:0000001", - "UPHENO:0002644", - "UPHENO:0075952", - "HP:0001430", - "UPHENO:0076692", + "GO:0008152", + "UPHENO:0077817", + "UPHENO:0076289", + "UPHENO:0002448", + "HP:0010876", + "UPHENO:0077820", + "HP:0500165", "PATO:0000001", - "UPHENO:0075195", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0003070", + "HP:0002795", + "UPHENO:0051763", + "HP:0000118", + "UPHENO:0077829", + "HP:0001939", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "GO:0005575", + "CHEBI:24431", + "UBERON:0000465", + "PR:000050567", "UPHENO:0075696", - "HP:0002981", + "BFO:0000020", + "UPHENO:0076286", + "HP:0003236", + "BFO:0000003", "BFO:0000002", - "HP:0030236", - "UPHENO:0084715", - "UPHENO:0084767", - "UPHENO:0076710", - "UPHENO:0065599", - "HP:0000118", - "HP:0003011", - "UPHENO:0015280", - "UPHENO:0002647", - "UPHENO:0002830", - "HP:0008981", - "UPHENO:0084535", - "UPHENO:0075777", - "HP:0011805", - "HP:0003712", - "HP:0001437", + "UBERON:0002193", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0004536", + "UPHENO:0051668", + "HP:0001871", + "UPHENO:0077821", + "UPHENO:0051801", "BFO:0000001", - "HP:0002814", - "UPHENO:0001005", - "UPHENO:0001002", - "BFO:0000020", - "UPHENO:0001072", - "UPHENO:0084489" + "UBERON:0001062", + "GO:0032991", + "UBERON:0000467", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256" ], - "object_label": "Calf muscle hypertrophy", + "object_label": "Elevated circulating creatine kinase concentration (HPO)", "object_closure_label": [ - "Calf muscle hypertrophy", - "hypertrophic pelvic complex muscle", - "abnormal hindlimb zeugopod muscle", - "Abnormal skeletal muscle morphology", - "Skeletal muscle hypertrophy", - "abnormal limb", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the musculature", "abnormal anatomical entity", - "abnormal musculature of limb", - "Abnormality of limbs", - "Abnormality of the lower limb", - "Phenotypic abnormality", - "abnormal size of anatomical entity", - "Abnormality of the musculature of the lower limbs", - "hypertrophic multicellular anatomical structure", "Phenotypic abnormality", - "abnormal musculature", - "abnormal anatomical entity morphology", - "phenotype", - "abnormal phenotype by ontology source", - "Abnormality of the calf musculature", - "increased size of the anatomical entity", - "Abnormality of muscle size", - "abnormally increased volume of anatomical entity", - "abnormal anatomical entity morphology in the pelvic complex", + "abnormality of anatomical entity physiology", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration (HPO)", + "process", + "independent continuant", + "protein-containing complex", + "abnormal respiratory system", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality (HPO)", + "abnormal chemical entity level", + "abnormal anatomical entity", + "cellular_component", + "chemical entity", + "material anatomical entity", + "protein-containing material entity", + "transferase complex", + "macromolecule", + "p-block molecular entity", + "gas molecular entity", + "abnormal blood gas molecular entity level", + "specifically dependent continuant", + "Abnormal circulating creatine kinase concentration (HPO)", + "phenotype by ontology source", "entity", + "Elevated circulating creatine kinase concentration (HPO)", + "abnormal blood oxygen molecular entity level", + "abnormal role independent continuant level", + "abnormality of respiratory system physiology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the respiratory system (HPO)", + "occurrent", "continuant", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "abnormal leg", + "molecular entity", + "anatomical structure", + "organism substance", + "blood", + "anatomical system", + "mesoderm-derived structure", + "bodily fluid", + "phenotype", + "abnormal hematopoietic system", "quality", - "All", - "abnormal musculature of lower limb", - "abnormal hindlimb zeugopod", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology", - "Muscle hypertrophy of the lower extremities", - "abnormal anatomical entity", - "Abnormality of the calf", - "increased size of the anatomical entity in independent continuant", - "specifically dependent continuant", - "abnormal muscle organ morphology" + "Abnormal respiratory system physiology (HPO)", + "multicellular anatomical structure", + "creatine kinase complex", + "protein polypeptide chain", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "carboxamide", + "organic amino compound", + "primary amide", + "metabolic process", + "peptide", + "Abnormal circulating nitrogen compound concentration (HPO)", + "abnormality of anatomical entity physiology", + "abnormal independent continuant oxygen molecular entity level", + "Abnormal circulating protein concentration (HPO)", + "abnormal independent continuant gas molecular entity level", + "multicellular organism", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", + "abnormal multicellular organism chemical entity level", + "continuant", + "Abnormal blood oxygen level (HPO)", + "entity", + "biological_process", + "material entity", + "catalytic complex", + "polyatomic entity", + "main group molecular entity", + "respiratory system", + "All (HPO)", + "Abnormality of circulating enzyme level (HPO)", + "abnormal phenotype by ontology source", + "abnormal role blood level", + "anatomical entity", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis (HPO)", + "Abnormal blood gas level (HPO)", + "abnormal blood protein polypeptide chain level", + "abnormal blood chemical entity level", + "hemolymphoid system", + "hematopoietic system", + "haemolymphatic fluid" ], "object_taxon": null, "object_taxon_label": null, @@ -979,24 +1599,28 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", + "has_count": 11, + "has_total": 11, + "has_percentage": 100.0, + "has_quotient": 1.0, + "grouping_key": "MONDO:0012127||biolink:has_phenotype|HP:0003236", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": ["PMID:8069911", "PMID:8538707"], + "publications": ["PMID:25772186", "OMIM:608807"], "publications_links": [ { - "id": "PMID:8069911", - "url": "http://identifiers.org/pubmed/8069911" + "id": "PMID:25772186", + "url": "http://identifiers.org/pubmed/25772186" }, { - "id": "PMID:8538707", - "url": "http://identifiers.org/pubmed/8538707" + "id": "OMIM:608807", + "url": "http://identifiers.org/mim/608807" } ], - "frequency_qualifier": "HP:0040280", + "frequency_qualifier": null, "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, @@ -1012,11 +1636,11 @@ "qualifier_category": null, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Obligate", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040279", "HP:0040280"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Obligate"], + "frequency_qualifier_label": null, + "frequency_qualifier_namespace": null, + "frequency_qualifier_category": null, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": null, "onset_qualifier_namespace": null, "onset_qualifier_category": null, @@ -1032,7 +1656,10 @@ "stage_qualifier_category": null, "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], - "direction": "outgoing" + "direction": "outgoing", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0] } ] } diff --git a/frontend/fixtures/associations-compact.json b/frontend/fixtures/associations-compact.json index d27c6b961..47235caaa 100644 --- a/frontend/fixtures/associations-compact.json +++ b/frontend/fixtures/associations-compact.json @@ -1,186 +1,186 @@ { "limit": 20, "offset": 0, - "total": 4627, + "total": 4618, "items": [ { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0001371", - "object_label": "Flexion contracture", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2933", + "subject_label": "DMPK", + "predicate": "biolink:causes", + "object": "MONDO:0008056", + "object_label": "myotonic dystrophy type 1", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0003458", - "object_label": "EMG: myopathic abnormalities", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:22932", + "subject_label": "GMPPB", + "predicate": "biolink:causes", + "object": "MONDO:0014140", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0003560", - "object_label": "Muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:22932", + "subject_label": "GMPPB", + "predicate": "biolink:causes", + "object": "MONDO:0014141", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0030095", - "object_label": "Reduced muscle collagen VI", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:22932", + "subject_label": "GMPPB", + "predicate": "biolink:causes", + "object": "MONDO:0014142", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2T", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0001220", - "object_label": "Interphalangeal joint contracture of 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"Difficulty walking", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:691", + "subject_label": "PHOX2A", + "predicate": "biolink:causes", + "object": "MONDO:0011181", + "object_label": "fibrosis of extraocular muscles, congenital, 2", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0002460", - "object_label": "Distal muscle weakness", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15999", + "subject_label": "SELENON", + "predicate": "biolink:causes", + "object": "MONDO:0011271", + "object_label": "rigid spine muscular dystrophy 1", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0003325", - "object_label": 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"object_label": "Ankle flexion contracture", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:12403", + "subject_label": "TTN", + "predicate": "biolink:causes", + "object": "MONDO:0012127", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2J", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0009058", - "object_label": "Increased muscle lipid content", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:13164", + "subject_label": "CNBP", + "predicate": "biolink:causes", + "object": "MONDO:0011266", + "object_label": "myotonic dystrophy type 2", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0100490", - "object_label": "Camptodactyly of finger", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6189", + "subject_label": "JAG2", + "predicate": "biolink:causes", + "object": "MONDO:0030456", + "object_label": "muscular dystrophy, limb-girdle, autosomal recessive 27", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0000962", - "object_label": "Hyperkeratosis", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:19139", + "subject_label": "POMGNT1", + "predicate": "biolink:causes", + "object": "MONDO:0009667", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0001073", - "object_label": "Cigarette-paper scars", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:37276", + "subject_label": "CRPPA", + "predicate": "biolink:causes", + "object": "MONDO:0013835", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0001382", - "object_label": "Joint hypermobility", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:3097", + "subject_label": "DYSF", + "predicate": "biolink:causes", + "object": "MONDO:0009676", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0002086", - "object_label": "Abnormality of the respiratory system", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:10807", + "subject_label": "SGCD", + "predicate": "biolink:causes", + "object": "MONDO:0011028", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2F", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0002515", - "object_label": "Waddling gait", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:1938", + "subject_label": "CHKB", + "predicate": "biolink:causes", + "object": "MONDO:0011246", + "object_label": "megaconial type congenital muscular dystrophy", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0002791", - "object_label": "Hypoventilation", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6482", + "subject_label": "LAMA2", + "predicate": "biolink:causes", + "object": "MONDO:0029136", + "object_label": "muscular dystrophy, limb-girdle, autosomal recessive 23", "negated": null }, { - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "subject_label": "Bethlem myopathy", - "predicate": "biolink:has_phenotype", - "object": "HP:0002938", - "object_label": "Lumbar hyperlordosis", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2979", + "subject_label": "DNMT3B", + "predicate": "biolink:causes", + "object": "MONDO:0030355", + "object_label": "facioscapulohumeral muscular dystrophy 4, digenic", "negated": null } ] diff --git a/frontend/fixtures/associations.json b/frontend/fixtures/associations.json index 76ff0d8b8..bf4be2a1d 100644 --- a/frontend/fixtures/associations.json +++ b/frontend/fixtures/associations.json @@ -1,192 +1,113 @@ { "limit": 20, "offset": 0, - "total": 4627, + "total": 4618, "items": [ { - "id": "uuid:d0e1e695-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4de7f552-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2933", + "original_subject": "NCBIGene:1760", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "DMPK", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0008056", + "original_object": "OMIM:160900", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0016107", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0008056", + "MONDO:0004994", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0024573", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", "MONDO:0000001", + "MONDO:0005217", + "MONDO:0016120", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "MONDO:0005045", + "MONDO:0004995", + "MONDO:0002254", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0000591", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", - "MONDO:0002081" + "MONDO:0002081", + "MONDO:0700096" ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "myotonic dystrophy type 1", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "myotonic dystrophy type 1", + "familial cardiomyopathy", + "syndromic disease", + "myotonic dystrophy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", + "heart disorder", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "familial hypertrophic cardiomyopathy", + "disposition", "muscular dystrophy", - "specifically dependent continuant" - ], - "subject_taxon": null, - "subject_taxon_label": null, - "predicate": "biolink:has_phenotype", - "object": "HP:0001371", - "original_object": null, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "HP:0034392", - "UPHENO:0020584", - "UPHENO:0046505", - "UPHENO:0075696", - "UPHENO:0087888", - "UPHENO:0002816", - "UPHENO:0002536", - "UPHENO:0088186", - "UPHENO:0002712", - "HP:0000001", - "UPHENO:0076703", - "HP:0034430", - "HP:0000924", - "UPHENO:0076692", - "PATO:0000001", - "HP:0003549", - "BFO:0000002", - "UPHENO:0075195", - "HP:0033127", - "UPHENO:0001003", - "HP:0100261", - "UPHENO:0021425", - "UPHENO:0002332", - "UPHENO:0081440", - "UPHENO:0076710", - "HP:0011843", - "UPHENO:0082875", - "HP:0000118", - "HP:0003011", - "UPHENO:0015280", - "UPHENO:0002964", - "UPHENO:0012541", - "HP:0001371", - "HP:0011842", - "HP:0011805", - "UPHENO:0001002", - "UPHENO:0031839", - "BFO:0000001", - "UPHENO:0068971", - "HP:0011729", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0046759" - ], - "object_label": "Flexion contracture", - "object_closure_label": [ - "Flexion contracture", - "Abnormal skeletal morphology", - "Abnormal skeletal muscle morphology", - "Phenotypic abnormality", - "abnormal tendon morphology", - "abnormality of anatomical entity physiology", - "decreased length of tendon", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of anatomical entity", - "abnormal anatomical entity", - "abnormal tendon morphology", - "Abnormality of the musculature", - "abnormal anatomical entity", - "abnormal anatomical entity length", - "abnormal connective tissue", - "decreased size of the anatomical entity", - "Phenotypic abnormality", - "abnormal size of anatomical entity", - "decreased length of anatomical entity in independent continuant", - "Abnormality of connective tissue", - "abnormal musculature", - "abnormal anatomical entity morphology", - "phenotype", - "Abnormality of joint mobility", - "abnormal phenotype by ontology source", - "Abnormal joint physiology", - "Abnormality of the skeletal system", + "hypertrophic cardiomyopathy", + "cardiovascular disorder", + "disease", + "intrinsic cardiomyopathy", "entity", - "abnormality of anatomical entity physiology", - "Abnormal tendon morphology", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "abnormal skeletal system morphology", - "Joint contracture", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal anatomical entity morphology", - "continuant", - "specifically dependent continuant", - "abnormality of musculoskeletal system physiology", - "abnormal muscle organ morphology", - "Abnormal musculoskeletal physiology" + "myopathy", + "cardiomyopathy", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "myotonic syndrome", + "hereditary disease", + "muscle tissue disorder" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": [ + "infores:monarchinitiative", + "infores:medgen" + ], "negated": null, "pathway": null, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [ - { - "id": "ECO:0000304", - "url": "http://purl.obolibrary.org/obo/ECO_0000304" - } - ], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0001371", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": null, + "has_total": null, + "has_percentage": null, + "has_quotient": null, + "grouping_key": "HGNC:2933||biolink:causes|MONDO:0008056", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease" }, - "publications": ["orphanet:610"], - "publications_links": [ - { - "id": "orphanet:610", - "url": null - } - ], - "frequency_qualifier": "HP:0040281", + "publications": [], + "publications_links": [], + "frequency_qualifier": null, "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, @@ -202,15 +123,11 @@ "qualifier_category": null, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Very frequent", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0040281", "HP:0000001", "HP:0040279"], - "frequency_qualifier_closure_label": [ - "Frequency", - "Very frequent", - "All" - ], + 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"infores:monarchinitiative", + "infores:medgen" + ], "negated": null, "pathway": null, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [ - { - "id": "ECO:0000304", - "url": "http://purl.obolibrary.org/obo/ECO_0000304" - } - ], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002515", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": null, + "has_total": null, + "has_percentage": null, + "has_quotient": null, + "grouping_key": "HGNC:1938||biolink:causes|MONDO:0011246", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease" }, - "publications": ["orphanet:610"], - "publications_links": [ - { - "id": "orphanet:610", - "url": null - } - ], - "frequency_qualifier": "HP:0040283", + "publications": [], + "publications_links": [], + "frequency_qualifier": null, "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, @@ -3844,11 +2448,11 @@ "qualifier_category": null, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], + "frequency_qualifier_label": null, + "frequency_qualifier_namespace": null, + "frequency_qualifier_category": null, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": null, "onset_qualifier_namespace": null, "onset_qualifier_category": null, @@ -3866,141 +2470,100 @@ "stage_qualifier_closure_label": [] }, { - "id": "uuid:d0e1e6ae-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df364a0-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6482", + "original_subject": "NCBIGene:3908", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "LAMA2", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0029136", + "original_object": "OMIM:618138", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0006025", "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", + "MONDO:0029136", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", + "MONDO:0015152", "MONDO:0000001", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "MONDO:0016106", + "MONDO:0016971", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", - "MONDO:0002081" + "MONDO:0002081", + "MONDO:0100228", + "MONDO:0000429", + "BFO:0000017", + "MONDO:0700096" ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "muscular dystrophy, limb-girdle, autosomal recessive 23", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", + "LAMA2-related muscular dystrophy", + "autosomal genetic disease", + "muscular dystrophy, limb-girdle, autosomal recessive 23", + "limb-girdle muscular dystrophy", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", - "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "disposition", "muscular dystrophy", - "specifically dependent continuant" - ], - "subject_taxon": null, - "subject_taxon_label": null, - "predicate": "biolink:has_phenotype", - "object": "HP:0002791", - "original_object": null, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "UPHENO:0002536", - "HP:0002791", - "HP:0000001", - "UPHENO:0004536", - "HP:0002793", - "PATO:0000001", - "UPHENO:0002448", - "UPHENO:0001002", - "BFO:0000002", - "UPHENO:0001003", - "HP:0002795", - "UPHENO:0075696", - "BFO:0000020", - "UPHENO:0082875", - "HP:0000118", - "UPHENO:0002332", - "UPHENO:0001005", - "BFO:0000001", - "HP:0002086" - ], - "object_label": "Hypoventilation", - "object_closure_label": [ - "specifically dependent continuant", - "abnormal anatomical entity", - "Hypoventilation", - "Phenotypic abnormality", - "Abnormality of the respiratory system", - "abnormality of respiratory system physiology", - "Abnormal respiratory system physiology", - "phenotype", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "Abnormal pattern of respiration", + "disease", "entity", - "abnormality of anatomical entity physiology", - "phenotype by ontology source", - "quality", - "All", - "abnormal respiratory system", - "abnormality of anatomical entity physiology", - "abnormal anatomical entity", - "continuant" + "continuant", + "autosomal recessive disease", + "myopathy", + "autosomal recessive limb-girdle muscular dystrophy", + "progressive muscular dystrophy", + "musculoskeletal system disorder", + "realizable entity", + "hereditary disease", + "muscle tissue disorder" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": [ + "infores:monarchinitiative", + "infores:medgen" + ], "negated": null, "pathway": null, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [ - { - "id": "ECO:0000304", - "url": "http://purl.obolibrary.org/obo/ECO_0000304" - } - ], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002791", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": null, + "has_total": null, + "has_percentage": null, + "has_quotient": null, + "grouping_key": "HGNC:6482||biolink:causes|MONDO:0029136", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease" }, - "publications": ["orphanet:610"], - "publications_links": [ - { - "id": "orphanet:610", - "url": null - } - ], - "frequency_qualifier": "HP:0040283", + "publications": [], + "publications_links": [], + "frequency_qualifier": null, "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, @@ -4016,11 +2579,11 @@ "qualifier_category": null, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], + "frequency_qualifier_label": null, + "frequency_qualifier_namespace": null, + "frequency_qualifier_category": null, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": null, "onset_qualifier_namespace": null, "onset_qualifier_category": null, @@ -4038,157 +2601,96 @@ "stage_qualifier_closure_label": [] }, { - "id": "uuid:d0e1e6af-ca9d-11ee-a7f0-61df2fcac487", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008029", - "original_subject": "Orphanet:610", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0005071", - "BFO:0000016", + "id": "uuid:4df380e8-d2a6-11ee-9025-e629eea977b9", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2979", + "original_subject": "NCBIGene:1789", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "DNMT3B", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0030355", + "original_object": "OMIM:619478", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "BFO:0000001", - "MONDO:0008029", - "MONDO:0016106", - "MONDO:0005336", - "OGMS:0000031", - "MONDO:0003847", + "MONDO:0005071", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0700223", "BFO:0000002", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0019056", + "MONDO:0030355", + "BFO:0000016", + "MONDO:0003847", + "MONDO:0003939", "MONDO:0000001", + "MONDO:0001347", "MONDO:0020121", - "MONDO:0003939", - "MONDO:0019950", - "MONDO:0020120", - "MONDO:0002320", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0016106", + "MONDO:0019303", + "MONDO:0100137", + "MONDO:0005336", "BFO:0000020", - "MONDO:0700096", - "MONDO:0002081" + "MONDO:0002081", + "MONDO:0700096" ], - "subject_label": "Bethlem myopathy", - "subject_closure_label": [ - "congenital myopathy", - "realizable entity", + "object_label": "facioscapulohumeral muscular dystrophy 4, digenic", + "object_closure_label": [ + "skeletal muscle disorder", "neuromuscular disease", - "entity", - "congenital muscular dystrophy", - "disposition", - "muscle tissue disorder", "nervous system disorder", - "myopathy", - "disease", - "progressive muscular dystrophy", - "musculoskeletal system disorder", - "congenital nervous system disorder", - "disease", "hereditary skeletal muscle disorder", "continuant", + "specifically dependent continuant", "human disease", - "hereditary disease", - "Bethlem myopathy", - "skeletal muscle disorder", + "disease", + "realizable entity", + "disposition", "muscular dystrophy", - "specifically dependent continuant" - ], - "subject_taxon": null, - "subject_taxon_label": null, - "predicate": "biolink:has_phenotype", - "object": "HP:0002938", - "original_object": null, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0001001", - "HP:0000925", - "UPHENO:0020584", - "HP:0010674", - "UPHENO:0002536", - "HP:0000001", - "UPHENO:0076703", - "HP:0000924", - "UPHENO:0087089", - "UPHENO:0076692", - "PATO:0000001", - "UPHENO:0001002", - "BFO:0000002", - "HP:0009121", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0022529", - "UPHENO:0075696", - "HP:0000118", - "UPHENO:0015280", - "UPHENO:0002964", - "HP:0003307", - "HP:0011842", - "UPHENO:0001005", - "BFO:0000020", - "UPHENO:0002813", - "HP:0002938", - "BFO:0000001" - ], - "object_label": "Lumbar hyperlordosis", - "object_closure_label": [ - "Abnormal skeletal morphology", - "abnormal vertebral column", - "Lumbar hyperlordosis", - "Abnormality of the vertebral column", - "abnormal anatomical entity", - "Phenotypic abnormality", - "Abnormal axial skeleton morphology", - "Abnormal curvature of the vertebral column", - "abnormal anatomical entity morphology", - "abnormal postcranial axial skeleton morphology", - "phenotype", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "Abnormality of the skeletal system", - "abnormal axial skeleton plus cranial skeleton morphology", + "disease", + "telomere syndrome", "entity", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "All", - "abnormal skeletal system morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal anatomical entity morphology", - "abnormal anatomical entity", - "continuant", - "specifically dependent continuant", - "Hyperlordosis" + "premature aging syndrome", + "myopathy", + "progressive muscular dystrophy", + "facioscapulohumeral muscular dystrophy", + "musculoskeletal system disorder", + "facioscapulohumeral muscular dystrophy 4, digenic", + "hereditary disease", + "muscle tissue disorder" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": [ + "infores:monarchinitiative", + "infores:medgen" + ], "negated": null, "pathway": null, - "evidence_count": 2, - "has_evidence": ["ECO:0000304"], - "has_evidence_links": [ - { - "id": "ECO:0000304", - "url": "http://purl.obolibrary.org/obo/ECO_0000304" - } - ], - "grouping_key": "MONDO:0008029||biolink:has_phenotype|HP:0002938", - "provided_by": "hpoa_disease_to_phenotype_edges", + "evidence_count": 0, + "has_evidence": [], + "has_evidence_links": [], + "has_count": null, + "has_total": null, + "has_percentage": null, + "has_quotient": null, + "grouping_key": "HGNC:2979||biolink:causes|MONDO:0030355", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_to_phenotype", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease" }, - "publications": ["orphanet:610"], - "publications_links": [ - { - "id": "orphanet:610", - "url": null - } - ], - "frequency_qualifier": "HP:0040283", + "publications": [], + "publications_links": [], + "frequency_qualifier": null, "onset_qualifier": null, "sex_qualifier": null, "stage_qualifier": null, @@ -4204,11 +2706,11 @@ "qualifier_category": null, "qualifier_closure": [], "qualifier_closure_label": [], - "frequency_qualifier_label": "Occasional", - "frequency_qualifier_namespace": "HP", - "frequency_qualifier_category": "biolink:PhenotypicFeature", - "frequency_qualifier_closure": ["HP:0000001", "HP:0040283", "HP:0040279"], - "frequency_qualifier_closure_label": ["Frequency", "All", "Occasional"], + "frequency_qualifier_label": null, + "frequency_qualifier_namespace": null, + "frequency_qualifier_category": null, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], "onset_qualifier_label": null, "onset_qualifier_namespace": null, "onset_qualifier_category": null, diff --git a/frontend/fixtures/autocomplete.json b/frontend/fixtures/autocomplete.json index 99205954a..d5ece803b 100644 --- a/frontend/fixtures/autocomplete.json +++ b/frontend/fixtures/autocomplete.json @@ -6,7 +6,7 @@ { "id": "HP:0001994", "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", + "name": "Renal Fanconi syndrome (HPO)", "full_name": null, "deprecated": 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.", @@ -16,7 +16,7 @@ "in_taxon_label": null, "symbol": null, "synonym": [ - "De toni-fanconi-debre syndrome", + "'de toni-fanconi-debre' syndrome", "Renal tubular fanconi syndrome" ], "uri": null, @@ -97,999 +97,1574 @@ "HP:0003251" ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Anemic pallor", - "Renal agenesis", - "Absent radius", - "Pancytopenia", - "Cryptorchidism", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of skin pigmentation", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Anemia", - "Leukemia", - "Abnormal renal morphology", - "Duplicated collecting system", - "Horseshoe kidney", - "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Male infertility" + "Ectopic kidney (HPO)", + "Neutropenia (HPO)", + "Absent thumb (HPO)", + "Intellectual disability (HPO)", + "Microcephaly (HPO)", + "Abnormal heart morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Hypergonadotropic hypogonadism (HPO)", + "Anemic pallor (HPO)", + "Renal agenesis (HPO)", + "Absent radius (HPO)", + "Pancytopenia (HPO)", + "Cryptorchidism (HPO)", + "Thrombocytopenia (HPO)", + "Short thumb (HPO)", + "Reticulocytopenia (HPO)", + "Microphthalmia (HPO)", + "Small for gestational age (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Abnormality of skin pigmentation (HPO)", + "Complete duplication of thumb phalanx (HPO)", + "Bruising susceptibility (HPO)", + "Anemia (HPO)", + "Leukemia (HPO)", + "Abnormal renal morphology (HPO)", + "Duplicated collecting system (HPO)", + "Horseshoe kidney (HPO)", + "Short stature (HPO)", + "Strabismus (HPO)", + "Hearing impairment (HPO)", + "Prolonged G2 phase of cell cycle (HPO)", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Male infertility (HPO)" ], "has_phenotype_closure": [ "HP:0000789", - "UPHENO:0049671", - "UPHENO:0051124", - "UPHENO:0049964", + "GO:0071704", + "GO:0006807", + "GO:0044238", + "GO:0051716", "HP:0003254", - "HP:0003214", + "UPHENO:0049671", + "GO:0090304", + "GO:0006974", + "GO:0006725", + "GO:0034641", + "GO:0022403", + "GO:0022402", "UPHENO:0049952", - "HP:0000598", - "UPHENO:0052231", + "GO:0051319", + "GO:0051325", + "HP:0011018", + "HP:0003214", + "GO:0046483", + "GO:0007605", + "UPHENO:0002240", + "UPHENO:0052970", + "HP:0031704", "UPHENO:0005518", - "HP:0000365", - "HP:0012373", + "UBERON:0001690", + "UBERON:0002105", + "BFO:0000141", + "HP:0000496", + "UPHENO:0049622", "UPHENO:0049586", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0000549", + "NBO:0000338", "UPHENO:0079828", - "UPHENO:0000543", + "NBO:0000001", + "UBERON:0000015", "UPHENO:0080352", - "UPHENO:0081424", - "UPHENO:0082129", - 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"UPHENO:0059829", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0088170", - "UPHENO:0087907", - "HP:0006501", - "UPHENO:0002844", - "UPHENO:0049587", + "UPHENO:0076723", + "CL:0000000", + "UBERON:0000062", + "UBERON:0010314", + "CL:0000003", + "HP:0011793", + "CL:0002371", + "HP:0000032", + "UBERON:0004288", + "UBERON:0003620", + "UBERON:5102389", + "HP:0010974", + "HP:0003213", + "HP:0002715", + "UPHENO:0081423", + "HP:0001909", + "UPHENO:0003020", + "UBERON:0010712", + "UBERON:0005173", + "HP:0011893", + "UBERON:0005178", + "CL:0000081", + "UBERON:0002101", + "UBERON:0009569", + "HP:0032251", + "UBERON:0011143", + "UBERON:0013701", + "HP:0010987", + "HP:0000486", + "UPHENO:0004459", + "UBERON:0012151", + "HP:0004322", + "GO:0010629", + "HP:0001627", + "UBERON:0005055", "HP:0000815", - "HP:0008373", - "UPHENO:0066972", - "UPHENO:0024906", - "UPHENO:0087369", - "UPHENO:0085195", - "HP:0000135", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0085354", + "UBERON:0010741", + "HP:0000818", + "CL:0000255", + "HP:0032309", + "CL:0000763", + "MPATH:119", + "UBERON:0000061", + "UBERON:0011818", + "CL:0000738", + "UBERON:0015061", + "GO:0008150", + "HP:0002813", + "UBERON:0006058", + "UPHENO:0050625", "UPHENO:0066927", - "HP:0000080", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "HP:0000953", - "UPHENO:0088162", - "HP:0000980", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", - "HP:0012130", - "UPHENO:0050113", - "HP:0000104", - "UPHENO:0002219", - "HP:0000957", - "HP:0009823", + "UPHENO:0074589", + "UPHENO:0052178", + "NCBITaxon:2759", + "UBERON:0000468", + "UBERON:0000489", + "CL:0000094", + "GO:0071824", + "UPHENO:0002642", + "GO:1901360", + "HP:0011873", + "HP:0005930", + "UPHENO:0053580", + "GO:0009889", + "CL:0000219", + "HP:0025354", + "UBERON:0011137", + "UBERON:0002104", + "HP:0001875", + "HP:0011314", + "UPHENO:0002880", + "UBERON:0000467", + "HP:0000002", + "HP:0001017", + "HP:0011842", + "UBERON:0002193", + "HP:0040064", + "HP:0000978", + "UBERON:0002405", + "UBERON:5001463", + "UPHENO:0068971", + "UBERON:0003103", + "HP:0001911", + "UBERON:0004375", + "UBERON:0004088", + "HP:0001626", + "UPHENO:0075159", + "UBERON:0034944", + "UBERON:0012354", + "HP:0000365", + "HP:0012210", + "HP:0020047", + "UBERON:0000020", + "UPHENO:0076799", + "UBERON:0000465", + "HP:0003221", + "BFO:0000004", + "BFO:0000020", "HP:0000085", - "HP:0003953", - "HP:0012874", - "HP:0009825", + "UBERON:0019221", + "HP:0001510", + "HP:0011355", + "HP:0100542", + "HP:0001903", + "UPHENO:0076779", + "UBERON:0006048", + "HP:0000364", + "UPHENO:0020832", + "UBERON:0005897", + "BFO:0000040", + "UBERON:0011676", + "UBERON:0000075", + "UBERON:0010688", + "MPATH:120", + "GO:0043473", + "UPHENO:0052778", + "UPHENO:0079872", + "UBERON:0002417", + "UPHENO:0075902", + "HP:0000001", + "GO:0007049", + "UBERON:0010000", + "HP:0001507", + "HP:0001871", "HP:0009822", - "UPHENO:0087510", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0006503", - "HP:0002818" + "UBERON:0010538", + "UBERON:0015203", + "UBERON:5006048", + "UPHENO:0001001", + "GO:0050896", + "UBERON:0000475", + "HP:0001000", + "HP:0012130", + "UBERON:0005881", + "UPHENO:0081424", + "UPHENO:0074572", + "UBERON:8450002", + "UPHENO:0081755", + "UPHENO:0020651", + "UPHENO:0020220", + "HP:0000081", + "GO:0050877", + "NCBITaxon:33208", + "UPHENO:0027515", + "UPHENO:0049588", + "GO:0031052", + "UBERON:0013702", + "UBERON:0000916", + "HP:0000028", + "UBERON:0015212", + "UPHENO:0050620", + "UBERON:0004122", + "UBERON:0011216", + "CL:0002422", + "UBERON:0001062", + "MPATH:0", + "UBERON:0007272", + "UPHENO:0002406", + "BFO:0000001", + "HP:0003220", + "UBERON:0000026", + "UBERON:0000463", + "CL:0000225", + "UPHENO:0001003", + "HP:0009142", + "UPHENO:0001002" ], "has_phenotype_closure_label": [ - "Infertility", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Hearing impairment", - "Hearing abnormality", - "Abnormality of the ear", - "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal cellular response to DNA damage stimulus", + "DNA metabolic process", + "response to stimulus", + "abnormal DNA repair", + "Abnormality of DNA repair (HPO)", + "nucleic acid metabolic process", + "DNA damage response", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "heterocycle metabolic process", + "organic substance metabolic process", + "Decreased fertility in males (HPO)", + "primary metabolic process", + "cellular metabolic process", + "cellular response to stimulus", + "Abnormality of the cell cycle (HPO)", + "biological phase", + "Prolonged G2 phase of cell cycle (HPO)", + "cell cycle phase", + "cell cycle process", + "Abnormal ear physiology (HPO)", + "sensory perception of mechanical stimulus", + "abnormal sensory perception", "abnormality of ear physiology", - "Abnormal eye physiology", - "abnormal behavior process", + "decreased qualitatively sensory perception of sound", + "decreased sensory perception of sound", + "Hearing impairment (HPO)", + "ear", + "immaterial entity", "abnormal behavior", - "Abnormal conjugate eye movement", - "Atypical behavior", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Abnormality of body height", - "Growth delay", - "decreased size of the multicellular organism", + "eye movement", + "abnormal response to stimulus", + "kinesthetic behavior", + "behavior process", + "abnormality of camera-type eye physiology", + "anatomical line", + "abnormal behavior process", + "Strabismus (HPO)", + "abnormal size of multicellular organism", "delayed biological_process", - "shape anatomical entity in independent continuant", - "3-D shape anatomical entity", - "concave 3-D shape anatomical entity", - "abnormal renal collecting system", + "decreased size of the multicellular organism", "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm by anatomical site", - "Neoplasm", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", - "abnormal vasculature", - "Vascular skin abnormality", - "Internal hemorrhage", - "Complete duplication of thumb phalanx", - "Male infertility", - "Duplication of thumb phalanx", - "Duplication of bones involving the upper extremities", + "cellular aromatic compound metabolic process", + "delayed growth", + "concave 3-D shape anatomical entity", + "abnormal shape of continuant", + "shape anatomical entity in independent continuant", "shape kidney", - "Duplication of phalanx of hand", - "Duplication of hand bones", - "Abnormality of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "abnormal cellular process", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", + "Duplicated collecting system (HPO)", + "Leukemia (HPO)", + "Hematological neoplasm (HPO)", + "vasculature", + "Abnormality of the vasculature (HPO)", + "Vascular skin abnormality (HPO)", + "pathological phenotype observation", + "Abnormal bleeding (HPO)", + "abnormality of multicellular organism height", + "Internal hemorrhage (HPO)", + "Bruising susceptibility (HPO)", + "cellular nitrogen compound metabolic process", + "Subcutaneous hemorrhage (HPO)", + "abnormality of cardiovascular system physiology", + "Abnormal cardiovascular system physiology (HPO)", + "circulatory system process", + "abnormal vasculature", + "Duplication of hand bones (HPO)", + "Duplication of phalanx of hand (HPO)", + "Abnormal cellular physiology (HPO)", + "Abnormality of metabolism/homeostasis (HPO)", + "negative regulation of macromolecule metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "regulation of cellular process", + "negative regulation of biological process", + "negative regulation of gene expression", + "metabolic process", + "cellular process", "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Small for gestational age", - "Decreased anatomical entity mass", - "abnormality of anatomical entity mass", + "Chromosome breakage (HPO)", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "abnormal cellular process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "protein-containing complex organization", + "response to stress", + "cellular component organization", + "regulation of biological process", + "growth", + "Growth abnormality (HPO)", "decreased multicellular organism mass", - "Decreased multicellular organism mass", - "Abnormality of body weight", - "abnormality of multicellular organism mass", - "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face", - "Abnormality of the orbital region", - "abnormal face morphology", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "Abnormal reticulocyte morphology", - "decreased length of digit", - "Short finger", - "decreased length of manual digit 1", - "Short digit", - "decreased length of anatomical entity in independent continuant", + "Abnormality of thumb phalanx (HPO)", + "Decreased body weight (HPO)", + "entire sense organ system", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "Microphthalmia (HPO)", + "Abnormal eye morphology (HPO)", + "simple eye", + "visual system", + "eye", + "orbital region", + "negative regulation of metabolic process", + "abnormal camera-type eye morphology", + "face", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of the face (HPO)", + "Short stature (HPO)", + "camera-type eye", + "Neoplasm (HPO)", + "Abnormality of globe size (HPO)", + "Abnormality of the eye (HPO)", + "Reticulocytopenia (HPO)", + "decreased size of the anatomical entity in the pectoral complex", "decreased length of manual digit", - "decreased size of the anatomical entity", + "decreased length of digit", + "Short thumb (HPO)", "decreased size of the anatomical entity in the independent continuant", - "abnormally localised testis", + "decreased size of the anatomical entity", + "decreased length of manual digit 1", + "sensory perception", "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal response to stress", - "decreased developmental process", - "Abnormal external genitalia", + "male organism", + "abnormal reproductive process", + "decreased qualitatively developmental process", "decreased qualitatively reproductive process", + "decreased qualitatively biological_process", + "Complete duplication of thumb phalanx (HPO)", + "Abnormality of chromosome stability (HPO)", "abnormal multicellular organismal reproductive process", - "Abnormal male reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormality of internal male genitalia physiology", - "abnormal spermatogenesis", - "Abnormal testis morphology", - "Cryptorchidism", - "abnormal testis morphology", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", - "abnormality of male reproductive system physiology", + "Abnormality of blood circulation (HPO)", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "external male genitalia", + "Abnormal testis morphology (HPO)", "abnormal developmental process", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "abnormal male reproductive system morphology", - "absent gamete", - "abnormal reproductive process", - "Decreased body weight", - "decreased qualitatively developmental process", - "Abnormal internal genitalia", - "absent sperm in the independent continuant", - "changed developmental process rate", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "external genitalia", + "anatomical cluster", + "internal genitalia", + "abnormal reproductive system morphology", + "semen", + "Abnormal spermatogenesis (HPO)", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal developmental process involved in reproduction", + "abnormality of male reproductive system physiology", + "abnormally localised testis", + "abnormal external male genitalia", + "abnormal male reproductive system", + "abnormal gamete generation", + "abnormality of internal male genitalia physiology", + "Pancytopenia (HPO)", + "sexual reproduction", + "anucleate cell", "abnormal male reproductive organ morphology", - "Abnormality of male external genitalia", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "Pancytopenia", - "abnormal platelet", - "abnormal bone marrow cell morphology", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "abnormal forelimb morphology", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal neutrophil count", - "abnormal sensory perception", - "abnormal manus", - "abnormal manus morphology", - "Abnormality of limb bone", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "agenesis of anatomical entity", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of the cell cycle", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Short thumb", - "abnormal manual digit 1 morphology", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", + "bone marrow", + "secretory cell", + "abnormal orbital region", + "bone marrow cell", + "Hearing abnormality (HPO)", + "platelet", + "biogenic amine secreting cell", + "decreased biological_process", + "serotonin secreting cell", + "germ line cell", + "bone cell", + "Abnormality of thrombocytes (HPO)", + "decreased developmental process", + "Absent radius (HPO)", + "sperm", + "Aplasia/Hypoplasia of the radius (HPO)", + "Aplasia involving bones of the extremities (HPO)", + "Abnormality of forearm bone (HPO)", + "Decreased multicellular organism mass", + "Aplasia involving bones of the upper limbs (HPO)", + "absent radius bone in the independent continuant", + "forelimb zeugopod skeleton", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "zeugopod", + "radius endochondral element", + "arm bone", + "radius bone", + "absent forelimb zeugopod bone", + "body part movement", + "absent radius bone in the forelimb", + "absent radius bone", + "Complete duplication of phalanx of hand (HPO)", + "Absent forearm bone (HPO)", + "abnormal forelimb zeugopod", "absent kidney", - "phenotype by ontology source", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal cellular phenotype", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormally decreased number of neutrophil", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal radius bone morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Abnormal cellular immune system morphology", - "abnormal brain morphology", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "Abnormality of skull size", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", + "male gamete generation", + "zeugopodial skeleton", + "Renal agenesis (HPO)", + "non-material anatomical boundary", + "Renal hypoplasia/aplasia (HPO)", + "oxygen accumulating cell", + "Pallor (HPO)", + "Abnormality of the genital system (HPO)", + "nitrogen compound metabolic process", + "abnormal sensory perception of sound", + "abnormal testis morphology", + "reproductive system", + "Puberty and gonadal disorders (HPO)", + "changed developmental process rate", + "neutrophil", + "Hypergonadotropic hypogonadism (HPO)", + "glandular system", + "aplastic forelimb zeugopod bone", + "Abnormality of the endocrine system (HPO)", + "manual digit plus metapodial segment", + "Hypogonadism (HPO)", + "abnormal endocrine system", + "reproductive organ", + "digit 1 digitopodial skeleton", + "gonad", + "Abnormal reticulocyte morphology (HPO)", + "animal cell", + "regional part of brain", + "abnormality of reproductive system physiology", + "eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "increased qualitatively biological_process in independent continuant", + "Macule (HPO)", "abnormal growth", - "abnormal leukocyte morphology", - "Abnormal upper limb bone morphology", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", - "absent digit", - "Absent forearm bone", - "quality", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal digit", - "abnormally localised anatomical entity in independent continuant", - "abnormal limb", - "abnormal cell", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "absent manual digit", - "abnormal phenotype by ontology source", - "abnormal genitourinary system", - "Abnormal appendicular skeleton morphology", - "abnormally localised anatomical entity", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormality of the upper urinary tract", - "absent forelimb zeugopod bone", - "abnormal renal system", - "abnormal anatomical entity topology in independent continuant", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormally decreased number of cell in the independent continuant", - "Neutropenia", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Decreased fertility in males", - "abnormal neutrophil", - "Abnormality of the skin", - "abnormal granulocyte morphology", - "Abnormal leukocyte count", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of leukocyte in the independent continuant", - "continuant", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "Abnormality of brain morphology", - "abnormal immune system", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", + "Abnormal internal genitalia (HPO)", + "increased biological_process in skin of body", + "abnormal skin of body morphology", + "multicellular organismal reproductive process", + "Abnormal cell morphology (HPO)", + "Abnormality of the integument (HPO)", + "viscus", + "integumental system", + "abnormal eyeball of camera-type eye", + "abnormal pigmentation in independent continuant", + "Abnormality of the orbital region (HPO)", + "erythrocyte", "abnormal limb bone morphology", - "absent anatomical entity", - "abnormal limb morphology", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Abnormality of reproductive system physiology (HPO)", + "increased qualitatively biological_process", + "reticulocyte", + "abnormal central nervous system morphology", "increased biological_process", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "absent germ cell", + "abnormal metabolic process", "changed biological_process rate", - "increased biological_process in skin of body", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", + "Irregular hyperpigmentation (HPO)", + "absent anatomical entity in the forelimb", + "abnormal skin of body", + "abnormal integument", + "Abnormal renal collecting system morphology (HPO)", + "sense organ", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "circulatory system", + "Abnormality of the cardiovascular system (HPO)", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "head", + "Hyperpigmentation of the skin (HPO)", + "cardiovascular system", + "abnormal cardiovascular system morphology", + "circulatory organ", + "primary circulatory organ", + "vascular system", + "thoracic segment of trunk", + "thoracic segment organ", + "upper limb segment", + "Morphological central nervous system abnormality (HPO)", + "heart", + "abnormal cardiovascular system", "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormality of the head", - "abnormal bone marrow cell", - "Anemia", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Decreased head circumference", - "abnormal external genitalia", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "decreased anatomical entity mass", - "abnormal long bone morphology", + "manual digit 1 plus metapodial segment", + "telencephalon", + "Opisthokonta", + "absent anatomical entity", + "central nervous system", + "structure with developmental contribution from neural crest", + "abnormal brain morphology", "aplasia or hypoplasia of telencephalon", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "abnormal telencephalon morphology", - "abnormal size of skull", - "Abnormal skull morphology", - "absent radius bone in the independent continuant", - "abnormal DNA damage response", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormal morphology of the radius", - "Morphological central nervous system abnormality", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "Abnormal myeloid leukocyte morphology", + "Azoospermia (HPO)", + "cranial skeletal system", + "organism", + "Localized skin lesion (HPO)", + "abnormal skull morphology", + "body proper", + "Abnormal renal morphology (HPO)", + "nervous system process", + "Abnormal axial skeleton morphology (HPO)", + "abnormal size of anatomical entity", + "shape anatomical entity", + "digit 1", + "regional part of nervous system", "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "abnormal phalanx of manus morphology", + "multicellular organism reproduction", + "Metazoa", + "axial skeleton plus cranial skeleton", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "Abnormal skull morphology (HPO)", + "decreased height of the multicellular organism", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "reproductive process", + "abnormal pigmentation", + "Neoplasm by anatomical site (HPO)", + "phalanx", + "Abnormality of head or neck (HPO)", + "root", + "Abnormality of the ear (HPO)", + "protein-containing material entity", + "subdivision of skeleton", + "biological_process", + "system process", + "Intellectual disability (HPO)", + "multicellular organismal process", + "Abnormal eye physiology (HPO)", + "Neurodevelopmental abnormality (HPO)", + "pigmentation", "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", - "delayed growth", - "abnormal cardiovascular system", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "abnormal integument", + "Abnormality of the nervous system (HPO)", + "cognition", + "aplasia or hypoplasia of radius bone", + "main body axis", + "cellular organisms", + "skin of body", "abnormal biological_process", - "Macule", - "Cafe-au-lait spot", - "increased pigmentation in skin of body", - "abnormal pigmentation", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "increased pigmentation", - "increased pigmentation in independent continuant", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", + "multi-tissue structure", + "organ system subdivision", + "Phenotypic abnormality (HPO)", + "process", + "absent epiphysis of phalanx of manus in the independent continuant", + "abnormality of anatomical entity physiology", + "skeletal element", + "abnormal DNA metabolic process", + "forelimb", + "Abnormal erythroid lineage cell morphology (HPO)", + "abnormal kidney", + "acropodial skeleton", + "abnormal arm", + "Microcephaly (HPO)", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "Anemic pallor (HPO)", + "abnormal bone of pectoral complex morphology", + "Abnormal conjugate eye movement (HPO)", + "system", + "Abnormal hand morphology (HPO)", + "trunk region element", + "pectoral complex", + "abnormal spermatogenesis", + "germ cell", + "segment of manus", + "abnormal anatomical entity morphology in the independent continuant", + "digit 1 or 5", + "absent manual digit", + "G2 phase", + "manual digitopodium region", + "gamete", + "organ part", + "cell cycle", + "male reproductive organ", + "reproductive structure", + "manual digit 1 or 5", + "abnormal reproductive system", + "absent epiphysis of phalanx of manus in the phalanx of manus", + "aplasia or hypoplasia of manual digit", + "abnormal epiphysis morphology in the independent continuant", + "phenotype", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal manus", + "absent anatomical entity in the phalanx of manus", + "Generalized abnormality of skin (HPO)", + "Abnormality of bone marrow cell morphology (HPO)", + "zone of long bone", + "arm", + "long bone", + "Thrombocytopenia (HPO)", + "Abnormality of forebrain morphology (HPO)", + "bone of appendage girdle complex", + "Horseshoe kidney (HPO)", + "abnormal postcranial axial skeleton morphology", + "aplasia or hypoplasia of manual digit 1", + "skeleton of manus", + "nervous system", + "skeleton of limb", + "vestibulo-auditory system", + "forelimb endochondral element", "increased biological_process in independent continuant", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased qualitatively biological_process in independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Aplasia of the fingers", - "Hypergonadotropic hypogonadism", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the endocrine system", - "Hypogonadism", - "Decreased fertility", - "Abnormality of reproductive system physiology", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "abnormal response to stress", + "epiphysis of phalanx of manus", + "Abnormality of brain morphology (HPO)", + "chromatin remodeling", "absent kidney in the independent continuant", - "Anemic pallor", - "abnormal hematopoietic system", - "Renal agenesis", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "increased qualitatively biological_process", - "All", - "Aplasia involving bones of the extremities", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", + "abnormal digit", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", "abnormal cellular metabolic process", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "absent radius bone in the forelimb", - "abnormal forelimb zeugopod bone", + "acropodium region", + "increased pigmentation in skin of body", + "manual digit 1", + "abnormal radius bone", + "digit plus metapodial segment", + "Abnormal digit morphology (HPO)", + "multi-limb segment region", + "immaterial anatomical entity", + "blood circulation", + "Abnormal reproductive system morphology (HPO)", + "endochondral element", + "subdivision of trunk", + "abdomen element", + "Hypermelanotic macule (HPO)", + "abnormal anatomical entity morphology in the pectoral complex", + "endocrine system", + "skull", + "digit 1 plus metapodial segment", + "trunk", + "multicellular anatomical structure", + "autopodial skeleton", + "abnormal anatomical entity morphology in the skeleton of manus", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Cryptorchidism (HPO)", + "Abnormal immune system morphology (HPO)", + "decreased spermatogenesis", + "manual digit bone", + "decreased anatomical entity mass", + "anatomical entity dysfunction in independent continuant", + "increased pigmentation", + "DNA repair", + "abnormal renal collecting system", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "immune system", + "Abnormal cellular immune system morphology (HPO)", + "myeloid cell", + "abnormal phalanx morphology", + "forelimb bone", + "interphase", + "obsolete cell", + "Abnormal erythrocyte morphology (HPO)", + "epiphysis", + "cavitated compound organ", + "Abnormal heart morphology (HPO)", + "abnormally localised anatomical entity in independent continuant", + "musculoskeletal system", + "Abnormality of limb epiphysis morphology (HPO)", + "compound organ", + "autopod region", + "upper urinary tract", + "abnormally decreased functionality of the anatomical entity", + "skeletal system", + "U-shaped anatomical entity", + "manual digit 1 phalanx endochondral element", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "chromatin organization", + "sensory system", + "manual digit 1 phalanx", + "abnormal upper urinary tract", + "macromolecule metabolic process", + "bone of pectoral complex", + "superficial fascia", + "abnormal skeletal system morphology", + "manual digitopodium bone", + "abnormal craniocervical region", + "Abnormal myeloid leukocyte morphology (HPO)", + "Abnormal upper limb bone morphology (HPO)", + "phalanx endochondral element", + "limb skeleton subdivision", + "hemolymphoid system", + "Decreased anatomical entity mass", + "Abnormal appendicular skeleton morphology (HPO)", + "mesoderm-derived structure", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "Abnormal skeletal morphology (HPO)", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", + "abnormal external genitalia", + "abnormal heart morphology", + "limb long bone", + "decreased length of anatomical entity in independent continuant", + "autopod endochondral element", + "phalanx of manus", + "autopod bone", + "manual digit 1 digitopodial skeleton", + "abnormal eye movement", + "subdivision of organism along appendicular axis", + "absent manual digit 1", + "gamete generation", + "Abnormality of skin morphology (HPO)", + "absent anatomical entity in the limb", + "zone of bone organ", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "motile cell", + "paired limb/fin", + "sensory perception of sound", + "abnormal phalanx of manus morphology", + "abnormal size of eyeball of camera-type eye", + "abnormal face", + "aplastic anatomical entity", + "abnormal biological_process in independent continuant", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "abnormality of multicellular organism mass", + "Short finger (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "eukaryotic cell", + "subdivision of head", + "Abnormality of epiphysis morphology (HPO)", + "Decreased fertility (HPO)", + "integument", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of limb bone morphology (HPO)", + "Abnormality of the hand (HPO)", + "abnormal cell cycle", + "abnormal ear", + "abdominal segment element", + "absent digit", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "abnormal manus morphology", + "cell", + "phenotype by ontology source", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "forelimb long bone", + "heart plus pericardium", + "skeleton", + "manus bone", + "absent kidney in the renal system", + "Abnormal leukocyte morphology (HPO)", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "Abnormal platelet count (HPO)", + "abnormal manual digit 1 morphology", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "regulation of macromolecule metabolic process", + "aplastic manual digit 1", + "continuant", + "Small for gestational age (HPO)", + "Abnormal nervous system physiology (HPO)", + "appendage", + "Abnormality of cardiovascular system morphology (HPO)", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "abnormal epiphysis of phalanx of manus morphology", + "abnormal cellular component organization", + "appendicular skeletal system", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "anatomical collection", + "internal male genitalia", + "occurrent", + "axial skeletal system", + "skeleton of manual digitopodium", + "cellular response to stress", + "absent anatomical entity in the independent continuant", + "autopodial extension", + "absent anatomical entity in the multicellular organism", + "anterior region of body", + "abnormal nervous system", + "male germ cell", + "lateral structure", + "limb", + "endochondral bone", + "absent epiphysis in the independent continuant", + "absent epiphysis", + "Abnormality of thumb epiphysis (HPO)", + "brain", + "increased pigmentation in independent continuant", + "Absent epiphyses of the thumb (HPO)", + "Growth delay (HPO)", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "abnormally decreased functionality of the gonad", + "abnormal limb bone", + "granulocyte", + "Abnormality of the upper urinary tract (HPO)", + "Anemia (HPO)", + "Abnormal thumb morphology (HPO)", + "Absent thumb (HPO)", + "abnormal blood circulation", + "bone of free limb or fin", + "decreased qualitatively sensory perception of mechanical stimulus", + "Aplasia involving forearm bones (HPO)", + "native cell", + "paired limb/fin segment", "absent anatomical entity in the skeletal system", - "Aplasia involving bones of the upper limbs", + "Short digit (HPO)", "abnormal limb long bone morphology", - "absent radius bone", - "Aplasia/Hypoplasia of the radius", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", - "Absent radius", - "Aplasia/hypoplasia involving forearm bones" - ], - "has_phenotype_count": 33, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0013566", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group L", - "full_name": null, - "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", - "xref": [], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "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", + "manual digit", + "Abnormal granulocyte count (HPO)", + "Abnormality of the forearm (HPO)", + "postcranial axial skeleton", + "Abnormality of the immune system (HPO)", + "pectoral appendage skeleton", + "nucleate cell", + "skeleton of manual acropodium", + "excretory system", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Abnormality of eye movement (HPO)", + "decreased size of the eyeball of camera-type eye", + "appendage girdle complex", + "Abnormal myeloid cell morphology (HPO)", + "Abnormality of neutrophils (HPO)", + "agenesis of anatomical entity", + "abnormal renal system", + "epigenetic regulation of gene expression", + "abnormally localised kidney", + "Cafe-au-lait spot (HPO)", + "abnormal size of skull", + "Neutropenia (HPO)", + "hematopoietic cell", + "Abnormal granulocyte morphology (HPO)", + "abnormal forelimb zeugopod bone", + "Decreased head circumference (HPO)", + "disconnected anatomical group", + "hematopoietic system", + "abnormal forebrain morphology", + "digitopodium region", + "Abnormal neutrophil count (HPO)", + "Male infertility (HPO)", + "abnormal immune system", + "Abnormal external genitalia (HPO)", + "Abnormality of the kidney (HPO)", + "protein-DNA complex organization", + "organ", + "programmed DNA elimination by chromosome breakage", + "organism subdivision", + "Behavioral abnormality (HPO)", + "developmental process involved in reproduction", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "abnormal multicellular organism morphology", + "Infertility (HPO)", + "abnormal kidney morphology", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "Duplication of bones involving the upper extremities (HPO)", + "All (HPO)", + "behavior", + "erythroid lineage cell", + "blood cell", + "abnormal epiphysis morphology in the skeleton of manus", + "U-shaped kidney", + "material anatomical entity", + "material entity", + "abnormality of nervous system physiology", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "organism substance", + "Abnormal leukocyte count (HPO)", + "pectoral appendage", + "multicellular organism", + "abnormal location of anatomical entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "abnormal long bone morphology", + "entity", + "aplasia or hypoplasia of anatomical entity", + "enucleated reticulocyte", + "forelimb zeugopod bone", + "quality", + "3-D shape anatomical entity in independent continuant", + "anatomical system", + "abnormal anatomical entity morphology", + "Duplication of thumb phalanx (HPO)", + "appendicular skeleton", + "abdomen", + "male reproductive system", + "limb bone", + "leukocyte", + "renal collecting system", + "Cognitive impairment (HPO)", + "zone of organ", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", + "abnormal limb", + "tissue", + "Abnormality of skin pigmentation (HPO)", + "anatomical structure", + "renal system", + "epiphysis of phalanx", + "myeloid leukocyte", + "non-connected functional system", + "abnormally localised anatomical entity", + "anatomical line between pupils", + "Abnormal localization of kidney (HPO)", + "male gamete", + "ectoderm-derived structure", + "specifically dependent continuant", + "abnormal nervous system morphology", + "abnormality of anatomical entity mass", + "bone element", + "kidney", + "individual digit of digitopodial skeleton", + "abnormal internal genitalia", + "somatic cell", + "Abnormal platelet morphology (HPO)", + "Abnormal cerebral morphology (HPO)", + "testis", + "craniocervical region", + "Abnormality of upper limb epiphysis morphology (HPO)", + "3-D shape anatomical entity", + "Abnormal cellular phenotype (HPO)", + "cellular component organization or biogenesis", + "abnormal digit morphology", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the manus", + "Abnormal nervous system morphology (HPO)", + "Abnormality of skull size (HPO)", + "absent anatomical entity in the renal system", + "abnormal hematopoietic system", + "subdivision of organism along main body axis", + "aplasia or hypoplasia of skeleton", + "abnormal cellular response to stress", + "independent continuant", + "limb endochondral element", + "anatomical entity", + "thoracic cavity element", + "abnormal phenotype by ontology source", + "Abnormality of the skin (HPO)", + "reproduction", + "Abnormality of limbs (HPO)", + "abnormal telencephalon morphology", + "Ectopic kidney (HPO)" + ], + "has_phenotype_count": 33, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0013566", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group L", + "full_name": null, + "deprecated": null, + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", + "xref": [], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "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", @@ -1102,23 +1677,18 @@ "HP:0040012", "HP:0007018", "HP:0000582", - "HP:0000470", "HP:0008551", "HP:0009777", "HP:0004590", "HP:0002575", "HP:0000238", + "HP:0000470", "HP:0000369", "HP:0000465", "HP:0000957", "HP:0002023", - "HP:0001510", "HP:0000316", - "HP:0001903", - "HP:0000568", - "HP:0000431", - "HP:0005528", - "HP:0000089", + "HP:0001510", "HP:0001776", "HP:0000347", "HP:0003974", @@ -1133,1092 +1703,1868 @@ "HP:0000175", "HP:0000054", "HP:0000437", + "HP:0001903", "HP:0000122", - "HP:0002188" + "HP:0002188", + "HP:0000568", + "HP:0000431", + "HP:0005528", + "HP:0000089" ], "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", - "Upslanted palpebral fissure", - "Short neck", - "Microtia", - "Absent thumb", - "Hypoplastic sacrum", - "Tracheoesophageal fistula", - "Hydrocephalus", - "Low-set ears", - "Webbed neck", - "Cafe-au-lait spot", - "Anal atresia", - "Growth delay", - "Hypertelorism", - "Anemia", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", - "Renal hypoplasia", - "Bilateral talipes equinovarus", - "Micrognathia", - "Absent radius", - "Intrauterine growth retardation", - "Anotia", - "Aplasia of the uterus", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Esophageal atresia", - "Feeding difficulties", - "Cerebellar hypoplasia", - "Cleft palate", - "Micropenis", - "Depressed nasal tip", - "Unilateral renal agenesis", - "Delayed CNS myelination" + "Chromosome breakage (HPO)", + "Attention deficit hyperactivity disorder (HPO)", + "Upslanted palpebral fissure (HPO)", + "Microtia (HPO)", + "Absent thumb (HPO)", + "Hypoplastic sacrum (HPO)", + "Tracheoesophageal fistula (HPO)", + "Hydrocephalus (HPO)", + "Short neck (HPO)", + "Low-set ears (HPO)", + "Webbed neck (HPO)", + "Cafe-au-lait spot (HPO)", + "Anal atresia (HPO)", + "Hypertelorism (HPO)", + "Growth delay (HPO)", + "Bilateral talipes equinovarus (HPO)", + "Micrognathia (HPO)", + "Absent radius (HPO)", + "Intrauterine growth retardation (HPO)", + "Anotia (HPO)", + "Aplasia of the uterus (HPO)", + "Global developmental delay (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Esophageal atresia (HPO)", + "Feeding difficulties (HPO)", + "Cerebellar hypoplasia (HPO)", + "Cleft palate (HPO)", + "Micropenis (HPO)", + "Depressed nasal tip (HPO)", + "Anemia (HPO)", + "Unilateral renal agenesis (HPO)", + "Delayed CNS myelination (HPO)", + "Microphthalmia (HPO)", + "Wide nasal bridge (HPO)", + "Bone marrow hypocellularity (HPO)", + "Renal hypoplasia (HPO)" ], "has_phenotype_closure": [ - "UPHENO:0050406", - "UPHENO:0000552", + "HP:0000089", + "UPHENO:0075182", + "UPHENO:0019487", + "UPHENO:0069110", + "UPHENO:0081210", + "CL:0002092", + "UBERON:0002371", + "UPHENO:0002948", + "CL:0001035", + "HP:0012145", + "UBERON:0002405", + "UPHENO:0006147", + "HP:0000422", + "UPHENO:0006161", + "HP:0100887", + "HP:0008056", + "UPHENO:0080209", + "UPHENO:0069523", + "HP:0000568", + "GO:0007272", + "UPHENO:0050372", + "UPHENO:0084012", + "HP:0002188", + "UPHENO:0000553", + "GO:0007417", + "GO:0007399", + "GO:0042552", + "GO:0010001", + "GO:0021782", + "GO:0008366", + "GO:0030154", + "GO:0048468", + "UPHENO:0062515", + "GO:0022010", + "UPHENO:0061854", "HP:0012448", "UPHENO:0084007", - "UPHENO:0050372", - "HP:0012447", + "UPHENO:0083952", + "GO:0048869", + "GO:0048709", + "GO:0014003", + "HP:0011400", "UPHENO:0062527", - "UPHENO:0008593", - "UPHENO:0088168", - "UPHENO:0082467", - "UPHENO:0041458", + "UPHENO:0050406", + "UPHENO:0076779", + "UPHENO:0026980", + "UBERON:0000916", + "UPHENO:0025100", + "UPHENO:0025211", + "UBERON:0000489", + "HP:0000079", + "UBERON:8450002", + "HP:0000077", + "UBERON:0001008", + "UBERON:0002113", + "UBERON:0011143", + "HP:0000104", + "HP:0012130", + "GO:0048731", + "HP:0001871", + "UBERON:0002193", + "HP:0025461", + "UPHENO:0081585", + "HP:0020047", + "HP:0001877", + "CL:0002371", + "UPHENO:0004459", + "UPHENO:0021753", + "CL:0000548", + "CL:0000232", + "CL:0000329", + "UPHENO:0041203", + "HP:0000366", "HP:0000436", - "UPHENO:0000553", - "UPHENO:0068843", - "UPHENO:0081095", - "HP:0000036", - "UPHENO:0002597", + "UBERON:0002268", + "UPHENO:0082454", + "UBERON:0012128", + "UBERON:0007827", + 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"UPHENO:0021746", + "UPHENO:0084448", + "UPHENO:0084444", "HP:0000708", - "BFO:0000002", - "HP:0000736", - "HP:0012639", - "HP:0000464", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0079826", - "HP:0000163", - "UPHENO:0002433", - "UPHENO:0087427", - "UPHENO:0002332", - "HP:0031703", - "HP:0008771", - "UPHENO:0002764", - "UPHENO:0086824", - "UPHENO:0086172", - "HP:0000707", + "UBERON:0004089", + "UPHENO:0081451", + "UPHENO:0081598", + "UBERON:0012139", + "UPHENO:0050021", + "UBERON:0002495", + "UBERON:0002544", + "UBERON:0005177", + "UBERON:5002389", + "UPHENO:0002964", + "HP:0009601", + "UBERON:5106048", + "UPHENO:0075696", + "HP:0006505", + "HP:0009686", + "UPHENO:0020220", + "UBERON:5006048", + "HP:0002977", + "HP:0010935", + "UBERON:0002529", + "HP:0005105", + "UBERON:0004176", + "UBERON:0004375", + "UBERON:0010543", + "UBERON:0002105", + "NBO:0000308", + "UPHENO:0002635", + "UBERON:0004908", + "HP:0000174", + "UBERON:0015021", + "HP:0000431", + "UPHENO:0025739", + "UBERON:5102544", + "UBERON:0011137", + "UBERON:0000064", + "UPHENO:0004523", + "UBERON:0004446", + "UBERON:0003103", + "UBERON:0013702", + "UBERON:0002204", + "UBERON:0012150", + "UPHENO:0076724", + "UPHENO:0020832", + "UPHENO:0020041", + "UBERON:0000047", + "UPHENO:0076730", + "HP:0100737", + "UPHENO:0052778", + "UPHENO:0079872", + "UBERON:0007375", + "NBO:0000568", + "UPHENO:0080325", + "UPHENO:0000552", + "UPHENO:0002725", + "HP:0000118", + "UBERON:0002199", + "UPHENO:0002830", + "UBERON:0019231", + "GO:0007610", + "UBERON:0005881", + "GO:0042063", + "BFO:0000020", + "UPHENO:0019661", + "UBERON:0001270", + "HP:0010577", + "UPHENO:0049990", + "UPHENO:0084446", + "HP:0002589", + "UPHENO:0080099", "HP:0002817", - "UPHENO:0081466", - "HP:0040012", - "HP:0011400", - "HP:0000175", - "UPHENO:0081783", - "HP:0009121", - "UPHENO:0002896", - "UPHENO:0080300", - "HP:0000234", - "UPHENO:0005433", - "UPHENO:0080114", + "CL:0000003", + "HP:0030791", + "UPHENO:0026028", + "UBERON:0002102", + "HP:0001155", + "UPHENO:0076735", + "UBERON:0002389", + "UBERON:0010363", + "UPHENO:0076740", + "UPHENO:0021791", + "UPHENO:0076805", + "UBERON:0015023", + "UBERON:0003607", + "UBERON:0006048", + "UBERON:0001437", + "HP:0025031", + "UPHENO:0083951", + "UBERON:0005897", + "UPHENO:0049586", + "UPHENO:0002813", "UPHENO:0003811", - "UPHENO:0081598", - "UPHENO:0001002", - "UPHENO:0087924", - "UPHENO:0087510", + "HP:0000356", + "HP:0002086", + "UBERON:0002390", + "UBERON:0011249", + "UBERON:0006058", + "UBERON:0000117", + "UPHENO:0080114", + "UPHENO:0018426", + "HP:0005930", + "UBERON:0005944", + "UPHENO:0021800", + "UPHENO:0008668", + "UBERON:0010313", + "HP:0040064", "UPHENO:0018424", - "HP:0000357", - "HP:5200045", - "UPHENO:0080110", - "HP:0005528", - "UPHENO:0076761", - "UPHENO:0020659", - "HP:0000470", - "UPHENO:0076791", - "UPHENO:0086589", - "HP:0200006", - "HP:0000315", - "UPHENO:0005016", - "UPHENO:0026128", + "UPHENO:0020745", + "UPHENO:0009300", + "UPHENO:0009327", + "UBERON:0000072", + "UPHENO:0027319", + "PR:000050567", + "HP:0010228", + "HP:0000347", + "UBERON:0019221", + "HP:0008551", + "UPHENO:0009382", + "UPHENO:0002443", + "UPHENO:0074575", + "UBERON:0010758", + "UBERON:0011582", + "UBERON:0000154", + "UBERON:0004249", + "HP:0001903", + "UBERON:0004381", + "UBERON:0012140", + "HP:0001263", + "UBERON:0002355", + "GO:0032501", + "UBERON:0005451", + "UPHENO:0018390", + "UBERON:0010708", + "UBERON:0001456", + "UBERON:0004921", + "UBERON:0004121", + "UPHENO:0001072", + "UBERON:0000025", + "HP:0004378", "HP:0000119", - "HP:0000152", - "HP:0000077", - "UPHENO:0002905", - "UPHENO:0083951", - "UPHENO:0026023", - "HP:0012733", - "UPHENO:0002708", - "UPHENO:0080099", - "UPHENO:0002833", - "UPHENO:0026181", - "UPHENO:0080165", - "HP:0002921", - "UPHENO:0061854", - "HP:0008684", + "UBERON:0008962", + "HP:0009815", + "HP:0033127", + "UBERON:0015024", + "NCBITaxon:1", + "UPHENO:0008523", + "UPHENO:0075219", + "UPHENO:0021802", + "UBERON:0008811", + "UBERON:0001434", + "UPHENO:0049367", + "UBERON:0001690", + "UPHENO:0022529", + "UBERON:0002387", + "HP:0008050", + "UPHENO:0003053", + "UBERON:0002091", + "UPHENO:0003020", + "UBERON:0010712", + "UBERON:0012475", + "UPHENO:0081099", + "HP:0009822", + "CL:0000764", + "UBERON:0010538", + "HP:0005920", + "UPHENO:0081790", "HP:0009777", - "UPHENO:0076740", - "UPHENO:0076760", - "HP:0011024", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0087816", - "UPHENO:0086633", + "UBERON:0005282", + "UPHENO:0020651", "HP:0045060", - "HP:0003319", - "HP:0009601", - "PATO:0000001", - "UPHENO:0026028", - "UPHENO:0049700", + "HP:0000929", + "UBERON:0004765", + "UPHENO:0080377", + "UBERON:0010740", + "UBERON:0012354", + "HP:0011844", + "UPHENO:0011498", + "HP:0007018", + "UBERON:0010912", + "UPHENO:0002803", + "HP:0001317", + "UBERON:0003100", + "HP:0012252", + "GO:0006338", + "HP:0000238", + "GO:0009889", + "UPHENO:0078606", + "UPHENO:0002896", + "UBERON:0004742", + "UBERON:0002100", + "UPHENO:0002727", + "HP:0012372", "HP:0005927", - "HP:0010938", - "UPHENO:0087643", - "UPHENO:0072194", - "UPHENO:0075878", - "HP:0006496", - "HP:0000356", - "UPHENO:0014240", - "HP:0002031", - "UPHENO:0084448", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0079876", - "UPHENO:0002880", - "UPHENO:0002830", + "UBERON:0000970", + "UPHENO:0075902", + "UPHENO:0027575", + "UPHENO:0026183", + "UPHENO:0080300", + "UPHENO:0041226", + "UPHENO:0079826", + "UBERON:0006983", + "UBERON:0012141", "UPHENO:0080126", - "UPHENO:0084766", - "UPHENO:0088186", + "UBERON:0000004", + "GO:0040029", + "HP:0012733", + "GO:0006325", + "UPHENO:0002905", + "UPHENO:0069196", + "UBERON:0000019", + "UBERON:5001463", + "UPHENO:0019613", + "BFO:0000141", + "HP:0006265", + "UPHENO:0084447", "UPHENO:0002901", - "HP:0009815", - "UPHENO:0011498", - "UPHENO:0006910", - "UPHENO:0002642", - "UPHENO:0080325", - "UPHENO:0046571", - "HP:0001172", - "UPHENO:0026506", - "UPHENO:0084763", - "UPHENO:0018414", - "UPHENO:0081328", - "HP:0030669", - "HP:0004590", - "UPHENO:0076695", - "UPHENO:0054970", - "HP:0034261", - "HP:0005107", - "UPHENO:0069391", - "HP:0008518", - "HP:0025461", - "UPHENO:0076805", - "HP:0000050", - "UPHENO:0076735", - "HP:0000130", - "UPHENO:0020748", - "UPHENO:0002725", - "UPHENO:0088047", - "HP:0012718", - "UPHENO:0002635", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0026980", - "UPHENO:0056212", - "HP:0012243", - "HP:0005607", - "HP:0025033", - "UPHENO:0088162", - "HP:0000953", - "HP:0000347", - "HP:0025031", - "HP:0000377", - "UPHENO:0076803", - "UPHENO:0085068", - "UPHENO:0009382", - "HP:0000238", - "UPHENO:0087433", - "UPHENO:0087430", - "UPHENO:0056333", - "UPHENO:0006161", - "HP:0002118", - "HP:0007360", - "UPHENO:0076766", - "UPHENO:0076702", - "HP:0012443", - "UPHENO:0026183", + "CL:0000081", + "UPHENO:0082129", + "HP:0032039", + "GO:0010605", + "UPHENO:0049622", + "UBERON:0001555", + "UBERON:0035639", + "UBERON:0001463", + "HP:0002814", + "UBERON:0003463", + "UBERON:0000161", + "HP:0005918", + "UBERON:0001711", + "HP:0001167", + "UBERON:0001460", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0000020", + "HP:0000492", + "UPHENO:0063603", + "UPHENO:0080111", + "UPHENO:0008593", + "UBERON:0008907", + "HP:0000924", + "UPHENO:0005016", + "UPHENO:0076761", + "HP:0000036", + "UPHENO:0005433", + "UPHENO:0082682", + "GO:0008152", + "UPHENO:0049874", + "PATO:0000001", + "UBERON:0007811", + "UPHENO:0020584", + "UBERON:0006333", + "UBERON:0002513", + "UPHENO:0020853", + "UBERON:0004086", + "UBERON:0034921", + "UBERON:0003620", + "UBERON:5102389", + "UBERON:0013765", + "UBERON:0004247", + "UPHENO:0076720", + "UPHENO:0002433", + "UBERON:0004088", + "UBERON:0004710", + "UPHENO:0076692", + "UBERON:0015203", + "UPHENO:0081095", + "HP:0030669", + "UBERON:0007842", + "UBERON:0004456", + "UPHENO:0068971", + "HP:0000234", + "UBERON:0001558", + "UBERON:0000061", + "UPHENO:0026023", + "HP:0000152", + "RO:0002577", + "UPHENO:0081786", + "UBERON:0012360", + "UPHENO:0081581", + "HP:0000271", + "HP:0003221", + "UBERON:0002104", + "NBO:0000030", + "GO:0031049", + "UPHENO:0080079", + "HP:0000582", + "UBERON:0001032", + "HP:0001321", + "UPHENO:0002903", + "UBERON:0002413", + "UPHENO:0076727", + "UPHENO:0002332", + "UPHENO:0074584", + "HP:0012638", + "UBERON:0006075", + "UBERON:0004923", + "UPHENO:0075997", + "UBERON:0013515", + "UPHENO:0050121", + "GO:0050789", + "HP:0011297", + "HP:0009825", + "UPHENO:0015280", + "UPHENO:0021284", + "UPHENO:0050008", + "HP:0011446", + "UPHENO:0056237", + "UBERON:0001444", + "GO:0031327", + "HP:0005922", + "UBERON:0001016", + "GO:0010558", + "NBO:0000243", + "CL:0000763", + "UBERON:0006717", + "UBERON:0015063", + "UBERON:0004120", + "UPHENO:0009305", "HP:0040068", - "UPHENO:0056072", - "HP:0009380", - "HP:0002086", - "UPHENO:0060026", - "HP:0001511", + "UBERON:0000063", + "HP:0008772", + "UPHENO:0081091", + "UBERON:0003975", + "UPHENO:0072195", + "UBERON:0005174", + "HP:0000736", + "UPHENO:0076803", + "UBERON:0003221", + "UBERON:0008784", + "UBERON:0034923", + "UPHENO:0001001", + "NBO:0000455", + "UBERON:0001442", + "GO:0050794", + "UBERON:0002097", + "HP:0010461", + "GO:0010468", + "UBERON:0001062", + "HP:0008678", + "HP:0002032", + "UBERON:0004111", + "UBERON:0010688", + "HP:0000752", + "HP:0012447", + "GO:0008150", + "UBERON:0015061", + "UPHENO:0079876", + "UBERON:0009569", + "UBERON:0002101", + "UPHENO:0068984", + "UBERON:0006800", + "UPHENO:0026628", + "UPHENO:0081314", + "HP:0040012", + "UBERON:0013701", + "UBERON:0000465", + "UBERON:0010314", + "UPHENO:0019987", + "BFO:0000003", + "GO:0009892", + "HP:0001172", + "UPHENO:0084457", + "HP:0011314", + "UBERON:0011138", + "GO:0043933", + "UBERON:0002471", + "UBERON:0010323", + "UBERON:0000479", "UPHENO:0000543", - "UPHENO:0081784", - "UPHENO:0008523", - "UPHENO:0050008", - "HP:0001034", - "HP:0009823", - "HP:0000957", - "UPHENO:0002907", - "HP:0002011", - "UPHENO:0074575", + "UPHENO:0076718", + "GO:0009987", + "UPHENO:0049873", + "HP:0025354", + "GO:0005623", + "HP:0003220", + "UPHENO:0075878", + "GO:0031326", + "UBERON:0000026", + "BFO:0000040", + "UPHENO:0080158", + "UPHENO:0054957", + "UPHENO:0001005", + "UPHENO:0027515", + "GO:0071840", + "UPHENO:0081436", + "UBERON:0010230", + "UPHENO:0081466", + "UPHENO:0076703", + "HP:0005607", + "GO:0019222", + "HP:0002813", + "GO:0010556", + "UPHENO:0026509", + "UBERON:0004708", + "UPHENO:0002642", + "GO:0071824", + "UPHENO:0082875", + "HP:0007360", + "UBERON:0005172", + "UPHENO:0076723", + "HP:0011968", + "HP:0000369", + "CL:0000000", + "HP:0012210", + "UPHENO:0005986", + "BFO:0000001", + "HP:0009115", + "UBERON:0006314", + "UPHENO:0014240", + "UBERON:0000153", + "UBERON:0011159", + "HP:0002575", + "UPHENO:0002844", + "UBERON:0011676", + "HP:0000153", "HP:0002692", - "UPHENO:0076730", - "UPHENO:0050121", - "UPHENO:0074572", - "UPHENO:0025875", - "UPHENO:0080377", - "UPHENO:0080221", - "UPHENO:0025100", - "HP:0025668", - "UPHENO:0076739", - "BFO:0000020", - "UPHENO:0059829" + "HP:0000357", + "UPHENO:0080110", + "GO:0031324", + "UBERON:0000467", + "UBERON:0001691", + "UBERON:0010000", + "GO:0010629", + "UBERON:0000468", + "BFO:0000015", + "UPHENO:0027467", + "UBERON:0002553", + "UBERON:0003466", + "UBERON:0005913", + "UPHENO:0063599", + "HP:0000122", + "UPHENO:0002536", + "UBERON:0000989", + "HP:0000707", + "UPHENO:0049700", + "UBERON:0000475" ], "has_phenotype_closure_label": [ - "delayed central nervous system myelination", + "decreased size of the kidney", + "abnormal size of kidney", + "kidney hypoplasia", + "bone marrow", + "Abnormality of the immune system (HPO)", + "Bone marrow hypocellularity (HPO)", + "bone marrow cell", + "abnormal immune system", + "nasal bridge", + "increased width of nasal bridge", + "increased width of the anatomical entity in independent continuant", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Microphthalmia (HPO)", + "Abnormality of globe size (HPO)", + "Delayed CNS myelination (HPO)", + "Delayed myelination (HPO)", + "delayed biological_process in central nervous system", + "gliogenesis", + "abnormal central nervous system myelination in independent continuant", + "abnormal myelination in independent continuant", + "abnormal biological_process in nervous system", + "snout", + "abnormal myelination", + "oligodendrocyte differentiation", + "myelination", + "glial cell differentiation", + "glial cell development", + "axon ensheathment", + "abnormal central nervous system myelination", + "ensheathment of neurons", + "cellular developmental process", + "delayed biological_process in independent continuant", + "absent anatomical entity in the renal system", + "Abnormality of the urinary system (HPO)", + "renal system", + "excretory system", + "abdomen element", + "cavitated compound organ", + "Unilateral renal agenesis (HPO)", + "abnormal kidney", "absent kidney", - "absent kidney in the independent continuant", - "Unilateral renal agenesis", - "Abnormal nasal tip morphology", - "abnormal external nose morphology", + "Renal agenesis (HPO)", + "abdomen", + "abnormal kidney morphology", + "Renal hypoplasia/aplasia (HPO)", + "abnormal upper urinary tract", + "upper urinary tract", + "absent kidney in the renal system", + "Abnormality of the upper urinary tract (HPO)", + "abnormal renal system", + "Abnormal renal morphology (HPO)", + "native cell", + "hemolymphoid system", + "hematopoietic system", + "erythroid lineage cell", + "eukaryotic cell", + "oxygen accumulating cell", + "Abnormal cell morphology (HPO)", + "myeloid cell", + "blood cell", + "Abnormal erythroid lineage cell morphology (HPO)", + "animal cell", + "erythrocyte", + "somatic cell", + "Abnormal myeloid cell morphology (HPO)", + "Abnormality of the nose (HPO)", + "Abnormal nasal morphology (HPO)", + "anatomical point", + "curvature anatomical entity", + "Abnormality of the nasal tip (HPO)", + "abnormal nose tip", + "curvature anatomical entity in independent continuant", + "nose", + "flat anatomical entity in independent continuant", + "abnormal male reproductive organ morphology", + "male organism", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "penis", + "Abnormal penis morphology (HPO)", + "Micropenis (HPO)", + "external male genitalia", + "external genitalia", + "Growth abnormality (HPO)", + "abnormal external genitalia", "decreased size of the penis", - "Abnormal external genitalia", - "Micropenis", - "abnormal external male genitalia morphology", + "abnormal nose morphology", + "Hypoplastic male external genitalia (HPO)", + "abnormal penis", + "external male genitalia hypoplasia", "abnormal male reproductive system", - "penis hypoplasia", - "abnormal external male genitalia", - "abnormal male reproductive system morphology", - "abnormal male reproductive organ morphology", - "Abnormality of male external genitalia", - "abnormal incomplete closing of the secondary palate", - "Craniofacial cleft", - "abnormal incomplete closing of the anatomical entity", - "External genital hypoplasia", - "Abnormal palate morphology", + "hard palate", + "absent anatomical entity", + "roof of mouth", + "abnormal location of anatomical entity", "abnormal oral cavity morphology", - "abnormal opening of the anatomical entity", - "Abnormal cerebellum morphology", - "Abnormality of the male genitalia", - "decreased size of the cerebellum", - "Aplasia/Hypoplasia of the cerebellum", - "Abnormal hindbrain morphology", - "abnormal anatomical entity morphology in the brain", + "Abnormality of the midface (HPO)", + "abnormal midface", + "Orofacial cleft", + "pectoral appendage", + "Abnormality of the neck (HPO)", + "abnormal incomplete closing of the anatomical entity", + "abnormal secondary palate morphology", + "Hypertelorism (HPO)", + "hindbrain", + "cerebellum", + "Opisthokonta", + "Abnormality of blood and blood-forming tissues (HPO)", + "regional part of brain", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "Abnormal external genitalia (HPO)", + "Global developmental delay (HPO)", + "abnormal hindbrain morphology", + "transudate", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "absent radius bone in the independent continuant", + "Eukaryota", + "alimentary part of gastrointestinal system", + "Aplasia/Hypoplasia of the cerebellum (HPO)", "abnormal cerebellum morphology", - "Abnormality of digestive system physiology", + "root", + "aplasia or hypoplasia of cerebellum", + "abnormal metencephalon morphology", "abnormality of digestive system physiology", + "external soft tissue zone", + "absent anatomical entity in the ear", + "Esophageal atresia (HPO)", "alimentary part of gastrointestinal system atresia", - "Neurodevelopmental delay", - "Neurodevelopmental abnormality", - "abnormal female reproductive system", - "Abnormal morphology of female internal genitalia", - "Abnormality of the genital system", - "abnormal female reproductive system morphology", + "Neurodevelopmental delay (HPO)", + "Neurodevelopmental abnormality (HPO)", + "Abnormal digit morphology (HPO)", + "Abnormality of the lower limb (HPO)", + "Abnormality of the genital system (HPO)", + "abnormal anatomical entity morphology in the brain", "abnormal internal female genitalia morphology", - "absent uterus", - "abnormal female reproductive organ morphology", - "Aplasia/hypoplasia of the uterus", + "female organism", + "Abnormality of male external genitalia (HPO)", + "chromatin remodeling", + "abnormal genitourinary system", "absent anatomical entity in the reproductive system", - "Aplasia of the uterus", - "Abnormality of the uterus", - "aplasia or hypoplasia of uterus", - "Anotia", - "absent external ear in the independent continuant", - "decreased developmental process", + "uterus", + "abnormal reproductive system morphology", + "Abnormality of the cerebrospinal fluid (HPO)", + "absent uterus", + "Abnormal erythrocyte morphology (HPO)", + "abnormal internal genitalia", + "Abnormal eye morphology (HPO)", + "oviduct", + "subdivision of oviduct", + "decreased biological_process", + "Aplasia of the uterus (HPO)", + "absent external ear", + "multicellular organism development", + "Anotia (HPO)", + "agenesis of anatomical entity", + "absent external ear in the head", + "visual system", + "limb bone", + "thoracic segment organ", + "absent anatomical entity in the head", + "decreased qualitatively developmental process", + "decreased qualitatively biological_process", + "abnormal embryo development", + "oligodendrocyte development", + "developmental process", "decreased embryo development", - "abnormal developmental process", - "aplasia or hypoplasia of cerebellum", + "absent manual digit", + "changed embryo development rate", + "anatomical structure development", + "Abnormality of hindbrain morphology (HPO)", + "abnormal anatomical entity morphology", + "Abnormality of long bone morphology (HPO)", "changed developmental process rate", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "Abnormal upper limb bone morphology", - "Absent radius", - "Abnormal morphology of the radius", - "Aplasia/Hypoplasia of the radius", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal long bone morphology", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "absent radius bone in the forelimb", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormal jaw morphology", - "aplasia or hypoplasia of mandible", - "cerebellum hypoplasia", - "Abnormal skull morphology", - "Abnormality of the mouth", - "abnormal head bone morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal jaw skeleton morphology", + "decreased developmental process", + "cellular component organization or biogenesis", + "Absent radius (HPO)", + "Aplasia involving forearm bones (HPO)", "bone element hypoplasia in face", - "abnormal embryo development", - "abnormal mouth morphology", - "shape nose tip", + "Aplasia involving bones of the extremities (HPO)", + "Abnormal palate morphology (HPO)", + "esophagus atresia", + "Abnormality of forearm bone (HPO)", + "digit 1", + "upper jaw region", + "Abnormal oral morphology (HPO)", + "forelimb zeugopod skeleton", + "Abnormality of the radius (HPO)", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", + "aplastic forelimb zeugopod bone", + "abnormal respiratory tube morphology", + "radius endochondral element", + "increased biological_process", + "arm bone", + "abnormal anatomical entity morphology in the skeleton of manus", + "absent radius bone in the forelimb", + "absent anatomical entity in the forelimb", + "phalanx endochondral element", + "absent radius bone", + "Absent forearm bone (HPO)", + "dermal bone", + "jaw skeleton", + "abnormal digit", + "facial bone", + "body proper", + "Abnormality of the digestive system (HPO)", + "abnormal forelimb zeugopod", + "Abnormality of the ear (HPO)", + "dermal skeletal element", "anatomical entity hypoplasia in face", - "abnormal facial skeleton morphology", - "Bilateral talipes equinovarus", - "Talipes equinovarus", - "Abnormality of the lower limb", - "Abnormal foot morphology", - "abnormal genitourinary system", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "delayed biological_process in independent continuant", - "Renal hypoplasia/aplasia", - "abnormal renal system morphology", - "Abnormality of the genitourinary system", - "kidney hypoplasia", - "abnormal renal system", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "Abnormal renal morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "external male genitalia hypoplasia", - "Bone marrow hypocellularity", - "abnormal immune system", - "Abnormality of the immune system", - "abnormal bone marrow cell morphology", - "Abdominal symptom", - "Wide nasal bridge", - "abnormal nose", - "abnormal midface morphology", - "abnormal nose morphology", - "increased width of the anatomical entity in independent continuant", - "increased width of anatomical entity", - "Abnormal nasal bridge morphology", - "abnormal size of eyeball of camera-type eye", - "Abnormal myelination", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal penis morphology", - "Abnormality of globe size", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal myelination", - "Depressed nasal tip", - "abnormal erythrocyte morphology", - "Abnormal myeloid cell morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal bone marrow cell", - "Anemia", - "Esophageal atresia", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", - "Abnormality of the urinary system", - "increased length of the anatomical entity", - "curvature anatomical entity", + "trachea", + "Abnormal hand morphology (HPO)", + "mouth", + "bone of lower jaw", + "primary subdivision of skull", + "face", + "decreased size of the external male genitalia", + "absent kidney in the independent continuant", + "abnormal skull morphology", + "head bone", + "Abnormality of limbs (HPO)", + "Aplasia/Hypoplasia of facial bones (HPO)", + "decreased size of the eyeball of camera-type eye", + "Abnormal skull morphology (HPO)", + "Abnormality of the female genitalia (HPO)", + "pelvic region of trunk", + "Abnormality of the mouth (HPO)", + "abnormal programmed DNA elimination by chromosome breakage", + "digitopodium bone", + "organism substance", + "reproductive organ", + "manual digit phalanx endochondral element", + "Aplasia/Hypoplasia involving the vertebral column (HPO)", + "jaw region", + "neural crest-derived structure", + "facial skeleton", + "skull", + "Abnormal jaw morphology (HPO)", + "epiphysis of phalanx of manus", + "abnormal mandible morphology", + "regulation of macromolecule biosynthetic process", + "anatomical space", + "abnormal respiratory system", + "oral cavity", + "aplasia or hypoplasia of mandible", + "Aplasia involving bones of the upper limbs (HPO)", + "dentary", + "abnormal location of external ear", + "hindlimb", + "Aplasia/Hypoplasia of the radius (HPO)", + "pelvic complex", + "organism", + "ventricle of nervous system", + "abnormal biological_process in independent continuant", + "Gastrointestinal atresia (HPO)", "abnormal pes morphology", - "abnormal upper urinary tract", - "Abnormality of the eye", - "abnormal nasal bridge morphology", - "Hypertelorism", + "negative regulation of macromolecule biosynthetic process", + "ear", + "Cerebellar hypoplasia (HPO)", + "leg", + "pes", + "Abnormal foot morphology (HPO)", + "skeletal system", + "delayed biological_process", + "growth", + "Abnormal hard palate morphology (HPO)", + "delayed growth", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", "increased anatomical entity length in independent continuant", - "absent external ear", + "absent epiphysis in the independent continuant", "abnormal location of eyeball of camera-type eye", - "abnormal growth", - "delayed growth", - "Growth delay", - "delayed biological_process", - "absent anatomical entity in the renal system", - "Abnormality of the upper limb", - "absent anatomical entity in the ear", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "abnormal manual digit morphology in the independent continuant", - "Abnormality of digestive system morphology", - "abnormal limb", - "abnormal behavior", - "decreased size of the kidney", - "Abnormal eye morphology", - "external ear hypoplasia", - "Hypoplastic sacrum", - "Abnormality of the respiratory system", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "abnormal fused sacrum morphology", - "Abnormality of the ear", - "Intrauterine growth retardation", - "changed embryo development rate", - "abnormal manual digit 1 morphology", - "abnormal external ear", - "Talipes", - "abnormal cerebrospinal fluid morphology", - "decreased length of anatomical entity", + "dermal skeleton", + "immaterial entity", + "increased size of the anatomical entity", + "non-material anatomical boundary", + "bone of appendage girdle complex", + "skeleton of lower jaw", + "increased length of the anatomical line between pupils", "aplasia or hypoplasia of ear", - "Aplasia/Hypoplasia of the ear", - "abnormal neck morphology", - "abnormal forelimb morphology", - "esophagus atresia", - "absent radius bone", - "anatomical entity hypoplasia", - "absent anatomical entity in the head", - "decreased biological_process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "flattened anatomical entity in independent continuant", - "abnormal palpebral fissure", - "shape anatomical entity in independent continuant", - "aplasia or hypoplasia of anatomical entity", - "abnormal arm", - "flat anatomical entity in independent continuant", - "absent anatomical entity in the forelimb", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "Abnormal pinna morphology", - "abnormal hindlimb morphology", - "increased pigmentation in skin of body", - "anatomical entity hypoplasia in independent continuant", - "Abnormality of the musculoskeletal system", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplastic forelimb zeugopod bone", - "aplasia or hypoplasia of fused sacrum", - "Cafe-au-lait spot", - "decreased size of the anatomical entity", - "Abnormal mandible morphology", - "Abnormal midface morphology", - "absent anatomical entity in the limb", - "Orofacial cleft", - "Morphological abnormality of the gastrointestinal tract", - "decreased length of anatomical entity in independent continuant", - "curvature anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal external ear morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "abnormal skull morphology", - "abnormal response to stimulus", - "Microphthalmia", + "anatomical line", + "hematopoietic cell", + "Abnormality of the eye (HPO)", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "anus atresia", + "Abnormality of limb epiphysis morphology (HPO)", + "anatomical entity atresia", + "Abnormality of the anus (HPO)", + "Anorectal anomaly (HPO)", + "Anal atresia (HPO)", + "abnormal head bone morphology", + "abnormal leg", + "Intrauterine growth retardation (HPO)", + "abnormal anus morphology", + "eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "Abnormal cerebral ventricle morphology (HPO)", + "Abnormality of skin morphology (HPO)", + "increased qualitatively biological_process in independent continuant", + "integument", + "lower respiratory tract", + "abnormal pigmentation", + "increased pigmentation in independent continuant", + "pigmentation", + "abnormal anus", + "Macule (HPO)", + "manual digitopodium bone", + "increased biological_process in independent continuant", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "abnormal eyeball of camera-type eye", + "abnormal mouth", + "abnormal pigmentation in independent continuant", + "Abnormality of the skin (HPO)", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "zeugopodial skeleton", + "mandible", + "abnormal hematopoietic system", + "Low-set ears (HPO)", + "increased pigmentation", + "multi organ part structure", + "Cleft palate (HPO)", + "Irregular hyperpigmentation (HPO)", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "external nose", + "Localized skin lesion (HPO)", + "abnormal integument", + "Webbed neck (HPO)", + "negative regulation of cellular metabolic process", + "Decreased anatomical entity position", + "cell differentiation", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "abnormal location of ear", + "Abnormal neck morphology (HPO)", + "cervical region of vertebral column", + "cervical vertebra", + "abnormal nasal bridge morphology", + "dorsal part of neck", + "vertebral element", + "digestive system element", + "trunk or cervical vertebra", + "neck bone", + "Abnormality of the external nose (HPO)", + "Anemia (HPO)", + "cervical region", + "Feeding difficulties (HPO)", + "abnormal mouth morphology", + "decreased length of neck", + "neck", + "Hydrocephalus (HPO)", + "internal genitalia", + "abnormal neck", + "membrane bone", + "Abnormality of globe location (HPO)", "abnormal skeletal system", - "Abnormal neck morphology", - "aplasia or hypoplasia of manual digit 1", - "abnormal vertebral column", - "fused sacrum hypoplasia", - "abnormal number of anatomical enitites of type anatomical entity", - "aplasia or hypoplasia of vertebral column", - "abnormal head", + "Abnormal nervous system morphology (HPO)", + "organ component layer", + "cerebrospinal fluid", + "autopod bone", + "cerebellum hypoplasia", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal external male genitalia morphology", + "abnormal nervous system morphology", + "abnormal female reproductive system", + "anatomical structure", "abnormally increased number of anatomical entity in the independent continuant", - "Abnormality of the face", - "Abnormal anus morphology", - "abnormal snout morphology", - "abnormal face", - "Aplasia/Hypoplasia of the thumb", + "aplasia or hypoplasia of uterus", + "abnormal cerebrospinal fluid", + "abnormal metabolic process", + "abnormal brain morphology", + "penis hypoplasia", + "bone of pectoral complex", + "abnormal developmental process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormally increased number of anatomical entity", + "abnormal central nervous system morphology", + "facial bone hypoplasia", + "abnormal axon ensheathment in central nervous system in independent continuant", + "aplasia or hypoplasia of manual digit", + "Decreased external ear position", + "tube", + "respiratory tract", + "Metazoa", + "abnormal tracheobronchial tree morphology", + "Abnormal internal genitalia (HPO)", + "abnormal growth", + "absent anatomical entity in the multicellular organism", + "increased biological_process in skin of body", + "Abnormal cerebellum morphology (HPO)", + "respiratory system", + "increased width of anatomical entity", + "Hypoplastic facial bones (HPO)", + "respiratory tube", + "Tracheoesophageal fistula (HPO)", + "kidney", + "respiratory airway", + "abnormal trachea morphology", + "upper digestive tract", + "Abnormal ocular adnexa morphology (HPO)", + "anatomical cavity", + "thoracic cavity element", + "increased qualitatively biological_process", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal alimentary part of gastrointestinal system", + "abnormal external male genitalia", + "digestive tract", + "integumental system", + "viscus", + "voluntary movement behavior phenotype", + "esophagus", + "attention behavior", + "decreased length of anatomical entity", "quality", - "Slanting of the palpebral fissure", - "abnormal cellular process", + "abnormal digestive system morphology", + "Abnormality of the vertebral column (HPO)", + "thoracic segment of trunk", + "Abnormal finger phalanx morphology (HPO)", + "Depressed nasal tip (HPO)", + "anatomical line between pupils", + "system development", + "ocular adnexa", + "abnormal digestive system", + "aplastic manual digit 1", + "subdivision of digestive tract", + "endoderm-derived structure", + "negative regulation of cellular biosynthetic process", + "Abnormality of the respiratory system (HPO)", + "dorsal region element", + "axon ensheathment in central nervous system", + "aplasia or hypoplasia of fused sacrum", + "Aplasia/hypoplasia of the uterus (HPO)", + "abnormal epiphysis morphology in the independent continuant", + "Hypoplastic sacrum (HPO)", + "abnormal craniocervical region", + "pelvic region element", + "male reproductive organ", + "obsolete cell", + "Abnormal nervous system physiology (HPO)", + "appendage", + "subdivision of vertebral column", + "Abnormal metencephalon morphology (HPO)", + "postcranial axial skeleton", + "vertebra", + "axial skeleton plus cranial skeleton", + "abnormal ear morphology", + "abnormal long bone morphology", + "paired limb/fin skeleton", + "digit 1 digitopodial skeleton", + "postcranial axial skeletal system", + "subdivision of tube", + "multicellular organism", + "abnormal fused sacrum morphology", + "abnormal nose tip morphology", + "cognitive behavior", + "dorsum", + "manus bone", + "Abnormality of the male genitalia (HPO)", + "Abnormal morphology of female internal genitalia (HPO)", + "Abnormality of the integument (HPO)", + "Abnormal sacrum morphology (HPO)", + "nose tip", + "skeletal element", + "absent uterus in the independent continuant", + "abnormal esophagus morphology", + "sacral region", + "decreased size of the mandible", "abnormal biological_process in central nervous system", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Hypoplastic male external genitalia", - "Abnormal cell morphology", + "abnormal DNA metabolic process", + "forelimb", + "autopodial skeleton", + "sacral region of vertebral column", + "acropodial skeleton", + "individual digit of digitopodial skeleton", + "regulation of biological process", + "digit", + "Abnormality of the head (HPO)", + "abdominal segment of trunk", + "abnormal limb", + "abnormal arm", + "abnormal bone of pectoral complex morphology", + "system", + "abnormal development of anatomical entity", + "trunk region element", + "anatomical entity", + "regulation of macromolecule metabolic process", + "pectoral complex", + "central nervous system myelination", + "digit 1 or 5", + "brain", + "manual digitopodium region", + "absent anatomical entity in the independent continuant", + "Short neck (HPO)", + "increased size of the anatomical entity in independent continuant", + "bone cell", + "nervous system development", + "biological_process", + "protein-containing material entity", + "subdivision of skeleton", + "midface", + "segmental subdivision of hindbrain", + "absent epiphysis of phalanx of manus in the phalanx of manus", "phenotype", - "abnormal hindbrain morphology", + "Talipes equinovarus (HPO)", + "abnormal manus", + "abnormal face", + "absent anatomical entity in the phalanx of manus", + "vertebral column", + "zone of long bone", + "arm", + "abnormal nose", + "long bone", + "main body axis", + "manual digit", + "cranial skeletal system", + "abnormal vertebral column morphology", + "organism subdivision", + "vestibulo-auditory system", + "forelimb endochondral element", + "abnormal manual digit 1 morphology", + "male reproductive system", + "secondary palate", + "digestive system", + "abdominal segment element", + "Abnormal tracheal morphology (HPO)", + "pectoral appendage skeleton", + "female reproductive system", + "skeleton of manual acropodium", + "Aplasia/Hypoplasia of fingers (HPO)", + "forelimb zeugopod bone", + "manual digit digitopodial skeleton", + "Abnormality of the gastrointestinal tract (HPO)", + "Phenotypic abnormality (HPO)", + "process", + "organ system subdivision", + "central nervous system", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal incomplete closing of the secondary palate", + "organ", + "bone of jaw", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", + "fused sacrum hypoplasia", + "limb long bone", + "manual digit bone", + "abnormal cellular metabolic process", + "ventricular system of central nervous system", + "acropodium region", + "abnormal brain ventricle morphology", + "Abnormal respiratory system morphology (HPO)", + "digitopodium region", + "Abnormal reproductive system morphology (HPO)", + "immaterial anatomical entity", + "Abnormality of head or neck (HPO)", + "endochondral element", + "central nervous system development", + "bone element", + "Abnormal location of ears (HPO)", + "bodily fluid", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal opening of the anatomical entity", + "abnormal limb bone morphology", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "orifice", + "zone of organ", + "Abnormal hand epiphysis morphology (HPO)", + "posterior region of body", + "cervical vertebra endochondral element", + "aplasia or hypoplasia of eyeball of camera-type eye", + "independent continuant", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "flattened anatomical entity", + "Morphological central nervous system abnormality (HPO)", + "upper limb segment", + "absent anatomical entity in the female reproductive system", + "anatomical wall", + "trunk", + "abnormal ear", + "digit 1 plus metapodial segment", + "cell", + "Absent epiphyses (HPO)", + "brain ventricle/choroid plexus", + "Abnormal appendicular skeleton morphology (HPO)", + "sense organ", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "abnormal anatomical entity morphology in the manus", + "subdivision of organism along appendicular axis", + "absent manual digit 1", + "Abnormal skeletal morphology (HPO)", + "limb skeleton subdivision", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "abnormal vertebral column", + "manual digit 1 digitopodial skeleton", + "segmental subdivision of nervous system", + "abnormal skin of body", + "palpebral fissure", + "abnormal external nose", + "Aplasia/Hypoplasia of the sacrum (HPO)", + "appendicular skeleton", + "absent anatomical entity in the limb", + "zone of bone organ", + "abnormal size of eyeball of camera-type eye", + "Positional foot deformity (HPO)", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "paired limb/fin", + "External genital hypoplasia (HPO)", + "anatomical collection", + "decreased size of the cerebellum", + "Growth delay (HPO)", + "abnormal phalanx of manus morphology", + "aplastic anatomical entity", + "subdivision of head", + "Abnormality of epiphysis morphology (HPO)", + "abnormal cervical vertebra", + "abnormal number of anatomical enitites of type anatomical entity", + "female reproductive organ", + "Abnormality of the hand (HPO)", "absent digit", - "abnormal behavior process", - "abnormal cell", - "abnormal reproductive system", - "Abnormality of head or neck", - "entity", - "abnormal size of kidney", - "Abnormal eyelid morphology", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "Abnormal facial skeleton morphology (HPO)", + "segment of autopod", + "aplasia or hypoplasia of vertebral column", + "abnormal appendicular skeleton morphology", + "skeleton", + "Abnormal cellular physiology (HPO)", + "abnormal radius bone", + "digit plus metapodial segment", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Wide nasal bridge (HPO)", + "appendage girdle complex", + "Aplasia/Hypoplasia of the external ear (HPO)", + "manual digit plus metapodial segment", + "abnormal nervous system", + "Abdominal symptom (HPO)", + "lateral structure", + "Abnormality of brain morphology (HPO)", + "limb", + "endochondral bone", + "brain ventricle", + "multi-limb segment region", + "Abnormality of digestive system physiology (HPO)", + "material anatomical entity", + "abnormal epiphysis morphology in the skeleton of manus", + "Absent epiphyses of the thumb (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "Abnormality of the uterus (HPO)", + "cell development", + "All (HPO)", + "hyperactivity", + "abnormal epiphysis morphology", + "abnormal cellular component organization", + "absent anatomical entity in the skeletal system", + "appendicular skeletal system", + "irregular bone", + "abnormal epiphysis of phalanx of manus morphology", + "intromittent organ", + "aplasia or hypoplasia of anatomical entity", + "Abnormal pinna morphology (HPO)", + "abnormal external ear morphology", + "aplasia or hypoplasia of external ear", + "flattened anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "biological regulation", + "decreased size of the external ear", + "axial skeletal system", + "skeleton of manual digitopodium", + "Abnormal myelination (HPO)", + "occurrent", + "epiphysis", + "Abnormal oral cavity morphology (HPO)", + "Abnormal nasal bridge morphology (HPO)", + "abnormal skeletal system morphology", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "abnormal anatomical entity morphology in the independent continuant", + "segment of manus", + "Microtia (HPO)", + "Abnormality of limb bone morphology (HPO)", + "external ear hypoplasia", + "epiphysis of phalanx", + "skeleton of manus", + "abnormal shape of external ear", + "Abnormality of thumb epiphysis (HPO)", + "abnormal postcranial axial skeleton morphology", + "manual digit 1 plus metapodial segment", + "Abnormality of the palpebral fissures (HPO)", + "metencephalon", + "Abnormal thumb morphology (HPO)", + "Abnormal upper limb bone morphology (HPO)", + "programmed DNA elimination by chromosome breakage", + "abnormal orbital region", + "delayed myelination", + "autopodial extension", + "eyelid", + "multi-tissue structure", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "decreased length of anatomical entity in independent continuant", + "phalanx of manus", + "autopod endochondral element", + "Talipes (HPO)", + "structure with developmental contribution from neural crest", + "regional part of nervous system", + "shape anatomical entity", + "abnormal head", + "forelimb bone", + "simple eye", + "immune system", + "organ part", + "abnormal uterus", + "Abnormality of the ocular adnexa (HPO)", + "abnormal shape of continuant", + "aplasia or hypoplasia of manual digit 1", + "absent epiphysis of phalanx of manus in the independent continuant", "mandible hypoplasia", - "Microtia", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Atypical behavior", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Morphological central nervous system abnormality", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal craniocervical region morphology", - "continuant", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormal forearm morphology", - "decreased size of the mandible", - "abnormal anatomical entity", - "abnormal external genitalia", + "behavior", + "anatomical conduit", + "orbital region", + "Abnormal axial skeleton morphology (HPO)", "abnormal size of anatomical entity", + "regulation of cellular metabolic process", + "abnormal multicellular organism morphology", + "Behavioral abnormality (HPO)", + "manual digit 1 phalanx endochondral element", + "Upslanted palpebral fissure (HPO)", + "abnormal behavior process", + "Bilateral talipes equinovarus (HPO)", + "Hyperpigmentation of the skin (HPO)", + "abnormal organelle organization", + "head", + "Abnormality of the kidney (HPO)", + "flat anatomical entity", + "Abnormality of digestive system morphology (HPO)", + "abnormally increased number of brain ventricle in the independent continuant", + "chromatin organization", + "sensory system", + "manual digit 1 phalanx", + "ectoderm-derived structure", + "Abnormality of the face (HPO)", + "abnormal phenotype by ontology source", + "abnormal hard palate morphology", + "absent external ear in the independent continuant", + "Short attention span (HPO)", + "abnormal phalanx morphology", + "proximo-distal subdivision of respiratory tract", + "trunk bone", + "abnormal respiratory system morphology", + "subdivision of organism along main body axis", + "Abnormality of the outer ear (HPO)", + "anterior region of body", + "Hypermelanotic macule (HPO)", + "neurogenesis", + "subdivision of trunk", + "external ear", + "tissue", "Abnormality of mental function", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased size of the external male genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of the palpebral fissures", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "abnormal reproductive system morphology", + "abnormal ocular adnexa morphology", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "bone element hypoplasia in independent continuant", + "skin of body", + "abnormal biological_process", + "sensation behavior", + "shape nose tip", + "craniocervical region", + "negative regulation of biological process", + "behavior process", + "delayed central nervous system myelination", + "disconnected anatomical group", + "olfactory organ", + "abnormal ocular adnexa", + "abnormal cellular process", + "Hypoplasia of penis (HPO)", + "regulation of biosynthetic process", + "entire sense organ system", + "abnormal external ear", "Phenotypic abnormality", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormality of the outer ear", - "abnormal leg", - "Attention deficit hyperactivity disorder", - "abnormal digestive system", - "abnormal integument", "flat nose tip", - "Micrognathia", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "abnormal metabolic process", - "abnormal programmed DNA elimination by chromosome breakage", - "increased width of nasal bridge", - "aplasia or hypoplasia of external ear", - "abnormal biological_process", - "Abnormal tracheobronchial morphology", - "Positional foot deformity", - "Abnormal cerebral ventricle morphology", - "abnormal organelle organization", - "Abnormal CNS myelination", - "abnormal development of anatomical entity", - "abnormal digit", - "Aplasia/Hypoplasia of facial bones", - "decreased size of the external ear", - "Abnormality of the hand", - "absent external ear in the head", - "decreased length of neck", - "abnormal central nervous system myelination in independent continuant", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Abnormality of the nose", - "abnormal neck", - "abnormal brain ventricle morphology", - "abnormal nitrogen compound metabolic process", - "Abnormality of the head", - "abnormal anus", - "abnormal face morphology", - "abnormal digestive system morphology", - "abnormal myeloid cell morphology", - "increased biological_process", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal nervous system", - "Neoplasm", - "Anal atresia", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "Abnormal nervous system physiology", - "Feeding difficulties", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal esophagus morphology", - "Abnormal internal genitalia", + "Micrognathia (HPO)", + "abnormal limb bone", + "abnormality of anatomical entity physiology", + "bone of craniocervical region", + "regulation of gene expression", "abnormal eyelid morphology", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "delayed biological_process in central nervous system", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal cellular phenotype", - "Irregular hyperpigmentation", - "Hydrocephalus", - "absent radius bone in the independent continuant", - "Upslanted palpebral fissure", - "abnormal mouth", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Absent forearm bone", - "abnormal ocular adnexa morphology", - "flattened anatomical entity", - "Aplasia involving forearm bones", - "Abnormality of globe location", - "Abnormality of skin pigmentation", - "Abnormality of the female genitalia", - "abnormal primary metabolic process", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "Hypoplasia of penis", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal mandible morphology", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal cervical vertebra", - "aplastic manual digit 1", - "agenesis of anatomical entity", - "Delayed CNS myelination", - "Hyperactivity", - "aplasia or hypoplasia of manual digit", - "Aplasia/Hypoplasia of fingers", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Abnormal digit morphology", - "Abnormality of limb bone", "abnormal manus morphology", - "flat anatomical entity", - "Aplasia/hypoplasia involving the skeleton", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "primary subdivision of cranial skeletal system", + "forelimb long bone", + "phenotype by ontology source", + "kinesthetic behavior phenotype", + "metabolic process", + "abnormal response to stimulus", + "Hyperactivity (HPO)", + "Abnormal mandible morphology (HPO)", + "continuant", + "abnormal limb long bone morphology", + "Abnormality of metabolism/homeostasis (HPO)", + "negative regulation of cellular process", + "intramembranous bone", + "skeleton of limb", + "abnormal facial skeleton morphology", + "nervous system", + "abnormal behavior", + "increased length of the anatomical entity", + "shape anatomical entity in independent continuant", "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal anatomical entity morphology in the manus", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal appendicular skeleton morphology", - "Aplasia/Hypoplasia of the mandible", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal autopod region morphology", - "abnormal ear", - "Absent thumb", - "aplastic anatomical entity", - "abnormal bone of pectoral complex morphology", - "abnormal cellular metabolic process", - "abnormal respiratory system", - "Aplasia of the fingers", - "Abnormal finger morphology", - "abnormal secondary palate morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "abnormal limb bone morphology", - "abnormal appendicular skeleton morphology", - "shape anatomical entity", - "Abnormal respiratory system morphology", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal trachea morphology", - "absent anatomical entity", - "abnormal limb morphology", - "abnormal digit morphology", - "Abnormal sacrum morphology", - "Abnormal metencephalon morphology", - "Cerebellar hypoplasia", - "Aplasia/Hypoplasia of the sacrum", - "Abnormal external nose morphology", - "Aplasia/Hypoplasia involving the vertebral column", - "Low-set ears", - "Tracheoesophageal fistula", - "abnormally increased number of anatomical entity", - "Abnormality of the neck", - "abnormal vertebral column morphology", - "delayed myelination", - "Chromosomal breakage induced by crosslinking agents", - "abnormal tracheobronchial tree morphology", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", + "negative regulation of macromolecule metabolic process", + "paired limb/fin segment", + "abnormal palpebral fissure", + "Absent thumb (HPO)", + "abnormal neck morphology", + "regulation of cellular biosynthetic process", + "cellular organisms", + "aplasia or hypoplasia of radius bone", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", + "non-connected functional system", + "musculoskeletal system", + "fused sacrum", + "compound organ", + "autopod region", + "decreased size of the anatomical entity", + "lower jaw region", + "zeugopod", + "limb endochondral element", + "regulation of cellular process", + "anatomical system", + "regulation of metabolic process", + "bony pelvis", + "lower limb segment", + "behavioral phenotype", + "absent uterus in the female reproductive system", + "Abnormality of upper limb epiphysis morphology (HPO)", + "Abnormal cellular phenotype (HPO)", + "changed biological_process rate", + "anatomical entity hypoplasia", "absent forelimb zeugopod bone", - "abnormal respiratory tube morphology", - "Abnormal tracheal morphology", - "abnormal respiratory system morphology", - "abnormal biological_process in nervous system", - "abnormal alimentary part of gastrointestinal system", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "Abnormal esophagus morphology", - "aplasia or hypoplasia of skull", - "abnormal skin of body morphology", - "abnormal myelination in independent continuant", - "Aplasia involving bones of the extremities", - "All", - "increased qualitatively biological_process", - "Abnormal cerebrospinal fluid morphology", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal central nervous system myelination", + "Abnormal eyelid morphology (HPO)", + "phalanx", + "protein-containing complex organization", "abnormal closing of the anatomical entity", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormality of brain morphology", - "Delayed myelination", - "abnormal brain morphology", - "abnormal ocular adnexa", - "abnormal location of ear", - "abnormal anatomical entity topology in independent continuant", - "abnormal ear morphology", - "Decreased anatomical entity position", - "Reduced impulse control", - "Short attention span", - "abnormal location of external ear", - "Decreased external ear position", - "Abnormal location of ears", - "Abnormality of the gastrointestinal tract", - "Webbed neck", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "Hyperpigmentation of the skin", - "Gastrointestinal atresia", - "Abnormality of the vertebral column", - "Macule", - "abnormal pigmentation", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "Short neck", - "abnormal pigmentation in independent continuant", - "increased pigmentation", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "absent kidney in the renal system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased biological_process in independent continuant", - "Renal hypoplasia", - "increased qualitatively biological_process in independent continuant", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Cleft palate", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal penis", - "abnormal uterus", - "Abnormality of the skin", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "anus atresia", - "Abnormality of the anus" + "material entity", + "internal female genitalia", + "aplasia or hypoplasia of skeleton", + "embryo development", + "camera-type eye", + "tracheobronchial tree", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "entity", + "epigenetic regulation of gene expression", + "reproductive structure", + "abnormal reproductive system", + "Abnormal CNS myelination (HPO)", + "manual digit 1 or 5", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "eye", + "increased pigmentation in skin of body", + "manual digit 1", + "Abnormality of the cervical spine (HPO)", + "cellular process", + "aplasia or hypoplasia of skull", + "Chromosome breakage (HPO)", + "Abnormality of the genitourinary system (HPO)", + "programmed DNA elimination", + "abdominal segment bone", + "cellular component organization", + "multicellular organismal process", + "Attention deficit hyperactivity disorder (HPO)", + "radius bone", + "bone of dorsum", + "Abnormality of bone marrow cell morphology (HPO)", + "absent epiphysis", + "multicellular anatomical structure", + "abnormality of nervous system physiology", + "dermatocranium", + "Aplasia/Hypoplasia of the ear (HPO)", + "reproductive system", + "Renal hypoplasia (HPO)", + "Abnormal ear morphology (HPO)", + "abnormal camera-type eye morphology", + "negative regulation of metabolic process", + "ventricular system of brain", + "negative regulation of gene expression", + "bone of free limb or fin", + "decreased size of the anatomical entity in the independent continuant" ], "has_phenotype_count": 36, "highlight": null, @@ -2270,6 +3616,7 @@ "HP:0001896", "HP:0000568", "HP:0001518", + "HP:0001263", "HP:0003221", "HP:0009943", "HP:0000978", @@ -2282,974 +3629,1548 @@ "HP:0000365", "HP:0003214", "HP:0003213", - "HP:0000085", - "HP:0001263" + "HP:0000085" ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", - "Absent radius", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Hyperpigmentation of the skin", - "Anemia", - "Leukemia", - "Duplicated collecting system", - "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney", - "Global developmental delay" + "Ectopic kidney (HPO)", + "Neutropenia (HPO)", + "Absent thumb (HPO)", + "Intellectual disability (HPO)", + "Microcephaly (HPO)", + "Abnormal heart morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Hypergonadotropic hypogonadism (HPO)", + "Renal agenesis (HPO)", + "Anemic pallor (HPO)", + "Pancytopenia (HPO)", + "Cryptorchidism (HPO)", + "Absent radius (HPO)", + "Thrombocytopenia (HPO)", + "Short thumb (HPO)", + "Reticulocytopenia (HPO)", + "Microphthalmia (HPO)", + "Small for gestational age (HPO)", + "Global developmental delay (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Complete duplication of thumb phalanx (HPO)", + "Bruising susceptibility (HPO)", + "Hyperpigmentation of the skin (HPO)", + "Anemia (HPO)", + "Leukemia (HPO)", + "Duplicated collecting system (HPO)", + "Short stature (HPO)", + "Strabismus (HPO)", + "Hearing impairment (HPO)", + "Prolonged G2 phase of cell cycle (HPO)", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Horseshoe kidney (HPO)" ], "has_phenotype_closure": [ - "HP:0001263", "UPHENO:0082129", - "UPHENO:0041821", - "UPHENO:0049671", - "UPHENO:0051124", - "UPHENO:0049964", + "UPHENO:0019487", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0041075", + "GO:0071704", + "GO:0006807", + "GO:0044238", + "GO:0051716", "HP:0003254", - "HP:0003214", + "UPHENO:0049671", + "GO:0090304", + "GO:0006974", + "GO:0006725", + "GO:0022403", + "GO:0022402", "UPHENO:0049952", - "HP:0000598", - "UPHENO:0052231", + "GO:0051319", + "GO:0051325", + "HP:0011018", + "HP:0003214", + "GO:0046483", + "GO:0007605", + "UPHENO:0002240", + "UPHENO:0052970", + "HP:0031704", "UPHENO:0005518", - "HP:0000365", - "HP:0012373", + "UBERON:0001690", + "UBERON:0002105", + "BFO:0000141", + "HP:0000496", + "UPHENO:0049622", + "UPHENO:0080300", + "UPHENO:0079826", "UPHENO:0049586", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0000549", + "NBO:0000338", "UPHENO:0079828", - "UPHENO:0000543", + "NBO:0000001", + "UBERON:0000015", "UPHENO:0080352", - "UPHENO:0081424", "UPHENO:0080351", + "UBERON:0004100", "HP:0004742", - "UPHENO:0052970", - "UPHENO:0075787", - "HP:0011793", - "HP:0000978", - "HP:0003213", + "HP:0004377", + "HP:0002664", + "UBERON:0000477", + "MPATH:105", + "UBERON:0002049", + "MPATH:603", "UPHENO:0051097", - "HP:0011025", - "UPHENO:0080581", - "HP:0011028", - "HP:0005918", - "UPHENO:0082444", - "UPHENO:0020041", - "UPHENO:0084447", - "HP:0004275", + "HP:0001933", + "GO:0008015", + "GO:0003013", + "UBERON:0007798", + "UPHENO:0002678", "HP:0009942", - "HP:0011018", - "HP:0011314", - "HP:0009998", - "UPHENO:0050116", + "HP:0004275", + "GO:0031049", + "GO:0050789", + "GO:0071840", + "UPHENO:0049873", + "GO:0010558", "HP:0001939", - "HP:0011017", - "UPHENO:0050021", - "UPHENO:0049990", - "HP:0003220", - "UPHENO:0049748", - "HP:0002664", - "UPHENO:0078606", - "HP:0003221", - "HP:0004377", - "UPHENO:0050845", - "UPHENO:0010763", + "UPHENO:0049700", + "HP:0040012", + "GO:0060255", + "GO:0009892", + "GO:0043933", + "GO:0008152", + "GO:0009987", + "UPHENO:0050113", + "UPHENO:0050121", + "UBERON:0010222", + "MPATH:1000", + "GO:0010556", + "GO:0016043", + "GO:0009890", + "GO:0010605", + "GO:0031324", + "GO:0019222", + "GO:0040029", + "GO:0044848", + "GO:0006338", + "HP:0001263", + "GO:0034641", + "HP:0012758", "HP:0004325", - "HP:0004323", + "UPHENO:0082444", + "UPHENO:0054261", + "UPHENO:0010763", + "GO:0040007", + "UPHENO:0082794", "UPHENO:0082761", - "UPHENO:0010795", - "HP:0001507", - "HP:0001518", - "HP:0002597", - "UPHENO:0049874", - "UPHENO:0054299", + "HP:0011017", + "UBERON:0010230", "HP:0000271", - "HP:0000002", - "UPHENO:0069523", - "UPHENO:0002910", - "UPHENO:0003020", + "UPHENO:0075787", + "UBERON:0001456", + "UPHENO:0075219", + "UBERON:0001444", + "HP:0008056", + "UBERON:0000970", + "UPHENO:0080209", + "UPHENO:0080585", + "UPHENO:0075997", + "GO:0050954", + "UBERON:0004456", + "UBERON:0001032", + "UBERON:0000019", "HP:0000568", - "HP:0100887", - "HP:0000478", - "HP:0012372", - "HP:0001896", - "UPHENO:0085263", - "HP:0004312", - "UPHENO:0046624", - "UPHENO:0068971", - "UPHENO:0031839", - "UPHENO:0046411", "UPHENO:0012541", + "UPHENO:0046411", + "UPHENO:0020795", + "UPHENO:0012274", + "HP:0011927", + "HP:0004323", "HP:0009381", - "UPHENO:0041465", - "UPHENO:0046505", - "HP:0000496", - "UPHENO:0087472", - "UPHENO:0046707", - "UPHENO:0080187", - "HP:0002973", - "HP:0031704", - "HP:0040070", - "UPHENO:0086956", - "HP:0002818", - "HP:0006503", + "UPHENO:0046624", "UPHENO:0081511", - "UPHENO:0087501", - "UPHENO:0087510", - "HP:0009822", + "UBERON:0011584", + "HP:0006503", + "HP:0003953", + "HP:0009823", + "HP:0006501", + "UPHENO:0075944", + "UBERON:0003460", + "UBERON:0001423", + "UPHENO:0026128", + "HP:0002973", + "UBERON:0002386", + "UPHENO:0080187", + "UPHENO:0076941", + "UBERON:0015001", "HP:0040072", - "UPHENO:0079872", - "UPHENO:0002751", - "UPHENO:0009341", - "UPHENO:0076718", + "UPHENO:0002719", + "UPHENO:0009399", "UPHENO:0025945", - "HP:0000085", - "HP:0003953", - "HP:0000812", - "UPHENO:0005651", - "HP:0001510", - "UPHENO:0086201", - "UPHENO:0002598", - "UPHENO:0041226", - "UPHENO:0086023", + "UBERON:0010703", + "UPHENO:0002751", + "CL:0000019", + "GO:0003006", + "HP:0009602", + "GO:0048609", + "GO:0000003", + "UPHENO:0052231", + "GO:0032504", + "HP:0012243", + "HP:0004312", "UPHENO:0050101", - "HP:0011927", - "UPHENO:0052778", + "UPHENO:0021474", + "HP:0000811", + "UBERON:0003135", + "UBERON:0003101", "UPHENO:0002597", - "UPHENO:0005597", - "HP:0009825", - "HP:0012874", - "UPHENO:0053644", - "HP:0012243", - "UPHENO:0041629", - "UPHENO:0080382", - "HP:0008669", + "HP:0009778", + "HP:0000812", + "UPHENO:0050108", + "UPHENO:0002371", "UPHENO:0020950", - "UPHENO:0053298", - "UPHENO:0021800", - "UPHENO:0085874", - "HP:0000027", - "HP:0000811", - "HP:0008056", + "UPHENO:0049985", + "UPHENO:0049964", + "GO:0031326", + "CL:0000558", + "HP:0000035", + "GO:0010468", + "HP:0010461", + "UPHENO:0002599", + "CL:0000015", + "GO:0006281", + "GO:0048232", + "GO:0032502", + "GO:0022414", + "UPHENO:0041821", + "UPHENO:0002595", "HP:0000025", - "HP:0009943", - "UPHENO:0087846", - "UPHENO:0086198", - "UPHENO:0078452", + "GO:0007600", + "HP:0012874", + "HP:0000598", + "CL:0000586", + "GO:0007283", + "GO:0007276", + "UPHENO:0019615", + "HP:0008669", + "UBERON:0004053", + "UBERON:0004054", "UPHENO:0049970", - "UPHENO:0021474", - "UPHENO:0002595", - "UPHENO:0084766", - "UPHENO:0002830", - "UPHENO:0076675", - "HP:0011276", - "UPHENO:0084448", - "HP:0002817", - "HP:0009601", - "HP:0100542", - "HP:0009777", - "UPHENO:0003055", - "HP:0011297", - "UPHENO:0012274", - "UPHENO:0085118", - "UPHENO:0088148", - "UPHENO:0084761", - "UPHENO:0081566", - "HP:0011121", - "UPHENO:0002964", - "UPHENO:0087349", - "UPHENO:0081451", - "UPHENO:0080099", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", + "UBERON:0000473", + "CL:0000413", + "UPHENO:0080382", + "UBERON:0000079", + "CL:0000039", + "UPHENO:0005016", + "UPHENO:0078729", + "UPHENO:0021561", + "HP:0000315", + "CL:0002092", + "HP:0011875", + "GO:0006950", + "GO:0031327", + "HP:0001872", + "HP:0001876", + "CL:0000458", + "CL:0001035", + "HP:0001873", + "HP:0012145", + "CL:0000233", + "HP:0005561", + "UPHENO:0080581", + "UPHENO:0002598", + 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"UBERON:0012475", + "HP:0012372", + "HP:0005927", + "UBERON:0002100", + "HP:0006496", + "UPHENO:0006910", + "HP:0005924", + "UPHENO:0002219", + "NCBITaxon:131567", + "UBERON:0000479", + "UPHENO:0027575", + "UBERON:0019231", + "GO:0031323", + "UBERON:0011249", + "HP:0001896", + "CL:0000766", + "GO:0003008", + "HP:0003974", + "HP:0005920", + "NBO:0000444", + "HP:0009777", + "HP:0000252", + "UBERON:0012141", + "UPHENO:0080126", + "BFO:0000015", + "UPHENO:0080079", + "HP:0009825", + "UPHENO:0015280", + "UBERON:0004120", + "UPHENO:0041226", + "UPHENO:0046707", + "UPHENO:0026506", "UPHENO:0002635", - "HP:0001574", - "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0088170", - "UPHENO:0002844", - "UPHENO:0049587", + "UPHENO:0076723", + "CL:0000000", + "UBERON:0000062", + "UBERON:0010314", + "CL:0000003", + "HP:0011793", + "CL:0002371", + "HP:0000032", + "UBERON:0004288", + "UBERON:0003620", + "UBERON:5102389", + "HP:0010974", + "HP:0003213", + "HP:0002715", + "UPHENO:0081423", + "HP:0001909", + "UPHENO:0003020", + "UBERON:0010712", + "UBERON:0005173", + "HP:0011893", + "UBERON:0005178", + "CL:0000081", + "UBERON:0002101", + "UBERON:0009569", + "HP:0032251", + "UBERON:0011143", + "UBERON:0013701", + "HP:0010987", + "HP:0000486", + "UPHENO:0004459", + "UBERON:0012151", + "HP:0004322", + "GO:0010629", + "HP:0001627", + "UBERON:0005055", "HP:0000815", - "HP:0008373", - "UPHENO:0066972", - "UPHENO:0024906", - "UPHENO:0087369", - "UPHENO:0085195", - "HP:0000135", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0085354", + "UBERON:0010741", + "HP:0000818", + "CL:0000255", + "HP:0032309", + "CL:0000763", + "MPATH:119", + "UBERON:0000061", + "UBERON:0011818", + "CL:0000738", + "UBERON:0015061", + "GO:0008150", + "HP:0002813", + "UBERON:0006058", + "UPHENO:0050625", "UPHENO:0066927", - "HP:0000080", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "UPHENO:0050113", - "HP:0000104", - "HP:0000953", - "UPHENO:0088162", - "HP:0000980", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", - "HP:0012130", + "UPHENO:0074589", + "UPHENO:0052178", + "NCBITaxon:2759", + "UBERON:0000468", + "UBERON:0000489", + "CL:0000094", + "GO:0071824", + "UPHENO:0002642", + "GO:1901360", "HP:0011873", - "UPHENO:0087339", - "UPHENO:0085302", - "UPHENO:0086049", - "HP:0000028", - "UPHENO:0088166", - "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0049701" - ], - "has_phenotype_closure_label": [ - "Neurodevelopmental delay", - "shape anatomical entity in independent continuant", - "3-D shape anatomical entity", - "concave 3-D shape anatomical entity", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Hearing impairment", - "Hearing abnormality", - "Abnormality of the ear", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormality of ear physiology", - "Abnormal eye physiology", - "abnormal behavior process", - "abnormal behavior", - "Abnormal conjugate eye movement", - "Atypical behavior", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Abnormality of body height", - "Growth delay", - "decreased size of the multicellular organism", - "delayed biological_process", - "abnormal renal collecting system", + "HP:0005930", + "UPHENO:0053580", + "GO:0009889", + "CL:0000219", + "HP:0025354", + "UBERON:0011137", + "UBERON:0002104", + "HP:0001875", + "HP:0011314", + "UPHENO:0002880", + "UBERON:0000467", + "HP:0000002", + "HP:0001017", + "HP:0011842", + "UBERON:0002193", + "HP:0040064", + "HP:0000978", + "UBERON:0002405", + "UBERON:5001463", + "UPHENO:0068971", + "UBERON:0003103", + "HP:0001911", + "UBERON:0004375", + "UBERON:0004088", + "HP:0001626", + "UPHENO:0075159", + "UBERON:0034944", + "UBERON:0012354", + "HP:0000365", + "HP:0012210", + "HP:0020047", + "UBERON:0000020", + "UPHENO:0076799", + "UBERON:0000465", + "HP:0003221", + "BFO:0000004", + "BFO:0000020", + "HP:0000085", + "UBERON:0019221", + "HP:0001510", + "HP:0011355", + "HP:0100542", + "HP:0001903", + "UPHENO:0076779", + "UBERON:0006048", + "HP:0000364", + "UPHENO:0020832", + "UBERON:0005897", + "BFO:0000040", + "UBERON:0011676", + "UBERON:0000075", + "UBERON:0010688", + "MPATH:120", + "GO:0043473", + "UPHENO:0052778", + "UPHENO:0079872", + "UBERON:0002417", + "UPHENO:0075902", + "HP:0000001", + "GO:0007049", + "UBERON:0010000", + "HP:0001507", + "HP:0001871", + "HP:0009822", + "UBERON:0010538", + "UBERON:0015203", + "UBERON:5006048", + "UPHENO:0001001", + "GO:0050896", + "UBERON:0000475", + "HP:0001000", + "HP:0012130", + "UBERON:0005881", + "UPHENO:0081424", + "UPHENO:0074572", + "UBERON:8450002", + "UPHENO:0081755", + "UPHENO:0020651", + "UPHENO:0020220", + "HP:0000081", + "GO:0050877", + "NCBITaxon:33208", + "UPHENO:0027515", + "UPHENO:0049588", + "GO:0031052", + "UBERON:0013702", + "UBERON:0000916", + "HP:0000028", + "UBERON:0015212", + "UPHENO:0050620", + "UBERON:0004122", + "UBERON:0011216", + "CL:0002422", + "UBERON:0001062", + "MPATH:0", + "UBERON:0007272", + "UPHENO:0002406", + "BFO:0000001", + "HP:0003220", + "UBERON:0000026", + "UBERON:0000463", + "CL:0000225", + "UPHENO:0001003", + "HP:0009142", + "UPHENO:0001002" + ], + "has_phenotype_closure_label": [ + "concave 3-D shape anatomical entity", + "abnormal shape of continuant", + "shape anatomical entity in independent continuant", + "shape kidney", + "abnormal cellular response to DNA damage stimulus", + "DNA metabolic process", + "response to stimulus", + "abnormal DNA repair", + "Abnormality of DNA repair (HPO)", + "nucleic acid metabolic process", + "DNA damage response", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "heterocycle metabolic process", + "organic substance metabolic process", + "primary metabolic process", + "cellular metabolic process", + "cellular response to stimulus", + "Abnormality of the cell cycle (HPO)", + "biological phase", + "Prolonged G2 phase of cell cycle (HPO)", + "cell cycle phase", + "cell cycle process", + "Abnormal ear physiology (HPO)", + "sensory perception of mechanical stimulus", + "abnormal sensory perception", + "abnormality of ear physiology", + "decreased qualitatively sensory perception of sound", + "decreased sensory perception of sound", + "Hearing impairment (HPO)", + "ear", + "immaterial entity", + "abnormal behavior", + "eye movement", + "abnormal response to stimulus", + "kinesthetic behavior", + "behavior process", + "abnormality of camera-type eye physiology", + "anatomical line", + "abnormal behavior process", + "Strabismus (HPO)", + "abnormal size of multicellular organism", + "delayed biological_process", + "decreased size of the multicellular organism", "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm by anatomical site", - "Neoplasm", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", + "cellular aromatic compound metabolic process", + "delayed growth", + "Duplicated collecting system (HPO)", + "Leukemia (HPO)", + "Hematological neoplasm (HPO)", + "vasculature", + "Abnormality of the vasculature (HPO)", + "Vascular skin abnormality (HPO)", + "pathological phenotype observation", + "Abnormal bleeding (HPO)", + "abnormality of multicellular organism height", + "Internal hemorrhage (HPO)", + "Bruising susceptibility (HPO)", + "cellular nitrogen compound metabolic process", + "Subcutaneous hemorrhage (HPO)", + "abnormality of cardiovascular system physiology", + "Abnormal cardiovascular system physiology (HPO)", + "circulatory system process", "abnormal vasculature", - "Vascular skin abnormality", - "Internal hemorrhage", - "Complete duplication of thumb phalanx", - "Duplication of thumb phalanx", - "Duplication of bones involving the upper extremities", - "shape kidney", - "Duplication of phalanx of hand", - "Duplication of hand bones", - "Abnormality of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "abnormal cellular process", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", + "Duplication of hand bones (HPO)", + "Duplication of phalanx of hand (HPO)", + "Abnormal cellular physiology (HPO)", + "Abnormality of metabolism/homeostasis (HPO)", + "negative regulation of macromolecule metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "regulation of cellular process", + "negative regulation of biological process", + "negative regulation of gene expression", + "metabolic process", + "cellular process", "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Small for gestational age", - "Decreased anatomical entity mass", - "abnormality of anatomical entity mass", + "Chromosome breakage (HPO)", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "abnormal cellular process", + "regulation of biosynthetic process", + "negative regulation of cellular process", + "protein-containing complex organization", + "response to stress", + "cellular component organization", + "regulation of biological process", + "growth", + "Growth abnormality (HPO)", "decreased multicellular organism mass", - "Decreased multicellular organism mass", - "Abnormality of body weight", - "abnormality of multicellular organism mass", - "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face", - "Abnormality of the orbital region", - "abnormal face morphology", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "Abnormal reticulocyte morphology", - "decreased length of digit", - "Short finger", - "decreased length of manual digit 1", - "Short digit", - "decreased length of anatomical entity in independent continuant", + "Abnormality of thumb phalanx (HPO)", + "Decreased body weight (HPO)", + "entire sense organ system", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "Microphthalmia (HPO)", + "Abnormal eye morphology (HPO)", + "simple eye", + "visual system", + "eye", + "orbital region", + "negative regulation of metabolic process", + "abnormal camera-type eye morphology", + "face", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of the face (HPO)", + "Short stature (HPO)", + "camera-type eye", + "Neoplasm (HPO)", + "Abnormality of globe size (HPO)", + "Abnormality of the eye (HPO)", + "Reticulocytopenia (HPO)", + "decreased size of the anatomical entity in the pectoral complex", "decreased length of manual digit", - "decreased size of the anatomical entity", + "decreased length of digit", + "Short thumb (HPO)", "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving forearm bones", - "Abnormal upper limb bone morphology", - "Absent forearm bone", - "Absent radius", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "absent radius bone", - "Global developmental delay", - "Abnormality of the cell cycle", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "decreased anatomical entity mass", - "abnormal long bone morphology", + "decreased size of the anatomical entity", + "decreased length of manual digit 1", + "sensory perception", + "decreased length of anatomical entity", + "Aplasia involving bones of the extremities (HPO)", + "Abnormality of forearm bone (HPO)", + "Decreased multicellular organism mass", + "Aplasia involving bones of the upper limbs (HPO)", + "absent radius bone in the independent continuant", + "forelimb zeugopod skeleton", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "zeugopod", + "radius endochondral element", + "arm bone", + "radius bone", "absent forelimb zeugopod bone", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "abnormal forelimb zeugopod bone", + "body part movement", "absent radius bone in the forelimb", - "absent radius bone in the independent continuant", - "abnormally localised testis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal response to stress", - "decreased developmental process", - "Abnormal external genitalia", + "absent radius bone", + "Complete duplication of phalanx of hand (HPO)", + "Absent forearm bone (HPO)", + "abnormal forelimb zeugopod", + "male organism", + "abnormal reproductive process", + "decreased qualitatively developmental process", "decreased qualitatively reproductive process", + "decreased qualitatively biological_process", + "Complete duplication of thumb phalanx (HPO)", + "Abnormality of chromosome stability (HPO)", "abnormal multicellular organismal reproductive process", - "Abnormal male reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormality of internal male genitalia physiology", - "abnormal spermatogenesis", - "Abnormal testis morphology", - "Cryptorchidism", - "abnormal testis morphology", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", - "abnormality of male reproductive system physiology", + "Abnormality of blood circulation (HPO)", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "external male genitalia", + "Abnormal testis morphology (HPO)", "abnormal developmental process", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "abnormal forelimb morphology", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal neutrophil count", - "abnormal sensory perception", - "abnormal manus", - "abnormal manus morphology", - "Abnormality of limb bone", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "agenesis of anatomical entity", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Short thumb", - "abnormal manual digit 1 morphology", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "phenotype by ontology source", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal cellular phenotype", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormally decreased number of neutrophil", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormality of blood and blood-forming tissues", - "Abnormality of multiple cell lineages in the bone marrow", - "absent gamete", - "abnormal hematopoietic cell morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Abnormal cellular immune system morphology", - "abnormal brain morphology", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", - "Abnormality of eye movement", - "Abnormality of the urinary system", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "Global developmental delay (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "sperm", + "external genitalia", + "anatomical cluster", + "internal genitalia", "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "Abnormal morphology of the radius", + "semen", + "Absent radius (HPO)", + "decreased developmental process", + "Abnormal spermatogenesis (HPO)", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal developmental process involved in reproduction", + "abnormality of male reproductive system physiology", + "abnormally localised testis", + "abnormal external male genitalia", + "abnormal male reproductive system", "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormality of skull size", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", + "abnormality of internal male genitalia physiology", + "Pancytopenia (HPO)", + "sexual reproduction", + "anucleate cell", + "abnormal male reproductive organ morphology", + "bone marrow", + "secretory cell", + "abnormal orbital region", + "bone marrow cell", + "Hearing abnormality (HPO)", + "platelet", + "biogenic amine secreting cell", + "decreased biological_process", + "serotonin secreting cell", + "germ line cell", + "bone cell", + "Abnormality of thrombocytes (HPO)", + "oxygen accumulating cell", + "Pallor (HPO)", + "absent kidney", + "zeugopodial skeleton", + "male gamete generation", + "Renal agenesis (HPO)", + "non-material anatomical boundary", + "Renal hypoplasia/aplasia (HPO)", + "Abnormality of the genital system (HPO)", + "nitrogen compound metabolic process", + "abnormal sensory perception of sound", + "abnormal testis morphology", + "reproductive system", + "Puberty and gonadal disorders (HPO)", + "changed developmental process rate", + "neutrophil", + "Hypergonadotropic hypogonadism (HPO)", + "glandular system", + "aplastic forelimb zeugopod bone", + "Abnormality of the endocrine system (HPO)", + "manual digit plus metapodial segment", + "Hypogonadism (HPO)", + "abnormal endocrine system", + "reproductive organ", + "digit 1 digitopodial skeleton", + "gonad", + "Abnormal reticulocyte morphology (HPO)", + "animal cell", + "regional part of brain", + "abnormality of reproductive system physiology", + "eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "increased qualitatively biological_process in independent continuant", + "Macule (HPO)", "abnormal growth", - "abnormal leukocyte morphology", - "Aplasia involving bones of the extremities", + "Abnormal internal genitalia (HPO)", + "increased biological_process in skin of body", + "abnormal skin of body morphology", + "multicellular organismal reproductive process", + "Abnormal cell morphology (HPO)", + "Abnormality of the integument (HPO)", + "viscus", + "integumental system", + "abnormal eyeball of camera-type eye", + "abnormal pigmentation in independent continuant", + "Abnormality of the orbital region (HPO)", + "erythrocyte", + "abnormal limb bone morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Abnormality of reproductive system physiology (HPO)", "increased qualitatively biological_process", - "All", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "quality", - "abnormal response to stimulus", + "reticulocyte", + "abnormal central nervous system morphology", + "increased biological_process", + "abnormal metabolic process", + "changed biological_process rate", + "Irregular hyperpigmentation (HPO)", + "absent anatomical entity in the forelimb", + "abnormal skin of body", + "abnormal integument", + "Abnormal renal collecting system morphology (HPO)", + "sense organ", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "circulatory system", + "Abnormality of the cardiovascular system (HPO)", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "head", + "Hyperpigmentation of the skin (HPO)", + "cardiovascular system", + "abnormal cardiovascular system morphology", + "circulatory organ", + "primary circulatory organ", + "vascular system", + "thoracic segment of trunk", + "thoracic segment organ", + "upper limb segment", + "Morphological central nervous system abnormality (HPO)", + "heart", + "abnormal cardiovascular system", + "abnormal anatomical entity morphology in the brain", + "manual digit 1 plus metapodial segment", + "telencephalon", + "Opisthokonta", + "absent anatomical entity", + "central nervous system", + "structure with developmental contribution from neural crest", + "abnormal brain morphology", + "aplasia or hypoplasia of telencephalon", + "Azoospermia (HPO)", + "cranial skeletal system", + "organism", + "Localized skin lesion (HPO)", "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "Abnormal platelet morphology", + "body proper", + "Abnormal renal morphology (HPO)", + "nervous system process", + "Abnormal axial skeleton morphology (HPO)", + "abnormal size of anatomical entity", + "shape anatomical entity", + "digit 1", + "regional part of nervous system", + "abnormal head", + "multicellular organism reproduction", + "Metazoa", + "axial skeleton plus cranial skeleton", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "Abnormal skull morphology (HPO)", + "decreased height of the multicellular organism", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "reproductive process", + "abnormal pigmentation", + "Neoplasm by anatomical site (HPO)", + "phalanx", + "Abnormality of head or neck (HPO)", + "root", + "Abnormality of the ear (HPO)", + "protein-containing material entity", + "subdivision of skeleton", + "biological_process", + "system process", + "Intellectual disability (HPO)", + "multicellular organismal process", + "Abnormal eye physiology (HPO)", + "Neurodevelopmental abnormality (HPO)", + "pigmentation", + "Abnormality of mental function", + "Abnormality of the nervous system (HPO)", + "cognition", + "aplasia or hypoplasia of radius bone", + "main body axis", + "cellular organisms", + "skin of body", + "abnormal biological_process", + "multi-tissue structure", + "organ system subdivision", + "Phenotypic abnormality (HPO)", + "process", + "absent epiphysis of phalanx of manus in the independent continuant", + "abnormality of anatomical entity physiology", + "skeletal element", "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", + "forelimb", + "Abnormal erythroid lineage cell morphology (HPO)", + "abnormal kidney", + "acropodial skeleton", + "abnormal arm", + "Microcephaly (HPO)", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "Anemic pallor (HPO)", + "abnormal bone of pectoral complex morphology", + "Abnormal conjugate eye movement (HPO)", + "system", + "Abnormal hand morphology (HPO)", + "trunk region element", + "pectoral complex", + "abnormal spermatogenesis", + "germ cell", + "segment of manus", + "abnormal anatomical entity morphology in the independent continuant", + "digit 1 or 5", + "absent manual digit", + "G2 phase", + "manual digitopodium region", + "gamete", + "organ part", + "cell cycle", + "male reproductive organ", + "reproductive structure", + "manual digit 1 or 5", + "abnormal reproductive system", + "absent epiphysis of phalanx of manus in the phalanx of manus", + "aplasia or hypoplasia of manual digit", + "abnormal epiphysis morphology in the independent continuant", + "phenotype", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal manus", + "absent anatomical entity in the phalanx of manus", + "Generalized abnormality of skin (HPO)", + "Abnormality of bone marrow cell morphology (HPO)", + "zone of long bone", + "arm", + "long bone", + "Thrombocytopenia (HPO)", + "Abnormality of forebrain morphology (HPO)", + "bone of appendage girdle complex", + "Horseshoe kidney (HPO)", + "abnormal postcranial axial skeleton morphology", + "aplasia or hypoplasia of manual digit 1", + "skeleton of manus", + "nervous system", + "skeleton of limb", + "vestibulo-auditory system", + "forelimb endochondral element", + "increased biological_process in independent continuant", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "abnormal response to stress", + "epiphysis of phalanx of manus", + "Abnormality of brain morphology (HPO)", + "chromatin remodeling", + "absent kidney in the independent continuant", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", "abnormal digit", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", + "abnormal cellular metabolic process", + "acropodium region", + "increased pigmentation in skin of body", + "manual digit 1", + "abnormal radius bone", + "digit plus metapodial segment", + "Abnormal digit morphology (HPO)", + "multi-limb segment region", + "immaterial anatomical entity", + "blood circulation", + "Abnormal reproductive system morphology (HPO)", + "endochondral element", + "subdivision of trunk", + "abdomen element", + "Hypermelanotic macule (HPO)", + "abnormal anatomical entity morphology in the pectoral complex", + "endocrine system", + "skull", + "digit 1 plus metapodial segment", + "trunk", + "multicellular anatomical structure", + "autopodial skeleton", + "abnormal anatomical entity morphology in the skeleton of manus", + "Deficient excision of UV-induced pyrimidine dimers in DNA (HPO)", + "Cryptorchidism (HPO)", + "Abnormal immune system morphology (HPO)", + "decreased spermatogenesis", + "manual digit bone", + "decreased anatomical entity mass", + "anatomical entity dysfunction in independent continuant", + "increased pigmentation", + "DNA repair", + "abnormal renal collecting system", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "immune system", + "Abnormal cellular immune system morphology (HPO)", + "myeloid cell", + "abnormal phalanx morphology", + "forelimb bone", + "interphase", + "obsolete cell", + "Abnormal erythrocyte morphology (HPO)", + "epiphysis", + "Neurodevelopmental delay (HPO)", + "cavitated compound organ", + "Abnormal heart morphology (HPO)", "abnormally localised anatomical entity in independent continuant", - "abnormal limb", - "abnormal cell", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "absent manual digit", - "abnormal phenotype by ontology source", - "abnormal genitourinary system", - "Abnormal appendicular skeleton morphology", - "abnormally localised anatomical entity", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "abnormal anatomical entity topology in independent continuant", - "Abnormality of the eye", + "musculoskeletal system", + "Abnormality of limb epiphysis morphology (HPO)", + "compound organ", + "autopod region", + "upper urinary tract", + "abnormally decreased functionality of the anatomical entity", + "skeletal system", + "U-shaped anatomical entity", + "manual digit 1 phalanx endochondral element", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "chromatin organization", + "sensory system", + "manual digit 1 phalanx", "abnormal upper urinary tract", - "abnormally decreased number of cell in the independent continuant", - "Neutropenia", - "abnormally decreased number of anatomical entity in the independent continuant", - "Decreased body weight", - "decreased qualitatively developmental process", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal neutrophil", - "Abnormality of the skin", - "abnormal granulocyte morphology", - "Abnormal leukocyte count", - "abnormal reproductive process", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormally decreased number of leukocyte in the independent continuant", - "continuant", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "Abnormality of brain morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "abnormal immune system", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "abnormal limb bone morphology", - "absent anatomical entity", - "abnormal limb morphology", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal developmental process involved in reproduction", - "Abnormality of the immune system", - "Thrombocytopenia", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "aplasia or hypoplasia of skeleton", + "macromolecule metabolic process", + "bone of pectoral complex", + "superficial fascia", + "abnormal skeletal system morphology", + "manual digitopodium bone", "abnormal craniocervical region", - "Aplasia involving forearm bones", - "Abnormality of skin pigmentation", - "Abnormality of the head", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Decreased head circumference", + "Abnormal myeloid leukocyte morphology (HPO)", + "Abnormal upper limb bone morphology (HPO)", + "phalanx endochondral element", + "limb skeleton subdivision", + "hemolymphoid system", + "Decreased anatomical entity mass", + "Abnormal appendicular skeleton morphology (HPO)", + "mesoderm-derived structure", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "Abnormal skeletal morphology (HPO)", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", "abnormal external genitalia", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "abnormal telencephalon morphology", - "abnormal size of skull", - "Abnormal internal genitalia", - "Abnormal skull morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "Morphological central nervous system abnormality", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", "abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", + "limb long bone", + "decreased length of anatomical entity in independent continuant", + "autopod endochondral element", + "phalanx of manus", + "autopod bone", + "manual digit 1 digitopodial skeleton", + "abnormal eye movement", + "subdivision of organism along appendicular axis", + "absent manual digit 1", + "gamete generation", + "Abnormality of skin morphology (HPO)", + "absent anatomical entity in the limb", + "zone of bone organ", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "motile cell", + "paired limb/fin", + "sensory perception of sound", "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", - "delayed growth", - "abnormal cardiovascular system", - "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", - "abnormal skin of body", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal integument", - "abnormal biological_process", - "Macule", - "Cafe-au-lait spot", - "increased pigmentation in skin of body", - "abnormal pigmentation", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "increased pigmentation", - "increased pigmentation in independent continuant", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal size of eyeball of camera-type eye", + "abnormal face", + "aplastic anatomical entity", + "abnormal biological_process in independent continuant", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "abnormality of multicellular organism mass", + "Short finger (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "eukaryotic cell", + "subdivision of head", + "Abnormality of epiphysis morphology (HPO)", + "integument", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of limb bone morphology (HPO)", + "Abnormality of the hand (HPO)", + "abnormal cell cycle", + "abnormal ear", + "abdominal segment element", + "absent digit", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "abnormal manus morphology", + "cell", + "phenotype by ontology source", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "forelimb long bone", + "heart plus pericardium", + "skeleton", + "manus bone", "absent kidney in the renal system", - "increased biological_process in independent continuant", + "Abnormal leukocyte morphology (HPO)", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "Abnormal platelet count (HPO)", + "abnormal manual digit 1 morphology", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "regulation of macromolecule metabolic process", + "aplastic manual digit 1", + "continuant", + "Small for gestational age (HPO)", + "Abnormal nervous system physiology (HPO)", + "appendage", + "Abnormality of cardiovascular system morphology (HPO)", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "abnormal epiphysis of phalanx of manus morphology", + "abnormal cellular component organization", + "appendicular skeletal system", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "anatomical collection", + "internal male genitalia", + "occurrent", + "axial skeletal system", + "skeleton of manual digitopodium", + "cellular response to stress", + "absent anatomical entity in the independent continuant", + "autopodial extension", + "absent anatomical entity in the multicellular organism", + "anterior region of body", + "abnormal nervous system", + "male germ cell", + "lateral structure", + "limb", + "endochondral bone", + "absent epiphysis in the independent continuant", + "absent epiphysis", + "Abnormality of thumb epiphysis (HPO)", + "brain", + "increased pigmentation in independent continuant", + "Absent epiphyses of the thumb (HPO)", + "Growth delay (HPO)", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "abnormally decreased functionality of the gonad", + "abnormal limb bone", + "granulocyte", + "Abnormality of the upper urinary tract (HPO)", + "Anemia (HPO)", + "Abnormal thumb morphology (HPO)", + "Absent thumb (HPO)", + "abnormal blood circulation", + "bone of free limb or fin", + "decreased qualitatively sensory perception of mechanical stimulus", + "Aplasia involving forearm bones (HPO)", + "native cell", + "paired limb/fin segment", + "absent anatomical entity in the skeletal system", + "Short digit (HPO)", + "abnormal limb long bone morphology", + "manual digit", + "Abnormal granulocyte count (HPO)", + "Abnormality of the forearm (HPO)", + "postcranial axial skeleton", + "Abnormality of the immune system (HPO)", + "pectoral appendage skeleton", + "nucleate cell", + "skeleton of manual acropodium", + "excretory system", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Abnormality of eye movement (HPO)", "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased qualitatively biological_process in independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal platelet", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Aplasia of the fingers", - "Hypergonadotropic hypogonadism", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the endocrine system", - "Pancytopenia", - "Hypogonadism", - "Abnormality of reproductive system physiology", - "abnormal hematopoietic system", - "Renal agenesis", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", + "appendage girdle complex", + "Abnormal myeloid cell morphology (HPO)", + "Abnormality of neutrophils (HPO)", + "agenesis of anatomical entity", + "abnormal renal system", + "epigenetic regulation of gene expression", + "abnormally localised kidney", + "Cafe-au-lait spot (HPO)", + "abnormal size of skull", + "Neutropenia (HPO)", + "hematopoietic cell", + "Abnormal granulocyte morphology (HPO)", + "abnormal forelimb zeugopod bone", + "Decreased head circumference (HPO)", + "disconnected anatomical group", + "hematopoietic system", + "abnormal forebrain morphology", + "digitopodium region", + "Abnormal neutrophil count (HPO)", + "abnormal immune system", + "Abnormal external genitalia (HPO)", + "Abnormality of the kidney (HPO)", + "protein-DNA complex organization", + "organ", + "programmed DNA elimination by chromosome breakage", + "organism subdivision", + "Behavioral abnormality (HPO)", + "developmental process involved in reproduction", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "abnormal multicellular organism morphology", + "abnormal kidney morphology", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "Duplication of bones involving the upper extremities (HPO)", + "All (HPO)", + "behavior", + "erythroid lineage cell", + "blood cell", + "abnormal epiphysis morphology in the skeleton of manus", + "U-shaped kidney", + "material anatomical entity", + "material entity", + "abnormality of nervous system physiology", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "organism substance", + "Abnormal leukocyte count (HPO)", + "pectoral appendage", + "multicellular organism", + "abnormal location of anatomical entity", + "Abnormality of blood and blood-forming tissues (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "abnormal long bone morphology", + "entity", + "aplasia or hypoplasia of anatomical entity", + "enucleated reticulocyte", + "forelimb zeugopod bone", + "quality", + "3-D shape anatomical entity in independent continuant", + "anatomical system", + "abnormal anatomical entity morphology", + "Duplication of thumb phalanx (HPO)", + "appendicular skeleton", + "abdomen", + "male reproductive system", + "limb bone", + "leukocyte", + "renal collecting system", + "Cognitive impairment (HPO)", + "zone of organ", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", + "abnormal limb", + "tissue", + "Abnormality of skin pigmentation (HPO)", + "anatomical structure", + "renal system", + "epiphysis of phalanx", + "myeloid leukocyte", + "non-connected functional system", + "abnormally localised anatomical entity", + "anatomical line between pupils", + "Abnormal localization of kidney (HPO)", + "male gamete", + "ectoderm-derived structure", + "specifically dependent continuant", + "abnormal nervous system morphology", + "abnormality of anatomical entity mass", + "bone element", + "kidney", + "individual digit of digitopodial skeleton", + "abnormal internal genitalia", + "somatic cell", + "Abnormal platelet morphology (HPO)", + "Abnormal cerebral morphology (HPO)", + "testis", + "craniocervical region", + "Abnormality of upper limb epiphysis morphology (HPO)", + "3-D shape anatomical entity", + "Abnormal cellular phenotype (HPO)", + "cellular component organization or biogenesis", + "abnormal digit morphology", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the manus", + "Abnormal nervous system morphology (HPO)", + "Abnormality of skull size (HPO)", "absent anatomical entity in the renal system", - "absent kidney in the independent continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "Anemic pallor", - "abnormal bone marrow cell morphology", - "Anemia", - "abnormal bone marrow cell", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal platelet morphology", - "abnormally decreased number of platelet", - "abnormal number of anatomical enitites of type platelet", - "Abnormality of male external genitalia", - "abnormal male reproductive organ morphology", - "changed developmental process rate", - "absent sperm in the independent continuant" + "abnormal hematopoietic system", + "subdivision of organism along main body axis", + "aplasia or hypoplasia of skeleton", + "abnormal cellular response to stress", + "independent continuant", + "limb endochondral element", + "anatomical entity", + "thoracic cavity element", + "abnormal phenotype by ontology source", + "Abnormality of the skin (HPO)", + "reproduction", + "Abnormality of limbs (HPO)", + "abnormal telencephalon morphology", + "Ectopic kidney (HPO)" ], "has_phenotype_count": 32, "highlight": null, @@ -3327,7 +5248,6 @@ "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0005344", "HP:0002023", "HP:0001824", @@ -3341,18 +5261,19 @@ "HP:0001882", "HP:0002863", "HP:0002119", - "HP:0001510", + "HP:0001562", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006824", "HP:0006265", @@ -3424,2013 +5345,3093 @@ "HP:0001000" ], "has_phenotype_label": [ - "Upslanted palpebral fissure", - "Absent testis", - "Abnormal pinna morphology", - "Tracheoesophageal fistula", - "Astigmatism", - "Hydrocephalus", - "Intellectual disability", - "Abnormal preputium morphology", - "Arteriovenous malformation", - "Abnormal morphology of ulna", - "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", - "Abnormal carotid artery morphology", - "Anal atresia", - "Weight loss", - "Cataract", - "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", - "Microcephaly", - "Leukopenia", - "Myelodysplasia", - "Ventriculomegaly", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the hypothalamus-pituitary axis", - "Hypertelorism", - "Azoospermia", - "Oligohydramnios", - "Duodenal stenosis", - "Clubbing of toes", - "Abnormal localization of kidney", - "Decreased fertility in males", - "Aplasia/Hypoplasia of the uvula", - "Renal hypoplasia/aplasia", - "Multiple cafe-au-lait spots", - "Cranial nerve paralysis", - "Aplasia/Hypoplasia of fingers", - "Finger syndactyly", - "Reduced bone mineral density", - "Clinodactyly of the 5th finger", - "Hypoplasia of the ulna", - "Hip dislocation", - "Abnormality of femur morphology", - "Spina bifida", - "Aganglionic megacolon", - "Meckel diverticulum", - "Frontal bossing", - "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", - "Umbilical hernia", - "Intrauterine growth retardation", - "Hyperreflexia", - "Triphalangeal thumb", - "Bicornuate uterus", - "Nystagmus", - "Microphthalmia", - "Proptosis", - "Visual impairment", - "Abnormality of vision", - "Abnormal eyelid morphology", - "Strabismus", - "Abnormality of the eye", - "Hearing impairment", - "Hearing abnormality", - "Micrognathia", - "Sloping forehead", - "Facial asymmetry", - "Epicanthus", - "Dolichocephaly", - "High palate", - "Cleft palate", - "Hypogonadism", - "Abnormality of the uterus", - "Renal insufficiency", - "Hydroureter", - "Abnormal testis morphology", - "Cryptorchidism", - "Recurrent urinary tract infections", - "Short palpebral fissure", - "Abnormal renal morphology", - "Neoplasm", - "Abnormal cardiac septum morphology", - "Global developmental delay", - "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", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Abnormal thumb morphology", - "Hypopigmented skin patches", - "Abnormality of skin pigmentation" + "Upslanted palpebral fissure (HPO)", + "Absent testis (HPO)", + "Abnormal pinna morphology (HPO)", + "Tracheoesophageal fistula (HPO)", + "Astigmatism (HPO)", + "Hydrocephalus (HPO)", + "Intellectual disability (HPO)", + "Abnormal preputium morphology (HPO)", + "Arteriovenous malformation (HPO)", + "Abnormal morphology of ulna (HPO)", + "Abnormal nervous system morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Anal atresia (HPO)", + "Weight loss (HPO)", + "Cataract (HPO)", + "Ptosis (HPO)", + "Choanal atresia (HPO)", + "Hypospadias (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Scoliosis (HPO)", + "Microcephaly (HPO)", + "Leukopenia (HPO)", + "Myelodysplasia (HPO)", + "Ventriculomegaly (HPO)", + "Oligohydramnios (HPO)", + "Abnormality of the liver (HPO)", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Hypertelorism (HPO)", + "Azoospermia (HPO)", + "Growth delay (HPO)", + "Duodenal stenosis (HPO)", + "Clubbing of toes (HPO)", + "Abnormal localization of kidney (HPO)", + "Decreased fertility in males (HPO)", + "Aplasia/Hypoplasia of the uvula (HPO)", + "Renal hypoplasia/aplasia (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "Multiple cafe-au-lait spots (HPO)", + "Cranial nerve paralysis (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Finger syndactyly (HPO)", + "Reduced bone mineral density (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "Hypoplasia of the ulna (HPO)", + "Hip dislocation (HPO)", + "Abnormality of femur morphology (HPO)", + "Spina bifida (HPO)", + "Aganglionic megacolon (HPO)", + "Meckel diverticulum (HPO)", + "Frontal bossing (HPO)", + "Toe syndactyly (HPO)", + "Pes planus (HPO)", + "Abnormal foot morphology (HPO)", + "Abnormal aortic morphology (HPO)", + "Abnormal aortic valve morphology (HPO)", + "Patent ductus arteriosus (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "Tetralogy of Fallot (HPO)", + "Atrial septal defect (HPO)", + "Umbilical hernia (HPO)", + "Intrauterine growth retardation (HPO)", + "Hyperreflexia (HPO)", + "Triphalangeal thumb (HPO)", + "Bicornuate uterus (HPO)", + "Nystagmus (HPO)", + "Microphthalmia (HPO)", + "Proptosis (HPO)", + "Visual impairment (HPO)", + "Abnormality of vision (HPO)", + "Abnormal eyelid morphology (HPO)", + "Strabismus (HPO)", + "Abnormality of the eye (HPO)", + "Hearing impairment (HPO)", + "Hearing abnormality (HPO)", + "Micrognathia (HPO)", + "Sloping forehead (HPO)", + "Facial asymmetry (HPO)", + "Epicanthus (HPO)", + "Dolichocephaly (HPO)", + "High palate (HPO)", + "Cleft palate (HPO)", + "Hypogonadism (HPO)", + "Abnormality of the uterus (HPO)", + "Renal insufficiency (HPO)", + "Hydroureter (HPO)", + "Abnormal testis morphology (HPO)", + "Cryptorchidism (HPO)", + "Recurrent urinary tract infections (HPO)", + "Short palpebral fissure (HPO)", + "Abnormal renal morphology (HPO)", + "Neoplasm (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "Global developmental delay (HPO)", + "Abnormality of the urinary system (HPO)", + "Irregular hyperpigmentation (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "Short stature (HPO)", + "Abnormality of chromosome stability (HPO)", + "Abnormality of the upper limb (HPO)", + "Anemia (HPO)", + "Thrombocytopenia (HPO)", + "Abnormality of blood and blood-forming tissues (HPO)", + "Abnormal thumb morphology (HPO)", + "Hypopigmented skin patches (HPO)", + "Abnormality of skin pigmentation (HPO)" ], "has_phenotype_closure": [ - "UPHENO:0042775", - "UPHENO:0077885", - "HP:0001053", "UPHENO:0077872", - "UPHENO:0077892", - "UPHENO:0086005", - "UPHENO:0086049", - "UPHENO:0085189", - "UPHENO:0084987", - "UPHENO:0086173", - "UPHENO:0085070", - "HP:0001939", - "HP:0003220", - "UPHENO:0080351", - "UPHENO:0081424", - "UPHENO:0085068", - "UPHENO:0085118", - "HP:0001877", + "HP:0001053", + "HP:0001872", + "HP:0011873", + "CL:0000233", + "CL:0000225", + "HP:0011017", + "GO:0005623", + "GO:0048871", + "GO:0048869", + "HP:0012130", "HP:0025461", - "HP:0005522", - "UPHENO:0088162", "HP:0020047", - "UPHENO:0087510", - "HP:0012745", + "GO:0030099", + "GO:0034101", + "GO:0048468", + "HP:0010972", + "HP:0005522", + "HP:0002818", + "UPHENO:0080187", + "HP:0001263", "UPHENO:0046753", - "HP:0010978", + "UPHENO:0075198", "HP:0032101", "UPHENO:0053580", - "HP:0025633", - "UPHENO:0002806", - "UPHENO:0002411", - "HP:0012211", - "UPHENO:0086128", - "HP:0008373", + "UPHENO:0081755", + "UBERON:0036295", + "UBERON:0000056", + "HP:0000072", + "UPHENO:0076780", + "HP:0000135", + "UBERON:0003216", "UPHENO:0033635", "HP:0000175", - "HP:5201015", - "HP:0000202", - "HP:0000218", - "UPHENO:0034110", - "UPHENO:0001208", - "HP:0000268", + "UPHENO:0063513", "UPHENO:0075148", - "UPHENO:0087058", + "UBERON:0013766", + "UBERON:0012180", "HP:0000286", - "UPHENO:0087928", - "HP:0000069", - "UPHENO:0002442", - "UPHENO:0087307", - "UPHENO:0084729", + "UBERON:1000021", + "UPHENO:0020809", + "UPHENO:0075159", "UPHENO:0084734", + "HP:0001999", + "UPHENO:0076704", "UPHENO:0041151", - "UPHENO:0041083", - "HP:0009118", - "HP:0011821", - "HP:0034261", - "HP:0002692", - "HP:0030791", - "HP:0009122", + "UPHENO:0080087", "UPHENO:0081141", - "UPHENO:0066972", + "UPHENO:0081314", + "UBERON:0001708", + "UPHENO:0019661", + "UBERON:0001710", "UPHENO:0083646", - "UPHENO:0081788", - "UPHENO:0088116", - "HP:0000028", + "UPHENO:0081786", + "HP:0009116", + "HP:0000364", + "GO:0050954", + "UPHENO:0052970", "UPHENO:0052231", - "UPHENO:0050625", "UPHENO:0005518", - "HP:0000365", - "UPHENO:0052970", - "HP:0000549", "HP:0000486", + "UPHENO:0063527", "UPHENO:0050236", - "HP:0000504", + "UPHENO:0052164", + "GO:0007601", + "GO:0050953", "HP:0000520", - "HP:0100887", - "UPHENO:0075219", - "UPHENO:0002240", - "HP:0007670", - "UPHENO:0078736", - "HP:0040194", - "UPHENO:0080602", - "HP:0012547", + "HP:0000568", + "NBO:0000411", + "UPHENO:0080369", + "NBO:0000444", "HP:0000496", - "HP:0011389", + "UPHENO:0080601", + "NBO:0000417", + "HP:0000639", + "UPHENO:0079839", "HP:0001751", - "UPHENO:0079837", - "HP:0006501", - "UPHENO:0041033", + "UPHENO:0078736", + "HP:0010460", + "UPHENO:0003053", + "UBERON:0003134", + "UBERON:0000995", + "UBERON:0013515", "UPHENO:0005170", - "HP:0000130", - "UPHENO:0076748", + "UPHENO:0020949", "UPHENO:0041664", - "HP:0000813", "UPHENO:0041395", "HP:0000008", - "UPHENO:0076724", - "HP:0001199", - "HP:0009602", - "UPHENO:0087806", - "HP:0000708", - "UPHENO:0050613", - "UPHENO:0055092", - "HP:0100022", + "CL:0000457", + "HP:0000130", + "UPHENO:0076766", + "UBERON:0003975", + "HP:0031105", + "UBERON:0005897", + "UPHENO:0081423", + "UPHENO:0021800", + "UBERON:0001463", + "UBERON:0015024", + "HP:0005918", + "UBERON:0010688", + "HP:0001172", + "GO:0009605", "UPHENO:0079833", - "HP:0001347", - "UPHENO:0083263", - "UPHENO:0049586", "UPHENO:0049622", - "UPHENO:0005642", - "UPHENO:0077877", + "GO:0050882", + "GO:0060004", + "NBO:0000389", + "UPHENO:0050606", "UPHENO:0050034", - "HP:0002719", "UPHENO:0075684", + "HP:0001551", "HP:0004298", - "HP:0100790", + "UPHENO:0075843", "HP:0010866", - "UPHENO:0086122", - "UPHENO:0033616", - "HP:0003549", - "UPHENO:0076794", - "UPHENO:0053644", + "HP:0004299", + "UPHENO:0002712", + "UBERON:0001712", "HP:0001537", - "HP:0005120", - "UPHENO:0080187", - "HP:0002623", + "HP:0003549", + "UPHENO:0077874", + "UBERON:0017672", + "HP:0011994", + "HP:0001631", + "UPHENO:0015303", + "UPHENO:0019897", + "UBERON:0002085", + "UBERON:0002081", + "HP:0001641", "HP:0031654", - "UPHENO:0000996", - "UPHENO:0019888", + "HP:0003220", + "HP:0011563", "UPHENO:0084715", - "UPHENO:0033604", + "UPHENO:0041033", + "HP:0031826", + "UPHENO:0019476", + "HP:0011545", + "UPHENO:0019890", "HP:0001629", - "HP:0001707", - "HP:0001714", + "UPHENO:0076732", + "UPHENO:0081830", + "UPHENO:0000996", + "HP:0000028", "UPHENO:0084482", - "HP:0001637", - "UPHENO:0021800", + "HP:0031653", + "HP:0000268", + "UPHENO:0019405", + "HP:0010438", + "HP:0001636", + "UPHENO:0033604", + "UPHENO:0066927", + "UPHENO:0076781", + "UBERON:0005983", "HP:0001638", - "UPHENO:0077800", - "UPHENO:0042834", - "UPHENO:0087022", - "UPHENO:0020809", - "HP:0001639", - "UPHENO:0015290", + "UBERON:0018260", + "UBERON:0000383", + "UBERON:0002349", + "UBERON:0005985", + "UPHENO:0020587", "HP:0011603", - "UPHENO:0087018", - "HP:0001643", - "UPHENO:0087309", - "HP:0012130", - "UPHENO:0033603", - "HP:0001654", - "UPHENO:0087612", - "HP:0000347", - "UPHENO:0015317", - "UPHENO:0086858", - "UPHENO:0076810", - "UPHENO:0087070", + "UBERON:0018674", + "HP:0100887", + "UBERON:0002201", + "HP:0001627", + "UBERON:0004151", + "UBERON:0004145", + "UBERON:0015228", + "UPHENO:0076743", + "UPHENO:0021059", + "UBERON:0002084", + "UBERON:0005956", + "UBERON:0000948", + "UBERON:0035553", "UPHENO:0015319", - "UPHENO:0015327", + 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- "UPHENO:0054970", - "HP:0000002", - "UPHENO:0076740", - "HP:0000953", - "HP:0030311", - "BFO:0000001", - "UPHENO:0002635", - "UPHENO:0080662", - "HP:0011849", - "UPHENO:0080087", - "HP:0012733", - "HP:0011121", - "UPHENO:0074589", - "HP:0006824", - "HP:0005922", - "UPHENO:0050622", - "HP:0040068", - "UPHENO:0002708", - "HP:0001872", - "UPHENO:0084761", - "HP:0001010", - "HP:0031105", - "UPHENO:0087974", - "HP:0045060", + "UBERON:0001457", + "UBERON:0015003", + "CL:0000413", + "UPHENO:0002597", + "HP:0000324", + "UBERON:0001691", + "UBERON:0000473", + "UPHENO:0049970", + "UBERON:0000011", + "UPHENO:0020950", + "UPHENO:0076809", + "UBERON:0022303", + "UBERON:0011249", + "UBERON:0002390", + "UPHENO:0002678", + "UPHENO:0077854", + "UPHENO:0078215", + "UPHENO:0079876", + "HP:0004378", + "HP:0012718", + "HP:0011842", + "HP:0001639", + "HP:0010461", + "HP:0100790", + "HP:0045010", + "UBERON:0005156", + "HP:0000001", + "UPHENO:0019615", "HP:0005927", - "UPHENO:0072402", + "UBERON:0005726", + "UBERON:0005423", + "UPHENO:0002599", + "UBERON:0001684", + "UBERON:0003126", + "HP:0025031", + "CL:0000015", + "UPHENO:0020169", + "UBERON:0000479", + "UPHENO:0000543", + "UBERON:0010323", + "UBERON:0002471", + "UPHENO:0076718", + "CL:0000081", + "UPHENO:0082129", + "UBERON:0001004", + "UPHENO:0081790", + "GO:0022414", + "UBERON:0000014", + "HP:0040068", + "GO:0032501", + "BFO:0000015", + "HP:0040019", + "UPHENO:0002903", + "UPHENO:0002332", + "UPHENO:0076727", + "UPHENO:0081566", + "UBERON:0015001", + "HP:0000027", + "UBERON:0002470", + "UPHENO:0049587", + "UPHENO:0050625", + "UPHENO:0004536", + "UBERON:0015410", + "UPHENO:0081581", + "UPHENO:0078730", + "UBERON:0008907", + "HP:0002119", + "UBERON:0001359", + "HP:0032076", + "UBERON:0007375", + "CL:0000000", + "UPHENO:0005597", + "UPHENO:0002378", + "UPHENO:0082875", + "UPHENO:0076752", + "UBERON:0001007", + "HP:0012745", + "UPHENO:0000541", + "UPHENO:0080351", + "UPHENO:0075220", + "UPHENO:0080585", + "GO:0048856", + "UPHENO:0003055", + "UBERON:0004766", + "HP:0000022", + "UBERON:0000990", + "UPHENO:0050008", + "UPHENO:0021284", + "HP:0011446", + "UBERON:0001968", + "UPHENO:0002642", + "HP:0010987", + "UBERON:0007196", "UPHENO:0019886", - "UPHENO:0084766", + "HP:0025354", + "UPHENO:0015290", + "UBERON:0002082", + "UBERON:0001890", + "UPHENO:0081868", + "UPHENO:0082682", + "UBERON:0006555", + "UPHENO:0020539", + "BFO:0000001", + "HP:0011314", + "UBERON:0001456", + "UPHENO:0080165", + "HP:0000598", + "CL:0000586", + "UPHENO:0012541", + "UBERON:0003133", + "UPHENO:0020651", + "UBERON:0005282", + "UBERON:0003037", + "UPHENO:0075945", + "UPHENO:0081584", + "PATO:0000001", + "HP:0200006", + "GO:0050879", + "UBERON:0000964", + "UBERON:0001819", + "UPHENO:0076703", + "HP:0001873", + "HP:0010468", + "HP:0000492", + "UBERON:0002384", + "HP:0002813", + "UBERON:0006311", + "UBERON:0001893", + "UPHENO:0033603", + "UPHENO:0075877", + "UBERON:0002099", + "UBERON:0005409", + "UPHENO:0006910", + "UBERON:0004571", + "UBERON:0000970", + "HP:0000174", + "NBO:0000388", + "UBERON:0002113", + "UBERON:5102544", + "UBERON:0001809", + "UBERON:0015021", + "HP:0008678", + "UPHENO:0081436", + "CL:0000300", + "UPHENO:0020542", + "HP:0000290", + "UPHENO:0081570", + "UBERON:0003920", + "UPHENO:0019472", "HP:0001155", - "HP:0025033", - "UPHENO:0078159", - "UPHENO:0076786", - "UPHENO:0078215", - "HP:0012638", - "HP:0001780", - "HP:0006101", - "UPHENO:0076735", - "UPHENO:0078081", - "HP:0001551", - "UPHENO:0086792", - "UPHENO:0078288", - "UPHENO:0080585", - "UPHENO:0078179", - "HP:0004348", - "HP:0004349", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0087203", - "UPHENO:0082834", - "HP:0004209", - "UPHENO:0084511", - "UPHENO:0086144", - "HP:0004097", - "HP:0009179" - ], - "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation", - "Hypopigmented skin patches", - "decreased pigmentation in skin of body", - "Hypopigmentation of the skin", - "decreased pigmentation in multicellular organism", - "abnormal blood cell morphology", - "abnormal platelet morphology", - "Thrombocytopenia", - "Abnormal platelet count", - "abnormal blood cell", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", - "Abnormality of body height", - "abnormal erythrocyte morphology", - "Abnormal myeloid cell morphology", - "abnormal hematopoietic cell morphology", - "Abnormal cell morphology", - "Sideroblastic anemia", - "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", - "decreased length of palpebral fissure", - "Recurrent urinary tract infections", - "Unusual infection", - "Abnormality of immune system physiology", - "abnormal ureter", - "Abnormal ureter morphology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", - "abnormality of renal system physiology", - "Puberty and gonadal disorders", - "abnormally decreased functionality of the gonad", - "Orofacial cleft", - "High palate", - "increased height of anatomical entity in independent continuant", - "abnormality of anatomical entity height", - "Dolichocephaly", - "increased size of the head", - "abnormal size of head", - "abnormal skin of face morphology", - "abnormal skin of head morphology", - "abnormal forehead morphology", - "abnormally localised anatomical entity", - "Micrognathia", - "aplasia or hypoplasia of mandible", - "decreased size of the mandible", - "aplasia or hypoplasia of skull", - "facial bone hypoplasia", - "Aplasia/Hypoplasia involving bones of the skull", - "mandible hypoplasia", - "anatomical entity hypoplasia in face", - "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "Facial asymmetry", - "abnormal sensory perception of sound", - "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "Cryptorchidism", - "Nystagmus", - "abnormality of ear physiology", - "Abnormal vestibular function", - "abnormal vestibulo-ocular reflex", + "UBERON:0002102", + "UPHENO:0005982", + "UPHENO:0005651", + "UPHENO:0005016", + "HP:0011961", + "HP:0000356", + "HP:0010293", + "HP:0002086", + "UPHENO:0078729", + "UPHENO:0001440", + "UBERON:0012360", + "UPHENO:0021561", + "UPHENO:0020853", + "UBERON:0002513", + "UBERON:0004572", + "UBERON:0000475", + "HP:0031704", + "UBERON:0004537", + "HP:0000271", + "UPHENO:0063595", + "UBERON:0000161", + "UBERON:0004716", + "UBERON:0000464", + "CL:0000019", + "UBERON:0001801", + "UPHENO:0001208", + "UBERON:0000020", + "UBERON:0003457", + "UBERON:0004288", + "HP:0000032", + "UPHENO:0084729", + "UBERON:0000955", + "HP:0000079", + "GO:0002262", + "RO:0002577", + "UPHENO:0021791", + "UBERON:5106048", + "UPHENO:0075696", + "UPHENO:0021038", + "UBERON:0000468", + "UBERON:0007832", + "HP:0010469", + "UBERON:0001766", + "UPHENO:0021746", + "UPHENO:0084448", + "UBERON:0002365", + "UPHENO:0050622", + "HP:0030311", + "HP:0012372", + "BFO:0000020", + "HP:0002650", + "UBERON:0004054", + "UBERON:0003697", + "HP:0030962", + "UBERON:0004905", + "UBERON:0000010", + "UBERON:0011676", + "GO:0050877", + "UPHENO:0004523", + "HP:0000035", + "UBERON:0010000", + "UPHENO:0041525", + "HP:0033353", + "HP:0032039", + "UBERON:0001460", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0001032", + "UBERON:0003498", + "HP:0001643", + "UBERON:0004086", + "UPHENO:0001003", + "UBERON:0000463", + "UBERON:5102389", + "UBERON:0010409", + "UBERON:0012358", + "UBERON:0001043", + "HP:0010978", + "UBERON:0004089", + "UBERON:0004111", + "UBERON:0004710", + "HP:0001924", + "UBERON:0003620", + "UBERON:0034921", + "UPHENO:0076692", + "UPHENO:0054957", + "UPHENO:0077885", + "UPHENO:0001005", + "HP:0004325", + "UPHENO:0042834", + "HP:0000481", + "UBERON:0016529", + "HP:0100691", + "UBERON:0010314", + "HP:0030791", + "CL:0000003", + "BFO:0000003", + "UBERON:0007811", + "UPHENO:0050620", + "UBERON:0004122", + "UPHENO:0002844", + "GO:0042592", + "UBERON:0001711", + "UBERON:0002387", + "HP:0012331", + "HP:0008050", + "UPHENO:0063599", + "UPHENO:0002536", + "HP:0000813", + "UPHENO:0080382", + "UBERON:0002417", + "HP:0002270", + "UPHENO:0076730", + "UBERON:0000047", + "UPHENO:0049985", + "UBERON:0015203", + "UPHENO:0041821", + "UPHENO:0002595", + "HP:0000153", + "UPHENO:0002433", + "UBERON:0004456", + "BFO:0000040", + "HP:0012639", + "HP:0012443", + "UBERON:0001530", + "HP:0000025", + "UBERON:0000467", + "UBERON:0000064", + "UBERON:0006800", + "CL:0002242", + "UBERON:0000160", + "UPHENO:0002719", + "UPHENO:0020998", + "UPHENO:0021447", + "UPHENO:0079828", + "UBERON:0035639", + "UBERON:5001463", + "UBERON:0000019", + "UPHENO:0015280", + "HP:0040069", + "UBERON:0005401", + "UBERON:0000179", + "HP:0030669", + "UBERON:0001449", + "HP:0001667", + "HP:0004349", + "HP:0000508", + "HP:0000377", + "UPHENO:0068971", + "HP:0000234", + "UPHENO:0041146", + "HP:0000505", + "GO:0007276", + "UBERON:0000465", + "HP:0000582", + "UBERON:0013765", + "UPHENO:0049940", + "UBERON:0010230" + ], + "has_phenotype_closure_label": [ + "decreased pigmentation in multicellular organism", + "decreased biological_process in skin of body", + "decreased pigmentation in skin of body", + "Thrombocytopenia (HPO)", + "anucleate cell", + "serotonin secreting cell", + "decreased height of the multicellular organism", + "Abnormality of body height (HPO)", + "decreased size of the multicellular organism", + "decreased height of the anatomical entity", + "abnormality of multicellular organism height", + "Hypopigmentation of the skin (HPO)", + "Anemia (HPO)", + "oxygen accumulating cell", + "Abnormal cell morphology (HPO)", + "myeloid cell", + "blood cell", + "homeostatic process", + "cellular process", + "Abnormal erythroid lineage cell morphology (HPO)", + "erythrocyte differentiation", + "myeloid cell differentiation", + "cell differentiation", + "myeloid cell homeostasis", + "cellular developmental process", + "Abnormality of the radius (HPO)", + "Abnormal cellular physiology (HPO)", + "abnormal radius bone", + "radius bone", + "Global developmental delay (HPO)", + "Short palpebral fissure (HPO)", + "abnormal size of palpebral fissure", + "Abnormality of immune system physiology (HPO)", + "abnormality of immune system physiology", + "abnormally localised anatomical entity", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "renal pelvis/ureter", + "Abnormal ureter morphology (HPO)", + "abnormal ureter morphology", + "ureter", + "abnormality of renal system physiology", + "hard palate", + "abnormal incomplete closing of the secondary palate", + "Abnormal hard palate morphology (HPO)", + "Orofacial cleft", + "increased height of the secondary palate", + "abnormal skin of head morphology", + "increased length of the epicanthal fold", + "skin of head", + "epicanthal fold", + "abnormal skin of face morphology", + "upper eyelid", + "head or neck skin", + "Facial asymmetry (HPO)", + "abnormal face morphology", + "abnormal shape of forehead", + "sloped forehead", + "abnormal forehead morphology", + "jaw skeleton", + "aplasia or hypoplasia of skull", + "mandible hypoplasia", + "anatomical entity hypoplasia in face", + "bone of lower jaw", + "Micrognathia (HPO)", + "Hypoplastic facial bones (HPO)", + "dentary", + "facial bone hypoplasia", + "decreased biological_process in independent continuant", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "Abnormal mandible morphology (HPO)", + "aplasia or hypoplasia of mandible", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal asymmetry of anatomical entity", + "decreased sensory perception of sound", + "Hearing impairment (HPO)", + "Abnormality of vision (HPO)", + "visual perception", + "sensory perception", + "decreased qualitatively visual perception", + "Proptosis (HPO)", + "Microphthalmia (HPO)", + "abnormal size of eyeball of camera-type eye", + "Abnormality of globe size (HPO)", "abnormal internal ear", - "abnormal female reproductive system", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "Abnormal involuntary eye movements (HPO)", + "Abnormal vestibulo-ocular reflex (HPO)", + "Vestibular dysfunction (HPO)", + "Strabismus (HPO)", + "Functional abnormality of the inner ear (HPO)", + "internal ear", + "Abnormality of eye movement (HPO)", + "Abnormality of the inner ear (HPO)", + "abnormality of ear physiology", + "abnormality of internal ear physiology", + "abnormal eye movement", + "female reproductive system", + "female organism", "shape uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "Abnormality of the uterus", + "internal female genitalia", + "sensory perception of sound", + "female reproductive organ", + "uterus", + "skin of eyelid", + "bicornuate anatomical entity", + "Abnormal morphology of female internal genitalia (HPO)", + "bicornuate uterus", + "decreased qualitatively sensory perception of sound", + "subdivision of oviduct", "abnormal uterus", - "abnormal phalanx of manus morphology", - "Abnormal finger phalanx morphology", - "Abnormality of thumb phalanx", - "Triphalangeal thumb", - "increased reflex", - "Hyperreflexia", + "Abnormal uterus morphology (HPO)", + "manual digit 1 plus metapodial segment", + "skeleton of manual acropodium", + "abnormally decreased functionality of the gonad", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "Abnormal finger phalanx morphology (HPO)", + "manual digit 1 phalanx endochondral element", + "phalanx of manus", + "Abnormal thumb morphology (HPO)", + "body part movement", + "voluntary movement behavior", + "decreased qualitatively pigmentation in independent continuant", "abnormal behavior", + "Abnormality of movement (HPO)", + "Behavioral abnormality (HPO)", + "Hyperreflexia (HPO)", + "neuromuscular process", + "Visual impairment (HPO)", + "voluntary musculoskeletal movement", + "behavior process", + "reflex", + "abnormal response to external stimulus", "abnormal musculoskeletal movement", - "increased qualitatively response to stimulus", + "multicellular organismal movement", + "abnormal voluntary movement behavior", "decreased embryo development", - "abnormal embryo development", - "Intrauterine growth retardation", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal umbilicus morphology", - "Abnormality of connective tissue", - "shape forehead", - "herniated abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Intrauterine growth retardation (HPO)", + "connective tissue", + "abdominal viscera", + "biogenic amine secreting cell", + "changed embryo development rate", + "abdominal wall", + "abnormal incomplete closing of the abdominal wall", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal cardiac atrium morphology (HPO)", + "Abnormality of the ureter (HPO)", + "interatrial septum", + "Atrial septal defect (HPO)", + "Abnormal atrial septum morphology (HPO)", + "abnormal cardiac atrium morphology", "abnormal interatrial septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "Abnormal cardiac septum morphology", + "Abnormal heart valve physiology (HPO)", + "interventricular septum", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", + "hypertrophic heart right ventricle", + "Abnormal cardiac ventricle morphology (HPO)", + "Abnormality of the uterus (HPO)", + "Abnormal pulmonary valve physiology (HPO)", + "abnormal incomplete closing of the interventricular septum", + "Overriding aorta (HPO)", + "abnormal size of heart right ventricle", "abnormally increased volume of anatomical entity", - "Tetralogy of Fallot", - "abnormal heart right ventricle morphology", - "Ventricular hypertrophy", - "Right ventricular hypertrophy", + "Tetralogy of Fallot (HPO)", + "abnormal pulmonary valve morphology", + "abnormal cardiac ventricle morphology in the heart", + "cardiac septum", + "Pulmonic stenosis (HPO)", + "right cardiac chamber", + "decreased qualitatively biological_process in independent continuant", + "abnormal behavior process", + "constricted pulmonary valve", + "abnormal cardiac ventricle morphology in the independent continuant", "abnormal cardiac septum morphology", - "Overriding aorta", - "abnormal interventricular septum morphology", - "abnormally decreased functionality of the anatomical entity", + "anatomical entity dysfunction in independent continuant", + "myocardium", + "Abnormal myocardium morphology (HPO)", "abnormally decreased functionality of the myocardium", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", - "abnormal aortic valve morphology", - "abnormal anatomical entity morphology in the heart", - "abnormal outflow part of left ventricle morphology", - "abnormal eye movement", + "abnormally decreased functionality of the anatomical entity", + "Hypertrophic cardiomyopathy (HPO)", + "abnormal coronary vessel morphology", + "conceptus", + "abnormal systemic artery morphology", + "vasculature of organ", + "vasculature of trunk", + "heart blood vessel", + "abnormal artery morphology", + "thoracic segment blood vessel", "abnormal artery morphology in the independent continuant", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "Abnormal aortic morphology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "flat longitudinal arch of pes", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", - "Abnormal calvaria morphology", - "abnormal neurocranium morphology", - "Abnormal cerebral cortex morphology", - "abnormally protruding anatomical entity", - "Abnormal shape of the frontal region", - "flat anatomical entity", - "abnormal cerebral cortex morphology", + "Congenital malformation of the great arteries (HPO)", + "embryonic cardiovascular system", + "abnormal ductus arteriosus morphology", + "Unusual infection (HPO)", + "outflow tract", + "abnormal embryo development", + "abnormal abdominal wall", + "abnormal cardial valve morphology in the independent continuant", + "lower jaw region", + "abnormal uterus morphology", + "valve", + "aplasia or hypoplasia of radius bone", + "Abnormal aortic valve morphology (HPO)", + "semi-lunar valve", + "cardiac ventricle", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "outflow tract of ventricle", + "heart plus pericardium", + "outflow part of left ventricle", + "aortic system", + "abnormal aorta morphology", + "Abnormal aortic morphology (HPO)", + "thoracic cavity blood vessel", + "great vessel of heart", + "flattened anatomical entity", + "flat anatomical entity in independent continuant", + "Toe syndactyly (HPO)", + "abnormal facial skeleton morphology", + "Aplasia/Hypoplasia of the radius (HPO)", + "Frontal bossing (HPO)", + "central nervous system gray matter layer", + "dermal bone", + "pallium", + "facial skeleton", + "central nervous system cell part cluster", "abnormal shape of frontal cortex", + "frontal cortex", + "cortex of cerebral lobe", + "neurocranium", + "secretory cell", + "bone of craniocervical region", + "heart layer", + "intramembranous bone", + "Ventricular hypertrophy (HPO)", + "membrane bone", + "abnormal forehead", "abnormal frontal cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", + "cerebral hemisphere gray matter", + "forehead", + "abnormal tetrapod frontal bone morphology", + "Abnormal facial skeleton morphology (HPO)", + "abnormal cerebral cortex morphology", + "primary subdivision of cranial skeletal system", + "abnormal spatial pattern of anatomical entity", + "vault of skull", + "dermal skeleton", + "dermatocranium", + "cerebral hemisphere", + "Abnormality of calvarial morphology (HPO)", "abnormal vault of skull", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal size of heart right ventricle", - "Meckel diverticulum", + "abnormal ileum morphology", + "Abnormal ileum morphology (HPO)", + "ganglion of peripheral nervous system", + "decreased pigmentation in independent continuant", + "neocortex", + "parasympathetic ganglion", + "Bicornuate uterus (HPO)", + "autonomic nervous system", + "abnormal ganglion of peripheral nervous system", + "Abnormal platelet morphology (HPO)", + "Abnormality of enteric ganglion morphology (HPO)", "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal ganglion morphology", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Hernia", - "Vertebral arch anomaly", - "decreased biological_process in skin of body", + "platelet", + "enteric ganglion", + "Abnormal autonomic nervous system morphology (HPO)", + "Aganglionic megacolon (HPO)", + "decreased length of palpebral fissure", + "abnormal parasympathetic ganglion morphology", "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "abnormal vertebral column morphology", - "Spinal dysraphism", - "Abnormal vertebral morphology", - "Abnormal spinal cord morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "abnormal bony vertebral centrum morphology", - "abnormal opening of the anatomical entity", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "abnormal neural tube morphology", - "Neural tube defect", - "abnormal shape of forehead", + "abnormal ganglion", + "involuntary movement behavior", + "abnormal enteric nervous system morphology", + "dorsal region element", + "neural tube", + "presumptive structure", + "reflexive behavior", "abnormal tube formation", + "Abnormality of the spinal cord (HPO)", + "manual digit 1", + "neural tube closure", + "chordate embryonic development", + "spinal cord", + "Spinal dysraphism (HPO)", + "abnormal heart morphology", + "tube development", + "embryonic morphogenesis", + "tube morphogenesis", + "bony vertebral centrum", + "irregular bone", + "Increased head circumference (HPO)", + "future central nervous system", + "vertebral centrum element", + "arch of centrum of vertebra", + "vertebral element", + "abnormal neural tube morphology", + "Vertebral arch anomaly (HPO)", + "cerebral cortex", + "gray matter of forebrain", "abnormal incomplete closing of the arch of centrum of vertebra", - "abnormal size of palpebral fissure", + "neural tube formation", + "primary neural tube formation", + "abnormal development of anatomical entity", + "Neural tube defect (HPO)", + "embryonic structure", + "developing anatomical structure", + "decreased size of the mandible", + "Patent ductus arteriosus (HPO)", + "Abnormality of enteric nervous system morphology (HPO)", + "Abnormal form of the vertebral bodies (HPO)", + "abnormal vertebral column morphology", + "epithelium development", + "morphogenesis of an epithelium", + "epithelial tube morphogenesis", + "embryo development ending in birth or egg hatching", + "shape longitudinal arch of pes", + "embryo development", + "dorsum", + "Abnormal vertebral morphology (HPO)", + "abnormal vertebra morphology", + "anatomical structure development", + "anatomical structure morphogenesis", + "Spina bifida (HPO)", + "bone of hip region", + "Abnormal morphology of the great vessels (HPO)", + "hindlimb stylopod", "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormality of femur morphology", + "upper leg bone", + "abnormal voluntary musculoskeletal movement", + "Abnormality of femur morphology (HPO)", + "femur endochondral element", + "leg bone", "abnormal femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal synovial joint morphology", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "anatomical entity dislocation", - "Joint dislocation", - "Abnormal joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Lower extremity joint dislocation", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Aplasia/hypoplasia involving forearm bones", - "Sloping forehead", + "sensory perception of mechanical stimulus", + "hip", + "neurocranium bone", + "pelvic girdle bone/zone", + "vestibulo-ocular reflex", + "Abnormal hip joint morphology (HPO)", + "Abnormal joint morphology (HPO)", + "articulation", + "abnormal phalanx morphology", + "tetrapod frontal bone", + "limb joint", + "pelvic region element", + "excretory tube", + "hip joint", + "abnormal synovial joint", + "girdle bone/zone", + "abnormal hindlimb joint", + "Abdominal wall defect (HPO)", + "Right ventricular hypertrophy (HPO)", + "zone of bone organ", + "skeletal joint", + "girdle skeleton", + "Abnormality of pelvic girdle bone morphology (HPO)", + "Lower extremity joint dislocation (HPO)", + "Abnormal hip bone morphology (HPO)", + "appendage girdle region", + "neural tube development", + "articular system", "decreased size of the ulna", - "Forearm undergrowth", - "forelimb zeugopod bone hypoplasia", - "decreased size of the anatomical entity in the pectoral complex", + "anatomical entity hypoplasia", + "ulna hypoplasia", "decreased length of anatomical entity in independent continuant", - "Hypoplasia of the ulna", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Aplasia/Hypoplasia affecting the uvea", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", - "abnormal iris morphology", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal penis", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal limb morphology", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal voluntary movement behavior", - "Abnormal forearm bone morphology", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", - "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormal skeletal morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "Ventriculomegaly", - "sloped anatomical entity", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", - "abnormal bone of pectoral complex morphology", - "abnormal embryo morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal vascular system morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", - "Neurodevelopmental abnormality", - "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", - "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", - "abnormal central nervous system morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", + "decreased length of forelimb zeugopod bone", + "aplasia or hypoplasia of ulna", + "Aplasia/Hypoplasia of the ulna (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "Forearm undergrowth (HPO)", + "decreased size of the anatomical entity", + "abnormal myocardium morphology", + "Short long bone (HPO)", + "decreased length of long bone", + "bone element hypoplasia in independent continuant", + "Short forearm (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "musculoskeletal movement", + "digit 1 or 5", + "aorta", + "manual digit 5", + "manual digit 1 or 5", + "Abnormality of metabolism/homeostasis (HPO)", + "tube closure", + "digit 5 plus metapodial segment", + "Abnormal 5th finger morphology (HPO)", + "abnormal manual digit 5 morphology", + "Decreased bone element mass density", + "cardiac atrium", + "Reduced bone mineral density (HPO)", + "Abnormality of the abdominal wall (HPO)", + "ossification", + "Abnormality of bone mineral density (HPO)", + "Decreased anatomical entity mass density", + "Finger syndactyly (HPO)", + "abnormal anatomical entity morphology in the manus", + "abnormally fused digit and anatomical entity", + "abnormally fused manual digit and manual digit", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Aplasia/hypoplasia of the extremities (HPO)", + "Abnormality of the hand (HPO)", "abnormal manus", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormal cerebrospinal fluid morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", - "abnormal location of anatomical entity", - "abnormal anatomical entity", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "shape cornea", - "abnormal artery morphology", - "Abnormal forearm morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Abnormality of limb bone morphology", - "Abnormality of limbs", + "tissue morphogenesis", + "abnormal manus morphology", + "manus", + "segment of manus", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Abnormality of finger (HPO)", + "peripheral nervous system", + "paralysed cranial nerve", + "abnormal biological_process", + "Cranial nerve paralysis (HPO)", + "Abnormal myeloid cell morphology (HPO)", + "abnormal vasculature", + "nerve of head region", + "Abnormal bone structure (HPO)", + "abnormality of internal male genitalia physiology", "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "Microphthalmia", - "abnormal external ear morphology", - "abnormal vein morphology", - "Decreased body weight", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "Abnormal small intestine morphology", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", - "abnormal cornea, asymmetrically curved", - "curvature anatomical entity", - "abnormal pes morphology", - "increased height of the anatomical entity", - "Limb undergrowth", + "multi cell part structure", + "abnormal respiratory system", + "oral cavity", + "Abnormality of the peripheral nervous system (HPO)", + "paralysed anatomical entity", + "lobe of cerebral hemisphere", + "Abnormal cranial nerve physiology (HPO)", + "cranial neuron projection bundle", + "abnormal aortic valve morphology", + "abnormality of cranial nerve physiology", + "increased qualitatively biological_process in independent continuant", + "Multiple cafe-au-lait spots (HPO)", + "increased pigmentation in independent continuant", + "pigmentation", + "manual digitopodium bone", + "increased biological_process in independent continuant", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "Abnormality of the skin (HPO)", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "increased pigmentation in skin of body", + "epithelial tube formation", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Localized skin lesion (HPO)", + "pelvic girdle skeleton", + "Abnormal peripheral nervous system morphology (HPO)", + "decreased length of anatomical entity", + "Abnormal uvea morphology (HPO)", + "abnormal kidney morphology", + "anterior uvea", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "abnormal internal female genitalia morphology", + "Aplasia/Hypoplasia affecting the anterior segment of the eye (HPO)", + "abnormal anterior segment of eyeball morphology", + "thoracic segment of trunk", + "abnormally formed anatomical entity in independent continuant", + "Abnormality of the autonomic nervous system (HPO)", + "abnormally formed anatomical entity", + "abnormal soft palate", + "abnormally fused anatomical entity and anatomical entity", + "Abnormal cellular immune system morphology (HPO)", + "aplasia or hypoplasia of palatine uvula", + "soft palate", + "roof of mouth", + "abnormal response to stimulus", + "morphological feature", + "abnormal location of anatomical entity", + "abnormal oral cavity morphology", + "Abnormal hand morphology (HPO)", + "trachea", + "mouth", + "Abnormal heart valve morphology (HPO)", + "midface", + "Aplasia/Hypoplasia of the uvula (HPO)", + "systemic arterial system", + "anatomical projection", + "abnormal size of multicellular organism", + "abnormal mouth morphology", + "Abnormal conjugate eye movement (HPO)", + "abnormal midface", + "haemolymphatic fluid", + "Decreased fertility in males (HPO)", + "integument", + "abnormally fused pedal digit and pedal digit", + "Decreased fertility (HPO)", + "hindlimb joint", + "abnormal late embryo", + "cavitated compound organ", "abnormal upper urinary tract", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", - "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", + "root", + "malformed anatomical entity", + "septum", + "autopodial skeleton", + "pelvic girdle region", + "individual digit of digitopodial skeleton", + "Abnormal renal physiology (HPO)", + "abnormal bone of pelvic complex morphology", + "abnormal pedal digit", + "longitudinal arch of pes", + "pedal digitopodium region", + "leukocyte", + "clavate anatomical entity", + "Abnormality of ganglion (HPO)", + "abnormal skin of body", + "concave 3-D shape anatomical entity", + "decreased size of the anatomical entity in the pectoral complex", + "leg", + "facial bone", + "abnormal digit", + "sensory system", + "pedal digit bone", + "ventricular system of central nervous system", + "acropodium region", + "anatomical system", + "pedal digitopodium bone", + "abnormal kidney", + "acropodial skeleton", + "trunk blood vessel", + "bone of pelvic complex", + "Hypoplasia of the ulna (HPO)", + "blood", + "Clubbing of toes (HPO)", + "Abnormality of peripheral nerves (HPO)", + "primary subdivision of skull", + "pedal digit phalanx endochondral element", + "ganglion", + "abnormal pigmentation in independent continuant", + "abnormal anterior chamber of eyeball morphology", + "abnormal mouth", + "autopod endochondral element", + "autopod bone", + "hindlimb skeleton", + "shape anatomical entity", + "Clubbing (HPO)", + "prominent anatomical entity", + "Abnormal lower limb bone morphology (HPO)", + "Abnormality of the midface (HPO)", + "hindlimb long bone", + "abnormal integument", + "Abnormality of the genital system (HPO)", + "Abnormal digit morphology (HPO)", + "Abnormality of the lower limb (HPO)", "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "Morphological abnormality of the gastrointestinal tract", - "abnormal reproductive system morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", + "Abnormal size of the palpebral fissures (HPO)", + "digit plus metapodial segment", + "tube formation", + "Abnormality of toe (HPO)", + "abnormal intestine morphology", + "Abnormality of the urinary system physiology (HPO)", + "Small intestinal stenosis (HPO)", + "Aplasia/Hypoplasia of facial bones (HPO)", + "Abnormality of limbs (HPO)", + "Duodenal stenosis (HPO)", + "Hydrocephalus (HPO)", + "internal genitalia", + "pes bone", + "abnormal multicellular organism morphology", + "duodenum", + "small intestine", + "Absent testis (HPO)", + "constricted duodenum", + "delayed growth", + "abnormal spinal cord", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", + "increased anatomical entity length in independent continuant", + "abnormal location of eyeball of camera-type eye", + "immaterial entity", + "Renal hypoplasia/aplasia (HPO)", + "nerve", + "abnormal duodenum morphology", + "non-material anatomical boundary", + "abnormal visual perception", + "increased length of the anatomical line between pupils", + "chamber of eyeball", + "male germ cell", + "anatomical line", + "future nervous system", + "aplasia or hypoplasia of uvea", + "hypothalamus-pituitary axis", + "Abnormality of the female genitalia (HPO)", + "abnormal hypothalamus-pituitary axis", + "synovial joint of pelvic girdle", + "pes", + "abnormal sensory perception of sound", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "nervous system process", + "exocrine system", + "circulatory organ", "abnormality of male reproductive system physiology", - "abnormal gamete generation", - "abnormality of camera-type eye physiology", + "glandular system", + "kinesthetic behavior", + "flattened anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "Finger clinodactyly (HPO)", + "blood vessel", + "hepatobiliary system", + "anatomical space", + "intestine", + "Abnormality of the endocrine system (HPO)", + "manual digit bone", + "limb long bone", + "abnormal prepuce of penis morphology", + "abnormal endocrine system", + "sloped anatomical entity", + "Abnormal anterior chamber morphology (HPO)", + "liver", + "amniotic fluid", + "increased size of the anatomical entity", + "Irregular hyperpigmentation (HPO)", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "abnormal size of brain ventricle", + "synovial joint", + "Myelodysplasia (HPO)", + "ileum", + "Aplasia/Hypoplasia of the testes (HPO)", + "abnormal peripheral nervous system", + "Abnormal eyelid morphology (HPO)", + "Neoplasm (HPO)", + "Hematological neoplasm (HPO)", + "hemolymphoid system", + "regional part of brain", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal cardial valve morphology", + "nucleate cell", + "skeleton of pes", + "stylopod", + "organ part", + "immune system", + "abnormal umbilicus morphology", + "Abnormal leukocyte morphology (HPO)", + "Abnormality of the eye (HPO)", + "hematopoietic cell", + "increased pigmentation", + "abnormal hematopoietic system", + "Abnormality of the forehead (HPO)", + "trunk bone", + "Leukopenia (HPO)", + "Decreased body weight (HPO)", + "abnormal immune system", + "erythroid lineage cell", + "Hernia (HPO)", + "pulmonary valve", + "flat bone", + "hematopoietic system", + "Abnormal neural tube morphology (HPO)", + "Abnormal duodenum morphology (HPO)", + "Macule (HPO)", + "abnormal forebrain morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormal soft palate morphology (HPO)", + "erythrocyte", + "telencephalon", + "Abnormality of prenatal development or birth (HPO)", + "embryonic tissue", + "Opisthokonta", + "abnormal telencephalon morphology", + "segment of autopod", + "Eumetazoa", + "abnormal size of skull", + "Clinodactyly (HPO)", + "abnormal pes morphology", + "organism", + "trunk", + "Abnormality of the ulna (HPO)", + "pedal digit", + "abnormal size of anatomical entity", + "Microcephaly (HPO)", + "frontal lobe", + "ventricle of nervous system", + "pedal digit plus metapodial segment", + "abnormal biological_process in independent continuant", + "metabolic process", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "abnormal pigmentation", + "lower respiratory tract", + "Abnormality of forebrain morphology (HPO)", + "shape cornea", + "transudate", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "manual digit 1 digitopodial skeleton", + "abnormal vertebral column", + "vertebral column", + "Scoliosis (HPO)", + "Abnormality of the curvature of the vertebral column (HPO)", + "Abnormal ventriculoarterial connection (HPO)", + "Abnormal shape of the palpebral fissure (HPO)", + "tissue development", + "shape palpebral fissure", + "layer of muscle tissue", + "head bone", + "urethral meatus", + "Nystagmus (HPO)", + "Deviation of the hand or of fingers of the hand (HPO)", + "Abnormality of the urinary system (HPO)", + "renal system", + "lower urinary tract", + "abnormal respiratory system morphology", + "glans penis", + "eyelid", + "autopodial extension", + "male urethra", + "camera-type eye", + "urethral opening", + "Displacement of the urethral meatus (HPO)", + "Renal insufficiency (HPO)", + "abnormal testis morphology", + "male urethral meatus", + "abnormal sensory perception", + "abnormal cardial valve morphology in the heart", + "abnormal urethra", + "Abnormal immune system morphology (HPO)", + "Abnormality of the lower urinary tract (HPO)", + "abnormal renal system", + "phalanx of pes", + "eye movement", + "Abnormality of the nose (HPO)", + "abnormal asymmetry of face", + "Abnormal palate morphology (HPO)", + "internal naris atresia", + "non-connected functional system", + "internal naris", + "abnormal physiologic nystagmus", + "skeleton of pelvic complex", + "respiratory airway", + "kidney", + "chemosensory system", + "abnormal lower urinary tract", + "posterior nasal aperture atresia", + "Abnormal foot morphology (HPO)", + "regional part of nervous system", + "orifice of skull", + "olfactory organ", + "naris", + "abnormal skull morphology", + "abnormal ureter", + "abnormal palpebral fissure", + "gland", + "abnormal cardiac atrium morphology in the heart", + "abnormal postcranial axial skeleton morphology", + "axial skeleton plus cranial skeleton", + "axial skeletal system", + "abnormal posterior nasal aperture morphology", + "Abnormal bone ossification (HPO)", + "Abnormality of the urethra (HPO)", + "nose", + "increased qualitatively response to stimulus", + "endocrine system", + "skull", + "Abnormality of the choanae (HPO)", + "Abnormal platelet count (HPO)", + "drooping eyelid", + "drooping anatomical entity", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Meckel diverticulum (HPO)", + "pelvic region of trunk", + "Abnormality of the mouth (HPO)", + "Ptosis (HPO)", + "abnormal secondary palate morphology", + "abnormal lens of camera-type eye", + "hindlimb", + "Decreased multicellular organism mass", + "decreased anatomical entity mass", + "growth", + "abnormal digestive system", + "Abnormal male urethral meatus morphology (HPO)", + "Abnormality of digestive system morphology (HPO)", + "Weight loss (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "abnormally fused anatomical entity and digit", + "posterior nasal aperture", + "abnormal external genitalia", + "Growth abnormality (HPO)", + "eukaryotic cell", + "abnormality of multicellular organism mass", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "Astigmatism (HPO)", + "abdomen", + "anus atresia", + "abnormality of kidney physiology", + "enteric nervous system", + "anatomical entity atresia", + "abnormal anus", + "Abnormality of the anus (HPO)", + "Anorectal anomaly (HPO)", + "abnormal interventricular septum morphology", + "abnormal anatomical entity morphology in the heart", + "prepuce", + "Anal atresia (HPO)", + "abnormal anus morphology", + "Abnormality iris morphology (HPO)", + "Abnormal systemic arterial morphology (HPO)", + "abnormal shape of continuant", + "abnormal systemic arterial system morphology", "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "Abnormal cardiac atrium morphology", - "Intellectual disability", - "Abnormal penis morphology", - "Abnormal tracheobronchial morphology", - "hypertrophic multicellular anatomical structure", - "abnormal kidney", - "abnormal reproductive system", - "abnormal internal genitalia", - "abnormal male reproductive organ morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "decreased developmental process", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Recurrent infections", - "asymmetrically curved cornea", - "Abnormal vascular morphology", + "decreased size of the eyeball of camera-type eye", + "Abnormal skull morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "common carotid artery plus branches", + "abnormal bony vertebral centrum morphology", + "skeletal element", + "increased reflex", + "forelimb", + "zeugopod", + "limb endochondral element", + "abnormal nerve", + "musculoskeletal system", + "abnormal limb", "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "decreased length of long bone", - "curved anatomical entity", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", - "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "Slanting of the palpebral fissure", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", + "cranial bone", + "Abnormality of the amniotic fluid (HPO)", + "Umbilical hernia (HPO)", + "abnormal cardiac ventricle morphology", + "glans", + "paired limb/fin skeleton", + "abnormal long bone morphology", + "Hypertelorism (HPO)", + "Abnormal forearm bone morphology (HPO)", + "heart vasculature", + "arm", + "abnormally fused manual digit and anatomical entity", + "endochondral bone", + "skeleton of lower jaw", + "bone of appendage girdle complex", + "digit 1", + "upper jaw region", + "Abnormal oral morphology (HPO)", + "forelimb zeugopod skeleton", + "Recurrent infections (HPO)", + "organism subdivision", + "vestibulo-auditory system", + "integumental system", + "abnormal forelimb zeugopod bone morphology", + "response to stimulus", + "brain gray matter", + "forelimb endochondral element", + "secondary palate", + "abnormal manual digit 1 morphology", + "male reproductive system", + "visual system", + "thoracic segment organ", + "limb bone", + "Abnormality of the immune system (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Cognitive impairment (HPO)", + "postcranial axial skeleton", + "hypertrophic cardiac ventricle", + "abnormal internal naris", + "abnormal incomplete closing of the interatrial septum", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "multi-limb segment region", + "High palate (HPO)", + "bodily fluid", + "abnormal anatomical entity morphology in the pectoral complex", + "Morphological central nervous system abnormality (HPO)", + "upper limb segment", + "immune system process", + "tunica fibrosa of eyeball", + "abnormal developmental process", + "bone of pectoral complex", + "abnormal ulna morphology", + "Oligohydramnios (HPO)", + "Abnormal skeletal morphology (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "Abnormal reflex (HPO)", + "Deviation of finger (HPO)", + "appendicular skeleton", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "motile cell", + "Abnormality of limb bone (HPO)", + "pedal digit digitopodial skeleton", + "abnormal anatomical entity", + "paired limb/fin", + "Abnormality of limb bone morphology (HPO)", + "abnormal great vessel of heart morphology", + "abnormal appendicular skeleton morphology", + "increased biological_process", + "arm bone", + "abnormal limb long bone morphology", + "embryonic epithelial tube formation", + "abnormality of camera-type eye physiology", + "cranial nerve", "abnormal incomplete closing of the anatomical entity", + "pectoral appendage", + "nervous system cell part layer", + "skeleton", "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal phenotype by ontology source", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormal developmental process", - "abnormal secondary palate morphology", - "Abnormal cornea morphology", - "Abnormal form of the vertebral bodies", - "entity", - "absent sperm in the independent continuant", + "Abnormality of reproductive system physiology (HPO)", + "abnormal opening of the anatomical entity", + "abnormal limb bone morphology", + "vasculature", + "Abnormal nervous system morphology (HPO)", + "abnormal skeletal system", + "homeostasis of number of cells", + "embryo", + "appendage", + "obsolete cell", + "male reproductive organ", + "Abnormal nervous system physiology (HPO)", + "Abnormality of cardiovascular system morphology (HPO)", + "Cleft palate (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "multi organ part structure", + "Abnormal venous morphology (HPO)", + "Abnormality of the cardiovascular system (HPO)", + "iris", + "Abnormality of the vasculature (HPO)", + "Abnormality of the vertebral column (HPO)", + "umbilicus", + "vascular system", + "cranium", + "abnormal bone of pectoral complex morphology", + "abnormal phalanx of manus morphology", + "arterial system", + "abnormal head bone morphology", + "abnormal leg", + "abnormal nose", + "long bone", + "Abnormal cerebral cortex morphology (HPO)", + "abnormal internal male genitalia", + "vein", + "abnormality of anatomical entity physiology", + "artery", + "increased size of the anatomical entity in independent continuant", + "Recurrent urinary tract infections (HPO)", + "protein-containing material entity", + "dermal skeletal element", + "Abnormality of the ear (HPO)", + "nervous system development", + "biological_process", + "Abnormal connection of the cardiac segments (HPO)", + "sexual reproduction", "abnormal anatomical entity, curved", - "abnormal spatial pattern of anatomical entity", - "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", - "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased biological_process in multicellular organism", + "subdivision of skeleton", + "anatomical cluster", + "viscus", + "arterial blood vessel", + "esophagus", + "digit 5", + "venous blood vessel", + "Hernia of the abdominal wall (HPO)", + "epithelial tube", + "abnormal digestive system morphology", "quality", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", - "Hypertrophic cardiomyopathy", - "absent anatomical entity in the multicellular organism", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "abnormal gamete", - "Abnormality of the outer ear", - "Absent testis", - "abnormal face morphology", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", - "abnormal shape of continuant", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal head", - "abnormal cell", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormal spermatogenesis", - "Clubbing of toes", + "manual digit digitopodial skeleton", + "asymmetrically curved anatomical entity", + "forelimb zeugopod bone", + "penis", + "Abnormal penis morphology (HPO)", + "abnormal head morphology", + "Hypermelanotic macule (HPO)", + "constricted anatomical entity", + "limb", + "Abnormality of brain morphology (HPO)", + "intromittent organ", + "system process", + "Abnormal blood vessel morphology (HPO)", + "organ component layer", + "Intellectual disability (HPO)", + "eye", + "Abnormal eye physiology (HPO)", + "endocrine gland", + "Neurodevelopmental abnormality (HPO)", + "abnormal iris morphology", + "tissue", + "Abnormality of mental function", + "paired limb/fin segment", + "urethra", + "central nervous system", + "abnormal pelvic girdle bone/zone morphology", + "skeleton of limb", + "shape forehead", + "abnormal soft palate morphology", + "morphogenesis of embryonic epithelium", + "palatine uvula", + "nervous system", + "abnormal vestibulo-ocular reflex", + "abnormal small intestine", + "Decreased anatomical entity mass", + "brain ventricle/choroid plexus", + "Abnormal appendicular skeleton morphology (HPO)", + "abnormal trachea morphology", + "upper digestive tract", + "Abnormality of the cerebrospinal fluid (HPO)", + "Abnormal ventricular septum morphology (HPO)", + "system", + "Abnormality of skull size (HPO)", + "cerebrospinal fluid", + "epithelium", + "process", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormality of anatomical entity mass", + "abnormal innominate bone morphology", + "bone element", + "Sloping forehead (HPO)", + "abnormal female reproductive system", + "abnormal nervous system morphology", + "mandible", + "zeugopodial skeleton", + "abnormal anatomical entity mass density", + "decreased developmental process", + "male gamete generation", + "upper urinary tract", + "delayed biological_process", + "skeletal system", + "hindlimb endochondral element", + "Decreased head circumference (HPO)", + "abnormally increased number of brain ventricle in the independent continuant", + "lateral structure", + "manual digit plus metapodial segment", + "abnormal nervous system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Dolichocephaly (HPO)", + "appendage girdle complex", + "Puberty and gonadal disorders (HPO)", + "Abnormal morphology of ulna (HPO)", + "Hydroureter (HPO)", + "innominate bone", "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", - "decreased spermatogenesis", - "abnormal kidney morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal visual perception", + "Abnormal preputium morphology (HPO)", + "decreased multicellular organism mass", + "physiologic nystagmus", + "Abnormality of skin morphology (HPO)", + "Abnormal cerebral ventricle morphology (HPO)", + "Epicanthus (HPO)", + "cardiovascular system", + "abdominal segment bone", + "3-D shape anatomical entity", + "Abnormality of the testis size (HPO)", + "Abnormality of refraction (HPO)", + "brain ventricle", + "disconnected anatomical group", + "ocular surface region", + "gamete", + "changed biological_process rate in independent continuant", + "Abnormality of the small intestine (HPO)", + "eyeball of camera-type eye", + "Abnormality of the curvature of the cornea (HPO)", + "Abnormal cornea morphology (HPO)", + "abnormal shape of cornea", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "skeleton of manus", + "abnormal shape of external ear", + "anterior segment of eyeball", + "bone element hypoplasia in face", + "blood vasculature", + "cornea", + "hindlimb bone", + "oviduct", + "Abnormal eye morphology (HPO)", + "reproductive organ", + "organism substance", + "digitopodium bone", + "forelimb zeugopod bone hypoplasia", + "Growth delay (HPO)", + "curvature anatomical entity in independent continuant", + "abnormal camera-type eye morphology", + "abnormal cornea, curved", + "anatomical structure", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal face", + "Abnormality of the lens (HPO)", + "Abnormal anterior eye segment morphology (HPO)", + "shape digit", + "aplasia or hypoplasia of iris", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal limb bone", + "excretory system", + "abnormal skeletal joint morphology", + "Arteriovenous malformation (HPO)", + "aplasia or hypoplasia of telencephalon", + "abnormal brain morphology", + "abnormal cornea morphology", + "abnormal bone element mass density", + "manual digitopodium region", + "brain", + "digitopodium region", + "increased biological_process in skin of body", + "abnormal cornea, asymmetrically curved", + "Abnormal intestine morphology (HPO)", + "heart left ventricle", + "aplasia or hypoplasia of manual digit", + "tube", + "Abnormality of lower limb joint (HPO)", + "ulna endochondral element", + "Abnormality of the liver (HPO)", + "response to external stimulus", + "Abnormal respiratory system morphology (HPO)", + "abnormal brain ventricle morphology", + "autopod region", + "compound organ", + "clavate digit", + "Deviation of the 5th finger (HPO)", + "anatomical entity", + "pectoral complex", + "ulna", + "trunk region element", + "digestive system element", + "external soft tissue zone", + "gray matter", "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal response to stimulus", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "Abnormal pulmonary valve morphology (HPO)", + "Abnormality of the calvaria (HPO)", + "respiratory tract", + "proximo-distal subdivision of respiratory tract", + "Sideroblastic anemia (HPO)", + "body proper", + "abnormal forelimb zeugopod", + "Abnormality of the digestive system (HPO)", + "hemopoiesis", + "femur", + "Metazoa", + "Neurodevelopmental delay (HPO)", + "multicellular organism reproduction", + "abnormal tracheobronchial tree morphology", + "subdivision of digestive tract", + "subdivision of tube", + "abdominal segment element", + "Abnormal tracheal morphology (HPO)", + "abnormal neural tube closure", + "Upper limb undergrowth (HPO)", + "digestive system", + "abnormal growth", + "Abnormal internal genitalia (HPO)", + "respiratory system", + "immaterial anatomical entity", + "Abnormal reproductive system morphology (HPO)", + "Abnormality of head or neck (HPO)", + "endochondral element", + "respiratory tube", + "abnormal blood vessel morphology", + "Ocular anterior segment dysgenesis (HPO)", + "curvature anatomical entity", + "Tracheoesophageal fistula (HPO)", + "skin of body", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "Abnormality of the phalanges of the toes (HPO)", + "multi-tissue structure", + "abnormal central nervous system morphology", + "Cryptorchidism (HPO)", "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "abnormal digestive system", - "abnormal craniocervical region morphology", - "abnormal cornea morphology", + "material entity", + "abnormal head", + "asymmetrically curved cornea", + "increased qualitatively biological_process", + "Abnormal localization of kidney (HPO)", + "anatomical line between pupils", + "system development", + "ocular adnexa", + "zone of skin", + "abnormal palatine uvula morphology", + "late embryo", + "abnormal external male genitalia", + "digestive tract", + "abnormal phalanx of pes", + "endoderm-derived structure", + "tracheobronchial tree", + "Hyperpigmentation of the skin (HPO)", + "abnormal cardiovascular system", + "Abnormality of the respiratory system (HPO)", + "Syndactyly (HPO)", + "pectoral appendage skeleton", + "male gamete", + "ectoderm-derived structure", + "Abnormal male reproductive system physiology (HPO)", + "Abnormality of thrombocytes (HPO)", + "Abnormal umbilicus morphology (HPO)", + "anatomical wall", + "Abnormal pinna morphology (HPO)", + "skeleton of pedal acropodium", + "abnormal shape of palpebral fissure", + "abnormal external ear morphology", + "abnormal reproductive system morphology", + "Conotruncal defect (HPO)", + "Cataract (HPO)", + "abnormal external ear", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal zone of skin morphology", + "digit 1 digitopodial skeleton", + "postcranial axial skeletal system", + "abnormal ear morphology", + "musculature of body", + "ventricular system of brain", + "reproductive system", + "Abnormal ear morphology (HPO)", + "joint of girdle", + "abnormal uvea morphology", + "Abnormality of globe location (HPO)", + "Abnormality of the gastrointestinal tract (HPO)", + "abnormal male reproductive organ morphology", + "male organism", + "skeleton of pedal digitopodium", + "abnormal reproductive process", + "transparent eye structure", + "lower limb segment", + "abnormal sensory perception of light stimulus", + "exocrine gland", + "abnormal esophagus morphology", + "lens of camera-type eye", + "behavior", + "anatomical conduit", + "Non-obstructive azoospermia (HPO)", + "abnormal incomplete closing of the ductus arteriosus", + "Abnormal spermatogenesis (HPO)", + "Abnormal oral cavity morphology (HPO)", + "abnormal skeletal system morphology", + "Joint dislocation (HPO)", + "internal male genitalia", + "occurrent", + "increased length of the anatomical entity", + "Hypopigmented skin patches (HPO)", + "shape anatomical entity in independent continuant", + "cardiac chamber", + "changed developmental process rate", + "Abnormality of long bone morphology (HPO)", + "abnormal anatomical entity morphology", + "heart", + "Abnormality of the genitourinary system (HPO)", "continuant", + "haploid cell", + "Short stature (HPO)", + "Upslanted palpebral fissure (HPO)", + "abnormal developmental process involved in reproduction", + "decreased biological_process in multicellular organism", + "hypertrophic multicellular anatomical structure", + "spermatogenesis", + "gray matter of telencephalon", + "parasympathetic nervous system", + "vertebra", + "prepuce of penis", + "abnormal liver", "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "absent gamete", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", + "Abnormality of ganglion of peripheral nervous system (HPO)", "abnormality of nervous system physiology", - "Abnormal external genitalia", - "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", + "abnormal enteric ganglion morphology", + "Abnormality of male external genitalia (HPO)", + "abnormality of anatomical entity height", + "abnormal genitourinary system", + "appendicular skeletal system", + "cranial nerve related reflex", + "abnormal anatomical entity morphology in the independent continuant", + "increased height of anatomical entity in independent continuant", + "germ cell", + "abnormality of cardiovascular system physiology", + "multicellular organism development", + "abnormal spermatogenesis", + "shape eyelid", + "craniocervical region", + "abnormal connective tissue", + "aortic valve", + "abnormal eyeball of camera-type eye", + "testis", + "Triphalangeal thumb (HPO)", + "forelimb long bone", + "Limb undergrowth (HPO)", + "cell", + "phenotype by ontology source", + "germ line cell", + "Abnormal heart morphology (HPO)", + "abnormal gamete generation", + "gamete generation", + "abnormal embryonic tissue morphology", + "subdivision of organism along appendicular axis", + "abnormal forelimb zeugopod bone", + "left cardiac chamber", + "abnormal vascular system morphology", + "increased height of the anatomical entity", + "external male genitalia", + "developmental process", + "multicellular organismal process", + "abnormally fused digit and digit", + "external genitalia", + "reproductive structure", "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", + "anatomical structure formation involved in morphogenesis", + "abnormal reproductive system", + "animal cell", + "abnormality of reproductive system physiology", + "gonad", + "phalanx endochondral element", + "Abnormal ear physiology (HPO)", + "limb skeleton subdivision", + "ecto-epithelium", + "Abnormal upper limb bone morphology (HPO)", + "face", + "Pes planus (HPO)", + "abnormal craniocervical region", + "Hip dislocation (HPO)", + "decreased qualitatively biological_process", + "decreased biological_process", + "Choanal atresia (HPO)", + "olfactory system", + "abnormal cerebrospinal fluid", + "simple eye", + "abnormal peripheral nervous system morphology", + "ductus arteriosus", + "abnormal eyelid morphology", + "neuron projection bundle", + "abnormal heart right ventricle morphology", + "Abnormality of forearm bone (HPO)", + "semen", + "Abnormal facial shape (HPO)", "curved anatomical entity in independent continuant", - "bicornuate anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "abnormal vasculature", - "changed developmental process rate", - "abnormal genitourinary system", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "abnormal myocardium morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal male reproductive system physiology", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "Abnormal eye physiology", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", - "abnormal tracheobronchial tree morphology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "increased length of the anatomical line between pupils", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal anus", - "Atypical behavior", + "neural crest-derived structure", + "Abnormality of the abdominal organs (HPO)", + "anterior chamber of eyeball", + "Abnormal right ventricle morphology (HPO)", + "Abnormal leukocyte count (HPO)", "increased size of the brain ventricle", - "Anal atresia", - "abnormal small intestine", - "Abnormality of the anus", - "Weight loss", - "Abnormality of the forehead", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "Abnormal pulmonary valve physiology", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "abnormal growth", - "abnormal cornea, curved", + "Abnormal testis morphology (HPO)", + "multicellular organism", + "Abnormal uvula morphology (HPO)", + "decreased qualitatively pigmentation", + "abnormal ocular adnexa", + "abnormal vein morphology", + "flat anatomical entity", + "Abnormality of the kidney (HPO)", + "Abnormal external genitalia (HPO)", + "Abnormal cerebral morphology (HPO)", + "aplasia or hypoplasia of skeleton", + "Aplasia/Hypoplasia affecting the uvea (HPO)", + "developmental process involved in reproduction", + "heart right ventricle", + "cellular organisms", + "manual digit", + "main body axis", + "Abnormality of the integument (HPO)", + "segment of pes", + "multicellular organismal reproductive process", + "abdomen element", + "Abnormal vascular morphology (HPO)", + "subdivision of trunk", + "external ear", + "reproduction", + "abnormal cardiovascular system morphology", + "erythrocyte homeostasis", + "abnormal arch of centrum of vertebra", + "venous system", + "Abnormal renal morphology (HPO)", + "abnormal hip joint morphology", + "Hypospadias (HPO)", + "Abnormal axial skeleton morphology (HPO)", + "changed biological_process rate", + "material anatomical entity", + "Abnormality of connective tissue (HPO)", + "abnormal number of anatomical enitites of type anatomical entity", + "entity", + "Abnormal cardiovascular system physiology (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "cardiac valve", + "decreased spermatogenesis", + "digit 1 plus metapodial segment", + "abnormal ear", + "Hypogonadism (HPO)", + "sensory perception of light stimulus", + "somatic cell", + "Abnormal erythrocyte morphology (HPO)", + "Abnormal shape of the frontal region (HPO)", + "Abnormal frontal bone morphology (HPO)", + "Abnormality of male internal genitalia (HPO)", + "abnormal internal genitalia", + "anatomical collection", + "cranial skeletal system", + "Azoospermia (HPO)", + "curved anatomical entity", + "zone of organ", + "orifice", + "abnormal orbital region", + "abnormal male reproductive system", + "aplasia or hypoplasia of anatomical entity", + "primary circulatory organ", + "Abnormality of corneal shape (HPO)", + "decreased qualitatively reproductive process", + "native cell", + "uvea", + "increased size of the head", + "Abnormality of the palpebral fissures (HPO)", + "bone of free limb or fin", + "bone of jaw", + "organ", + "Anemia of inadequate production (HPO)", + "manual digit phalanx endochondral element", + "jaw region", + "Abnormality of thumb phalanx (HPO)", + "pelvic appendage skeleton", + "entire sense organ system", + "multicellular organismal-level homeostasis", + "manus bone", + "Abnormality of the male genitalia (HPO)", + "posterior region of body", + "anatomical cavity", + "Abnormal ocular adnexa morphology (HPO)", + "systemic artery", + "abnormal size of head", + "manual digit 5 plus metapodial segment", + "structure with developmental contribution from neural crest", + "skin of face", + "decreased qualitatively developmental process", + "pelvic complex", + "sperm", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "sense organ", + "circulatory system", + "Abnormality of the ocular adnexa (HPO)", + "flat longitudinal arch of pes", + "Abnormality of the face (HPO)", + "genitourinary system", + "multicellular anatomical structure", + "head", + "Ventricular septal defect (HPO)", + "subdivision of head", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "abnormal alimentary part of gastrointestinal system", + "3-D shape anatomical entity in independent continuant", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "abnormally fused pedal digit and anatomical entity", + "autonomic ganglion", + "palpebral fissure", + "ear", + "forelimb bone", + "Hearing abnormality (HPO)", + "cognition", + "abnormal anatomical entity morphology in the skeleton of manus", + "coronary vessel", + "abnormal anatomical entity, asymmetrically curved", + "phalanx", "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormal lens morphology", - "opaque anatomical entity", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "drooping eyelid", - "posterior nasal aperture atresia", - "Choanal atresia", - "Abnormal axial skeleton morphology", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Short long bone", - "abnormal palpebral fissure", - "anus atresia", - "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", - "abnormal posterior nasal aperture morphology", - "Abnormality of the orbital region", - "abnormal nerve", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "Abnormality of the choanae", - "abnormal internal naris", - "decreased pigmentation in independent continuant", - "Hypospadias", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "abnormal renal system", - "abnormal urethra", - "Displacement of the urethral meatus", - "Morphological central nervous system abnormality", - "abnormal anus morphology", - "Abnormality of the urinary system", - "Abnormality of the lower urinary tract", - "Abnormal shape of the palpebral fissure", - "abnormal shape of palpebral fissure", - "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormality of the vertebral column", - "Macule", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", - "Scoliosis", - "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "Abnormal forebrain morphology", - "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Leukopenia", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "Abnormal uterus morphology", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "abnormally decreased number of cell in the independent continuant", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal immune system", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", + "digestive system gland", + "Abnormality of the synovia (HPO)", + "Neoplasm by anatomical site (HPO)", + "abnormal penis", + "Cardiomyopathy (HPO)", + "thoracic cavity element", + "abnormal hard palate morphology", + "abnormal phenotype by ontology source", + "Abnormal cellular phenotype (HPO)", + "alimentary part of gastrointestinal system", + "abnormal amniotic fluid", + "phenotype", + "subdivision of organism along main body axis", + "radius endochondral element", + "abnormal respiratory tube morphology", + "reproductive process", + "cell development", + "All (HPO)", "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormally decreased number of hematopoietic cell", - "abnormal hematopoietic system", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Myelodysplasia", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Frontal bossing", - "abnormal size of brain ventricle", - "delayed biological_process", - "sloped forehead", - "Short forearm", - "abnormal biological_process", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", - "abnormal liver", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", - "hypertrophic cardiac ventricle", - "increased anatomical entity length in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", - "Hypertelorism", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Oligohydramnios", - "abnormal soft palate morphology", - "Abnormal duodenum morphology", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "Duodenal stenosis", - "abnormal intestine morphology", - "Abnormality of the lower limb", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal digit", - "3-D shape anatomical entity", - "abnormal pedal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", + "Abnormality of the outer ear (HPO)", + "anterior region of body", + "vessel", + "Ventriculomegaly (HPO)", "Phenotypic abnormality", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Almond-shaped palpebral fissure", - "shape digit", - "Clubbing", - "abnormal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "Abnormal midface morphology", - "abnormal male reproductive system", - "abnormal mouth morphology", - "abnormal oral cavity morphology", - "Hernia of the abdominal wall", - "Abnormal palate morphology", - "abnormal midface morphology", - "Abnormal soft palate morphology", - "clavate anatomical entity", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "abnormal integument", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "abnormal cardiac valve morphology in the heart", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "paralysed cranial nerve", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormal peripheral nervous system morphology", - "Cranial nerve paralysis", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Aplasia/Hypoplasia of fingers", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", - "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the eye", - "Finger clinodactyly", - "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "Abnormality of the skeletal system", - "Deviation of finger", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the ulna" + "abnormal ulna", + "orbital region", + "Abnormality of the upper urinary tract (HPO)" ], "has_phenotype_count": 106, "highlight": null, @@ -5459,7 +8460,6 @@ "HP:0000582", "HP:0000470", "HP:0000483", - "HP:0000377", "HP:0000238", "HP:0100615", "HP:0010469", @@ -5480,7 +8480,6 @@ "HP:0002861", "HP:0000252", "HP:0000252", - "HP:0008053", "HP:0000952", "HP:0000957", "HP:0040071", @@ -5496,14 +8495,14 @@ "HP:0000316", "HP:0000316", "HP:0002910", - "HP:0001510", "HP:0002863", + "HP:0001562", "HP:0000864", "HP:0002254", "HP:0002119", "HP:0000027", "HP:0001392", - "HP:0001562", + "HP:0001510", "HP:0001873", "HP:0001871", "HP:0000568", @@ -5548,6 +8547,7 @@ "HP:0000268", "HP:0000286", "HP:0000286", + "HP:0008053", "HP:0003221", "HP:0003220", "HP:0010293", @@ -5605,2444 +8605,3699 @@ "HP:0006101", "HP:0001263", "HP:0002414", + "HP:0008572", "HP:0001199", "HP:0001172" ], "has_phenotype_label": [ - "Upslanted palpebral fissure", - "Short neck", - "Astigmatism", - "Abnormal pinna morphology", - "Hydrocephalus", - "Ovarian neoplasm", - "Absent testis", - "Nausea and vomiting", - "Tracheoesophageal fistula", - "Intellectual disability", - "Leukopenia", - "Ptosis", - "Weight loss", - "Weight loss", - "Cataract", - "Primary peritoneal carcinoma", - "Choanal atresia", - "Chronic fatigue", - "Abnormal carotid artery morphology", - "Almond-shaped palpebral fissure", - "Melanoma", - "Melanoma", - "Microcephaly", - "Microcephaly", - "Aplasia/Hypoplasia of the iris", - "Jaundice", - "Cafe-au-lait spot", - "Abnormal morphology of ulna", - "Arteriovenous malformation", - "Poor appetite", - "Abnormal nervous system morphology", - "Abnormal preputium morphology", - "Anal atresia", - "Hepatosplenomegaly", - "Scoliosis", - "Nephroblastoma", - "Hypospadias", - "Hypertelorism", - "Hypertelorism", - "Elevated hepatic transaminase", - "Growth delay", - "Myelodysplasia", - "Abnormality of the hypothalamus-pituitary axis", - "Intermittent diarrhea", - "Ventriculomegaly", - "Azoospermia", - "Abnormality of the liver", - "Oligohydramnios", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Microphthalmia", - "Abnormality of vision", - "Visual impairment", - "Proptosis", - "Pancreatic adenocarcinoma", - "Abnormal foot morphology", - "Pes planus", - "Toe syndactyly", - "Abnormal eyelid morphology", - "Abnormality of the eye", - "Strabismus", - "Exocrine pancreatic insufficiency", - "Atrial septal defect", - "Tetralogy of Fallot", - "Hypertrophic cardiomyopathy", - "Ventricular septal defect", - "Facial asymmetry", - "Patent ductus arteriosus", - "Abnormal aortic valve morphology", - "Micrognathia", - "Abnormal aortic morphology", - "Sloping forehead", - "Abnormal cardiac septum morphology", - "Extrahepatic cholestasis", - "Hearing abnormality", - "Hearing impairment", - "Functional intestinal obstruction", - "Abnormal fallopian tube morphology", - "Aplasia/Hypoplasia of the radius", - "Intrauterine growth retardation", - "Umbilical hernia", - "Medulloblastoma", - "Neoplasm of the pancreas", - "High palate", - "Abnormal renal morphology", - "Neoplasm of the liver", - "Abnormality of femur morphology", - "Hip dislocation", - "Abnormality of the upper limb", - "Dolichocephaly", - "Epicanthus", - "Epicanthus", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of chromosome stability", - "Aplasia/Hypoplasia of the uvula", - "Bicornuate uterus", - "Diabetes mellitus", - "Short palpebral fissure", - "Reduced bone mineral density", - "Hypoplasia of the ulna", - "Neuroblastoma", - "Intestinal pseudo-obstruction", - "Colon cancer", - "Breast carcinoma", - "Breast carcinoma", - "Short stature", - "Aplastic anemia", - "Anemia", - "Nystagmus", - "Cranial nerve paralysis", - "Pyridoxine-responsive sideroblastic anemia", - "Clinodactyly of the 5th finger", - "Short thumb", - "Abnormality of skin pigmentation", - "Hypopigmented skin patches", - "Clubbing of toes", - "Aganglionic megacolon", - "Meckel diverticulum", - "Back pain", - "Peritoneal abscess", - "Anorexia", - "Abnormal localization of kidney", - "Frontal bossing", - "Abdominal pain", - "Lymphadenopathy", - "Abnormality of the uterus", - "Aplasia/Hypoplasia of fingers", - "Hypogonadism", - "Prostate cancer", - "Cleft palate", - "Autosomal recessive inheritance", - "Recurrent urinary tract infections", - "Neoplasm", - "Postnatal growth retardation", - "Multiple cafe-au-lait spots", - "Cryptorchidism", - "Abnormal testis morphology", - "Hyperreflexia", - "Ovarian carcinoma", - "Decreased fertility in males", - "Hydroureter", - "Abnormality of the urinary system", - "Renal insufficiency", - "Renal hypoplasia/aplasia", - "Duodenal stenosis", - "Irregular hyperpigmentation", - "Finger syndactyly", - "Global developmental delay", - "Spina bifida", - "Triphalangeal thumb", - "Abnormal thumb morphology" + "Upslanted palpebral fissure (HPO)", + "Short neck (HPO)", + "Astigmatism (HPO)", + "Hydrocephalus (HPO)", + "Ovarian neoplasm (HPO)", + "Absent testis (HPO)", + "Nausea and vomiting (HPO)", + "Tracheoesophageal fistula (HPO)", + "Intellectual disability (HPO)", + "Leukopenia (HPO)", + "Ptosis (HPO)", + "Weight loss (HPO)", + "Weight loss (HPO)", + "Cataract (HPO)", + "Primary peritoneal carcinoma (HPO)", + "Choanal atresia (HPO)", + "Chronic fatigue (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Melanoma (HPO)", + "Melanoma (HPO)", + "Microcephaly (HPO)", + "Microcephaly (HPO)", + "Jaundice (HPO)", + "Cafe-au-lait spot (HPO)", + "Abnormal morphology of ulna (HPO)", + "Arteriovenous malformation (HPO)", + "Poor appetite (HPO)", + "Abnormal nervous system morphology (HPO)", + "Abnormal preputium morphology (HPO)", + "Anal atresia (HPO)", + "Hepatosplenomegaly (HPO)", + "Scoliosis (HPO)", + "Nephroblastoma (HPO)", + "Hypospadias (HPO)", + "Hypertelorism (HPO)", + "Hypertelorism (HPO)", + "Elevated hepatic transaminase (HPO)", + "Myelodysplasia (HPO)", + "Oligohydramnios (HPO)", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Intermittent diarrhea (HPO)", + "Ventriculomegaly (HPO)", + "Azoospermia (HPO)", + "Abnormality of the liver (HPO)", + "Growth delay (HPO)", + "Thrombocytopenia (HPO)", + "Abnormality of blood and blood-forming tissues (HPO)", + "Microphthalmia (HPO)", + "Abnormality of vision (HPO)", + "Visual impairment (HPO)", + "Proptosis (HPO)", + "Pancreatic adenocarcinoma (HPO)", + "Abnormal foot morphology (HPO)", + "Pes planus (HPO)", + "Toe syndactyly (HPO)", + "Abnormal eyelid morphology (HPO)", + "Abnormality of the eye (HPO)", + "Strabismus (HPO)", + "Exocrine pancreatic insufficiency (HPO)", + "Atrial septal defect (HPO)", + "Tetralogy of Fallot (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "Ventricular septal defect (HPO)", + "Facial asymmetry (HPO)", + "Patent ductus arteriosus (HPO)", + "Abnormal aortic valve morphology (HPO)", + "Micrognathia (HPO)", + "Abnormal aortic morphology (HPO)", + "Sloping forehead (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "Extrahepatic cholestasis (HPO)", + "Hearing abnormality (HPO)", + "Hearing impairment (HPO)", + "Functional intestinal obstruction (HPO)", + "Abnormal fallopian tube morphology (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Intrauterine growth retardation (HPO)", + "Umbilical hernia (HPO)", + "Medulloblastoma (HPO)", + "Neoplasm of the pancreas (HPO)", + "High palate (HPO)", + "Abnormal renal morphology (HPO)", + "Neoplasm of the liver (HPO)", + "Abnormality of femur morphology (HPO)", + "Hip dislocation (HPO)", + "Abnormality of the upper limb (HPO)", + "Dolichocephaly (HPO)", + "Epicanthus (HPO)", + "Epicanthus (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Abnormality of chromosome stability (HPO)", + "Aplasia/Hypoplasia of the uvula (HPO)", + "Bicornuate uterus (HPO)", + "Diabetes mellitus (HPO)", + "Short palpebral fissure (HPO)", + "Reduced bone mineral density (HPO)", + "Hypoplasia of the ulna (HPO)", + "Neuroblastoma (HPO)", + "Intestinal pseudo-obstruction (HPO)", + "Colon cancer (HPO)", + "Breast carcinoma (HPO)", + "Breast carcinoma (HPO)", + "Short stature (HPO)", + "Aplastic anemia (HPO)", + "Anemia (HPO)", + "Nystagmus (HPO)", + "Cranial nerve paralysis (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "Short thumb (HPO)", + "Abnormality of skin pigmentation (HPO)", + "Hypopigmented skin patches (HPO)", + "Clubbing of toes (HPO)", + "Aganglionic megacolon (HPO)", + "Meckel diverticulum (HPO)", + "Back pain (HPO)", + "Peritoneal abscess (HPO)", + "Anorexia (HPO)", + "Abnormal localization of kidney (HPO)", + "Frontal bossing (HPO)", + "Abdominal pain (HPO)", + "Lymphadenopathy (HPO)", + "Abnormality of the uterus (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Hypogonadism (HPO)", + "Prostate cancer (HPO)", + "Cleft palate (HPO)", + "Autosomal recessive inheritance (HPO)", + "Recurrent urinary tract infections (HPO)", + "Neoplasm (HPO)", + "Postnatal growth retardation (HPO)", + "Multiple cafe-au-lait spots (HPO)", + "Cryptorchidism (HPO)", + "Abnormal testis morphology (HPO)", + "Hyperreflexia (HPO)", + "Ovarian carcinoma (HPO)", + "Decreased fertility in males (HPO)", + "Hydroureter (HPO)", + "Abnormality of the urinary system (HPO)", + "Renal insufficiency (HPO)", + "Renal hypoplasia/aplasia (HPO)", + "Duodenal stenosis (HPO)", + "Irregular hyperpigmentation (HPO)", + "Finger syndactyly (HPO)", + "Global developmental delay (HPO)", + "Spina bifida (HPO)", + "External ear malformation (HPO)", + "Triphalangeal thumb (HPO)", + "Abnormal thumb morphology (HPO)" ], "has_phenotype_closure": [ - "HP:0005918", + "UBERON:0012358", + "HP:0001199", + "UBERON:0001436", + "UBERON:0005897", "UPHENO:0021800", - "UPHENO:0087858", - "HP:0410043", - "UPHENO:0088123", - "UPHENO:0051003", - "UPHENO:0087665", - "HP:0002414", - "HP:0045005", - "UPHENO:0051077", - "HP:0002143", + "UBERON:0004249", + "UBERON:0015024", + "UBERON:5101463", + "UPHENO:0084447", + "UBERON:5106048", + "UBERON:5102389", + "UPHENO:0071324", + "HP:0000377", + "HP:0008572", + "UBERON:0001691", + "UBERON:0002240", + "UBERON:0002050", + "GO:0048646", + "GO:0009653", + "HP:0003312", "UPHENO:0076744", - "UPHENO:0076707", + "GO:0014020", + "GO:0001841", + "UBERON:0001049", + "UBERON:0005291", "HP:0010301", + "HP:0045005", + "UPHENO:0051003", + "UPHENO:0051077", + "UPHENO:0076695", + "UBERON:0010358", + "GO:0060606", + "GO:0072175", + "GO:0007399", + "GO:0016331", + "GO:0002009", + "GO:0009792", + "HP:0008438", + "UBERON:0003914", "HP:0003468", + "GO:0001838", + "GO:0043009", + "UBERON:0000483", + "HP:0410043", + "HP:0002143", + "GO:0048731", + "GO:0035239", + "UBERON:0001075", + "UBERON:0016879", "HP:0012758", - "UPHENO:0078288", "HP:0006101", - "UPHENO:0078215", - "UPHENO:0078267", "HP:0002246", - "HP:0100867", + "UBERON:0002114", + "UPHENO:0081868", "HP:0008678", - "HP:0000083", - "UPHENO:0002411", "HP:0012211", - "UPHENO:0086132", + "HP:0000083", + "UBERON:0036295", "HP:0025633", - "UPHENO:0002806", - "HP:0000144", + "UBERON:0006555", + "UPHENO:0021780", + "HP:0000069", + "UBERON:0000056", + 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"HP:0004209", - "HP:0003002", - "HP:0011354", - "UPHENO:0077885", - "UPHENO:0054299", - "UPHENO:0054261", - "UPHENO:0003013", - "UPHENO:0087481", - "HP:0001263", - "UPHENO:0005982", - "UPHENO:0002931", - "UPHENO:0081424", - "UPHENO:0080351", - "HP:0001915", - "HP:0012145", - "UPHENO:0088162", - "UPHENO:0003074", - "HP:0001877", - "UPHENO:0079837", - "HP:0000035", - "HP:0001751", - "HP:0011389", - "HP:0011821", - "HP:0012547", - "UPHENO:0079833", - "HP:0100022", - "UPHENO:0050613", + "UPHENO:0002433", + "HP:0010468", + "HP:0001873", + "UBERON:0000117", + "HP:0000002", + "HP:0000077", + "UPHENO:0076740", + "UBERON:0004771", + "HP:0002585", + "UPHENO:0079828", + "UBERON:0035639", + "CHEBI:33694", + "UBERON:0010230", + "GO:0016043", + "UBERON:0010913", + "GO:0050953", "HP:0031105", - "UPHENO:0078736", - "HP:0007670", - "UPHENO:0002708", - "HP:0006824", - "UPHENO:0053298", - "UPHENO:0081709", - "HP:0009484", - "HP:0001642", - "HP:0006501", - "UPHENO:0005116", - "HP:0031910", - "HP:0045010", - "HP:0005522", - "UPHENO:0084653", - "HP:0005922", - "HP:0000377", - "HP:0004097", - "HP:0001510", - "HP:0001167", - "UPHENO:0085371", - "UPHENO:0076723", - "HP:0009179", - "UPHENO:0076760", - "UPHENO:0084448", - "HP:0011446", - "HP:0030084", - "UPHENO:0084829", - "HP:0012125", - "HP:0000864", - "UPHENO:0086150", - "UPHENO:0080201", - "HP:0001155", - "HP:0010786", - "UPHENO:0076736", - "HP:0009778", - "UPHENO:0080099", - "HP:0011927", - "HP:0008373", + "HP:0000549", + "UBERON:0001434", + "UBERON:0001690", + "UPHENO:0022529", + "HP:0001639", + "HP:0004378", + "UBERON:0005282", + "UPHENO:0076729", + "UBERON:0005281", + "UBERON:0015063", + "UBERON:0004120", + "UBERON:5001463", + "UBERON:0011137", + "UBERON:0010364", + "UPHENO:0050113", + "UBERON:0000964", + "UBERON:0001819", + "UPHENO:0004536", + "UBERON:0002146", + "UPHENO:0081834", + "UBERON:0004535", + "UPHENO:0072194", + "UBERON:0008001", + "UPHENO:0063599", + "UPHENO:0002844", + "UBERON:0000475", + "UBERON:0010709", + "UBERON:0001424", + "UBERON:0001062", + "UBERON:0015061", + "UPHENO:0003098", + "UBERON:0001893", + "UBERON:0001043", + "UBERON:0004111", + "UBERON:0010409", + "UPHENO:0002599", "HP:0005927", + "UBERON:0007375", + "UBERON:0005445", + "UBERON:0001638", + "UBERON:0003978", + "UBERON:0002104", "HP:0011027", - "UPHENO:0046411", - "UPHENO:0085302", - "UPHENO:0080114", - "UPHENO:0076724", - "UPHENO:0077892", - "UPHENO:0087369", - "UPHENO:0002964", - "UPHENO:0088140", - "UPHENO:0087602", - "UPHENO:0087121", - "HP:0002270", - "UPHENO:0087355", - "HP:0410015", - "HP:0001000", - "UPHENO:0021045", - "UPHENO:0002941", - "UPHENO:0084771", - "HP:0000525", - "UPHENO:0088183", - "UPHENO:0005852", - "UPHENO:0087933", - "HP:0003319", + "HP:0100737", + "UPHENO:0081574", + "UPHENO:0079839", + "UPHENO:0002261", + "GO:0060429", + "UBERON:0000467", + "HP:0100543", + "HP:0001667", + "HP:0034684", + "UPHENO:0075696", + "HP:0000520", + "HP:0000582", + "BFO:0000020", + "HP:0001396", + "UBERON:0001981", + "UBERON:0013701", + "HP:0000025", + "UPHENO:0002901", + "UBERON:0004905", + "UBERON:0003697", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0010707", + "UPHENO:0002833", + "UBERON:0001032", + "UBERON:0034921", + "UPHENO:0076692", + "UBERON:0000178", + "HP:0011458", + "CL:0000003", + "UBERON:0001711", "HP:0012331", - "UPHENO:0056072", - "UPHENO:0050121", - "HP:0001549", - "UPHENO:0019477", - "UPHENO:0021038", - "UPHENO:0086612", - "HP:0100587", - "UPHENO:0079835", - "UPHENO:0042834", - "UPHENO:0072195", - "UPHENO:0080595", - "UPHENO:0002219", - "HP:0011218", - "UPHENO:0084465", - "UPHENO:0041041", - "UPHENO:0082905", - "HP:0000952", - "HP:0430000", - "HP:0002027", - "HP:0002733", - "UPHENO:0080221", - "UPHENO:0083530", - "UPHENO:0075161", - "HP:0002716", - "HP:0000022", - "UPHENO:0087645", - "UPHENO:0052778", - "HP:0000202", - "HP:5201015", - "UPHENO:0003098", - "HP:0000175", - "UPHENO:0033635", - "UPHENO:0080362", - "HP:0001511", - "HP:0032101", - "UPHENO:0086100", - "HP:0010978", - "HP:0030063", - "HP:0007565", - "UPHENO:0069293", - "HP:0040019", - "UPHENO:0053580", - "UPHENO:0083263", - "HP:0001347", - "UPHENO:0005994", - "UPHENO:0055092" - ], - "has_phenotype_closure_label": [ - "Abnormal finger phalanx morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "Abnormality of thumb phalanx", - "Triphalangeal thumb", - "Spina bifida", - "Vertebral arch anomaly", - "Abnormal form of the vertebral bodies", - "abnormal arch of centrum of vertebra", - "flat anatomical entity", - "abnormal bone marrow morphology", - "abnormal cerebral cortex morphology", - "Abnormality of the lower limb", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "Abnormality of the ureter", - "abnormal size of eyeball of camera-type eye", - "Abnormal myeloid cell morphology", - "Abnormal abdomen morphology", - "Abnormality of pancreas physiology", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal platelet count", - "abnormal internal male genitalia morphology", - "Oligohydramnios", - "abnormal amniotic fluid", - "abnormal cerebrospinal fluid morphology", - "Abnormal ocular adnexa morphology", - "abnormal size of brain ventricle", - "Exocrine pancreatic insufficiency", - "Frontal bossing", - "Ovarian neoplasm", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal hypothalamus-pituitary axis", - "Reduced bone mineral density", - "Myelodysplasia", - "delayed biological_process", - "Abnormal enzyme concentration or activity", - "abnormal facial skeleton morphology", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "increased anatomical entity length in independent continuant", - "hypertrophic cardiac ventricle", - "Toe syndactyly", - "Abnormality of the lower urinary tract", - "abnormal urethra", - "decreased pigmentation in independent continuant", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Renal neoplasm", - "Abnormal prostate morphology", - "Abnormality of the upper urinary tract", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "Peripheral primitive neuroectodermal neoplasm", - "shape longitudinal arch of pes", - "decreased length of neck", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Embryonal neoplasm", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Scoliosis", - "abnormal cardiac atrium morphology", - "Abnormal curvature of the vertebral column", - "Digestive system neoplasm", - "Abnormality of the integument", - "Epicanthus", - "abnormal hepatobiliary system morphology", - "anatomical entity hypoplasia in face", - "abnormal spleen", - "Abnormal oral cavity morphology", - "abnormal pancreas", - "increased size of the spleen", - "Abnormal endocrine morphology", - "abnormal leg", - "Abnormal liver morphology", - "increased size of the viscus", - "Hepatosplenomegaly", - "abnormal biological_process in independent continuant", - "Abnormality of metabolism/homeostasis", - "Abnormal circulating enzyme concentration or activity", - "abnormal blood cell", - "anus atresia", - "abnormal skull morphology", - "Short long bone", - "increased size of the brain ventricle", - "Neoplasm of the breast", - "abnormal anus", - "Neuroectodermal neoplasm", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormality of the forehead", - "Fatigue", - "abnormality of multicellular organism height", - "abnormal limb morphology", - "Abnormality of the spleen", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Cardiomyopathy", - "Abnormality of limb bone morphology", - "abnormal limb long bone morphology", - "Atypical behavior", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormality of limbs", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal male urethral meatus morphology", - "Abnormal morphology of ulna", - "Aplastic anemia", - "flattened anatomical entity", - "bone element hypoplasia in face", - "abnormal manus", - "Abnormality of globe location", - "Strabismus", - "abnormal prostate gland", - "abnormal embryonic tissue morphology", - "aplasia or hypoplasia of iris", - "abnormal myeloid cell morphology", - "Abnormal spleen morphology", - "abnormal semi-lunar valve morphology", - "increased biological_process", - "abnormal external ear", - "Prostate cancer", - "increased pigmentation in independent continuant", - "increased biological_process in independent continuant", - "abnormally decreased number of anatomical entity in the independent continuant", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "Abnormality of the endocrine system", - "abnormal endocrine system", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Cholestasis", - "abnormal digit", - "Jaundice", - "Neurodevelopmental delay", - "Abnormality of the pancreas", - "abnormal biliary system", - "abnormal liver", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "Abnormality of the head", - "Abnormality of the liver", - "Aplasia/Hypoplasia affecting the uvea", - "Aplasia/Hypoplasia of the iris", - "flat anatomical entity in independent continuant", - "abnormal mandible morphology", - "abnormal size of spleen", - "increased qualitatively biological_process in independent continuant", - "Abnormal ileum morphology", - "Anal atresia", - "abnormally formed anterior chamber of eyeball", - "Ocular anterior segment dysgenesis", - "abnormal skeletal joint morphology", - "Abnormal localization of kidney", - "abnormal penis", - "abnormal duodenum morphology", - "herniated anatomical entity", - "abnormal size of skull", - "abnormal embryo morphology", - "abnormal parasympathetic nervous system morphology", - "Decreased head circumference", - "Hypogonadism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "Abnormal forebrain morphology", - "abnormal forebrain morphology", - "abnormal shape of cornea", - "abnormal anatomical entity morphology in the brain", - "aplasia or hypoplasia of anatomical entity", - "abnormal neocortex morphology", - "decreased biological_process", - "Neoplasm by histology", - "abnormal shape of palpebral fissure", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "shape digit", - "Clubbing", - "Postnatal growth retardation", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "Nausea and vomiting", - "abnormal vasculature", - "abnormal genitourinary system", - "abnormal common carotid artery plus branches morphology", - "Abnormal blood vessel morphology", - "Abnormality of the vasculature", - "Abnormal vascular morphology", - "Abnormality of skull size", - "decreased size of the multicellular organism", - "abnormal vertebral column morphology", - "Abnormality of the inner ear", - "Abnormal systemic arterial morphology", - "abnormal systemic arterial system morphology", - "Nephroblastoma", - "Aplasia/Hypoplasia involving the central nervous system", - "Short neck", - "Mode of inheritance", - "abnormal vascular system morphology", - "Abnormal anus morphology", - "abnormal voluntary musculoskeletal movement", - "abnormally localised anatomical entity in independent continuant", - "abnormal size of liver", - "abnormal anatomical entity mass density", - "Embryonal renal neoplasm", - "Constitutional symptom", - "Absent testis", - "Abnormality of the choanae", - "Abnormal skull morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal olfactory system morphology", - "internal naris atresia", - "abnormal posterior nasal aperture morphology", - "abnormal cellular metabolic process", - "abnormal ureter morphology", - "abnormal nose", - "abnormally decreased number of myeloid cell", - "abnormal incomplete closing of the abdominal wall", - "Urinary tract neoplasm", - "Choanal atresia", - "Hypospadias", - "posterior nasal aperture atresia", - "Hypertelorism", - "abnormal integument", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "Primary peritoneal carcinoma", - "Abnormality of movement", - "Neoplasm of the large intestine", - "Neoplasm of the gastrointestinal tract", - "Cataract", - "opaque anatomical entity", - "abnormal head", - "Pancytopenia", - "abnormal lens of camera-type eye morphology", - "Hydrocephalus", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormal reproductive system", - "abnormal central nervous system morphology", - "Visceromegaly", - "continuant", - "Abnormality of the female genitalia", - "abnormal number of anatomical enitites of type platelet", - "abnormal forelimb zeugopod morphology", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "abnormal nervous system", - "Tracheoesophageal fistula", - "decreased qualitatively biological_process in independent continuant", - "abnormally increased number of anatomical entity", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal internal genitalia", - "abnormal biological_process", - "Elevated hepatic transaminase", - "Abnormality of the male genitalia", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "abnormal enteric nervous system morphology", - "abnormal limb", - "curvature anatomical entity in independent continuant", - "abnormal limb bone morphology", - "abnormal ulna morphology", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "Abnormal male reproductive system physiology", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "abnormal ear morphology", - "drooping eyelid", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "asymmetrically curved cornea", - "Morphological central nervous system abnormality", - "Recurrent infections", - "Hepatomegaly", - "Abnormal cornea morphology", - "abnormal secondary palate morphology", - "abnormal anatomical entity, asymmetrically curved", - "abnormal multicellular organismal reproductive process", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "abnormal liver morphology", - "abnormal organelle organization", - "Hypermelanotic macule", - "Abnormal eye physiology", - "asymmetrically curved anatomical entity", - "abnormal systemic artery morphology", - "abnormal hindlimb joint", - "Abnormal anterior eye segment morphology", - "Displacement of the urethral meatus", - "abnormal face", - "abnormal asymmetry of anatomical entity", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", - "Ventricular septal defect", - "abnormal response to stimulus", - "Abnormal forearm bone morphology", - "abnormal voluntary movement behavior", - "abnormal respiratory tube morphology", - "Neoplasm of the pancreas", - "anatomical entity hyperplasia", - "abnormal cervical vertebra", - "abnormal cornea, curved", - "abnormal leukocyte morphology", - "abnormal renal system", - "abnormally fused anatomical entity and manual digit", - "abnormal ocular adnexa", - "Abnormality of vision", - "increased size of the anatomical entity in independent continuant", - "Non-obstructive azoospermia", - "curved anatomical entity in independent continuant", - "Anemia of inadequate production", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal nervous system morphology", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "Abnormal peripheral nervous system morphology", - "Pulmonic stenosis", - "Upper limb undergrowth", - "Abnormal renal morphology", - "abnormal internal naris", - "abnormal arm", - "Abnormality of limb bone", - "Abnormal eye morphology", - "abnormal connective tissue", - "abnormal autopod region morphology", - "abnormal ear", - "Abnormal aortic valve morphology", - "Abnormality of the orbital region", - "Hyperpigmentation of the skin", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal nerve", - "Abnormal preputium morphology", - "abnormally localised testis", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "Genital neoplasm", - "Abnormal eyelid morphology", - "increased pigmentation in skin of body", - "abnormal aorta morphology", - "abnormal hematopoietic system", - "phenotype by ontology source", - "abnormally decreased number of hematopoietic cell", - "abnormal ocular adnexa morphology", - "abnormal phalanx of manus morphology", - "abnormal visual perception", - "Morphological abnormality of the gastrointestinal tract", - "abnormal chemical homeostasis", - "Abnormality of the cardiovascular system", - "abnormality of gland physiology", - "Abnormal right ventricle morphology", - "Clinodactyly", - "Abnormality of the genitourinary system", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", - "Generalized abnormality of skin", - "decreased biological_process in multicellular organism", - "absent gamete", - "Abnormality of the neck", - "decreased spermatogenesis", - "abnormal artery morphology", - "Abnormality of enteric nervous system morphology", - "Abnormal forearm morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal shape of continuant", - "abnormal bone marrow cell", - "abnormal reproductive process", - "abnormal heart left ventricle morphology", - "Ventriculomegaly", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "Growth abnormality", - "abnormal female reproductive system", - "Abnormal cerebral ventricle morphology", - "shape eyelid", - "clavate digit", - "All", - "Abnormal bone structure", - "abnormal trachea morphology", - "decreased qualitatively biological_process", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "abnormally fused anatomical entity and pedal digit", - "abnormal neck morphology", - "Finger syndactyly", - "abnormal ductus arteriosus morphology", - "Abnormal bone ossification", - "abnormal anatomical entity", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "abnormal manual digit morphology in the manus", - "abnormal ileum morphology", - "Abdominal pain", - "abnormal head morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", - "curved anatomical entity", - "decreased length of long bone", - "Abnormal ear morphology", - "abnormal craniocervical region", - "Weight loss", - "abnormal cell morphology", - "Macule", - "increased size of the abdominal viscera", - "abnormal vertebral column", - "abnormal gland morphology", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "bicornuate anatomical entity", - "abnormal shape of forehead", - "abnormal palpebral fissure", - "abnormal tube formation", - "abnormality of pancreas physiology", - "Abnormal pinna morphology", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", - "abnormal skin of body", - "abnormal upper urinary tract", - "increased height of the anatomical entity", - "Limb undergrowth", - "Finger clinodactyly", - "curvature anatomical entity", - "Decreased anatomical entity mass", - "entity", - "abnormal forelimb zeugopod bone", - "Slanting of the palpebral fissure", - "Abnormality of refraction", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "abnormal camera-type eye morphology", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "abnormal muscle contraction in independent continuant", - "abnormally decreased functionality of the anatomical entity", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal skeletal system morphology", - "Hip dislocation", - "abnormal pigmentation in independent continuant", - "phenotype", - "abnormal male reproductive system morphology", - "Anorexia", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal digestive system morphology", - "Abnormality of the biliary system", - "abnormal size of palpebral fissure", - "abnormal digestive system", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal vestibulo-ocular reflex", - "flattened anatomical entity in independent continuant", - "abnormality of cardiovascular system physiology", - "aplasia or hypoplasia of manual digit 1", - "abnormally decreased number of cell", - "Abnormal mandible morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "Abnormality of digestive system morphology", - "Abnormality of the ocular adnexa", - "Autosomal recessive inheritance", - "Abnormality of the skeletal system", - "Deviation of finger", - "shape cornea", - "Abnormality of the anus", - "abnormal immune system", - "Upslanted palpebral fissure", - "Dermatological manifestations of systemic disorders", - "abnormally decreased number of cell in the independent continuant", - "hypertrophic multicellular anatomical structure", - "decreased length of anatomical entity in independent continuant", - "increased size of the anatomical entity", - "abnormal limb bone", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "Abnormal nervous system morphology", - "Abnormality of the nose", - "abnormal brain ventricle morphology", - "abnormal platelet", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormality of camera-type eye physiology", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "abnormal exocrine gland morphology", - "abnormal ovary", - "Abnormal morphology of female internal genitalia", - "abnormal zone of skin morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", + "HP:0008050", + "UPHENO:0076730", + "UBERON:0015203", + "UBERON:0001016", + "UPHENO:0076703", + "UBERON:0000992", + "UBERON:0004456", + "UPHENO:0075712", + "HP:0000152", + "UPHENO:0020539", + "BFO:0000001", + "BFO:0000040", + "UPHENO:0054957", + "UPHENO:0077885", + "UPHENO:0015280", + "HP:0000819", + "UBERON:0001272", + "UBERON:0006072", + "CL:0000019", + "UBERON:0000064", + "UBERON:0007100", + "UBERON:0001558", + "UBERON:0000465", + "UBERON:0005725", + "UBERON:0005944", + "UPHENO:0041146" + ], + "has_phenotype_closure_label": [ + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "manual digit digitopodial skeleton", + "abnormal phalanx morphology", + "manual digit phalanx endochondral element", + "manual digit 1 digitopodial skeleton", + "Abnormal finger phalanx morphology (HPO)", + "manual digit 1 phalanx endochondral element", + "phalanx of manus", + "manus bone", + "abnormally formed external ear", + "abnormal external ear morphology", + "abnormal external ear", + "External ear malformation (HPO)", + "abnormal shape of external ear", + "neural tube", + "presumptive structure", + "abnormal tube formation", + "neural tube closure", + "embryonic epithelial tube formation", + "spinal cord", + "tube development", + "system development", + "Abnormality of the spinal cord (HPO)", + "bony vertebral centrum", + "future nervous system", + "arch of centrum of vertebra", + "Vertebral arch anomaly (HPO)", "abnormal incomplete closing of the arch of centrum of vertebra", + "neural tube formation", + "primary neural tube formation", + "Neural tube defect (HPO)", + "epithelium", + "abnormal neural tube closure", + "abnormal vertebral column morphology", + "epithelial tube formation", + "nervous system development", + "morphogenesis of embryonic epithelium", + "embryo development ending in birth or egg hatching", + "embryonic tissue", + "Abnormal neural tube morphology (HPO)", + "abnormal vertebra morphology", + "anatomical structure morphogenesis", + "Spina bifida (HPO)", + "abnormal embryonic tissue morphology", + "abnormal bony vertebral centrum morphology", + "Neurodevelopmental delay (HPO)", + "Finger syndactyly (HPO)", + "Small intestinal stenosis (HPO)", + "Duodenal stenosis (HPO)", + "Abnormal duodenum morphology (HPO)", + "abnormal duodenum morphology", + "Renal insufficiency (HPO)", + "abnormality of kidney physiology", + "renal pelvis/ureter", + "Abnormal ureter morphology (HPO)", + "abnormal ureter", + "abnormal ureter morphology", + "ureter", + "Decreased fertility in males (HPO)", + "Decreased fertility (HPO)", + "Ovarian carcinoma (HPO)", + "increased qualitatively response to stimulus", + "Hyperreflexia (HPO)", + "reflex", + "abnormal response to external stimulus", + "abnormally localised anatomical entity", + "Cryptorchidism (HPO)", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "Postnatal growth retardation (HPO)", + "Abnormality of the urinary system physiology (HPO)", + "Unusual infection (HPO)", + "abnormality of renal system physiology", + "abnormality of immune system physiology", + "Autosomal recessive inheritance (HPO)", + "hard palate", + "abnormal incomplete closing of the secondary palate", + "abnormal hard palate morphology", + "Abnormal hard palate morphology (HPO)", + "Orofacial cleft", + "Cleft palate (HPO)", + "abnormal prostate gland", + "prostate gland", + "male reproductive gland", + "Prostate cancer (HPO)", + "Prostate neoplasm (HPO)", + "abnormally decreased functionality of the gonad", + "Puberty and gonadal disorders (HPO)", + "Lymphadenopathy (HPO)", + "abnormal lymph node", + "lymph node", + "lymph node hyperplasia", + "abnormal size of lymph node", + "anatomical entity hyperplasia", + "central nervous system gray matter layer", + "pallium", + "abnormal shape of frontal cortex", + "Abnormal anterior eye segment morphology (HPO)", + "frontal cortex", + "cortex of cerebral lobe", + "cerebral cortex", + "brain", + "gray matter of forebrain", + "Recurrent urinary tract infections (HPO)", + "abnormal frontal cortex morphology", + "abnormal head morphology", + "cerebral hemisphere gray matter", + "abnormal tetrapod frontal bone morphology", "prominent forehead", - "abnormal internal female genitalia morphology", - "abnormal female reproductive system morphology", - "Abnormal renal physiology", - "abnormal postcranial axial skeleton morphology", - "abnormal neck", - "abnormal anatomical entity length", - "abnormal lymphatic part of lymphoid system", - "Abnormality of the palpebral fissures", - "decreased developmental process", - "Neuroblastoma", + "abnormal cerebral cortex morphology", + "cerebral hemisphere", + "Abnormal localization of kidney (HPO)", + "Abnormality of the kidney (HPO)", + "bone of pelvic complex", + "regulation of appetite", + "Abnormality of globe location (HPO)", + "response to extracellular stimulus", + "abnormal peritoneum", + "abnormal developmental process involved in reproduction", + "serous sac", + "peritoneal sac", + "Abnormality of the peritoneum (HPO)", + "abnormal ileum morphology", + "Abnormal ileum morphology (HPO)", + "Abnormal thorax morphology (HPO)", + "ganglion of peripheral nervous system", + "limb segment", + "abnormal ganglion of peripheral nervous system", + "abnormal autonomic nervous system", + "subdivision of organism along appendicular axis", + "Abnormal autonomic nervous system morphology (HPO)", + "abnormal neural tube morphology", + "head", + "outflow tract of ventricle", + "Aganglionic megacolon (HPO)", + "abnormal autonomic nervous system morphology", + "Abnormal forearm bone morphology (HPO)", + "abnormal ganglion", + "acropodial skeleton", + "skeleton of digitopodium", + "posterior region of body", + "decreased multicellular organism mass", + "autopod endochondral element", + "skeleton of pedal acropodium", + "pedal digit digitopodial skeleton", + "shape digit", + "abnormal phalanx of pes", + "phalanx endochondral element", + "glans penis", + "autopod bone", + "phalanx of pes", + "skeleton of pectoral complex", + "multicellular anatomical structure", + "phalanx", + "integumental system", + "decreased biological_process in skin of body", + "decreased pigmentation in skin of body", + "Abnormality of the eye (HPO)", + "neocortex", + "parasympathetic ganglion", + "neck bone", + "decreased pigmentation in independent continuant", + "Azoospermia (HPO)", + "Short digit (HPO)", + "thoracic segment of trunk", + "aplasia or hypoplasia of manual digit 1", + "Scoliosis (HPO)", + "Short finger (HPO)", + "abnormal brain ventricle morphology", + "decreased length of manual digit", + "manual digit 1 plus metapodial segment", + "skeleton of manus", + "Short thumb (HPO)", + "manual digit 1", + "abnormal anatomical entity morphology in the manus", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "decreased length of manual digit 1", + "increased height of the anatomical entity", + "Abnormality of the hand (HPO)", + "abnormal manus", + "abnormal size of heart right ventricle", + "bone element hypoplasia in independent continuant", + "Clinodactyly of the 5th finger (HPO)", + "abnormal limb bone morphology", + "abnormal radius bone", + "abnormal manus morphology", + "Ventricular hypertrophy (HPO)", + "myeloid cell differentiation", + "manus", + "semi-lunar valve", + "segment of manus", + "manual digit 1 or 5", + "Abnormality of finger (HPO)", + "Abnormal 5th finger morphology (HPO)", + "abnormal manual digit 5 morphology", + "Abnormality of the small intestine (HPO)", + "erythrocyte differentiation", + "myeloid cell homeostasis", + "cellular developmental process", + "nerve", + "peripheral nervous system", + "developing anatomical structure", + "decreased size of the ulna", + "paralysed cranial nerve", + "Abnormality of peripheral nerves (HPO)", + "paralysed anatomical entity", + "lobe of cerebral hemisphere", + "Anorexia (HPO)", + "Abnormal cranial nerve physiology (HPO)", + "cranial neuron projection bundle", + "Abnormal cerebral ventricle morphology (HPO)", + "abnormal internal ear", + "Abnormal involuntary eye movements (HPO)", + "voluntary movement behavior", + "Abnormal vestibulo-ocular reflex (HPO)", + "Abnormal prostate morphology (HPO)", + "Vestibular dysfunction (HPO)", + "internal ear", + "Abnormality of the inner ear (HPO)", + "response to nutrient levels", + "Aplasia/Hypoplasia of the thumb (HPO)", + "reflexive behavior", + "Abnormality of movement (HPO)", + "abnormal enteric nervous system morphology", + "Recurrent infections (HPO)", + "involuntary movement behavior", + "abnormal forelimb zeugopod", + "abnormal ear morphology", + "Abnormal liver morphology (HPO)", + "Abnormal platelet count (HPO)", + "Abnormal ear morphology (HPO)", + "polyatomic entity", + "increased biological_process in independent continuant", + "abnormality of internal ear physiology", + "Hematological neoplasm (HPO)", + "neuromuscular process", + "abnormal iris morphology", + "digit 1 or 5", + "musculoskeletal movement", + "abnormal musculoskeletal movement", + "multicellular organismal movement", + "Non-obstructive azoospermia (HPO)", + "abnormal voluntary movement behavior", + "Nervous tissue neoplasm (HPO)", + "Abnormal erythroid lineage cell morphology (HPO)", + "pulmonary valve", + "Abnormality of bone marrow cell morphology (HPO)", + "decreased size of the anatomical entity", + "oxygen accumulating cell", + "postcranial axial skeleton", + "bone marrow cell", + "Abnormality of toe (HPO)", + "decreased height of the multicellular organism", + "mixed endoderm/mesoderm-derived structure", + "decreased size of the multicellular organism", + "decreased height of the anatomical entity", + "decreased qualitatively biological_process", + "abnormality of multicellular organism height", + "Abnormal breast morphology (HPO)", + "anatomical structure formation involved in morphogenesis", + "Breast carcinoma (HPO)", + "Neoplasm of the breast (HPO)", + "Abnormality of the breast (HPO)", + "Abnormal renal physiology (HPO)", + "abnormal chest", + "developmental process involved in reproduction", + "hindlimb stylopod", + "skeleton of pes", + "large intestine", + "Neoplasm of the colon (HPO)", + "smooth muscle contraction", + "abnormal muscle contraction in independent continuant", "changed muscle contraction rate", - "Abnormal thorax morphology", - "Abnormality of male external genitalia", - "abnormal forehead", - "absent anatomical entity in the semen", - "abnormal anatomical entity morphology", - "Abnormal reflex", + "abnormal intestine morphology", + "lateral structure", + "abnormal abdominal wall", + "Abnormal gastrointestinal motility (HPO)", + "abnormal arch of centrum of vertebra", + "Gastrointestinal dysmotility (HPO)", + "Thrombocytopenia (HPO)", + "abnormal cardial valve morphology in the heart", + "Patent ductus arteriosus (HPO)", + "Abnormal intestine morphology (HPO)", + "decreased muscle contraction", + "Neuroblastoma (HPO)", + "system process", + "chest", + "Neuroblastic tumor (HPO)", + "Primitive neuroectodermal tumor (HPO)", + "pathological phenotype observation", + "shape eyelid", + "Abnormal aortic valve morphology (HPO)", + "Peripheral primitive neuroectodermal neoplasm (HPO)", + "ulna hypoplasia", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "decreased length of forelimb zeugopod bone", + "aplasia or hypoplasia of ulna", + "Aplasia/Hypoplasia of the ulna (HPO)", + "Forearm undergrowth (HPO)", + "digitopodium bone", + "increased pigmentation in skin of body", + "Short forearm (HPO)", + "Abdominal pain (HPO)", + "Decreased bone element mass density", + "posterior nasal aperture", + "eye movement", + "Abnormality of bone mineral density (HPO)", "Decreased anatomical entity mass density", - "Diarrhea", - "abnormal synovial joint morphology", - "abnormal male reproductive organ morphology", - "abnormal anatomical entity, curved", - "absent sperm in the independent continuant", - "abnormal vein morphology", - "abnormal external ear morphology", - "absent anatomical entity in the multicellular organism", - "Microphthalmia", - "Decreased body weight", - "decreased qualitatively developmental process", - "increased size of the liver", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "abnormal lower urinary tract", - "decreased qualitatively pigmentation in independent continuant", - "Renal hypoplasia/aplasia", - "abnormal spleen morphology", - "Abnormal penis morphology", - "Intellectual disability", - "Neoplasm", - "Abnormal cardiac atrium morphology", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "decreased qualitatively visual perception", - "abnormal interatrial septum morphology", - "Abnormality of the face", - "abnormal jaw skeleton morphology", - "increased biological_process in skin of body", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal ventricular septum morphology", - "Abnormality of the urethra", - "abnormal brain morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of chromosome stability", - "abnormal testis morphology", - "Abnormal cellular phenotype", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal size of the palpebral fissures", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Extrahepatic cholestasis", - "deviation of anatomical entity towards the middle", - "Abnormal testis morphology", - "abnormal incomplete closing of the secondary palate", - "abnormal blood cell morphology", - "abnormal cell", - "Abnormal shape of the palpebral fissure", - "abnormal spermatogenesis", - "Clubbing of toes", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "decreased biological_process in independent continuant", + "abnormal parasympathetic ganglion morphology", + "decreased length of palpebral fissure", + "Short palpebral fissure (HPO)", + "membrane bone", + "abnormal size of palpebral fissure", + "carbohydrate homeostasis", + "Abnormal internal genitalia (HPO)", + "Right ventricular hypertrophy (HPO)", + "homeostatic process", + "anatomical conduit", + "glucose homeostasis", + "anus atresia", + "chemical homeostasis", + "Abnormal leukocyte morphology (HPO)", + "abnormal skull morphology", + "Abnormal homeostasis (HPO)", + "Anal atresia (HPO)", + "shape uterus", + "autonomic nervous system", + "abnormal size of brain ventricle", + "Bicornuate uterus (HPO)", + "Elevated hepatic transaminase (HPO)", + "uterus", + "bicornuate uterus", + "3-D shape anatomical entity in independent continuant", + "abnormal uterus", + "duodenum", + "Abnormal uvula morphology (HPO)", + "soft palate", + "Myelodysplasia (HPO)", + "Abnormal soft palate morphology (HPO)", + "lower limb segment", + "Aplasia/Hypoplasia of the uvula (HPO)", + "tube closure", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "enteric ganglion", + "cerebrospinal fluid", + "abnormal cellular component organization", + "cell differentiation", + "internal female genitalia", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "epigenetic regulation of gene expression", + "central nervous system cell part cluster", + "serous membrane", + "programmed DNA elimination by chromosome breakage", + "epithelium development", + "abnormal neck", + "pelvic girdle region", + "cellular process", + "programmed DNA elimination", + "Abnormal tracheal morphology (HPO)", + "abnormal DNA metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "anterior chamber of eyeball", + "negative regulation of cellular process", + "prepuce", + "Abnormality of the autonomic nervous system (HPO)", + "endocrine gland", + "abnormal soft palate", "abnormally formed anatomical entity", - "absent sperm", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "Pancreatic adenocarcinoma", - "Abnormality of prenatal development or birth", - "Abnormal esophagus morphology", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal closing of the anatomical entity", - "Abnormal ear physiology", - "Functional abnormality of male internal genitalia", - "abnormally fused digit and anatomical entity", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "Aplasia/Hypoplasia of the testes", - "abnormal anterior chamber of eyeball morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal 5th finger morphology", - "abnormal anterior uvea morphology", - "Abnormality of the lymphatic system", - "Abnormal external genitalia", - "abnormal reproductive system morphology", - "abnormality of nervous system physiology", - "Hematological neoplasm", - "abnormal immune system morphology", - "abnormality of male reproductive system physiology", - "Thrombocytopenia", - "Abnormality of the immune system", - "Abnormality of reproductive system physiology", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "abnormal primary metabolic process", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "abnormality of digestive system physiology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal incomplete closing of the anatomical entity", - "Abnormal heart valve morphology", - "Hearing abnormality", - "abnormal hematopoietic system morphology", - "abnormally formed anatomical entity in independent continuant", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "Abnormal carotid artery morphology", - "Astigmatism", - "Abdominal symptom", - "abnormal alimentary part of gastrointestinal system", - "abnormal endocrine gland morphology", - "abnormal pulmonary valve morphology", - "Abnormal tracheobronchial morphology", - "Breast carcinoma", - "flat longitudinal arch of pes", - "abnormal bone of pectoral complex morphology", + "iris", + "chamber of eyeball", + "Abnormality iris morphology (HPO)", + "aplasia or hypoplasia of iris", + "abnormal glucose homeostasis", + "abnormal spinal cord", + "Diarrhea (HPO)", + "abnormal nose", + "abnormally formed anterior chamber of eyeball", + "organ", + "Aplastic anemia (HPO)", + "uvea", + "bone marrow", + "aplasia or hypoplasia of uvea", + "abnormal skin of head morphology", + "manual digitopodium bone", + "increased length of the epicanthal fold", + "abnormal palatine uvula morphology", + "zone of skin", + "Hepatosplenomegaly (HPO)", + "skin of head", + "digitopodium region", + "bicornuate anatomical entity", + "skin of eyelid", + "epicanthal fold", + "abnormal skin of face morphology", + "abnormal muscle contraction", + "Functional intestinal obstruction (HPO)", + "head or neck skin", + "neurocranium", + "male organism", + "Abnormality of calvarial morphology (HPO)", + "abnormal vault of skull", + "growth", + "Increased head circumference (HPO)", + "malformed anatomical entity", + "neurocranium bone", + "Abnormality of connective tissue (HPO)", + "Abnormal cardiovascular system physiology (HPO)", + "pelvic girdle bone/zone", + "Abnormal pinna morphology (HPO)", + "Abnormal peripheral nervous system morphology (HPO)", + "pelvic girdle skeleton", + "abnormal artery morphology", + "vestibulo-ocular reflex", + "Abnormal hip joint morphology (HPO)", + "individual digit of digitopodial skeleton", + "thoracic cavity blood vessel", + "Abnormal joint morphology (HPO)", + "articulation", + "tetrapod frontal bone", + "limb joint", + "Pain (HPO)", + "pelvic region element", + "hip joint", + "abnormal synovial joint", + "Chronic fatigue (HPO)", + "girdle bone/zone", + "skeletal joint", + "tube morphogenesis", + "mesoderm-derived structure", + "girdle skeleton", + "Abnormality of pelvic girdle bone morphology (HPO)", + "Lower extremity joint dislocation (HPO)", + "abnormal vascular system morphology", + "Abnormal hip bone morphology (HPO)", "abnormal developmental process", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", - "Gonadal neoplasm", - "Neurodevelopmental abnormality", - "abnormal cardiovascular system morphology", - "sloped anatomical entity", - "Abnormality of mental function", - "abnormal craniocervical region morphology", - "abnormal growth", - "Leukopenia", - "abnormal kidney", - "abnormal number of anatomical enitites of type leukocyte", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", - "abnormal heart morphology", - "aplasia or hypoplasia of radius bone", - "abnormal number of anatomical entities of type anatomical entity in blood", - "Proptosis", - "changed embryo development rate", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormality of multicellular organism mass", - "Abnormal pulmonary valve physiology", - "abnormally decreased number of anatomical entity in the blood", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "abnormal myocardium morphology", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "abnormally decreased number of leukocyte in the blood", - "Melanoma", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Abnormal neck morphology", - "abnormal peritoneum morphology", - "abnormal endocrine system morphology", - "Ptosis", - "Pes planus", + "articular system", + "orbital region", + "bone of hip region", + "protein-DNA complex organization", + "process", + "pelvic appendage skeleton", + "abnormal anus morphology", + "abnormal consumption behavior", + "upper leg bone", + "abnormal voluntary musculoskeletal movement", + "Abnormality of femur morphology (HPO)", + "hindlimb bone", + "hindlimb skeleton", + "transudate", + "prominent anatomical entity", + "Abnormal lower limb bone morphology (HPO)", + "leg bone", + "hindlimb long bone", + "abnormal femur morphology", + "Abnormal thumb morphology (HPO)", + "Abnormality of limb bone morphology (HPO)", + "Neoplasm of the liver (HPO)", + "anterior uvea", + "abnormal kidney morphology", + "visual system", + "increased anatomical entity length in independent continuant", + "secondary palate", + "roof of mouth", + "intestine", + "abnormal ocular adnexa", + "Abnormality of forebrain morphology (HPO)", + "regulation of macromolecule biosynthetic process", + "anatomical space", + "digit 1", + "upper jaw region", + "increased height of the secondary palate", + "abnormal secondary palate morphology", + "zone of organ", + "Malignant neoplasm of the central nervous system (HPO)", + "connective tissue", + "ossification", + "Abnormality of the abdominal wall (HPO)", + "abnormal incomplete closing of the abdominal wall", + "decreased embryo development", + "abnormal development of anatomical entity", + "immune system process", + "Intrauterine growth retardation (HPO)", + "tube formation", + "anatomical structure development", + "Aplasia/hypoplasia of the extremities (HPO)", + "Frontal bossing (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "abnormal ductus arteriosus morphology", + "dentary", + "Abnormality of the radius (HPO)", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "abnormal testis morphology", + "abnormal breast morphology", + "Abnormal cellular physiology (HPO)", + "Abnormality of the cervical spine (HPO)", + "radius bone", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "vertebral column", + "upper limb segment", + "fallopian tube", + "abnormality of alimentary part of gastrointestinal system physiology", + "excretory tube", "decreased qualitatively sensory perception of mechanical stimulus", - "Mendelian inheritance", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "abnormally fused anatomical entity and anatomical entity", - "abnormal hemopoietic organ morphology", - "Abnormal consumption behavior", - "Abnormal male internal genitalia morphology", - "abnormally fused digit and digit", - "Arteriovenous malformation", - "Umbilical hernia", - "Clinodactyly of the 5th finger", - "Abnormal digit morphology", - "abnormally fused pedal digit and pedal digit", - "abnormal location of anatomical entity", - "abnormally fused pedal digit and anatomical entity", - "abnormal tetrapod frontal bone morphology", - "abnormality of internal ear physiology", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", - "abnormal size of multicellular organism", - "Renal insufficiency", - "increased length of the epicanthal fold", - "Peritoneal abscess", - "Cleft palate", - "abnormal pedal digit morphology", - "abnormal phenotype by ontology source", - "abnormal bone marrow cell morphology", - "Glucose intolerance", - "abnormal digit morphology", - "Abnormal conjugate eye movement", - "abnormal cardiac ventricle morphology", - "anatomical entity hypoplasia", - "Abnormal uvula morphology", - "Bicornuate uterus", + "abnormal lower urinary tract", + "subdivision of oviduct", "abnormal behavior", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal behavior process", - "Intermittent diarrhea", - "Poor appetite", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal eye movement", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal penis morphology", - "Abnormality iris morphology", - "abnormal cranium morphology", - "abnormal artery morphology in the independent continuant", - "ulna hypoplasia", - "abnormality of exocrine gland physiology", + "decreased qualitatively sensory perception of sound", + "consumption behavior", + "Hearing impairment (HPO)", + "abnormality of ear physiology", + "abnormal kidney", + "negative regulation of macromolecule biosynthetic process", + "ear", + "digit 1 plus metapodial segment", + "circulatory system", "decreased size of the mandible", - "Intestinal pseudo-obstruction", - "Abnormality of exocrine pancreas physiology", - "abnormal cardiac septum morphology", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "drooping anatomical entity", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "abnormal opening of the anatomical entity", - "Neoplasm of the liver", - "Abnormal atrial septum morphology", - "abnormal anatomical entity morphology in the heart", - "Abnormal cardiac septum morphology", - "Abnormality of the mouth", - "abnormal interventricular septum morphology", - "Overriding aorta", - "decreased muscle contraction", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "Abnormal jaw morphology", - "Meckel diverticulum", - "Ventricular hypertrophy", - "Forearm undergrowth", - "increased height of the secondary palate", - "Tetralogy of Fallot", - "Aplasia/Hypoplasia of the thumb", - "Abnormal morphology of the great vessels", - "abnormal great vessel of heart morphology", - "abnormally increased volume of anatomical entity", - "Neoplasm of the genitourinary tract", - "Abnormal ventriculoarterial connection", - "Growth delay", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "Chronic fatigue", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", - "Conotruncal defect", - "abnormal vertebra morphology", + "abnormal ear", + "Extrahepatic cholestasis (HPO)", + "abnormal soft palate morphology", + "reproductive gland", + "Cognitive impairment (HPO)", + "glandular system", + "shape forehead", + "abnormal shape of forehead", + "abnormal forehead", + "sloped forehead", + "abnormal forehead morphology", + "anatomical entity hypoplasia", + "abnormal facial skeleton morphology", + "dermal bone", + "bone of free limb or fin", + "jaw skeleton", + "Facial asymmetry (HPO)", + "facial skeleton", + "Abnormality of the ear (HPO)", "increased size of the heart right ventricle", - "Localized skin lesion", - "abnormal cardiac valve morphology", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal cerebrospinal fluid morphology", - "Abnormal cardiovascular system physiology", - "Abnormal myocardium morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "Abnormal leukocyte count", - "Facial asymmetry", - "abnormal sensory perception of sound", - "Abnormal facial shape", - "Craniofacial cleft", - "Decreased fertility", - "abnormal spatial pattern of anatomical entity", - "abnormal incomplete closing of the ductus arteriosus", - "Colon cancer", - "abnormal aortic valve morphology", - "abnormal anterior segment of eyeball morphology", - "aplasia or hypoplasia of skeleton", - "Abnormal facial skeleton morphology", - "bone element hypoplasia in independent continuant", + "dermal skeletal element", + "aplasia or hypoplasia of skull", "mandible hypoplasia", - "Abnormality of skin morphology", - "Diabetes mellitus", - "abnormal mouth", - "Aplasia/Hypoplasia involving bones of the skull", + "anatomical entity hypoplasia in face", + "gastro-intestinal system smooth muscle contraction", + "bone of lower jaw", + "Medulloblastoma (HPO)", + "myocardium", + "Micrognathia (HPO)", + "abnormally increased number of anatomical entity in the independent continuant", + "pedal digit phalanx endochondral element", + "primary subdivision of skull", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Aplasia/Hypoplasia affecting the uvea (HPO)", + "chemosensory system", + "aplasia or hypoplasia of skeleton", + "Abnormal facial skeleton morphology (HPO)", + "abnormal ocular adnexa morphology", + "primary subdivision of cranial skeletal system", + "Pes planus (HPO)", + "dermal skeleton", + "Hypoplastic facial bones (HPO)", + "anatomical cluster", + "dermatocranium", + "Anemia of inadequate production (HPO)", + "jaw region", "facial bone hypoplasia", - "aplasia or hypoplasia of skull", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal large intestine morphology", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "Gastrointestinal obstruction", - "clavate anatomical entity", + "postcranial axial skeletal system", + "abnormal size of multicellular organism", + "abnormal mouth morphology", + "decreased biological_process in independent continuant", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "abnormal blood vessel morphology", + "Abnormal mandible morphology (HPO)", + "Abnormality of thumb phalanx (HPO)", "aplasia or hypoplasia of mandible", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormal heart morphology", - "abnormally localised anatomical entity", - "shape forehead", - "herniated abdominal wall", - "sloped forehead", - "Short forearm", - "abnormal manual digit 5 morphology", - "Sloping forehead", - "abnormality of ear physiology", + "aplasia or hypoplasia of radius bone", + "outflow part of left ventricle", + "abnormality of cranial nerve physiology", + "abnormal aortic valve morphology", + "outflow tract", + "conceptus", + "abnormal systemic artery morphology", + "Abnormality of enteric nervous system morphology (HPO)", + "vasculature of organ", + "vasculature of trunk", + "thoracic cavity element", + "heart blood vessel", + "thoracic segment blood vessel", + "renal system", + "abnormal artery morphology in the independent continuant", + "embryonic cardiovascular system", + "trunk blood vessel", + "male gamete generation", "decreased sensory perception of sound", - "abnormality of alimentary part of gastrointestinal system physiology", - "Functional intestinal obstruction", - "Functional abnormality of the gastrointestinal tract", - "Recurrent urinary tract infections", - "abnormal response to external stimulus", - "abnormal fallopian tube morphology", - "abnormal manual digit 1 morphology", - "Abnormal fallopian tube morphology", - "Syndactyly", + "Decreased head circumference (HPO)", + "abnormal asymmetry of anatomical entity", + "vault of skull", + "neural tube development", + "abnormal spatial pattern of anatomical entity", + "cardiovascular system", + "abnormal face morphology", + "anatomical entity dysfunction in independent continuant", + "Short long bone (HPO)", + "abnormal myocardium morphology", + "Abnormal myocardium morphology (HPO)", "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "abnormal late embryo", - "Deviation of the hand or of fingers of the hand", - "Aplasia/hypoplasia involving forearm bones", - "abnormal development of anatomical entity", - "aplasia or hypoplasia of ulna", - "Abnormal thumb morphology", - "abnormal cornea morphology", - "Intrauterine growth retardation", - "Neuroblastic tumor", - "abnormal breast", + "abnormally decreased functionality of the anatomical entity", + "Melanoma (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "midface", + "Gastrointestinal obstruction (HPO)", + "Abnormal heart valve morphology (HPO)", "abnormal embryo development", - "decreased embryo development", - "Hernia of the abdominal wall", - "Abnormal cell morphology", - "Abnormality of digestive system physiology", - "Abnormal palate morphology", - "Abnormality of connective tissue", - "Abnormality of the cervical spine", - "Abnormal umbilicus morphology", - "abnormal abdominal wall", - "Hernia", - "Abnormality of the abdominal wall", - "Medulloblastoma", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Neoplasm of the central nervous system", - "Abnormal intestine morphology", - "Malignant neoplasm of the central nervous system", - "Abnormal midface morphology", + "abnormal cardial valve morphology in the independent continuant", + "Abnormal heart valve physiology (HPO)", + "interventricular septum", + "increased size of the anatomical entity in independent continuant", + "tracheobronchial tree", + "zone of bone organ", + "Abdominal wall defect (HPO)", + "abnormal uterus morphology", + "lower jaw region", + "Hypoplasia of the ulna (HPO)", + "valve", + "aortic system", + "abnormal aorta morphology", + "cardiac ventricle", + "hypertrophic heart right ventricle", + "Abnormal cardiac ventricle morphology (HPO)", + "sensory perception of light stimulus", + "Abnormality of the uterus (HPO)", + "Abnormal pulmonary valve physiology (HPO)", + "abnormal incomplete closing of the interventricular septum", + "Abnormal morphology of the great vessels (HPO)", + "Overriding aorta (HPO)", + "manual digit 5", + "Abnormality of long bone morphology (HPO)", + "aorta", + "abnormally increased volume of anatomical entity", + "Tetralogy of Fallot (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "abnormal pulmonary valve morphology", + "Congenital malformation of the great arteries (HPO)", + "Abnormal aortic morphology (HPO)", + "abnormal zone of skin morphology", + "abnormal cardiac ventricle morphology in the heart", + "limb long bone", + "Colon cancer (HPO)", + "Pulmonic stenosis (HPO)", + "multicellular organism", + "negative regulation of cellular biosynthetic process", + "right cardiac chamber", + "great vessel of heart", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal cardiac atrium morphology in the independent continuant", + "prepuce of penis", + "non-connected functional system", + "Abnormal cardiac atrium morphology (HPO)", + "interatrial septum", + "abnormal heart morphology", + "autopodial skeleton", + "septum", + "Hypertelorism (HPO)", + "abnormal cornea, asymmetrically curved", + "Atrial septal defect (HPO)", + "Abnormal atrial septum morphology (HPO)", + "cellular component organization or biogenesis", + "abnormal cardiac atrium morphology", + "heart plus pericardium", + "cardiac septum", + "abnormal cardiac septum morphology", + "male accessory sex gland", + "abnormal pelvic girdle bone/zone morphology", + "abnormal interatrial septum morphology", + "decreased length of long bone", + "shape palpebral fissure", + "abnormality of exocrine pancreas physiology", + "Neuroepithelial neoplasm (HPO)", + "abnormality of pancreas physiology", + "Generalized abnormality of skin (HPO)", + "Abnormality of pancreas physiology (HPO)", + "regulation of biological quality", + "Abnormal morphology of ulna (HPO)", + "abnormality of gland physiology", + "intramembranous bone", + "heart layer", + "abnormality of exocrine gland physiology", + "anterior region of body", + "Abnormal uterus morphology (HPO)", + "Abnormality of exocrine pancreas physiology (HPO)", + "Exocrine pancreatic insufficiency (HPO)", + "serous gland", + "abnormal cellular metabolic process", + "Abnormal palate morphology (HPO)", + "enteric nervous system", + "body part movement", + "protein", + "Abnormality of eye movement (HPO)", + "decreased qualitatively pigmentation in independent continuant", + "Hypopigmented skin patches (HPO)", + "Behavioral abnormality (HPO)", + "morphological feature", + "Nausea and vomiting (HPO)", + "abnormal response to stimulus", + "Abnormal vertebral morphology (HPO)", + "abnormal shape of continuant", + "multi cell part structure", + "behavior process", + "Abnormality of the immune system (HPO)", + "abnormal eye movement", + "decreased qualitatively biological_process in independent continuant", + "constricted pulmonary valve", + "abnormal behavior process", + "Functional abnormality of the inner ear (HPO)", + "Strabismus (HPO)", + "abnormal pedal digit", + "facial bone", + "abnormal digit", + "segment of pes", + "amino acid chain", + "pectoral complex", + "segment of autopod", + "regulation of biological process", + "aplasia or hypoplasia of eyeball of camera-type eye", + "digit", + "negative regulation of gene expression", + "abnormally fused digit and anatomical entity", + "abnormally fused pedal digit and pedal digit", + "Toe syndactyly (HPO)", + "Abnormal size of the palpebral fissures (HPO)", + "Upper limb undergrowth (HPO)", + "digit plus metapodial segment", + "embryo development", + "shape longitudinal arch of pes", + "flattened anatomical entity", + "layer of muscle tissue", + "pedal digitopodium region", + "longitudinal arch of pes", + "flat anatomical entity in independent continuant", + "hindlimb", + "pelvic complex", + "tissue morphogenesis", + "Clinodactyly (HPO)", + "pedal digit bone", + "abnormal pes morphology", + "Leukopenia (HPO)", + "decreased size of the anatomical entity in the pectoral complex", + "leg", + "synovial joint of pelvic girdle", + "pes", + "decreased gastro-intestinal system smooth muscle contraction", + "Abnormality of the mouth (HPO)", + "pancreas", + "Deviation of the 5th finger (HPO)", + "abnormal craniocervical region", + "regulation of macromolecule metabolic process", + "anatomical entity", + "abnormal exocrine gland morphology", + "abnormal pancreas", + "digestive system gland", + "Abnormal external genitalia (HPO)", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "Neoplasm of the pancreas (HPO)", + "femur endochondral element", + "Abnormality of digestive system physiology (HPO)", + "Pancreatic adenocarcinoma (HPO)", + "Abnormality of the pancreas (HPO)", + "Proptosis (HPO)", + "ecto-epithelium", + "increased length of the anatomical line between pupils", + "abnormal visual perception", + "visual perception", + "abnormal abdomen morphology", + "cranial bone", + "exocrine gland", + "abnormal sensory perception of light stimulus", + "mouth", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Microphthalmia (HPO)", + "internal naris atresia", + "drooping eyelid", + "abdominal viscera", + "myeloid cell", + "blood cell", + "abdominal wall", + "changed embryo development rate", + "external genitalia", + "biogenic amine secreting cell", + "Abnormal umbilicus morphology (HPO)", + "anatomical wall", + "Abnormality of thrombocytes (HPO)", + "delayed growth", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "hypothalamus-pituitary axis", + "Abnormality of the female genitalia (HPO)", + "abnormal hypothalamus-pituitary axis", + "abnormal sensory perception of sound", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "hindlimb joint", + "bone element", + "cavitated compound organ", + "joint of girdle", + "abnormal late embryo", + "amniotic fluid", + "abnormal organelle organization", + "synovial joint", + "coronary vessel", + "morphogenesis of an epithelium", + "abnormal anatomical entity, asymmetrically curved", + "forelimb skeleton", + "main group molecular entity", + "Abnormal anterior chamber morphology (HPO)", + "Abnormality of body height (HPO)", + "regulation of cellular process", + "organonitrogen compound", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "metabolic process", + "Neurodevelopmental abnormality (HPO)", + "organic amino compound", + "heteroorganic entity", + "Choanal atresia (HPO)", + "information biomacromolecule", + "nitrogen molecular entity", + "molecular entity", + "macromolecule", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", + "abnormal location of eyeball of camera-type eye", + "curvature anatomical entity in independent continuant", + "chemical entity", + "immaterial entity", + "Fatigue (HPO)", + "non-material anatomical boundary", "abnormal oral cavity morphology", - "abnormal heart right ventricle morphology", + "abnormal location of anatomical entity", + "male germ cell", + "anatomical line", + "abnormally fused manual digit and anatomical entity", + "pes bone", + "head bone", + "urethral meatus", + "abnormal respiratory system morphology", + "male urethra", + "erythrocyte homeostasis", + "camera-type eye", + "urethral opening", + "Displacement of the urethral meatus (HPO)", + "Hearing abnormality (HPO)", + "abnormal sensory perception", + "abnormal urethra", + "Deviation of the hand or of fingers of the hand (HPO)", + "Nystagmus (HPO)", + "Abdominal symptom (HPO)", + "Abnormality of the urinary system (HPO)", + "Neoplasm of the large intestine (HPO)", + "Abnormality of the midface (HPO)", + "Intermittent diarrhea (HPO)", + "protein-containing complex organization", + "abnormal closing of the anatomical entity", + "Embryonal neoplasm (HPO)", + "Abnormal ear physiology (HPO)", + "Poor appetite (HPO)", + "Embryonal renal neoplasm (HPO)", + "abnormal upper urinary tract", + "abnormal hematopoietic system", + "aplasia or hypoplasia of palatine uvula", + "constricted duodenum", + "abnormally fused anatomical entity and anatomical entity", + "Abnormal cellular immune system morphology (HPO)", + "Abnormality of the lower urinary tract (HPO)", + "Renal neoplasm (HPO)", + "abnormal renal system", + "Abnormality of the curvature of the vertebral column (HPO)", + "multicellular organismal reproductive process", + "immune organ", + "Abnormality of brain morphology (HPO)", + "lymphoid system", + "abnormal size of liver", + "abnormal internal genitalia", + "Abnormal spleen morphology (HPO)", + "increased size of the anatomical entity", + "Almond-shaped palpebral fissure (HPO)", + "Abnormality of the curvature of the cornea (HPO)", + "ovary", + "spleen", + "Ocular anterior segment dysgenesis (HPO)", + "abnormal spleen morphology", + "abnormal endocrine gland morphology", + "Abnormality of cardiovascular system morphology (HPO)", + "increased size of the viscus", + "dorsal region element", + "abnormal spleen", + "abnormal lymphatic part of lymphoid system", + "chromatin remodeling", "abnormality of anatomical entity height", - "abnormal midface morphology", + "abnormal genitourinary system", + "Renal hypoplasia/aplasia (HPO)", + "forehead", + "Splenomegaly (HPO)", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "Abnormality of the anus (HPO)", + "increased size of the lymph node", + "Anorectal anomaly (HPO)", + "abnormal interventricular septum morphology", + "abnormal anatomical entity morphology in the heart", + "Abnormal fallopian tube morphology (HPO)", + "shape anatomical entity in independent continuant", + "Urinary tract neoplasm (HPO)", + "penis", + "Abnormal preputium morphology (HPO)", + "Abnormal penis morphology (HPO)", + "external soft tissue zone", + "abnormal endocrine system", + "abnormal prepuce of penis morphology", + "abnormal penis", + "excretory system", + "abnormal skeletal joint morphology", + "Arteriovenous malformation (HPO)", + "organ component layer", + "abnormal vein morphology", + "Spinal dysraphism (HPO)", + "Neoplasm of the nervous system (HPO)", + "abnormal integument", + "forelimb", + "Abnormal morphology of female internal genitalia (HPO)", + "zeugopod", + "abnormally fused manual digit and manual digit", + "limb endochondral element", + "Abnormality of the gastrointestinal tract (HPO)", + "abnormal limb", + "abnormal arm", + "Hypospadias (HPO)", + "Abnormality of the amniotic fluid (HPO)", + "Morphological central nervous system abnormality (HPO)", + "Umbilical hernia (HPO)", + "abnormal cardiac ventricle morphology", + "abnormal pigmentation", + "glans", + "paired limb/fin skeleton", + "abnormal long bone morphology", + "abnormal phenotype by ontology source", + "abnormal heart right ventricle morphology", + "Abnormality of forearm bone (HPO)", + "abnormal anatomical entity topology in independent continuant", + "heart vasculature", + "arm", + "female reproductive organ", + "skeleton of lower jaw", + "bone of appendage girdle complex", + "motile cell", + "skeleton of limb", + "Abnormal oral morphology (HPO)", + "Abnormality of the ureter (HPO)", + "forelimb zeugopod skeleton", + "cranium", + "Syndactyly (HPO)", + "pectoral appendage skeleton", + "nervous system", + "appendicular skeletal system", + "multi-limb segment region", + "Abnormality of limb bone (HPO)", + "abnormal ulna", + "abnormal breast", + "brain gray matter", + "Tracheoesophageal fistula (HPO)", + "response to stimulus", + "continuant", + "femur", + "forelimb endochondral element", + "abnormal forelimb zeugopod bone morphology", + "internal genitalia", + "forelimb bone", + "Recurrent maladaptive behavior", + "changed developmental process rate", + "abnormally increased number of brain ventricle in the independent continuant", + "Abnormality of lower limb joint (HPO)", + "abnormal biliary system", + "ulna endochondral element", + "biomacromolecule", + "appendage girdle region", + "Deviation of finger (HPO)", + "Abnormal reflex (HPO)", + "muscle contraction", + "appendicular skeleton", + "Abnormality of the outer ear (HPO)", + "limb skeleton subdivision", + "abnormal reproductive system", + "Hyperpigmentation of the skin (HPO)", + "exocrine pancreas", + "urethra", + "paired limb/fin segment", + "Abnormal upper limb bone morphology (HPO)", + "abnormal great vessel of heart morphology", + "abnormal appendicular skeleton morphology", + "increased biological_process", + "arm bone", + "abnormal hindlimb joint", + "Abnormal abdomen morphology (HPO)", + "forelimb long bone", + "abnormal limb long bone morphology", + "Abnormal skull morphology (HPO)", + "cellular component organization", + "decreased size of the eyeball of camera-type eye", + "Constitutional symptom (HPO)", + "Dolichocephaly (HPO)", + "appendage girdle complex", + "organism subdivision", + "abnormal incomplete closing of the anatomical entity", + "Abnormality of the neck (HPO)", + "abnormal internal female genitalia morphology", + "embryo", + "pectoral appendage", + "pedal digit", + "trunk", + "Abnormality of the ulna (HPO)", + "animal cell", + "Sideroblastic anemia (HPO)", + "body proper", + "Abnormality of the digestive system (HPO)", + "Abnormal large intestine morphology (HPO)", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal limb bone", + "increased qualitatively biological_process in independent continuant", + "increased pigmentation in independent continuant", + "pigmentation", + "proximo-distal subdivision of respiratory tract", + "abnormal anus", + "abnormal forebrain morphology", + "cell", + "Macule (HPO)", + "Glucose intolerance (HPO)", + "abnormally fused anatomical entity and manual digit", + "abnormally formed anatomical entity in independent continuant", + "Abnormality of the nose (HPO)", + "pnictogen molecular entity", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "Abnormality of ganglion (HPO)", + "breast", + "germ line cell", + "Abnormal bone structure (HPO)", + "abnormality of internal male genitalia physiology", + "abnormal size of spleen", + "Conotruncal defect (HPO)", + "abnormal brain ventricle/choroid plexus morphology", + "vertebral centrum element", + "Irregular hyperpigmentation (HPO)", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Localized skin lesion (HPO)", + "abdomen", + "nervous system process", + "exocrine system", + "integument", + "cellular organisms", + "autopod region", + "biliary system", + "chordate embryonic development", + "anucleate cell", + "voluntary musculoskeletal movement", + "Visual impairment (HPO)", + "sensory perception", + "Astigmatism (HPO)", + "circulatory organ", + "increased size of the spleen", + "Abnormality of male internal genitalia (HPO)", + "abnormality of male reproductive system physiology", + "face", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "Finger clinodactyly (HPO)", + "anatomical entity hypoplasia in independent continuant", + "regional part of nervous system", + "kinesthetic behavior", + "abnormally fused pedal digit and anatomical entity", + "flattened anatomical entity in independent continuant", + "abnormal male reproductive organ morphology", + "blood vessel", + "manual digit 1 phalanx", + "hepatobiliary system", + "cervical region", + "blood vasculature", + "Abnormality of the skin (HPO)", + "Abnormality of the endocrine system (HPO)", + "liver", + "epithelial tube", + "increased reflex", + "Abnormal digit morphology (HPO)", + "Abnormality of the genital system (HPO)", + "feces", + "Abnormality of the lower limb (HPO)", + "erythrocyte", + "increased length of the anatomical entity", + "telencephalon", + "Pancytopenia (HPO)", + "abnormal fallopian tube morphology", + "Abnormality of prenatal development or birth (HPO)", + "Opisthokonta", + "abnormal telencephalon morphology", + "abnormal forelimb zeugopod bone", + "abnormal cellular process", + "hindlimb endochondral element", + "p-block molecular entity", + "Dermatological manifestations of systemic disorders (HPO)", + "Eumetazoa", + "decreased qualitatively visual perception", + "organism", + "Microcephaly (HPO)", + "frontal lobe", + "pedal digit plus metapodial segment", + "ventricle of nervous system", + "abnormal biological_process in independent continuant", + "lower respiratory tract", + "upper digestive tract", + "shape cornea", + "forebrain", + "Eukaryota", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal multicellular organismal reproductive process", + "root", + "Abnormal ventriculoarterial connection (HPO)", + "manual digit bone", + "Abnormal eye physiology (HPO)", + "Abnormal shape of the palpebral fissure (HPO)", + "abnormal shape of palpebral fissure", + "abnormal internal naris", + "vessel", + "vasculature", + "Abnormal systemic arterial morphology (HPO)", + "abnormal systemic arterial system morphology", + "Abnormality of the cardiovascular system (HPO)", + "Intellectual disability (HPO)", + "Abnormal blood vessel morphology (HPO)", + "Abnormality of the vasculature (HPO)", + "digit 5 plus metapodial segment", + "Abnormality of metabolism/homeostasis (HPO)", + "Chromosome breakage (HPO)", + "abnormal common carotid artery plus branches morphology", + "Abnormal platelet morphology (HPO)", + "anatomical projection", + "systemic arterial system", + "upper eyelid", + "Hepatomegaly (HPO)", + "Epicanthus (HPO)", + "negative regulation of biological process", + "abnormal cardiovascular system morphology", + "common carotid artery plus branches", + "abnormal head bone morphology", + "abnormal leg", + "nerve of head region", + "Abnormal myeloid cell morphology (HPO)", + "abnormal vasculature", + "abnormal cardiovascular system", + "abnormality of nervous system physiology", + "abnormal liver morphology", + "left cardiac chamber", + "Abnormality of enteric ganglion morphology (HPO)", + "trunk region element", + "external ear", + "ulna", + "abnormal amniotic fluid", + "Abnormal cerebral morphology (HPO)", + "vein", + "abnormal incomplete closing of the interatrial septum", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "hypertrophic cardiac ventricle", + "abnormal immune system", + "oviduct", + "Abnormal eye morphology (HPO)", + "anatomical entity atresia", + "Diabetes mellitus (HPO)", + "abnormal asymmetry of face", + "internal naris", + "abnormal physiologic nystagmus", + "skeleton of pelvic complex", + "respiratory airway", + "abnormal internal male genitalia", + "kidney", + "heart right ventricle", + "posterior nasal aperture atresia", + "epithelial tube morphogenesis", + "abnormal bone of pectoral complex morphology", + "arterial system", + "Abnormal foot morphology (HPO)", + "orifice of skull", + "phenotype by ontology source", + "Weight loss (HPO)", + "olfactory organ", + "long bone", + "Abnormal neck morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Male reproductive system neoplasm (HPO)", + "abnormal posterior nasal aperture morphology", + "Back pain (HPO)", + "Abnormal bone ossification (HPO)", + "Abnormality of the urethra (HPO)", + "nose", + "endocrine system", + "skull", + "Abnormality of the choanae (HPO)", + "peritoneum", + "gonad", + "abnormal lens of camera-type eye", + "Primary peritoneal carcinoma (HPO)", + "abnormal digestive system", + "Abnormal male urethral meatus morphology (HPO)", + "Abnormality of digestive system morphology (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "negative regulation of macromolecule metabolic process", + "abnormally fused anatomical entity and digit", + "digestive system element", + "trunk or cervical vertebra", + "Abnormal enzyme/coenzyme activity (HPO)", + "abnormal external genitalia", + "Visceromegaly (HPO)", + "Growth abnormality (HPO)", + "Decreased body weight (HPO)", + "craniocervical region", + "abnormal connective tissue", + "aortic valve", + "abnormal eyeball of camera-type eye", + "abnormal hip joint morphology", + "testis", + "Peritoneal abscess (HPO)", + "Abnormal appendicular skeleton morphology (HPO)", + "pedal digitopodium bone", + "brain ventricle/choroid plexus", + "abnormal small intestine", + "abnormal vestibulo-ocular reflex", + "anatomical cavity", + "Abnormality of corneal shape (HPO)", + "Decreased anatomical entity mass", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "independent continuant", + "Meckel diverticulum (HPO)", + "pelvic region of trunk", + "Ptosis (HPO)", + "increased biological_process in skin of body", + "respiratory system", + "abnormal growth", + "abnormality of multicellular organism mass", + "eukaryotic cell", + "organ system subdivision", + "Cataract (HPO)", + "Hypogonadism (HPO)", + "Abnormal immune system morphology (HPO)", + "abnormal umbilicus morphology", + "increased pigmentation", + "structure with developmental contribution from neural crest", + "male urethral meatus", + "clavate anatomical entity", + "leukocyte", + "Clubbing of toes (HPO)", + "blood", + "small intestine", + "secretory cell", + "autopodial extension", + "eyelid", + "embryonic morphogenesis", + "subdivision of organism along main body axis", + "Abnormality of vision (HPO)", + "eye", + "tissue", + "Abnormality of mental function", + "abnormal trachea morphology", + "Abnormality of the cerebrospinal fluid (HPO)", + "digit 5", + "Abnormal enzyme concentration or activity", + "hemopoiesis", + "Metazoa", + "multicellular organism reproduction", + "abnormal tracheobronchial tree morphology", + "subdivision of tube", + "manual digitopodium region", + "abnormal bone element mass density", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "skin of body", + "entire sense organ system", + "Abnormality of the phalanges of the toes (HPO)", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "male reproductive organ", + "multi-tissue structure", + "Cranial nerve paralysis (HPO)", + "simple eye", + "abnormal biological_process", + "abnormal alimentary part of gastrointestinal system", + "neural crest-derived structure", + "Abnormality of the abdominal organs (HPO)", + "arterial blood vessel", + "viscus", + "limb bone", + "thoracic segment organ", + "venous blood vessel", + "esophagus", + "Abnormal shape of the frontal region (HPO)", + "late embryo", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal external male genitalia", + "digestive tract", + "Abnormal uvea morphology (HPO)", + "Jaundice (HPO)", + "decreased length of anatomical entity", + "Hernia of the abdominal wall (HPO)", + "quality", + "abnormal digestive system morphology", + "Global developmental delay (HPO)", + "umbilicus", + "vascular system", + "Abnormality of the vertebral column (HPO)", + "Mode of inheritance (HPO)", + "Abnormal spermatogenesis (HPO)", + "abnormal anterior segment of eyeball morphology", + "anatomical line between pupils", + "ocular adnexa", + "skeleton of manual digitopodium", + "subdivision of digestive tract", + "endoderm-derived structure", + "Abnormality of the respiratory system (HPO)", + "forelimb zeugopod bone", + "Triphalangeal thumb (HPO)", + "asymmetrically curved anatomical entity", + "abnormal cardial valve morphology", + "Cholestasis (HPO)", + "nucleate cell", + "bone element hypoplasia in face", + "digestive system", + "abnormal ovary", + "abdominal segment element", + "radius endochondral element", + "abnormal respiratory tube morphology", + "abnormal multicellular organism morphology", + "Aplasia/Hypoplasia affecting the anterior segment of the eye (HPO)", + "Abnormality of the liver (HPO)", + "response to external stimulus", + "Abnormal respiratory system morphology (HPO)", + "material anatomical entity", + "skeleton of pedal digitopodium", + "abnormal reproductive process", + "Abnormal cerebral cortex morphology (HPO)", + "abnormal esophagus morphology", + "palpebral fissure", + "lens of camera-type eye", + "behavior", + "abnormal palpebral fissure", + "haploid cell", + "ectoderm-derived structure", + "gray matter of telencephalon", + "parasympathetic nervous system", + "increased qualitatively biological_process", + "vertebra", + "decreased biological_process in multicellular organism", + "hypertrophic multicellular anatomical structure", + "spermatogenesis", + "occurrent", + "Joint dislocation (HPO)", + "internal male genitalia", + "Abnormal testis morphology (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "negative regulation of metabolic process", + "Abnormal heart morphology (HPO)", + "abnormal gamete generation", + "Abnormal frontal bone morphology (HPO)", + "Abnormal erythrocyte morphology (HPO)", + "somatic cell", + "physiologic nystagmus", + "Intestinal pseudo-obstruction (HPO)", + "Abnormality of skin morphology (HPO)", + "gamete generation", + "abnormal enteric ganglion morphology", + "Abnormality of male external genitalia (HPO)", + "ocular surface region", + "hemopoietic organ", + "developmental process", + "Neoplasm of the central nervous system (HPO)", + "reproductive process", + "multicellular organismal process", + "abnormal opening of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of reproductive system physiology (HPO)", + "decreased length of neck", + "Absent testis (HPO)", + "abnormal semi-lunar valve morphology", + "reproductive structure", + "cognition", + "obsolete cell", + "Abnormal nervous system physiology (HPO)", + "serotonin secreting cell", + "decreased biological_process", + "Abnormal conjugate eye movement (HPO)", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "Hydrocephalus (HPO)", + "bone of pectoral complex", + "neck", + "semen", + "flat anatomical entity", + "cranial nerve related reflex", + "abnormal anatomical entity morphology in the independent continuant", + "multicellular organism development", + "abnormality of cardiovascular system physiology", + "abnormal spermatogenesis", "increased height of anatomical entity in independent continuant", - "High palate", - "abnormal renal system morphology", - "abnormal kidney morphology", - "abnormal hindlimb stylopod morphology", - "abnormal physiologic nystagmus", - "abnormal femur morphology", - "Abnormality of femur morphology", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "skeletal joint dislocation", - "abnormal pelvic girdle bone/zone morphology", - "Increased head circumference", - "Abnormal hip bone morphology", - "Lower extremity joint dislocation", - "Abnormal joint morphology", - "Abnormal cerebral morphology", - "Joint dislocation", - "Micrognathia", - "anatomical entity dislocation", - "abnormal synovial joint of pelvic girdle morphology", - "abnormal hip joint morphology", - "abnormal vault of skull", - "Abnormality of the ovary", - "Abnormal aortic morphology", - "Abscess", - "abnormal external genitalia", - "abnormal size of head", - "increased size of the head", + "germ cell", + "stylopod", + "immune system", + "organ part", + "appendage", + "changed biological_process rate in independent continuant", + "gamete", + "regional part of brain", + "abnormal endocrine system morphology", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal anatomical entity mass density", + "decreased developmental process", + "Multiple cafe-au-lait spots (HPO)", + "changed biological_process rate", + "Abnormal glucose homeostasis (HPO)", + "limb", + "male gamete", + "mandible", + "zeugopodial skeleton", + "ileum", + "abnormal peripheral nervous system", + "olfactory system", + "Aplasia/Hypoplasia of the testes (HPO)", + "Abnormal ventricular septum morphology (HPO)", + "Abnormal cell morphology (HPO)", + "increased size of the abdominal viscera", + "Abnormality of the integument (HPO)", + "Short neck (HPO)", + "protein-containing material entity", + "Abnormal connection of the cardiac segments (HPO)", + "abnormal anatomical entity, curved", + "sexual reproduction", + "subdivision of skeleton", + "bone cell", + "heart", + "biological_process", + "cardiac chamber", + "abnormal anatomical entity morphology", + "cardiac valve", + "abnormal gland morphology", + "Hip dislocation (HPO)", + "decreased spermatogenesis", + "hematopoietic cell", + "cervical vertebra", + "hip", + "sensory perception of mechanical stimulus", + "organic molecular entity", + "tunica fibrosa of eyeball", + "Reduced bone mineral density (HPO)", + "cardiac atrium", + "abnormal manual digit 1 morphology", + "Neoplasm by histology (HPO)", + "homeostasis of number of cells", + "abnormal size of skull", + "Nephroblastoma (HPO)", + "abnormal hemopoietic organ morphology", + "subdivision of vertebral column", + "transparent eye structure", + "abnormal anatomical entity morphology in the brain", + "Abnormal venous morphology (HPO)", + "multi organ part structure", + "abnormal midface", + "erythroid lineage cell", + "flat bone", + "Hernia (HPO)", + "hematopoietic system", + "genitourinary system", + "endochondral element", + "Abnormality of head or neck (HPO)", + "Abnormality of the synovia (HPO)", + "abnormal lymph node morphology", + "Neoplasm by anatomical site (HPO)", + "anatomical structure", + "Sloping forehead (HPO)", + "abnormal nervous system morphology", + "abnormal female reproductive system", + "Genital neoplasm (HPO)", + "abnormality of reproductive system physiology", + "abnormal reproductive system morphology", + "Gonadal neoplasm (HPO)", + "abnormal cornea, curved", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of the lymph nodes (HPO)", + "organism substance", + "reproductive organ", + "Abnormality of globe size (HPO)", + "Abnormal eyelid morphology (HPO)", + "Neoplasm (HPO)", + "cranial nerve", + "abnormality of camera-type eye physiology", + "abnormal uvea morphology", "abnormal skeletal system", - "Abnormal calvaria morphology", - "Dolichocephaly", - "abnormal neural tube closure", - "abnormal skin of head morphology", - "abnormal long bone morphology", - "Ovarian carcinoma", - "abnormal skin of face morphology", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "abnormal chromatin organization", - "abnormal nitrogen compound metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal roof of mouth morphology", - "prominent anatomical entity", - "Chromosome breakage", + "Abnormal nervous system morphology (HPO)", + "forelimb zeugopod bone hypoplasia", + "Growth delay (HPO)", + "acropodium region", + "ventricular system of central nervous system", + "dorsum", + "tissue development", + "central nervous system", + "immaterial anatomical entity", + "Abnormal reproductive system morphology (HPO)", + "haemolymphatic fluid", + "musculature of body", + "native cell", + "ventricular system of brain", + "axial skeleton plus cranial skeleton", + "palatine uvula", + "disconnected anatomical group", + "intromittent organ", + "brain ventricle", + "Abnormality of the head (HPO)", + "hemolymphoid system", + "alimentary part of gastrointestinal system", + "system", + "Abnormality of skull size (HPO)", + "external male genitalia", + "abnormal shape of cornea", + "abnormal anatomical entity morphology in the pectoral complex", + "High palate (HPO)", + "abnormal cornea morphology", + "bodily fluid", + "Abnormal right ventricle morphology (HPO)", + "Abnormal leukocyte count (HPO)", + "Abnormality of the calvaria (HPO)", + "Abnormal pulmonary valve morphology (HPO)", + "respiratory tract", + "Abnormality of immune system physiology (HPO)", + "gray matter", + "Abnormal consumption behavior (HPO)", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "Abnormal form of the vertebral bodies (HPO)", + "aplasia or hypoplasia of telencephalon", "abnormal metabolic process", - "Lymphadenopathy", - "increased size of the lymph node", - "abnormal DNA metabolic process", - "abnormal cellular component organization", - "abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "Abnormal soft palate morphology", - "Aplasia/Hypoplasia of the uvula", - "abnormal uterus", - "Abnormality of the uterus", - "abnormal uterus morphology", - "Functional abnormality of the inner ear", - "shape uterus", + "abnormal brain morphology", + "upper urinary tract", + "delayed biological_process", + "skeletal system", + "manual digit plus metapodial segment", + "abnormal nervous system", + "neuron projection bundle", + "abnormal orbital region", + "orifice", + "Functional abnormality of the gastrointestinal tract (HPO)", + "innominate bone", + "abnormally increased number of anatomical entity", + "trunk bone", + "Abnormality of the forehead (HPO)", + "material entity", + "Abnormality of the biliary system (HPO)", + "abnormal head", + "Hydroureter (HPO)", + "asymmetrically curved cornea", + "abnormal central nervous system morphology", + "artery", + "abnormal male reproductive system", + "lower digestive tract", + "curved anatomical entity", + "abnormal bone of pelvic complex morphology", + "excreta", + "Limb undergrowth (HPO)", + "Abnormal facial shape (HPO)", + "curved anatomical entity in independent continuant", + "Abnormality of the spleen (HPO)", + "eyeball of camera-type eye", + "Aplasia/Hypoplasia of facial bones (HPO)", + "Abnormality of limbs (HPO)", + "reproduction", + "curvature anatomical entity", + "abnormal nerve", + "musculoskeletal system", + "abnormal camera-type eye morphology", + "abnormal cervical vertebra", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of refraction (HPO)", "3-D shape anatomical entity", - "abnormal glucose homeostasis", - "abnormal cellular process", - "abnormal carbohydrate homeostasis", - "Abnormal glucose homeostasis", - "Abnormal homeostasis", - "decreased length of palpebral fissure", - "increased pigmentation", - "Abnormal skeletal morphology", - "Short palpebral fissure", - "Gastrointestinal dysmotility", - "decreased length of forelimb zeugopod bone", - "abnormal incomplete closing of the interatrial septum", - "Decreased multicellular organism mass", - "abnormal consumption behavior", - "Aplasia/Hypoplasia of the ulna", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", - "decreased size of the anatomical entity in the pectoral complex", - "forelimb zeugopod bone hypoplasia", - "Primitive neuroectodermal tumor", - "changed developmental process rate", - "abnormal musculoskeletal movement", - "Nervous tissue neoplasm", - "Abnormality of the gastrointestinal tract", - "Neuroepithelial neoplasm", + "abdominal segment bone", + "Abnormality of the testis size (HPO)", + "decreased length of digit", + "abnormality of anatomical entity physiology", + "anterior segment of eyeball", + "multicellular organismal-level homeostasis", + "Abnormality of the male genitalia (HPO)", + "skeletal element", + "abnormal vertebral column", + "sensory system", + "abnormal innominate bone morphology", + "abnormality of anatomical entity mass", + "bone of craniocervical region", + "chromatin organization", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "abnormal cerebrospinal fluid", + "abnormal face", + "Abnormality of the lens (HPO)", + "reproductive system", + "abnormal phalanx of manus morphology", + "Neoplasm of the genitourinary tract (HPO)", + "aplasia or hypoplasia of anatomical entity", + "primary circulatory organ", + "cornea", + "Abnormality of the peripheral nervous system (HPO)", + "oral cavity", + "abnormal respiratory system", + "Abnormal male reproductive system physiology (HPO)", + "drooping anatomical entity", + "paired limb/fin", + "abnormal anatomical entity", + "Abnormal hand morphology (HPO)", + "cervical region of vertebral column", + "sensory perception of sound", + "bone of jaw", + "abnormal coronary vessel morphology", + "abnormal ulna morphology", + "irregular bone", + "dorsal part of neck", + "embryonic structure", + "cervical vertebra endochondral element", + "bone of dorsum", + "Abnormality of the genitourinary system (HPO)", + "nervous system cell part layer", "abnormal gastro-intestinal system smooth muscle contraction", - "decreased gastro-intestinal system smooth muscle contraction", - "abnormal muscle contraction", - "abnormal face morphology", - "abnormal intestine morphology", - "Neoplasm of the colon", - "abnormal hindlimb morphology", - "abnormal breast morphology", - "abnormal chest", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal breast morphology", - "Abnormality of the skin", - "Abnormality of the breast", - "Abnormality of skin pigmentation", - "abnormal chest morphology", - "Abnormality of body height", - "Abnormality of the eye", - "decreased size of the ulna", - "decreased height of the anatomical entity", - "Abnormality of the vertebral column", - "Short stature", - "decreased size of the anatomical entity", - "non-functional kidney", - "abnormal anatomical entity morphology in the pelvic complex", - "decreased height of the multicellular organism", - "Abnormality of bone marrow cell morphology", - "abnormal large intestine morphology", - "Anemia", - "abnormal cardiac valve morphology in the heart", - "Splenomegaly", - "Abnormality of the hand", - "Abnormal erythrocyte morphology", - "decreased pigmentation in skin of body", - "Abnormal finger morphology", - "abnormal erythrocyte morphology", - "abnormal outflow part of left ventricle morphology", - "abnormal internal ear", - "abnormal vestibulo-ocular reflex", - "Abnormal vestibular function", - "Nystagmus", - "Cryptorchidism", - "paralysed anatomical entity", - "Abnormal gastrointestinal motility", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "paralysed cranial nerve", - "Abnormality of the peripheral nervous system", + "vertebral element", + "decreased size of the anatomical entity in the independent continuant", + "decreased length of anatomical entity in independent continuant", + "endochondral bone", + "ganglion", + "abnormal anterior chamber of eyeball morphology", + "abnormal mouth", + "abnormal pigmentation in independent continuant", + "Abnormal oral cavity morphology (HPO)", + "abnormal incomplete closing of the ductus arteriosus", + "Clubbing (HPO)", + "shape anatomical entity", + "Abnormal axial skeleton morphology (HPO)", + "clavate digit", + "abnormal size of anatomical entity", + "lymphatic part of lymphoid system", + "Hypopigmentation of the skin (HPO)", + "Anemia (HPO)", + "Neuroectodermal neoplasm (HPO)", + "Phenotypic abnormality (HPO)", "abnormal peripheral nervous system morphology", - "Cranial nerve paralysis", - "Sideroblastic anemia", - "Abnormality of the hypothalamus-pituitary axis", - "deviation of anatomical entity", - "Visual impairment", - "deviation of manual digit towards the middle", - "deviation of manual digit 5 towards the middle", - "abnormal parasympathetic ganglion morphology", - "deviation of digit towards the middle", - "abnormal location of eyeball of camera-type eye", - "deviation of manual digit 5", - "deviation of manual digit", - "Abnormality of bone mineral density", - "decreased length of manual digit", - "aplasia or hypoplasia of manual digit", - "Short digit", - "decreased length of manual digit 1", - "Aplasia/Hypoplasia of fingers", - "Pain", - "Short thumb", - "Prostate neoplasm", - "Short finger", - "Spinal dysraphism", - "Congenital malformation of the great arteries", - "decreased pigmentation in multicellular organism", - "Hypopigmentation of the skin", - "Abnormality of the urinary system physiology", - "Hypopigmented skin patches", - "decreased multicellular organism mass", - "decreased qualitatively pigmentation", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "abnormal abdomen morphology", - "abnormal phalanx morphology", - "lymph node hyperplasia", - "Abnormal toe phalanx morphology", - "abnormal phalanx of pes morphology", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal lymph node morphology", - "Abnormal autonomic nervous system morphology", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal small intestine", - "Azoospermia", - "Abnormal small intestine morphology", + "Oligohydramnios (HPO)", + "Abnormal skeletal morphology (HPO)", + "vestibulo-auditory system", + "Abnormality of the upper urinary tract (HPO)", + "muscle system process", + "regulation of gene expression", + "ductus arteriosus", "abnormal eyelid morphology", - "Back pain", - "Abnormal peritoneum morphology", - "Neural tube defect", - "Reduced impulse control", - "Recurrent maladaptive behavior", - "Abnormality of lower limb joint", - "abnormal heart layer morphology", - "Abnormal frontal bone morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "abnormal frontal cortex morphology", - "abnormal shape of frontal cortex", - "Abnormal shape of the frontal region", - "increased qualitatively biological_process", - "Abnormal cerebral cortex morphology", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal homeostatic process", - "abnormal lymph node morphology", - "abnormal size of lymph node", - "abnormally decreased functionality of the gonad", - "Puberty and gonadal disorders", - "Male reproductive system neoplasm", - "Orofacial cleft", - "Abnormality of immune system physiology", - "abnormal enteric ganglion morphology", - "Unusual infection", - "abnormal size of anatomical entity", - "abnormal esophagus morphology", - "abnormality of renal system physiology", - "Abnormal lens morphology", - "Abnormal respiratory system morphology", - "Multiple cafe-au-lait spots", - "increased qualitatively response to stimulus", - "Hyperreflexia", - "increased reflex", - "Decreased fertility in males", - "abnormality of exocrine pancreas physiology", - "Abnormal ureter morphology", - "absent anatomical entity in the independent continuant", - "abnormal ureter", - "changed biological_process rate in independent continuant", - "abnormality of kidney physiology", - "Abnormal duodenum morphology", - "Abnormal foot morphology", - "Duodenal stenosis", - "Right ventricular hypertrophy", - "Global developmental delay", - "abnormal neural tube morphology", - "abnormal bony vertebral centrum morphology", - "Abnormal spinal cord morphology", - "non-functional anatomical entity", - "Abnormal vertebral morphology" + "abnormal liver", + "Abnormality of ganglion of peripheral nervous system (HPO)", + "abnormally fused anatomical entity and pedal digit", + "axial skeletal system", + "lower urinary tract", + "abnormal neck morphology", + "decreased qualitatively pigmentation", + "cranial skeletal system", + "anatomical collection", + "abnormal skeletal system morphology", + "compound organ", + "Short stature (HPO)", + "Upslanted palpebral fissure (HPO)", + "decreased qualitatively reproductive process", + "Ovarian neoplasm (HPO)", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "Abnormal renal morphology (HPO)", + "venous system", + "increased size of the head", + "Abnormality of the palpebral fissures (HPO)", + "constricted anatomical entity", + "Hypermelanotic macule (HPO)", + "abdomen element", + "Abnormal vascular morphology (HPO)", + "subdivision of trunk", + "respiratory tube", + "decreased pigmentation in multicellular organism", + "Abnormal ocular adnexa morphology (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "Abnormality of the lymphatic system (HPO)", + "Abnormality of the upper limb (HPO)", + "Abnormality of body weight (HPO)", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "sense organ", + "gland", + "abnormal cardiac atrium morphology in the heart", + "abnormal postcranial axial skeleton morphology", + "entity", + "systemic artery", + "abnormal skin of body", + "manual digit 5 plus metapodial segment", + "abnormal size of head", + "Abnormality of the ocular adnexa (HPO)", + "flat longitudinal arch of pes", + "Abnormality of the face (HPO)", + "increased size of the brain ventricle", + "abnormally fused digit and digit", + "Ventricular septal defect (HPO)", + "subdivision of head", + "abdominal segment of trunk", + "aplasia or hypoplasia of manual digit", + "heart left ventricle", + "tube", + "Neoplasm of the gastrointestinal tract (HPO)", + "future central nervous system", + "sloped anatomical entity", + "increased size of the liver", + "anatomical system", + "Abnormal cornea morphology (HPO)", + "concave 3-D shape anatomical entity", + "autonomic ganglion", + "naris", + "female reproductive system", + "Abnormal endocrine morphology (HPO)", + "Abscess (HPO)", + "skin of face", + "decreased qualitatively developmental process", + "sperm", + "Cardiomyopathy (HPO)", + "Abnormal cellular phenotype (HPO)", + "female organism", + "cell development", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "male reproductive system", + "phenotype", + "All (HPO)", + "abnormal size of eyeball of camera-type eye", + "Decreased multicellular organism mass", + "abnormality of digestive system physiology", + "Abnormality of the ovary (HPO)", + "decreased anatomical entity mass", + "biological regulation", + "carbon group molecular entity", + "trachea", + "Ventriculomegaly (HPO)", + "Phenotypic abnormality", + "platelet", + "skeleton", + "manual digit", + "abnormal large intestine morphology", + "main body axis" ], "has_phenotype_count": 145, "highlight": null, @@ -8095,632 +12350,1148 @@ "HP:0025023" ], "has_phenotype_label": [ - "Chromosome breakage", - "Hydronephrosis", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", - "Hypoplasia of the radius", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", - "Short stature", - "Small thenar eminence", - "Stage 5 chronic kidney disease", - "Rectal atresia" + "Chromosome breakage (HPO)", + "Hydronephrosis (HPO)", + "Absent thumb (HPO)", + "Abnormal heart morphology (HPO)", + "Anal atresia (HPO)", + "Hypoplasia of the radius (HPO)", + "Cryptorchidism (HPO)", + "Short thumb (HPO)", + "Proximal placement of thumb (HPO)", + "Renal cyst (HPO)", + "External genital hypoplasia (HPO)", + "Short stature (HPO)", + "Small thenar eminence (HPO)", + "Stage 5 chronic kidney disease (HPO)", + "Rectal atresia (HPO)" ], "has_phenotype_closure": [ - "HP:0011100", - "UPHENO:0087346", - "UPHENO:0002714", - "HP:0025023", - "HP:0012718", - "HP:0002250", - "HP:0011024", - "UPHENO:0002725", - "UPHENO:0076783", + "UBERON:0013765", "UPHENO:0063629", - "HP:0002034", - "HP:0012732", - "UPHENO:0076735", - "HP:0002589", + "NCBITaxon:33154", + "UBERON:0004921", + "UPHENO:0063632", + "UPHENO:0063639", + "UPHENO:0020717", + "UBERON:0004907", + "UBERON:0006866", + "NCBITaxon:6072", "UPHENO:0076773", + "UBERON:0000481", + "HP:0002034", "HP:0003774", "UPHENO:0002411", + "UPHENO:0002442", + "HP:0100871", + "HP:0001245", + "UPHENO:0002816", + "UBERON:0017716", + "UPHENO:0076710", + "HP:0011805", + "HP:0001421", + "NCBITaxon:131567", + "UBERON:0014793", + "UPHENO:0002649", + "UBERON:0004480", + "UBERON:0007269", + "UBERON:0001015", + "HP:0001510", + "HP:0001507", + "GO:0040007", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0080351", + "HP:0003241", + "MPATH:55", + "MPATH:603", + "MPATH:56", + "UPHENO:0002786", + "HP:0000107", + "UPHENO:0002655", + "HP:0009623", + "HP:0004097", + "UPHENO:0046411", + "UPHENO:0020795", + "HP:0011927", + "HP:0009381", + "UPHENO:0046624", + "UBERON:0005156", + "HP:0009484", + "GO:0003006", + "GO:0048609", + "GO:0000003", + "GO:0032504", + "HP:0012243", + "UPHENO:0053580", + "NCBITaxon:2759", + "UPHENO:0052178", + "UPHENO:0050101", + "HP:0000811", + "UBERON:0004175", + "UBERON:0008878", + "UBERON:0003135", + "UBERON:0003101", + "UBERON:0000383", + "CL:0000003", + "UPHENO:0002597", + "UPHENO:0050108", + "UPHENO:0002371", + "UPHENO:0000541", + "UPHENO:0003055", + "UPHENO:0002598", + "UBERON:0003133", + "UBERON:0008837", + "UPHENO:0020950", + "UPHENO:0049985", + "HP:0000027", + "UPHENO:0002599", + "HP:0011961", + "CL:0000015", + "UBERON:0013522", + "CL:0000408", + "GO:0032502", + "GO:0022414", + "UPHENO:0002595", + "HP:0000025", + "HP:0009603", + "HP:0012874", + "UPHENO:0082875", + "HP:0000022", + "UBERON:0000990", + "HP:0003011", + "UPHENO:0005597", + "UPHENO:0002378", + "UPHENO:0021284", + "CL:0000586", + "UBERON:0001353", + "GO:0007283", + "GO:0007276", + "GO:0019953", + "UBERON:0004053", + "UPHENO:0076727", + "UPHENO:0002332", + "UBERON:0000079", + "UPHENO:0078729", + "UPHENO:0021561", + "UBERON:0005913", + "UBERON:0003466", + "UPHENO:0081792", + "UPHENO:0075944", + "HP:0005773", + "UPHENO:0069294", + "UPHENO:0049970", + "UBERON:0000473", "HP:0012211", - "HP:0011277", - "UPHENO:0002442", + "HP:0001227", + "HP:0006503", + "HP:0045009", + "HP:0006501", + "UPHENO:0012541", + "CL:0000019", + "HP:0009821", + "UBERON:0003103", 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"GO:0031052", + "UBERON:0013702", + "UBERON:0002101", + "HP:0000078", + "HP:0009599", + "GO:0006325", + "UBERON:0012141", + "UPHENO:0080126", + "HP:0004322", + "GO:0010629", + "HP:0001627", + "UBERON:0005055", + "UBERON:0010741", + "NCBITaxon:33208", + "UPHENO:0075893", + "UBERON:0000323", + "HP:0001626", + "UBERON:0012354", + "UPHENO:0075159", + "UBERON:0034944", + "GO:0010605", + "RO:0002577", + "HP:0000079", + "UBERON:0000062", + "UPHENO:0065599", + "UPHENO:0020584", + "UBERON:0001062", "UPHENO:0084124", + "UBERON:0007100", + "GO:0010558", + "UBERON:8450002", + "HP:0012718", + "UPHENO:0002647", + "UBERON:0005897", + "UPHENO:0075949", + "GO:0043933", + "MPATH:1000", + "GO:0010556", + "HP:0012732", + "UBERON:0011676", + "UPHENO:0002725", + "GO:0050794", + "HP:0012622", + "UBERON:0011216", + "UBERON:0000059", + "UPHENO:0019615", "HP:0008669", - "UPHENO:0001072", - "UPHENO:0002905", - "HP:0000077", - "HP:0010944", + "HP:0000001", + "UPHENO:0076783", + "UPHENO:0075902", + 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"UPHENO:0086682", - "HP:0025033", - "HP:0025031", - "HP:0000811", - "HP:0001510", - "UPHENO:0086201", - "UPHENO:0076803", - "UPHENO:0046505", - "HP:0005773", - "UPHENO:0080114", + "UPHENO:0000543", + "UBERON:0002471", + "UPHENO:0076718", + "GO:0009987", + "UPHENO:0049873", + "HP:0025354", + "UBERON:0000463", + "UPHENO:0001003", + "BFO:0000040", + "UPHENO:0081423", + "UBERON:0010712", + "UPHENO:0001005", + "UBERON:0004489", + "HP:0001939", + "UBERON:0004121", + "HP:0006265", + "UPHENO:0081581", + "GO:0071840", + "HP:0002813", + "HP:0000035", + "GO:0031326", + "UPHENO:0015280", + "HP:0030680", + "UBERON:0006048", "UPHENO:0005433", - "UPHENO:0084132", - "UPHENO:0005651", - "UPHENO:0081313", - "HP:0002242", - "UPHENO:0076710", - "UPHENO:0081091", - "HP:0009815", - "UPHENO:0088186", - "HP:0040072", - "UPHENO:0087510", - "HP:0006501", - "UPHENO:0002751", - "UPHENO:0079872", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0000002", - "UPHENO:0081204", - "HP:0006503", - "HP:0002023", - "HP:0002818", - "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0086956", - "UPHENO:0012541", - "HP:0002973", - "UPHENO:0085874", - "UPHENO:0069294", - "UPHENO:0052778", - "HP:0011927", + "BFO:0000002", + "GO:0008152", "UPHENO:0031839", - "UPHENO:0080187", - "HP:0000812", - "HP:0009826", - "UPHENO:0046538", - "UPHENO:0068971", - "UPHENO:0020041", - "UPHENO:0086198", - "UPHENO:0049701", - "UPHENO:0049970", - "UPHENO:0087846", - "UPHENO:0075949", - "HP:0012874", - "UPHENO:0087006", - "HP:0011961", - "UPHENO:0052178", - "HP:0000025", - "HP:0010461", - "HP:0009380", - "UPHENO:0002378", - "UPHENO:0087973", - "HP:0000035", - "HP:0012622", - "HP:0000078", - "UPHENO:0020950", - "UPHENO:0087802", - "HP:0100871", - "UPHENO:0087427", - "UPHENO:0002332", - "HP:0010946", - "UPHENO:0080382", - "UPHENO:0085873", - "UPHENO:0081755", - "HP:0012243", - "UPHENO:0082875", - "UPHENO:0046707", - "HP:0000080", - "UPHENO:0085194", - "HP:0004097", - "HP:0000126", - "UPHENO:0081792", - "UPHENO:0005597", - "UPHENO:0002598", - "UPHENO:0050101", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0080369", - "UPHENO:0086023", - "HP:0006496", - "HP:0009778", - "HP:0009623", - "UPHENO:0050108", - "HP:0000107", - "HP:0001446", - "UPHENO:0084841", - "HP:0009484", - "UPHENO:0002880", - "UPHENO:0075159", - "UPHENO:0049874", - "HP:0001627", - "UPHENO:0080325", + "GO:0071824", "UPHENO:0002642", - "UPHENO:0081423", - "HP:0034057", - "UPHENO:0081424" + "GO:0005623", + "GO:0009889", + "UPHENO:0076723", + "CL:0000000", + "UBERON:0012151", + "MPATH:0", + "UBERON:0007272", + "BFO:0000001", + "UPHENO:0081466", + "UPHENO:0076703", + "GO:0019222", + "GO:0031324", + "UBERON:0015212", + "HP:0000028", + "GO:0031049", + "HP:0009115", + "GO:0048523", + "UPHENO:0020832", + "UBERON:0010000", + "UBERON:0011584", + "UPHENO:0063565", + "UBERON:0004375", + "HP:0000083", + "GO:0031327", + "UBERON:0000489", + "UBERON:0000468", + "UPHENO:0080079", + "BFO:0000015", + "GO:0060255", + "UBERON:0000061", + "UPHENO:0080187", + "UPHENO:0020651", + "UBERON:0004054", + "HP:0009127", + "UPHENO:0020220", + "UBERON:0012361", + "UBERON:0000915", + "UBERON:0011582", + "UPHENO:0049700", + "UBERON:0000475" ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "Rectal atresia", - "Morphological abnormality of the gastrointestinal tract", - "alimentary part of gastrointestinal system atresia", - "abnormal alimentary part of gastrointestinal system", - "Anorectal anomaly", - "Abnormality of the gastrointestinal tract", + "digestive system element", + "Rectal atresia (HPO)", + "Abnormal large intestine morphology (HPO)", + "abnormal intestine morphology", + "subdivision of tube", + "internal anal region", + "lower digestive tract", + "intestine", + "terminal part of digestive tract", + "large intestine", + "Gastrointestinal atresia (HPO)", + "organism", "rectum atresia", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal rectum", - "Intestinal atresia", - "non-functional kidney", - "abnormality of kidney physiology", - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "Chronic kidney disease", - "Renal insufficiency", - "Small thenar eminence", - "Abnormality of the thenar eminence", - "thenar eminence hypoplasia", - "Abnormality of the musculature of the upper limbs", + "abnormal rectum morphology", + "Eukaryota", + "alimentary part of gastrointestinal system atresia", + "intestine atresia", + "root", + "Renal insufficiency (HPO)", + "Abnormal renal physiology (HPO)", + "abnormal large intestine morphology", + "Abnormality of the urinary system physiology (HPO)", + "Chronic kidney disease (HPO)", + "muscle organ", + "abnormal muscle organ morphology", + "Abnormal rectum morphology (HPO)", "abnormal musculature of upper limb", - "abnormal musculature", - "Abnormality of the musculature of the hand", + "musculature", + "musculature of body", + "external soft tissue zone", "abnormal musculature of limb", - "Abnormality of the musculature of the limbs", - "Abnormal palm morphology", - "Abnormality of the digestive system", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal digit morphology", - "absent anatomical entity", - "decreased length of manual digit", - "abnormal cellular process", - "abnormal palmar part of manus morphology", - "Growth abnormality", - "abnormal skeletal system", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "aplastic anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal manus", - "Abnormality of the musculature", - "abnormal digit", - "abnormal organelle organization", - "Abnormality of limb bone", - "abnormal cardiovascular system morphology", + "musculature of limb", + "pectoral appendage musculature", + "abnormal anatomical entity morphology in the palmar part of manus", + "abnormal musculature", + "palmar part of manus", + "palmar/plantar part of autopod", + "Abnormality of the palm (HPO)", + "abnormal palmar part of manus", + "Abnormal skeletal muscle morphology (HPO)", + "muscle structure", + "Small thenar eminence (HPO)", + "thenar eminence hypoplasia", + "Abnormality of the musculature of the limbs (HPO)", + "Abnormality of the musculature (HPO)", + "abnormal musculature of manus", + "decreased height of the multicellular organism", + "abnormal size of multicellular organism", + "delayed biological_process", + "growth", + "decreased size of the multicellular organism", + "Short stature (HPO)", + "abnormality of anatomical entity height", + "delayed growth", "abnormality of multicellular organism height", - "forelimb zeugopod bone hypoplasia", - "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "absent anatomical entity in the forelimb", - "abnormal arm", - "aplasia or hypoplasia of anatomical entity", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "agenesis of anatomical entity", - "decreased developmental process", - "Abnormal thumb morphology", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal intestine morphology", - "aplastic manual digit 1", + "External genital hypoplasia (HPO)", + "pathological phenotype observation", + "Deviation of finger (HPO)", + "Deviation of the thumb (HPO)", + "Deviation of the hand or of fingers of the hand (HPO)", + "Proximal placement of thumb (HPO)", + "anal region", + "Short finger (HPO)", + "decreased length of digit", + "Short thumb (HPO)", + "decreased length of manual digit 1", + "male organism", + "native cell", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "Abnormality of the genital system (HPO)", "decreased qualitatively reproductive process", - "abnormal number of anatomical enitites of type anatomical entity", - "absent gamete", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal limb bone", - "increased size of the anatomical entity", - "bone element hypoplasia in independent continuant", - "Abnormality of the upper limb", + "decreased qualitatively biological_process", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "gamete generation", + "sexual reproduction", + "Renal cyst (HPO)", + "external male genitalia", + "germ line cell", + "Abnormal testis morphology (HPO)", + "abnormal developmental process", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "reproductive process", + "multicellular organismal process", + "external genitalia", + "abnormal reproductive system morphology", + "abnormality of kidney physiology", + "decreased biological_process", + "abnormal male reproductive organ morphology", + "semen", + "organism substance", + "abnormally localised anatomical entity", + "decreased developmental process", + "abnormal location of anatomical entity", + "Abnormality of the musculature of the upper limbs (HPO)", + "Cryptorchidism (HPO)", + "abnormal internal genitalia", + "reproductive organ", + "abnormality of reproductive system physiology", + "abnormal developmental process involved in reproduction", + "Abnormality of the kidney (HPO)", + "Abnormal external genitalia (HPO)", + "multicellular organismal reproductive process", + "musculoskeletal system", + "abnormally localised anatomical entity in independent continuant", + "absent epiphysis of phalanx of manus in the independent continuant", + "abnormality of anatomical entity physiology", + "manual digit bone", + "decreased spermatogenesis", + "abnormal gamete generation", + "abnormality of internal male genitalia physiology", + "reproductive system", + "abnormal testis morphology", + "anatomical entity hypoplasia", + "decreased size of the anatomical entity in the pectoral complex", + "abnormal radius bone morphology", + "sperm", + "Dilatation of the renal pelvis (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Abnormal forearm bone morphology (HPO)", + "Abnormality of forearm bone (HPO)", + "decreased length of forelimb zeugopod bone", + "Abnormality of the forearm (HPO)", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", + "zeugopod", + "Growth abnormality (HPO)", + "radius bone hypoplasia", + "arm bone", + "radius bone", + "abnormal long bone morphology", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "forelimb zeugopod bone hypoplasia", + "abnormal digestive system morphology", + "decreased length of anatomical entity", + "Abnormal intestine morphology (HPO)", + "tube", + "anus", + "abdomen", + "anus atresia", + "alimentary part of gastrointestinal system", + "digestive system", + "material entity", + "abnormal closing of the anatomical entity", + "anatomical entity atresia", + "abnormal alimentary part of gastrointestinal system morphology", + "Anorectal anomaly (HPO)", + "abnormal anus morphology", + "subdivision of skeletal system", + "Aplasia of the fingers (HPO)", + "circulatory system", + "Abnormality of the cardiovascular system (HPO)", + "structure with developmental contribution from neural crest", + "cardiovascular system", + "abnormal cardiovascular system morphology", + "late embryo", + "abnormal external male genitalia", + "digestive tract", + "circulatory organ", + "primary circulatory organ", + "viscus", + "Fetal anomaly (HPO)", + "thoracic segment of trunk", + "abnormal cardiovascular system", + "Abnormality of the musculature of the hand (HPO)", + "skeletal element", + "abnormal DNA metabolic process", + "forelimb", + "abnormal anatomical entity morphology in the skeleton of manus", + "autopodial skeleton", + "decreased size of the anatomical entity in the independent continuant", + "bone of free limb or fin", + "abnormal kidney", + "acropodial skeleton", + "abnormal arm", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "abnormal bone of pectoral complex morphology", + "Abnormal fetal morphology (HPO)", + "system", + "Abnormal hand morphology (HPO)", + "abnormal thenar eminence", + "trunk region element", + "pectoral complex", + "digit 1 or 5", + "absent manual digit", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "changed developmental process rate", + "manual digitopodium region", + "reproductive structure", + "male reproductive organ", + "manual digit 1 or 5", + "abnormal reproductive system", + "absent epiphysis of phalanx of manus in the phalanx of manus", + "aplasia or hypoplasia of manual digit", + "pectoral appendage skeleton", + "Abnormal morphology of the radius (HPO)", + "abnormal epiphysis morphology in the independent continuant", + "phenotype", "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "anatomical entity hypoplasia", - "abnormal manual digit morphology in the independent continuant", + "subdivision of digestive tract", + "abnormal digestive system", + "abnormal manus", + "absent anatomical entity in the phalanx of manus", + "abnormality of male reproductive system physiology", + "zone of long bone", + "arm", + "long bone", + "anatomical entity hypoplasia in independent continuant", + "bone of appendage girdle complex", + "manual digit 1 plus metapodial segment", + "manual digit", + "skeleton of limb", + "abnormal forelimb zeugopod bone morphology", + "forelimb endochondral element", + "male reproductive system", + "limb bone", + "gonad", + "digit 1 digitopodial skeleton", + "Abnormality of the digestive system (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "decreased length of manual digit", + "Abnormality of the gastrointestinal tract (HPO)", + "epiphysis of phalanx of manus", + "chromatin remodeling", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of the thenar eminence (HPO)", + "abnormal digit", + "Absent epiphyses of the phalanges of the hand (HPO)", + "Abnormality of limbs (HPO)", + "reproduction", + "manus", + "rectum", + "abnormal cellular metabolic process", + "acropodium region", + "digitopodium region", + "Abnormal reproductive system morphology (HPO)", + "endochondral element", + "bone element", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal forelimb zeugopod", + "Abnormality of reproductive system physiology (HPO)", + "abnormal limb bone morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "zone of organ", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", + "abnormal phalanx morphology", "aplasia or hypoplasia of skeleton", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", + "heart", + "upper limb segment", + "decreased size of the anatomical entity", + "cavitated compound organ", + "Abnormal heart morphology (HPO)", + "Abnormality of limb epiphysis morphology (HPO)", + "compound organ", + "autopod region", + "radius endochondral element", + "trunk", + "digit 1 plus metapodial segment", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "renal pelvis", + "anterior region of body", + "absent anatomical entity in the multicellular organism", + "Abnormal appendicular skeleton morphology (HPO)", + "abnormal anus", + "abnormal anatomical entity morphology in the manus", + "mesoderm-derived structure", + "Abnormality of the upper limb (HPO)", + "paired limb/fin skeleton", + "Abnormal skeletal morphology (HPO)", + "abnormal radius bone", + "Abnormal digit morphology (HPO)", + "digit plus metapodial segment", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", + "manual digit 1 digitopodial skeleton", + "manual digit plus metapodial segment", + "Abnormal upper limb bone morphology (HPO)", + "phalanx endochondral element", + "limb skeleton subdivision", + "obsolete cell", + "epiphysis", + "appendage musculature", "abnormally dilated anatomical entity", - "abnormal metabolic process", - "Abnormality of the genital system", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "abnormal spermatogenesis", - "phenotype", + "digit 1", + "forelimb bone", + "male gamete generation", + "zeugopodial skeleton", + "Abnormality of limb bone (HPO)", + "abnormal anatomical entity", + "paired limb/fin", + "abnormal phalanx of manus morphology", + "aplastic anatomical entity", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the hand (HPO)", + "abdominal segment element", "absent digit", - "abnormal male reproductive system morphology", - "abnormal cell", - "abnormal limb bone morphology", - "abnormal testis morphology", - "aplasia or hypoplasia of manual digit 1", - "entity", - "Absent thumb", - "abnormal autopod region morphology", - "decreased height of the multicellular organism", - "Short long bone", "abnormal renal pelvis", + "Abnormality of digestive system morphology (HPO)", + "upper urinary tract", + "skeletal system", + "chromatin organization", + "manual digit 1 phalanx", + "abnormal multicellular organismal reproductive process", + "Abnormality of chromosome stability (HPO)", + "manual digit 1 phalanx endochondral element", + "abnormal manus morphology", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "cell", + "phenotype by ontology source", + "forelimb long bone", + "heart plus pericardium", + "skeleton", + "manus bone", + "embryo", + "appendage", + "Abnormality of cardiovascular system morphology (HPO)", "abnormality of renal system physiology", - "quality", - "Abnormal renal pelvis morphology", - "Abnormality of prenatal development or birth", - "decreased length of long bone", - "absent anatomical entity in the multicellular organism", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal anatomical entity morphology in the palmar part of manus", - "absent manual digit", + "organism subdivision", + "programmed DNA elimination by chromosome breakage", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Fetal ultrasound soft marker (HPO)", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "musculature of upper limb", + "anatomical collection", + "skeleton of manual digitopodium", + "internal male genitalia", + "occurrent", + "manual digitopodium bone", + "abnormal skeletal system morphology", + "absent anatomical entity in the independent continuant", + "absent manual digit 1", + "subdivision of organism along appendicular axis", + "thenar eminence", + "pectoral appendage", + "male germ cell", + "lateral structure", + "limb", + "Opisthokonta", + "Abnormality of prenatal development or birth (HPO)", + "abnormal manual digit 1 morphology", + "autopod bone", + "autopod endochondral element", + "phalanx of manus", + "decreased length of anatomical entity in independent continuant", + "endochondral bone", + "absent epiphysis in the independent continuant", + "multi-limb segment region", + "musculature of manus", + "material anatomical entity", + "abnormal epiphysis morphology in the skeleton of manus", + "absent epiphysis", + "Growth delay (HPO)", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "Abnormality of the anus (HPO)", + "abnormal limb bone", + "Intestinal atresia (HPO)", + "Abnormality of the upper urinary tract (HPO)", + "Abnormal thumb morphology (HPO)", + "abnormal cellular component organization", + "appendicular skeletal system", + "abnormal epiphysis of phalanx of manus morphology", + "renal pelvis/ureter", + "increased size of the anatomical entity", + "Hypoplasia of the radius (HPO)", + "musculature of pectoral complex", + "abnormal spermatogenesis", + "germ cell", + "segment of manus", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "developmental process involved in reproduction", + "abnormal multicellular organism morphology", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "negative regulation of gene expression", + "anatomical entity", + "Upper limb undergrowth (HPO)", + "skeleton of pectoral complex", + "skeleton of digitopodium", + "subdivision of trunk", + "abdomen element", + "gamete", + "Abnormal renal pelvis morphology (HPO)", + "organ part", + "aplasia or hypoplasia of manual digit 1", + "skeleton of manus", + "anatomical conduit", + "Absent epiphyses of the thumb (HPO)", + "biological_process", + "protein-containing material entity", + "subdivision of skeleton", + "increased size of the anatomical entity in independent continuant", + "thoracic cavity element", + "Abnormal fetal genitourinary system morphology (HPO)", "abnormal phenotype by ontology source", - "deviation of manual digit", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", + "decreased size of the radius bone", + "multicellular anatomical structure", + "phalanx", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", + "Absent thumb (HPO)", + "abnormal late embryo", + "quality", + "forelimb zeugopod bone", + "regulation of cellular process", + "Hydronephrosis (HPO)", + "internal genitalia", + "anatomical cluster", + "Short long bone (HPO)", + "disconnected anatomical group", + "individual digit of digitopodial skeleton", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "Abnormality of thumb epiphysis (HPO)", + "abnormal kidney morphology", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "Abnormal renal morphology (HPO)", + "body proper", + "subdivision of organism along main body axis", + "orifice", + "Short forearm (HPO)", "changed biological_process rate", - "absent germ cell", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "Upper limb undergrowth", - "Abnormal long bone morphology", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", + "abnormal metabolic process", "abnormal renal pelvis morphology", - "Abnormal fetal morphology", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the urinary system", - "abnormal digestive system morphology", + "negative regulation of biosynthetic process", + "cellular organisms", + "aplasia or hypoplasia of radius bone", + "main body axis", + "paired limb/fin segment", + "regulation of macromolecule metabolic process", "continuant", - "Azoospermia", - "Abnormality of digestive system morphology", - "abnormal limb", - "abnormal muscle organ morphology", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "Abnormal renal morphology", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal biological_process", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal manus morphology", - "All", - "Abnormal upper limb bone morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "intestine atresia", - "Proximal placement of thumb", - "Fetal pyelectasis", - "Abnormal cellular physiology", - "Abnormality of chromosome stability", - "abnormal kidney", - "Neoplasm", - "Anal atresia", - "Cryptorchidism", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "Abnormal finger morphology", - "Aplasia of the fingers", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "abnormal heart morphology", - "abnormal upper urinary tract", - "Fetal ultrasound soft marker", - "abnormal appendicular skeleton morphology", - "abnormal renal system morphology", - "Abnormal large intestine morphology", + "aplastic manual digit 1", + "absent anatomical entity in the skeletal system", + "abnormal rectum", + "Short digit (HPO)", + "abnormal limb long bone morphology", + "decreased length of long bone", + "Abnormal cellular physiology (HPO)", "specifically dependent continuant", + "bone of pectoral complex", + "abnormal upper urinary tract", + "male gamete", + "ectoderm-derived structure", + "Limb undergrowth (HPO)", + "epiphysis of phalanx", + "Abnormality of metabolism/homeostasis (HPO)", + "abnormal digit morphology", + "Phenotypic abnormality", + "cellular component organization or biogenesis", + "bone element hypoplasia in independent continuant", "abnormal anatomical entity morphology", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal genitourinary system", - "abnormal late embryo", + "multi-tissue structure", + "abnormal biological_process", + "negative regulation of macromolecule metabolic process", + "organ system subdivision", + "Phenotypic abnormality (HPO)", + "process", + "absent anatomical entity", + "abnormally dilated renal pelvis", + "organ", + "protein-DNA complex organization", + "abnormal growth", + "Abnormal internal genitalia (HPO)", "increased size of the renal pelvis", - "abnormal closing of the anatomical entity", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal anus", - "Dilatation of the renal pelvis", - "anus atresia", - "Abnormality of the anus", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "appendage girdle complex", + "kidney", + "regulation of cellular biosynthetic process", + "limb endochondral element", + "Abnormal spermatogenesis (HPO)", + "Forearm undergrowth (HPO)", + "regulation of gene expression", + "Stage 5 chronic kidney disease (HPO)", + "absent anatomical entity in the forelimb", + "appendicular skeleton", + "abnormal alimentary part of gastrointestinal system", + "aplasia or hypoplasia of anatomical entity", + "anatomical system", + "All (HPO)", "abnormal external genitalia", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "Hydronephrosis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Limb undergrowth", - "decreased length of anatomical entity in independent continuant", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "abnormal radius bone morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "anatomical entity hypoplasia in independent continuant", + "abnormal heart morphology", + "limb long bone", + "regulation of metabolic process", + "skeleton of manual acropodium", + "excretory system", + "negative regulation of cellular process", + "absent anatomical entity in the limb", + "zone of bone organ", + "forelimb skeleton", + "Abnormality of the musculoskeletal system (HPO)", + "Metazoa", + "multicellular organism reproduction", + "negative regulation of cellular metabolic process", + "entity", + "epigenetic regulation of gene expression", + "abnormal renal system", + "Functional abnormality of male internal genitalia (HPO)", + "multicellular organism", + "manual digit 1", + "cellular process", + "Chromosome breakage (HPO)", + "abnormal size of anatomical entity", + "abnormal limb", + "digit", + "abdominal segment of trunk", + "autopodial extension", + "regulation of biological process", + "abnormal programmed DNA elimination by chromosome breakage", + "metabolic process", + "Aplasia/Hypoplasia of the thumb (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "negative regulation of macromolecule biosynthetic process", "abnormally localised testis", - "Abnormality of male external genitalia", - "absent anatomical entity in the semen", - "abnormal male reproductive organ morphology", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "Abnormal internal genitalia", - "decreased qualitatively developmental process", - "abnormal reproductive process", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "Non-obstructive azoospermia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "Fetal anomaly", - "abnormal external male genitalia", - "abnormal reproductive system", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormality of internal male genitalia physiology", "abnormal male reproductive system", - "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type cell", - "Short digit", - "abnormal manual digit 1 morphology", - "Short thumb", - "Short finger", - "decreased length of digit", - "Deviation of finger", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", - "decreased size of the multicellular organism", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "Short stature", - "abnormal cardiovascular system", - "delayed growth", - "abnormality of anatomical entity height", - "abnormal growth", - "Abnormal rectum morphology", - "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus" + "independent continuant", + "forelimb zeugopod skeleton", + "Abnormality of epiphysis morphology (HPO)", + "anatomical structure", + "regulation of biosynthetic process", + "abnormal cellular process", + "renal system", + "Anal atresia (HPO)", + "Fetal pyelectasis (HPO)", + "Abnormality of upper limb epiphysis morphology (HPO)", + "Abnormal cellular phenotype (HPO)", + "Abnormality of limb bone morphology (HPO)", + "negative regulation of metabolic process", + "thoracic segment organ", + "protein-containing complex organization", + "cellular component organization", + "testis", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "negative regulation of biological process", + "agenesis of anatomical entity" ], "has_phenotype_count": 15, "highlight": null, @@ -8758,865 +13529,1447 @@ "has_phenotype": [ "HP:0009777", "HP:0000957", - "HP:0002860", "HP:0000252", + "HP:0002984", "HP:0000581", "HP:0001510", - "HP:0002984", - "HP:0004322", + "HP:0001876", "HP:0000347", - "HP:0000028", "HP:0009778", - "HP:0000125", "HP:0000414", + "HP:0001903", "HP:0012745", "HP:0000085", + "HP:0003221", + "HP:0004322", "HP:0000365", - "HP:0001045", - "HP:0001876", - "HP:0001903", - "HP:0003221" + "HP:0000028", + "HP:0000125", + "HP:0002860", + "HP:0001045" ], "has_phenotype_label": [ - "Absent thumb", - "Cafe-au-lait spot", - "Squamous cell carcinoma", - "Microcephaly", - "Blepharophimosis", - "Growth delay", - "Hypoplasia of the radius", - "Short stature", - "Micrognathia", - "Cryptorchidism", - "Short thumb", - "Pelvic kidney", - "Bulbous nose", - "Short palpebral fissure", - "Horseshoe kidney", - "Hearing impairment", - "Vitiligo", - "Pancytopenia", - "Anemia", - "Chromosomal breakage induced by crosslinking agents" + "Absent thumb (HPO)", + "Cafe-au-lait spot (HPO)", + "Microcephaly (HPO)", + "Hypoplasia of the radius (HPO)", + "Blepharophimosis (HPO)", + "Growth delay (HPO)", + "Pancytopenia (HPO)", + "Micrognathia (HPO)", + "Short thumb (HPO)", + "Bulbous nose (HPO)", + "Anemia (HPO)", + "Short palpebral fissure (HPO)", + "Horseshoe kidney (HPO)", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "Short stature (HPO)", + "Hearing impairment (HPO)", + "Cryptorchidism (HPO)", + "Pelvic kidney (HPO)", + "Squamous cell carcinoma (HPO)", + "Vitiligo (HPO)" ], "has_phenotype_closure": [ - "UPHENO:0050116", - "HP:0001939", - "HP:0011017", - "UPHENO:0050021", - "UPHENO:0049990", - "HP:0003220", - "UPHENO:0049748", - "UPHENO:0050113", - "HP:0003221", - "HP:0012130", - "HP:0001877", - "HP:0001903", - 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"UPHENO:0000543", - "HP:0005105", - "UPHENO:0000541", - "HP:0000366", - "HP:0005773", + "UBERON:0006058", + "HP:0000077", + "UBERON:0002371", "UPHENO:0080114", - "UPHENO:0005433", - "UPHENO:0005597", - "UPHENO:0081792", - "HP:0011314", - "UPHENO:0085118", - "UPHENO:0012274", - "UPHENO:0081313", - "UPHENO:0079872", - "UPHENO:0002751", - "UPHENO:0081091", - "UPHENO:0087510", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0000002", - "HP:0009821", - "HP:0025354", - "HP:0006503", - "HP:0002818", - "UPHENO:0088166", - "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0086956", - "HP:0002973", - "HP:0011121", - "UPHENO:0069294", - "UPHENO:0046538", - "UPHENO:0082444", + "UBERON:0001474", + "UBERON:0010912", + "UPHENO:0049701", + "UPHENO:0053298", + "HP:0001877", + "UPHENO:0011498", + "HP:0011844", + "HP:0000414", + "HP:0045025", + "UBERON:0034921", + "HP:0008069", + "UPHENO:0069254", + "UBERON:0008785", + "UBERON:0004710", + "UPHENO:0076692", + "UBERON:0002113", + "UBERON:0015021", + "UBERON:5102544", + "UPHENO:0080200", + "HP:0011873", + "HP:0005930", + "UPHENO:0075696", + "HP:0006505", + "HP:0002813", + "UBERON:0005944", + "HP:0000125", + "UPHENO:0008668", + "HP:0000080", + "HP:0010228", + "PR:000050567", "UPHENO:0020041", - "UPHENO:0086198", - "HP:0100547", - "UPHENO:0002880", + "HP:0045060", + "HP:0009824", + "HP:0040068", + "UBERON:0002104", + "HP:0003221", + "BFO:0000004", + "UBERON:0012139", + "UBERON:0000481", + "UBERON:0012475", + "UPHENO:0027319", + "UBERON:0004765", + "UBERON:0005177", + "UBERON:0002529", + "GO:0040007", + "GO:0065007", + "UBERON:0010543", + "UPHENO:0002833", + "UBERON:0010707", + "UBERON:0004381", + "UBERON:0012140", + "UPHENO:0002598", + "CL:0000151", + "HP:0011297", + "GO:0032501", + "UBERON:0005451", + "HP:0001155", + "UBERON:0012151", + "UBERON:0001434", + "UPHENO:0002536", + "UBERON:0005172", + "UPHENO:0027467", + "UBERON:0007272", + "BFO:0000001", + "UBERON:0002616", + "BFO:0000003", + "UPHENO:0026181", + "UBERON:0000004", + "UPHENO:0026183", + "NCBITaxon:33208", + "UPHENO:0027515", + "UBERON:0004088", + "UBERON:0000061", + "HP:0009380", + "UBERON:0000465", + "UBERON:0001440", + "UBERON:0001062", + "UPHENO:0081423", + "UBERON:0010712", + "UBERON:0010538", + "UPHENO:0041226", + "UPHENO:0046707", + "UBERON:0001555", + "UPHENO:0026506", + "UPHENO:0002635", + "UPHENO:0076723", + "UBERON:0002268", + "UBERON:0005897", + "UBERON:5102389", + "UBERON:0003620", + "UBERON:0002101", + "UPHENO:0054567", + "BFO:0000040", + "UPHENO:0080099", + "CL:0000233", + "HP:0000028", + "UBERON:0015212", + "UPHENO:0002903", + "UPHENO:0002332", + "UPHENO:0076727", + "UBERON:0001442", + "UBERON:0010740", + "UBERON:0003462", + "UBERON:0001423", + "UBERON:0000153", + "UBERON:0002513", + "UBERON:0007811", + "UPHENO:0080187", + "UPHENO:0020651", + "HP:0002692", + "HP:0000001", + "UBERON:0000475", + "UPHENO:0001001", + "UBERON:0010741", + "UBERON:0005055", + "BFO:0000020", + "HP:0000085", + "UBERON:0019221", + "UPHENO:0034770", + "UBERON:0012150", + "UBERON:0012354", "UPHENO:0075159", - "UPHENO:0002642", - "UPHENO:0080325", - "UPHENO:0081423", - "UPHENO:0002833", - "HP:0004322", - "HP:0031816", - "UPHENO:0076800", - "UPHENO:0081141", - "HP:0000951", - "UPHENO:0084457", - "HP:0000581", - "UPHENO:0002828", - "UPHENO:0080351", - "HP:0009122", - "UPHENO:0080087", - "UPHENO:0069249", + "UBERON:0034944", + "UBERON:0010313", + "HP:0040064", + "HP:0009115", + "UBERON:0004175", + "UPHENO:0074584", + "UBERON:0010000", + "UPHENO:0018390", + "UBERON:0010708", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0001460", + "UPHENO:0075195", + "GO:0048232", + "UPHENO:0081204", + "HP:0012130", + "UBERON:0005881", "HP:0000492", - "UPHENO:0086595", - "UPHENO:0050121", - "UPHENO:0074572", - "HP:0002692", - "HP:0000347", - "HP:0025031", - "HP:0000811", - "UPHENO:0076803", - "HP:0000035", - "UPHENO:0087973", - "HP:0000028", - "UPHENO:0049701", - "UPHENO:0085144", - "UPHENO:0041075", - "UPHENO:0050108", - "UPHENO:0049970", - "UPHENO:0087846", - "UPHENO:0087006", - "HP:0011961", - "UPHENO:0002240", + "UPHENO:0081466", + "UPHENO:0076703", + "HP:0000032", + "UBERON:0004288", + "UBERON:0000467", + "UPHENO:0002880", + "HP:0011314", + "UPHENO:0002844", + "UPHENO:0053644", + "HP:0009601", + "HP:0000364", + "UPHENO:0020832", + "UBERON:0002091", + "UBERON:0003460", + "UBERON:0004742", + "UBERON:0004387", + "NCBITaxon:131567", + "UBERON:0000479", + "UPHENO:0027575", + "UBERON:0011159", + "UBERON:0011216", + "UBERON:0008962", + "UPHENO:0003085", + "CL:0000988", + "HP:0001167", + "UPHENO:0002905", + "UPHENO:0049990", + "UPHENO:0084446", + "HP:0002817", + "UBERON:0034925", + "CL:0000255", + "HP:0000002", + "HP:0011842", + "UPHENO:0015280", + "HP:0000581", + "HP:0000252", + "UBERON:0012141", + "UPHENO:0080126", + "UPHENO:0001002", + "UPHENO:0078606", + "UPHENO:0002896", + "BFO:0000015", + "UPHENO:0080079", + "UBERON:5001463", "UPHENO:0052178", - "HP:0000025" + "NCBITaxon:2759", + "UPHENO:0050625", + "UPHENO:0074589", + "UBERON:0000468" ], "has_phenotype_closure_label": [ - "abnormal cellular process", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "abnormal erythrocyte morphology", - "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal hematopoietic system", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "Abnormal leukocyte count", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "Pancytopenia", - "abnormal platelet", - "Anemia", - "abnormal bone marrow cell", - "Vitiligo", - "Abnormal platelet count", + "Neoplasm of the skin (HPO)", + "Ectopic kidney (HPO)", + "male organism", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "Abnormality of the genital system (HPO)", + "decreased qualitatively reproductive process", + "abnormal internal male genitalia", + "Non-obstructive azoospermia (HPO)", + "Abnormality of the male genitalia (HPO)", + "haploid cell", + "external male genitalia", + "Abnormal testis morphology (HPO)", + "abnormal developmental process", + "Abnormal male reproductive system physiology (HPO)", + "developmental process", + "external genitalia", + "internal genitalia", + "abnormal reproductive system morphology", + "semen", + "decreased developmental process", + "abnormal external genitalia", + "abnormal location of anatomical entity", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal developmental process involved in reproduction", + "abnormally localised testis", + "changed developmental process rate", + "abnormal male reproductive system", + "abnormal gamete generation", + "abnormality of internal male genitalia physiology", + "decreased qualitatively biological_process", + "reproductive system", + "abnormal testis morphology", "abnormal sensory perception of sound", - "Hearing impairment", - "Hearing abnormality", - "Abnormality of the ear", - "Abnormal myeloid cell morphology", - "Abnormal ear physiology", + "Abnormal ear physiology (HPO)", + "sensory perception of mechanical stimulus", + "multicellular organismal process", "abnormality of ear physiology", + "decreased sensory perception of sound", + "Hearing impairment (HPO)", + "ear", + "system process", + "abnormal size of multicellular organism", + "decreased size of the multicellular organism", + "abnormality of anatomical entity height", + "Vitiligo (HPO)", + "abnormality of multicellular organism height", + "Abnormal cellular physiology (HPO)", + "Abnormality of metabolism/homeostasis (HPO)", + "regulation of cellular biosynthetic process", + "negative regulation of biosynthetic process", + "negative regulation of cellular metabolic process", + "regulation of metabolic process", + "regulation of cellular process", + "negative regulation of biological process", + "abnormally localised kidney", + "epigenetic regulation of gene expression", + "negative regulation of gene expression", + "metabolic process", + "cellular process", + "abnormal programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "negative regulation of macromolecule biosynthetic process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "protein-containing complex organization", + "cellular component organization", + "regulation of biological process", + "Abnormal external genitalia (HPO)", + "Abnormality of the kidney (HPO)", + "programmed DNA elimination", + "Abnormality of the genitourinary system (HPO)", + "biological regulation", + "Abnormality of the urinary system (HPO)", + "renal system", + "excretory system", + "Abnormality of male external genitalia (HPO)", + "abnormal genitourinary system", + "concave 3-D shape anatomical entity", "shape anatomical entity in independent continuant", - "U-shaped kidney", - "3-D shape anatomical entity", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", + "cavitated compound organ", + "abnormal ear", + "abdominal segment element", "shape kidney", - "3-D shape anatomical entity in independent continuant", - "U-shaped anatomical entity", - "concave 3-D shape anatomical entity", - "shape anatomical entity", - "increased size of the anatomical entity in independent continuant", - "Abnormal external nose morphology", - "abnormally increased volume of anatomical entity", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "Bulbous nose", - "Abnormality of the nose", - "Abnormality of the urinary system", - "abnormally localised kidney", - "Abnormality of the kidney", - "abnormal renal system morphology", + "abdomen", + "abnormal kidney morphology", "abnormal upper urinary tract", - "Ectopic kidney", + "kidney", "abnormal renal system", - "Abnormal cellular physiology", - "Pelvic kidney", + "Abnormality of the nose (HPO)", + "increased size of the anatomical entity", + "negative regulation of macromolecule metabolic process", + "abnormally increased volume of nose", + "Abnormal nasal morphology (HPO)", + "abnormal multicellular organismal reproductive process", + "Abnormality of chromosome stability (HPO)", + "anatomical point", + "external soft tissue zone", + "Abnormality of the nasal tip (HPO)", + "abnormal cellular process", + "olfactory organ", + "abnormal nose tip", + "abnormally increased volume of anatomical entity", + "Bulbous nose (HPO)", + "nose", + "Squamous cell carcinoma (HPO)", + "decreased length of manual digit", "decreased length of digit", - "Short finger", + "Short thumb (HPO)", + "Abnormality of the external nose (HPO)", "decreased length of manual digit 1", - "Short digit", - "decreased length of manual digit", - "Abnormal immune system morphology", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type cell", - "abnormal genitourinary system", - "decreased developmental process", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormal developmental process involved in reproduction", - "Abnormal external genitalia", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "abnormally localised anatomical entity", - "abnormal multicellular organismal reproductive process", - "Abnormal male reproductive system physiology", - "abnormal cell", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal male reproductive system", - "abnormality of internal male genitalia physiology", - "abnormal spermatogenesis", - "Abnormal testis morphology", - "Cryptorchidism", - "Abnormal skull morphology", - "Abnormality of brain morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplasia or hypoplasia of telencephalon", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", - "abnormal nervous system", - "Neoplasm", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormality of thrombocytes", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Decreased head circumference", - "delayed growth", - "Aplasia/Hypoplasia of the cerebrum", - "Neoplasm of the skin", - "Squamous cell carcinoma", - "abnormal biological_process in independent continuant", - "Abnormality of the nervous system", - "Abnormality of skin pigmentation", + "tube", + "digestive system element", + "Abnormality of the digestive system (HPO)", + "dermal bone", + "jaw skeleton", + "facial bone", + "Chromosome breakage (HPO)", + "aplasia or hypoplasia of skull", + "subdivision of tube", + "digestive system", + "Neoplasm (HPO)", + "Pelvic kidney (HPO)", + "anatomical entity hypoplasia in face", + "mouth", + "bone of lower jaw", + "primary subdivision of skull", + "abnormal external male genitalia", + "digestive tract", + "head bone", + "bone element hypoplasia in face", + "abnormal digestive system", + "subdivision of digestive tract", + "immaterial entity", + "dermal skeleton", + "Aplasia/Hypoplasia of facial bones (HPO)", + "abnormal sensory perception", + "Hypoplastic facial bones (HPO)", + "Abnormality of the mouth (HPO)", + "reproductive organ", + "Abnormal oral morphology (HPO)", + "jaw region", + "neural crest-derived structure", + "dentary", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "facial bone hypoplasia", + "Abnormality of digestive system morphology (HPO)", + "abnormal mouth morphology", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "aplasia or hypoplasia of mandible", + "decreased qualitatively sensory perception of mechanical stimulus", + "native cell", + "hemolymphoid system", + "Abnormality of blood and blood-forming tissues (HPO)", + "Pancytopenia (HPO)", + "sexual reproduction", + "anucleate cell", + "abnormal male reproductive organ morphology", + "bone marrow", + "secretory cell", + "nucleate cell", + "oxygen accumulating cell", + "Cryptorchidism (HPO)", + "Abnormal immune system morphology (HPO)", + "Short finger (HPO)", + "eukaryotic cell", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Abnormal leukocyte morphology (HPO)", + "erythroid lineage cell", + "blood cell", + "hematopoietic cell", + "abnormal hematopoietic system", + "Hearing abnormality (HPO)", + "platelet", + "biogenic amine secreting cell", + "Abnormality of reproductive system physiology (HPO)", + "abnormal limb bone morphology", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Abnormality of the orbital region (HPO)", + "erythrocyte", + "leukocyte", + "abnormal immune system", + "decreased biological_process", + "serotonin secreting cell", + "growth", + "digitopodium bone", + "Abnormal finger phalanx morphology (HPO)", + "Growth delay (HPO)", + "radius bone hypoplasia", + "Growth abnormality (HPO)", + "abnormal orbital region", + "bone marrow cell", + "orifice", + "Abnormal ocular adnexa morphology (HPO)", + "decreased length of palpebral fissure", + "entire sense organ system", + "abnormal shape of continuant", + "Abnormality of the ocular adnexa (HPO)", + "Abnormality of the nervous system (HPO)", "abnormal ocular adnexa morphology", - "Abnormal axial skeleton morphology", + "visual system", + "orbital region", + "Short palpebral fissure (HPO)", + "paired limb/fin segment", + "Abnormal size of the palpebral fissures (HPO)", + "Abnormality of epiphysis morphology (HPO)", + "subdivision of head", + "Short stature (HPO)", + "camera-type eye", + "aplastic anatomical entity", + "abnormal face", + "eyelid", + "Blepharophimosis (HPO)", + "Abnormality of the upper urinary tract (HPO)", + "bone of craniocervical region", + "abnormal eyelid morphology", "decreased size of the anatomical entity in the pectoral complex", - "Abnormal facial skeleton morphology", - "Abnormal skeletal morphology", - "abnormal biological_process", - "abnormal integument", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "abnormal myeloid cell morphology", - "increased biological_process", + "skeleton of lower jaw", + "abnormal radius bone morphology", + "sperm", + "Aplasia/Hypoplasia of the radius (HPO)", + "Abnormality of forearm bone (HPO)", + "decreased length of forelimb zeugopod bone", + "Abnormality of the immune system (HPO)", + "Narrow palpebral fissure (HPO)", + "postcranial axial skeleton", + "Abnormality of the forearm (HPO)", + "Abnormality of the radius (HPO)", + "forelimb zeugopod", + "Decreased head circumference (HPO)", + "abnormal forelimb zeugopod bone", + "quality", + "forelimb zeugopod bone", + "Abnormal spermatogenesis (HPO)", + "Forearm undergrowth (HPO)", + "arm bone", + "radius bone", + "disconnected anatomical group", + "Short long bone (HPO)", + "decreased length of long bone", + "Short forearm (HPO)", + "abnormal long bone morphology", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "forelimb zeugopod bone hypoplasia", + "sensory perception", "abnormal digestive system morphology", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "decreased width of the anatomical entity in independent continuant", - "Cafe-au-lait spot", - "Macule", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "Hyperpigmentation of the skin", - "abnormality of multicellular organism height", - "abnormal digit morphology", - "Abnormal forebrain morphology", + "decreased length of anatomical entity", + "zeugopod", + "abnormal anatomical entity morphology in the brain", + "manual digit 1 plus metapodial segment", + "telencephalon", + "Opisthokonta", "absent anatomical entity", - "abnormal forebrain morphology", - "Abnormality of the genitourinary system", - "Abnormality of the head", - "continuant", - "abnormal craniocervical region morphology", - "abnormal appendicular skeleton morphology", - "abnormal skull morphology", - "Aplasia/Hypoplasia of fingers", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormally decreased number of myeloid cell", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "aplasia or hypoplasia of manual digit", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "Abnormality of the skin", - "agenesis of anatomical entity", - "increased qualitatively biological_process", - "All", - "Abnormal upper limb bone morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "Aplasia/Hypoplasia of the thumb", - "abnormal blood cell", - "decreased length of palpebral fissure", - "abnormal face morphology", - "Limb undergrowth", - "Abnormal size of the palpebral fissures", - "Short palpebral fissure", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "abnormal craniocervical region", - "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "abnormally localised testis", - "anatomical entity hypoplasia in face", - "abnormal digit", - "Abnormal appendicular skeleton morphology", - "abnormal external nose morphology", - "Abnormality of body height", - "increased pigmentation", - "abnormal anatomical entity morphology in the appendage girdle complex", - "aplasia or hypoplasia of mandible", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "Aplasia/Hypoplasia of facial bones", - "Abnormality of the hand", - "absent digit", - "Abnormal cell morphology", - "phenotype", - "abnormal male reproductive system morphology", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal manual digit morphology in the independent continuant", - "abnormal limb", - "Abnormality of digestive system morphology", - "abnormal pigmentation", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", + "central nervous system", + "multi organ part structure", + "structure with developmental contribution from neural crest", + "abnormal telencephalon morphology", + "abnormal brain morphology", + "aplasia or hypoplasia of telencephalon", + "abnormal phalanx morphology", + "myeloid cell", + "cellular organisms", + "main body axis", + "aplasia or hypoplasia of radius bone", + "Azoospermia (HPO)", + "cranial skeletal system", + "delayed growth", + "organism", + "membrane bone", + "Abnormal nervous system morphology (HPO)", + "Abnormality of skull size (HPO)", + "vestibulo-auditory system", + "forelimb endochondral element", + "abnormal forelimb zeugopod bone morphology", + "nervous system process", + "Abnormal renal morphology (HPO)", + "body proper", + "Abnormal axial skeleton morphology (HPO)", + "abnormal size of anatomical entity", + "germ line cell", + "bone cell", + "shape anatomical entity", + "regional part of nervous system", + "digit 1", + "abnormal head", + "abnormal organelle organization", + "Abnormality of long bone morphology (HPO)", + "Hyperpigmentation of the skin (HPO)", + "head", + "multicellular organism reproduction", + "Metazoa", + "axial skeleton plus cranial skeleton", + "skeleton of manual digitopodium", + "axial skeletal system", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "Abnormal skull morphology (HPO)", + "anatomical entity hypoplasia", "decreased height of the multicellular organism", - "Short long bone", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "Short thumb", - "abnormal manual digit 1 morphology", - "mandible hypoplasia", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "subdivision of organism along main body axis", + "forebrain", + "Eukaryota", + "upper limb segment", + "Morphological central nervous system abnormality (HPO)", + "root", + "increased biological_process", + "abnormal central nervous system morphology", + "absent anatomical entity in the skeletal system", + "decreased width of the anatomical entity", + "changed biological_process rate in independent continuant", + "Abnormality of the palpebral fissures (HPO)", + "increased qualitatively biological_process in independent continuant", + "abnormally localised anatomical entity", + "non-connected functional system", + "Abnormal forearm bone morphology (HPO)", + "abnormal biological_process", + "multi-tissue structure", + "skin of body", + "Abnormality of the ear (HPO)", + "increased size of the anatomical entity in independent continuant", + "subdivision of skeleton", + "protein-containing material entity", + "biological_process", + "Neoplasm by anatomical site (HPO)", + "phalanx", + "Abnormality of head or neck (HPO)", + "reproductive process", + "abnormal pigmentation", + "pigmentation", + "abnormal size of palpebral fissure", + "Macule (HPO)", + "Abnormal internal genitalia (HPO)", + "abnormal growth", + "increased biological_process in skin of body", + "abnormal skin of body morphology", + "multicellular organismal reproductive process", + "Abnormal cell morphology (HPO)", + "Abnormality of the integument (HPO)", + "integumental system", + "abnormal pigmentation in independent continuant", "phenotype by ontology source", - "abnormally decreased number of hematopoietic cell", - "Abnormal thumb morphology", - "abnormal arm", - "abnormal number of anatomical enitites of type myeloid cell", + "cell", + "tissue", + "Abnormality of skin pigmentation (HPO)", + "increased qualitatively biological_process", + "abnormal metabolic process", + "changed biological_process rate", + "Irregular hyperpigmentation (HPO)", + "abnormal size of skull", + "Cafe-au-lait spot (HPO)", + "abnormal skull morphology", + "external nose", + "Localized skin lesion (HPO)", "absent anatomical entity in the forelimb", - "Horseshoe kidney", + "palpebral fissure", + "abnormal skin of body", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "process", + "abnormal integument", + "nose tip", + "skeletal element", + "abnormal kidney", + "Abnormal erythroid lineage cell morphology (HPO)", + "acropodial skeleton", + "abnormal internal genitalia", + "somatic cell", + "individual digit of digitopodial skeleton", + "anatomical entity", + "Upper limb undergrowth (HPO)", + "abnormal mouth", + "phalanx of manus", + "autopod bone", + "decreased length of anatomical entity in independent continuant", + "autopod endochondral element", + "skeleton of pectoral complex", + "skeleton of digitopodium", + "Abnormal facial skeleton morphology (HPO)", + "Eumetazoa", + "segment of autopod", + "abnormal appendicular skeleton morphology", + "Aplasia/Hypoplasia of the thumb (HPO)", "abnormality of reproductive system physiology", - "absent sperm", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "aplastic manual digit 1", - "decreased qualitatively sensory perception of sound", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormally decreased number of cell", - "abnormal palpebral fissure", - "anatomical entity hypoplasia", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "increased size of the anatomical entity", - "Abnormal nervous system morphology", - "abnormal limb bone", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "absent gamete", - "abnormal head morphology", + "regional part of brain", + "animal cell", + "decreased size of the anatomical entity", + "abnormally localised anatomical entity in independent continuant", + "musculoskeletal system", + "compound organ", + "autopod region", + "Abnormality of limb epiphysis morphology (HPO)", + "absent digit", + "Abnormality of the hand (HPO)", + "eye", + "Microcephaly (HPO)", + "Abnormality of male internal genitalia (HPO)", + "Aplasia/hypoplasia of the extremities (HPO)", + "gamete generation", + "Abnormality of skin morphology (HPO)", + "abnormal nose morphology", + "zone of bone organ", "absent anatomical entity in the limb", - "Abnormal mandible morphology", - "Abnormal digit morphology", - "abnormal anatomical entity morphology in the brain", - "Abnormality of limb bone", - "Abnormal spermatogenesis", - "Localized skin lesion", - "Abnormal hand morphology", - "quality", - "aplastic anatomical entity", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", + "trunk region element", + "pectoral complex", + "programmed DNA elimination by chromosome breakage", + "organism subdivision", + "Hypoplasia of the radius (HPO)", + "abnormal spermatogenesis", + "germ cell", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "segment of manus", "abnormal anatomical entity morphology in the independent continuant", + "anatomical conduit", + "mandible hypoplasia", + "skeleton of manus", + "aplasia or hypoplasia of manual digit 1", "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal sensory perception", - "abnormal manus", - "abnormal limb bone morphology", - "abnormal testis morphology", + "All (HPO)", + "negative regulation of cellular biosynthetic process", + "Abnormal hand epiphysis morphology (HPO)", + "zone of organ", + "lower jaw region", + "limb endochondral element", + "absent epiphysis of phalanx of manus in the phalanx of manus", "entity", - "aplasia or hypoplasia of manual digit 1", - "abnormal reproductive system", - "Abnormality of head or neck", - "abnormal limb morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "abnormal immune system morphology", - "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "increased qualitatively biological_process in independent continuant", - "Aplasia of the fingers", - "Abnormal finger morphology", - "Morphological central nervous system abnormality", + "aplasia or hypoplasia of manual digit", + "gamete", + "organ part", + "abnormal manus", + "brain", + "Abnormality of thumb epiphysis (HPO)", + "Short digit (HPO)", + "abnormal limb long bone morphology", + "regulation of macromolecule metabolic process", + "Abnormal mandible morphology (HPO)", + "continuant", + "aplastic manual digit 1", + "abnormal multicellular organism morphology", + "developmental process involved in reproduction", + "Abnormal epiphysis morphology of the phalanges of the hand (HPO)", + "male germ cell", + "limb", + "lateral structure", + "arm", + "absent epiphysis in the independent continuant", + "endochondral bone", + "protein-DNA complex organization", + "organ", + "Aplasia of the fingers (HPO)", + "subdivision of skeletal system", + "sense organ", + "Horseshoe kidney (HPO)", + "abnormal postcranial axial skeleton morphology", + "manual digit", "abnormal facial skeleton morphology", - "Abnormal cellular immune system morphology", - "abnormal brain morphology", - "abnormal head", - "Abnormality of skull size", - "Abnormal localization of kidney", - "Growth abnormality", - "abnormal orbital region", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal size of palpebral fissure", - "Abnormality of the palpebral fissures", - "abnormal ocular adnexa", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "absent sperm in the semen", - "decreased length of anatomical entity", + "nervous system", + "intramembranous bone", + "skeleton of limb", + "gonad", + "digit 1 digitopodial skeleton", + "Abnormal morphology of the radius (HPO)", + "pectoral appendage skeleton", + "increased biological_process in independent continuant", + "Aplasia/Hypoplasia of fingers (HPO)", + "manual digit digitopodial skeleton", + "epiphysis of phalanx of manus", + "anatomical entity hypoplasia in independent continuant", + "Thrombocytopenia (HPO)", + "Abnormality of forebrain morphology (HPO)", + "bone of appendage girdle complex", + "manual digit 1", + "increased pigmentation in skin of body", + "material entity", + "abnormal digit", + "Abnormal cerebral morphology (HPO)", + "Abnormal platelet morphology (HPO)", + "primary subdivision of cranial skeletal system", + "forelimb long bone", + "decreased height of the anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "abnormal manus morphology", + "bone of jaw", + "Absent epiphyses of the phalanges of the hand (HPO)", + "manus", + "male reproductive system", + "limb bone", "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal kidney morphology", - "decreased spermatogenesis", + "acropodium region", + "specifically dependent continuant", + "internal male genitalia", + "occurrent", + "manual digitopodium bone", + "abnormal skeletal system morphology", + "digitopodium region", "decreased width of the palpebral fissure", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "decreased length of anatomical entity in independent continuant", - "abnormal bone marrow cell morphology", - "Blepharophimosis", - "Abnormality of the upper urinary tract", - "decreased width of the anatomical entity", - "abnormal face", - "abnormal radius bone morphology", - "Narrow palpebral fissure", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "aplasia or hypoplasia of skull", - "Abnormal eyelid morphology", - "Short forearm", - "delayed biological_process", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "Growth delay", + "Abnormality of limb bone morphology (HPO)", + "abnormal radius bone", + "digit plus metapodial segment", + "Abnormal digit morphology (HPO)", + "multi-limb segment region", + "absent manual digit", + "digit 1 or 5", + "Abnormal reproductive system morphology (HPO)", + "immaterial anatomical entity", + "endochondral element", + "decreased width of the anatomical entity in independent continuant", + "abnormal anatomical entity morphology in the skeleton of manus", + "autopodial skeleton", + "abnormal nervous system morphology", + "bone element", + "abdomen element", + "subdivision of trunk", + "Hypermelanotic macule (HPO)", + "abnormal anatomical entity morphology in the pectoral complex", + "dermal skeletal element", + "abnormal forelimb zeugopod", + "Abnormal myeloid cell morphology (HPO)", + "appendage girdle complex", "abnormal anatomical entity topology in independent continuant", - "abnormal leukocyte morphology", - "abnormal growth", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormal cellular phenotype", + "limb segment", "decreased size of the radius bone", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "Upper limb undergrowth", - "Abnormal long bone morphology", - "decreased length of long bone", - "abnormal limb long bone morphology", - "Aplasia/Hypoplasia of the radius", - "abnormal digestive system", - "radius bone hypoplasia", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "anatomical entity hypoplasia in independent continuant", - "decreased size of the multicellular organism", - "abnormal size of multicellular organism", - "Abnormality of the face", - "decreased height of the anatomical entity", - "abnormality of anatomical entity height", - "Abnormality of the digestive system", - "abnormal mouth morphology", - "bone element hypoplasia in face", - "abnormal jaw skeleton morphology", - "Abnormality of reproductive system physiology", - "Aplasia/Hypoplasia involving bones of the skull", + "facial skeleton", + "skull", + "multicellular anatomical structure", + "male gamete", + "ectoderm-derived structure", + "Limb undergrowth (HPO)", + "epiphysis of phalanx", + "decreased spermatogenesis", + "manual digit bone", + "abdominal segment of trunk", + "digit", + "Abnormality of the head (HPO)", + "mandible", + "increased pigmentation", + "abnormal bone of pectoral complex morphology", + "simple eye", + "forelimb bone", + "obsolete cell", + "Abnormal erythrocyte morphology (HPO)", + "epiphysis", + "Chromosomal breakage induced by crosslinking agents (HPO)", + "chromatin organization", + "manual digit 1 phalanx", + "sensory system", + "U-shaped anatomical entity", + "manual digit 1 phalanx endochondral element", + "upper urinary tract", + "skeletal system", + "bone of pectoral complex", + "abnormality of anatomical entity physiology", + "absent epiphysis of phalanx of manus in the independent continuant", + "reproductive structure", + "male reproductive organ", + "abnormal reproductive system", + "manual digit 1 or 5", + "radius endochondral element", + "trunk", + "digit 1 plus metapodial segment", "abnormal head bone morphology", - "Abnormal jaw morphology", - "abnormal size of skull", - "Abnormality of the mouth", - "absent sperm in the independent continuant", + "forelimb skeleton", + "Abnormality of the musculoskeletal system (HPO)", + "Abnormality of body height (HPO)", + "Absent epiphyses (HPO)", + "manual digitopodium region", + "abnormal nose", + "long bone", + "anterior region of body", + "absent anatomical entity in the multicellular organism", + "male gamete generation", + "zeugopodial skeleton", + "motile cell", "abnormal anatomical entity", - "Abnormal forearm morphology", - "decreased size of the mandible", - "abnormally increased volume of nose", - "increased biological_process in skin of body", - "changed biological_process rate", - "absent germ cell", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "Short stature", - "Hypoplastic facial bones", - "abnormal mandible morphology", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Micrognathia", - "Abnormality of male external genitalia", - "abnormal male reproductive organ morphology", - "abnormality of anatomical entity physiology", - "changed developmental process rate", - "abnormally localised anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal reproductive process", - "Non-obstructive azoospermia", + "paired limb/fin", + "Abnormality of limb bone (HPO)", + "cellular component organization or biogenesis", + "abnormal digit morphology", "Phenotypic abnormality", - "abnormal reproductive system morphology", - "abnormal external male genitalia" + "delayed biological_process", + "abnormal anatomical entity morphology in the manus", + "Abnormality of thrombocytes (HPO)", + "Abnormality of the skin (HPO)", + "reproduction", + "Aplasia/Hypoplasia of the mandible (HPO)", + "Abnormality of limbs (HPO)", + "absent manual digit 1", + "subdivision of organism along appendicular axis", + "absent anatomical entity in the independent continuant", + "Abnormal skeletal morphology (HPO)", + "abnormal limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "phenotype", + "absent anatomical entity in the phalanx of manus", + "Abnormal localization of kidney (HPO)", + "ocular adnexa", + "regulation of macromolecule biosynthetic process", + "manual digit phalanx endochondral element", + "limb skeleton subdivision", + "phalanx endochondral element", + "3-D shape anatomical entity in independent continuant", + "anatomical system", + "aplasia or hypoplasia of anatomical entity", + "forelimb zeugopod skeleton", + "abnormal biological_process in independent continuant", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "bone of free limb or fin", + "abnormal external nose", + "appendicular skeleton", + "Abnormal cellular immune system morphology (HPO)", + "immune system", + "face", + "abnormal craniocervical region", + "manual digit plus metapodial segment", + "Abnormal upper limb bone morphology (HPO)", + "Abnormality of bone marrow cell morphology (HPO)", + "zone of long bone", + "manus bone", + "skeleton", + "Abnormal platelet count (HPO)", + "abnormal manual digit 1 morphology", + "decreased qualitatively sensory perception of sound", + "abnormal palpebral fissure", + "abnormal epiphysis morphology in the independent continuant", + "Abnormal eyelid morphology (HPO)", + "limb long bone", + "dermatocranium", + "anatomical structure", + "genitourinary system", + "Abnormality of finger (HPO)", + "abnormal epiphysis morphology", + "anatomical collection", + "bone element hypoplasia in independent continuant", + "abnormal anatomical entity morphology", + "integument", + "abnormal number of anatomical enitites of type anatomical entity", + "hematopoietic system", + "abnormal forebrain morphology", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "abnormal skeletal system", + "spermatogenesis", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "manual digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "Abnormal hand morphology (HPO)", + "system", + "Abnormality of the face (HPO)", + "aplasia or hypoplasia of skeleton", + "independent continuant", + "U-shaped kidney", + "material anatomical entity", + "abnormal epiphysis morphology in the skeleton of manus", + "appendage", + "3-D shape anatomical entity", + "Abnormal cellular phenotype (HPO)", + "testis", + "craniocervical region", + "Abnormality of upper limb epiphysis morphology (HPO)", + "Abnormality of brain morphology (HPO)", + "pectoral appendage", + "autopodial extension", + "agenesis of anatomical entity", + "abnormal nervous system", + "abnormal DNA metabolic process", + "decreased size of the mandible", + "forelimb", + "sensory perception of sound", + "abnormal phalanx of manus morphology", + "absent epiphysis", + "abnormal arm", + "Abnormal appendicular skeleton morphology (HPO)", + "multicellular organism", + "abnormality of male reproductive system physiology", + "abnormal ocular adnexa", + "Absent thumb (HPO)", + "organism substance", + "Abnormal leukocyte count (HPO)", + "chromatin remodeling", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "regulation of cellular metabolic process", + "Abnormality of the skeletal system (HPO)", + "Micrognathia (HPO)", + "abnormal limb bone", + "increased pigmentation in independent continuant", + "Absent epiphyses of the thumb (HPO)", + "abnormal epiphysis of phalanx of manus morphology", + "abnormal cellular component organization", + "appendicular skeletal system", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "Anemia (HPO)", + "Abnormal thumb morphology (HPO)" ], "has_phenotype_count": 20, "highlight": null, @@ -9678,705 +15031,1197 @@ "HP:0003076", "HP:0002909", "HP:0002049", + "HP:0001942", "HP:0003648", "HP:0001324", - "HP:0001942", "HP:0002749", - "HP:0000124", - "HP:0004322", - "HP:0000083", + "HP:0003155", "HP:0002148", + "HP:0000124", "HP:0003109", "HP:0002900", "HP:0002748", - "HP:0034359", "HP:0003076", - "HP:0003155", "HP:0003355", - "HP:0003126" + "HP:0004322", + "HP:0003126", + "HP:0000083" ], "has_phenotype_label": [ - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Osteomalacia", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis", - "Lacticaciduria", - "Muscle weakness", - "Metabolic acidosis", - "Osteomalacia", - "Renal tubular dysfunction", - "Short stature", - "Renal insufficiency", - "Hypophosphatemia", - "Hyperphosphaturia", - "Hypokalemia", - "Rickets", - "Impaired renal tubular reabsorption of phosphate", - "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", - "Low-molecular-weight proteinuria" + "Renal phosphate wasting (HPO)", + "Weight loss (HPO)", + "Muscle weakness (HPO)", + "Bicarbonate-wasting renal tubular acidosis (HPO)", + "Osteomalacia (HPO)", + "Growth delay (HPO)", + "Stage 5 chronic kidney disease (HPO)", + "Hypercalciuria (HPO)", + "Dehydration (HPO)", + "Pulmonary fibrosis (HPO)", + "Hypoglycemia (HPO)", + "Chronic kidney disease (HPO)", + "Renal sodium wasting (HPO)", + "Hypophosphatemic rickets (HPO)", + "Hypouricemia (HPO)", + "Decreased plasma carnitine (HPO)", + "Increased urinary potassium (HPO)", + "Hypokalemia (HPO)", + "Increased susceptibility to fractures (HPO)", + "Bone pain (HPO)", + "Hypophosphatemia (HPO)", + "Abnormal urine pH (HPO)", + "Hyperchloremic metabolic acidosis (HPO)", + "Bicarbonaturia (HPO)", + "Hyperuricosuria (HPO)", + "Low-molecular-weight proteinuria (HPO)", + "Glycosuria (HPO)", + "Generalized aminoaciduria (HPO)", + "Proximal renal tubular acidosis (HPO)", + "Metabolic acidosis (HPO)", + "Lacticaciduria (HPO)", + "Muscle weakness (HPO)", + "Osteomalacia (HPO)", + "Elevated circulating alkaline phosphatase concentration (HPO)", + "Hypophosphatemia (HPO)", + "Renal tubular dysfunction (HPO)", + "Hyperphosphaturia (HPO)", + "Hypokalemia (HPO)", + "Rickets (HPO)", + "Glycosuria (HPO)", + "Aminoaciduria (HPO)", + "Short stature (HPO)", + "Low-molecular-weight proteinuria (HPO)", + "Renal insufficiency (HPO)" ], "has_phenotype_closure": [ - "UPHENO:0046362", + "UPHENO:0012541", + "UPHENO:0075159", + "UPHENO:0075195", + "HP:0004322", + "UPHENO:0069254", + "UPHENO:0068292", + "PR:000003968", + "PR:000018263", + "PR:000000001", + "CHEBI:28358", + "UPHENO:0068094", + "CHEBI:33575", + "HP:0001992", + "UPHENO:0046286", + "UPHENO:0068040", + "CHEBI:33608", + "CHEBI:60911", + "CHEBI:24651", + "HP:0031980", + "UPHENO:0051930", + "UPHENO:0068495", + "CHEBI:35605", + "HP:0003155", + "CHEBI:36586", + "UPHENO:0051635", + "UPHENO:0068058", + "UPHENO:0080658", + "HP:0003076", + "CHEBI:60004", + "CHEBI:37622", + "CHEBI:50047", + "CHEBI:16541", + "UPHENO:0068247", + "CHEBI:33709", + "UPHENO:0068565", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068491", + "UPHENO:0078554", + "CHEBI:35406", + "HP:0033354", + "HP:0003646", + "UPHENO:0068036", + "CHEBI:25696", + "CHEBI:25741", + "UPHENO:0051714", + "UPHENO:0051688", + "UPHENO:0051659", + "CHEBI:17544", + "CHEBI:25699", + "HP:0011279", + "UPHENO:0081777", + "UPHENO:0084542", + "HP:0004918", + "HP:0032943", + "HP:0002653", + "HP:0012531", + "UPHENO:0068511", + "HP:0002900", + "CHEBI:60242", + "CHEBI:25414", + "HP:0010929", + "CHEBI:36915", + "CHEBI:23906", + "CHEBI:24835", + "GO:0050801", + "UPHENO:0051645", + "CHEBI:37247", + "CHEBI:29103", + "HP:0001995", + "CHEBI:36916", + "CHEBI:36914", + "UPHENO:0051958", + "UPHENO:0034438", + "HP:0003081", + "UPHENO:0068296", + "UPHENO:0051739", + "UPHENO:0046283", + "HP:0012598", + "UPHENO:0068350", + "UPHENO:0051849", + "CHEBI:26469", + "CHEBI:35281", + "GO:0110165", + "HP:0003287", + "UPHENO:0050484", + "CHEBI:51151", + "GO:0005739", + "GO:0032787", + "UPHENO:0068079", + "UPHENO:0084541", + "GO:0005575", + "UPHENO:0078640", + "GO:0043436", + "UPHENO:0077817", + "CHEBI:35381", + "GO:0006577", + "GO:0006575", + "UPHENO:0034319", + "CHEBI:17126", + "UPHENO:0084472", + "HP:0003119", + "CHEBI:35604", + "HP:0010996", + "UPHENO:0051777", + "CHEBI:22860", + "GO:0044255", + "CHEBI:35284", + "CHEBI:33833", + "GO:0019752", + "UPHENO:0051887", + "HP:0004359", + "CHEBI:83821", + "GO:0005737", + "UPHENO:0002816", + "UPHENO:0049723", + "HP:0001939", + "CHEBI:27171", + "GO:0043229", + "HP:0004325", + "GO:0043227", + "GO:0043226", + "GO:0005623", + "UBERON:0001630", + "UPHENO:0006889", + "UPHENO:0080352", + "UPHENO:0034149", + "UPHENO:0078646", + "UPHENO:0084537", + "CHEBI:33318", + "CHEBI:38101", + "GO:0071704", + "CHEBI:59999", + "HP:0003126", + "UPHENO:0049873", + "CHEBI:33635", + "CHEBI:5686", + "UPHENO:0077826", + "UPHENO:0034351", + "UPHENO:0051736", + "HP:0002795", + "GO:0072521", + "UPHENO:0034199", + "GO:0046483", + "GO:0034641", + "GO:0009987", + "UPHENO:0050121", + "UBERON:0013702", + "UPHENO:0068538", + "HP:0011843", + "UPHENO:0049602", + "CHEBI:25810", + "GO:0048878", + "HP:0012603", + "CHEBI:33595", + "GO:0009112", + "CHEBI:72695", + "UBERON:0005172", + "UPHENO:0068251", + "UPHENO:0051588", + "CHEBI:26217", + 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"UPHENO:0019970", - "UPHENO:0004536", - "HP:0003109", - "HP:0001510", - "UPHENO:0049873", - "UPHENO:0068024", "UPHENO:0020748", - "UPHENO:0051645", - "HP:0002150", - "UPHENO:0046344", - "UPHENO:0081544", - "HP:0006530", - "UPHENO:0066927", - "HP:0020129", - "UPHENO:0046348", - "HP:0004352", - "UPHENO:0034319", - "UPHENO:0068110", - "HP:0001947", - "UPHENO:0046284", - "HP:0002148", - "UPHENO:0050121", - "UPHENO:0051678", - "UPHENO:0084472", - "UPHENO:0075195", - "UPHENO:0086132", + "UBERON:0000170", + "CHEBI:33695", + "CHEBI:27369", + "UBERON:0000468", + "HP:0012337", + "HP:0002157", + "CHEBI:33504", + "UPHENO:0079822", + "UBERON:0000915", + "CHEBI:26708", + "UPHENO:0051898", + "UBERON:0001005", + "UPHENO:0054261", + "UBERON:0000171", + "CHEBI:33273", + "UBERON:0000065", + "UBERON:0000072", "UPHENO:0020584", - "UPHENO:0050619", - "UPHENO:0000541", - "UPHENO:0049709", - "HP:0003330", - "HP:0012252", - "UPHENO:0002964", + "UBERON:0002075", + "UBERON:0005181", + "UPHENO:0015280", + 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"UPHENO:0082794", + "UPHENO:0049587", + "UBERON:0005090", + "HP:0011042", + "UPHENO:0051712", "UPHENO:0051186", + "UPHENO:0046344", + "UBERON:0000061", "UPHENO:0076289", + "HP:0002150", + "UPHENO:0001003", + "CHEBI:33579", + "UBERON:0000463", + "UPHENO:0078592", + "UPHENO:0051619", + "HP:0100529", + "CL:0000000", + "UPHENO:0068110", + "UBERON:0004119", + "GO:0050878", + "HP:0003774", + "UPHENO:0081440", + "HP:0000083", + "CHEBI:33839", + "GO:0065007", + "GO:0055086", + "UPHENO:0000541", + "UPHENO:0051801", + "GO:0008152", + "HP:0003234", + "BFO:0000002", + "GO:0001503", + "UBERON:0002204", + "HP:0003110", + "UPHENO:0046284", + "UPHENO:0052008", + "HP:0003330", + "UPHENO:0081581", + "GO:0065008", + "GO:0044237", + "UPHENO:0068102", + "CHEBI:35352", + "HP:0000924", + "HP:0004348", + "HP:0001947", + "HP:0004349", + "UPHENO:0084653", + "UBERON:0001015", + "HP:0000002", + "CHEBI:33304", "HP:0011842", - "UPHENO:0075696", - "HP:0001871", + "CHEBI:22984", + "CHEBI:138675", + "UPHENO:0076294", + "UPHENO:0081544", + "HP:0011032", + "GO:1901564", + "HP:0010966", + "HP:0012379", + "UPHENO:0002448", + "CHEBI:33521", + "CHEBI:33296", + "UPHENO:0076692", + "CHEBI:33256", + "CHEBI:33636", + "UPHENO:0076703", + "GO:0055080", + "CHEBI:33302", + "UPHENO:0050539", + "UPHENO:0001001", + "UPHENO:0051937", + "UBERON:0011216", "HP:0012622", - "UPHENO:0082539", - "UPHENO:0082538", - "UPHENO:0050433", - "HP:0004910", - "BFO:0000002", - "BFO:0000001", - "HP:0003774", + "HP:0012606", + "UPHENO:0084654", + "UPHENO:0068054", + "UBERON:0004120", + "UBERON:0000479", + "CHEBI:26401", + "UPHENO:0078555", + "HP:0001510", "UPHENO:0082834", - "HP:0000924", + "UPHENO:0002803", + "UPHENO:0051847", + "UBERON:0006314", + "UPHENO:0066943", + "UBERON:0000916", + "GO:0055062", "UPHENO:0080659", - "UPHENO:0051668", - "UPHENO:0052116", - "HP:0003155", - "UPHENO:0080556", - "HP:0002900", - "HP:0012103", - "HP:0002749", - "UPHENO:0002442", - "UPHENO:0001003", - "UPHENO:0054261", - "HP:0004325", - "UPHENO:0001002", - "HP:0002206", - "UPHENO:0051898", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0078592", + "HP:0011280", "HP:0012591", - "HP:0001939", - "UPHENO:0068064", - "UPHENO:0076692", - "UPHENO:0002536", - "HP:0003149", - "UPHENO:0049628", - "UPHENO:0084653", - "UPHENO:0002320", - "UPHENO:0081423", - "HP:0002909", - "UPHENO:0002642", - "HP:0004348", - "HP:0000001", - "HP:0003537", - "HP:0001942", + "UBERON:0002100", + "UBERON:0002417", "HP:0001507", - "UPHENO:0076294", - "HP:0004359", - "HP:0012211", - "UPHENO:0051847", - "HP:0003110", - "UPHENO:0034391", - "UPHENO:0010763", + "HP:0001871", + "HP:0003111", + "UPHENO:0034248", + "CHEBI:22314", + "UPHENO:0082835", + "UPHENO:0068971", + "UBERON:0003103", + "UPHENO:0082539", + "UBERON:0009569", + "UBERON:0011676", + "CHEBI:24431", + "UPHENO:0068169", + "UPHENO:0082543", + "UPHENO:0002411", + "HP:0003537", + "CHEBI:36358", + "GO:1901360", + "UPHENO:0081546", + "GO:0040007", + "HP:0004360", + "UPHENO:0082761", + "UBERON:0004819", + "HP:0003011", + "UPHENO:0081547", + "GO:0043231", + "PR:000050567", + "UPHENO:0051866", + "UPHENO:0079536", "UPHENO:0054299", - "UPHENO:0084654", - "UPHENO:0034351", + "UBERON:0000483", + "HP:0004354", + "CHEBI:33672", + "UPHENO:0024906", + "HP:0001942", + "UPHENO:0068089", + "CHEBI:25213", + "UBERON:0015212", + "UPHENO:0048707", + "CHEBI:15841", + "HP:0004364", + "PATO:0000001", "UPHENO:0049874", + "UPHENO:0000543", + "CHEBI:33694", + "UPHENO:0049709", + "HP:0011017", + "UBERON:0002113", + "UBERON:0013701", + "UBERON:0011143", + "GO:0098771", + "UPHENO:0068064", + "UPHENO:0002832", + "UPHENO:0051668", + "HP:0032180", + "GO:0006725", + "UBERON:0004765", + "GO:0033500", + "UPHENO:0051678", + "GO:0006082", + "UPHENO:0002320", + "UPHENO:0002642", + "HP:0004323", + "UPHENO:0080555", + "GO:0042592", + "UBERON:0000062", "HP:0000117", - "UPHENO:0081550", - "PATO:0000001", - "HP:0002088", - "UPHENO:0002816", - "HP:0001824", - "UPHENO:0068538", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0011849", - "UPHENO:0050539", - "HP:0000083", - "UPHENO:0082794", + "GO:0044238", + "GO:0006807", + "UPHENO:0019970", + "UBERON:0005177", + "HP:0003109", + "GO:0032501", + "HP:0010930", + "UBERON:0007684", + "GO:0008150", + "UPHENO:0077829", "HP:0011804", + "UPHENO:0051670", + "UPHENO:0034276", + "UBERON:0001231", + "CHEBI:26079", + "UPHENO:0080556", + "CHEBI:64709", + "HP:0025142", + "GO:0006629", + "HP:0004352", + "HP:0001824", + "UBERON:0000174", + "UBERON:0004211", + "CHEBI:33655", + "GO:0042593", + "HP:0011277", + "HP:0003149", + "UBERON:0000467", "HP:0010935", - "BFO:0000020", - "HP:0011032", - "UPHENO:0001005", + "CHEBI:24870", + "UPHENO:0051608", + "CHEBI:26216", + "CHEBI:33559", + "CHEBI:36359", + "UBERON:0004122", + "HP:0002659", + "CHEBI:27226", + "HP:0000001", "UPHENO:0075902", - "HP:0012599", - "HP:0011277", - "UPHENO:0046283", - "HP:0033127", - "HP:0012337", - "HP:0003011", - "UPHENO:0051763", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0049904", - "HP:0004369", - "HP:0012610", - "UPHENO:0051766", - "UPHENO:0080555", - "HP:0011015", - "UPHENO:0004459", - "UPHENO:0080351", - "UPHENO:0076286", - "HP:0001943", - "UPHENO:0034438", - "HP:0012531", - "HP:0004349", - "HP:0012603", - "HP:0012606", - "UPHENO:0051887", - "HP:0032180", - "HP:0011042", - "UPHENO:0051866", - "UPHENO:0050116", - "UPHENO:0046356", - "UPHENO:0051960", - "UPHENO:0051849", - "UPHENO:0051714", - "UPHENO:0051937", - "UPHENO:0050080", - "HP:0001992", - "UPHENO:0066943", - "UPHENO:0051709", - "HP:0003111", - "UPHENO:0034253", - "HP:0003648", - "HP:0001941", - "UPHENO:0051804", - "HP:0004912", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0002748", - "HP:0100529", - "HP:0011280", - "UPHENO:0051704", - "UPHENO:0034217", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "UPHENO:0082544", - "UPHENO:0068251", - "UPHENO:0068054", - "UPHENO:0051777", - "UPHENO:0078616", + "UBERON:0001088", "HP:0034684", - "HP:0010932", - "UPHENO:0051686", - "UPHENO:0068036", - "UPHENO:0050113", - "UPHENO:0049748", - "UPHENO:0079822", - "UPHENO:0051608", - "UPHENO:0051688", + "CHEBI:16670", + "UPHENO:0075696", + "GO:0055067", "UPHENO:0077821", - "UPHENO:0077826", - "UPHENO:0051712", - "UPHENO:0086128", - "UPHENO:0049587", - "UPHENO:0066781", - "HP:0011279", - "HP:0002659", - "HP:0004364", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0081424", - "UPHENO:0084541", - "UPHENO:0024906", - "UPHENO:0034149", + "UPHENO:0002964", + "BFO:0000004", + "HP:0020129", + "UBERON:0000064", + "UPHENO:0051900", + "CHEBI:24833", + "UPHENO:0001002", + "UPHENO:0068144", + "CHEBI:33675", + "CHEBI:33241", + "UBERON:0001004", + "UBERON:0000475", + "GO:0006139", + "UPHENO:0050113", + "HP:0010932", + "GO:0005622", + "BFO:0000015", + "CHEBI:33674", + "UBERON:0000383", + "CHEBI:38166", + "UPHENO:0004536", + "CHEBI:36360", + "HP:0000119", + "UPHENO:0081550", + "UBERON:0001285", + "CHEBI:26020", + "BFO:0000040", + "HP:0012599", + "UPHENO:0001005", + "HP:0000118", "UPHENO:0082875", - "UPHENO:0034276", - "HP:0004354", - "UPHENO:0068350", - "HP:0025354", - "UPHENO:0050484", - "HP:0010966", - "HP:0003119", - "UPHENO:0084537", - "UPHENO:0049723", - "HP:0034359", - "HP:0010967", - "UPHENO:0078640", - "UPHENO:0068094", - "UPHENO:0078646", - "UPHENO:0034248", - "HP:0001944", - "HP:0003287", - "UPHENO:0086172", - "UPHENO:0034199", - "HP:0011017", - "HP:0010996", + "UPHENO:0051960", + "UPHENO:0051686", + "UBERON:0003914", + "CHEBI:23367", + "UPHENO:0068091", + "CHEBI:37577", + "UPHENO:0077820", "HP:0002049", - "UPHENO:0066739", - "UPHENO:0068296", - "UPHENO:0087433", - "HP:0012598", - "HP:0003081", - "UPHENO:0051958", - "UPHENO:0076299", - "UPHENO:0052008", - "HP:0010929", - "UPHENO:0086908", - "UPHENO:0081440", - "HP:0032943", - "HP:0003234", - "HP:0011843", - "HP:0025142", - "UPHENO:0076703", - "HP:0002653", - "HP:0004918", + "BFO:0000020", + "UBERON:0005173", + "HP:0004379", + "HP:0002749", + "UPHENO:0002536", + "UPHENO:0051763", + "UBERON:0001434", + "UPHENO:0010795", + "UBERON:0001062", + "CHEBI:22563", + "UPHENO:0046348", + "BFO:0000001", + "UPHENO:0081423", + "UPHENO:0082538", + "UPHENO:0010763", + "HP:0012103", + "UBERON:0009773", + "UBERON:0010000", + "HP:0011849", + "HP:0000093", + "UPHENO:0002442", + "HP:0010967", + "CHEBI:33582", "HP:0000124", - "UPHENO:0067999", - "HP:0001995", - "HP:0000002", - "HP:0002157", - "HP:0033354", - "UPHENO:0084542", - "UPHENO:0051659", - "UPHENO:0068079", + "UBERON:0001008", + "UBERON:8450002", + "CHEBI:35875", + "UBERON:0000489", + "UPHENO:0066927", "UPHENO:0002332", - "UPHENO:0078554" + "UPHENO:0079824", + "UPHENO:0034391", + "CHEBI:22313", + "UBERON:0000465", + "UBERON:0006555" ], "has_phenotype_closure_label": [ + "abnormal size of anatomical entity", + "decreased size of the multicellular organism", + "Short stature (HPO)", + "decreased height of the anatomical entity", + "abnormality of multicellular organism height", + "Hyperphosphaturia (HPO)", + "increased level of phosphate in urine", + "biomacromolecule", "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "protein", + "amino acid chain", + "Abnormal enzyme/coenzyme activity (HPO)", + "information biomacromolecule", + "Abnormality of alkaline phosphatase level (HPO)", + "abnormal protein level", "increased level of protein", + "Elevated circulating alkaline phosphatase concentration (HPO)", "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "Impaired renal tubular reabsorption of phosphate", - "abnormal renal system process", - "Abnormal renal tubular resorption", - "abnormal renal absorption", - "Hyperphosphaturia", - "increased level of phosphate in urine", + "Abnormal enzyme concentration or activity", + "increased level of rac-lactic acid in independent continuant", + "rac-lactic acid", + "increased level of rac-lactic acid in urine", + "chemical substance", + "abnormal independent continuant carboxylic acid level", + "decreased size of the anatomical entity in the independent continuant", + "hydrogen molecular entity", + "Generalized aminoaciduria (HPO)", + "organic acid", + "carbonyl compound", + "carboxylic acid", + "oxoacid", + "abnormal independent continuant amino acid level", + "Elevated urinary carboxylic acid (HPO)", + "increased level of amino acid in urine", + "abnormal urine amino acid level", + "Aminoaciduria (HPO)", + "increased level of organic acid in urine", + "increased level of glucose in independent continuant", + "increased level of monosaccharide in urine", + "increased level of monosaccharide in independent continuant", + "amide", + "mixture", + "primary amide", + "organic amino compound", + "Proteinuria (HPO)", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in independent continuant", + "macromolecule", + "abnormal size of multicellular organism", + "increased level of uric acid in urine", + "increased level of uric acid in independent continuant", + "Hyperuricosuria (HPO)", + "organic anion", + "Abnormality of body height (HPO)", + "abnormal hydrogencarbonate level", + "hydrogencarbonate", + "increased level of organic molecular entity in independent continuant", + "oxoanion", "decreased height of the multicellular organism", + "Abnormal urine carboxylic acid level (HPO)", + "organic ion", + "amino acid", + "anion", + "abnormal independent continuant hydrogencarbonate level", + "Abnormality of urine bicarbonate level (HPO)", + "Abnormal urine pH (HPO)", + "increased level of carboxylic acid in independent continuant", + "Bone pain (HPO)", + "Increased susceptibility to fractures (HPO)", + "abnormality of musculoskeletal system physiology", + "obsolete monovalent inorganic cation homeostasis", + "abnormal blood potassium atom level", + "polyatomic ion", + "decreased level of potassium atom in blood", + "abnormal urine glucose level", + "inorganic cation", + "Abnormal urine metabolite level (HPO)", + "alkali metal molecular entity", + "monoatomic cation", + "abnormal blood potassium(1+) level", + "increased independent continuant base level", + "monoatomic ion homeostasis", + "monoatomic monocation", + "Abnormal blood monovalent inorganic cation concentration (HPO)", + "Abnormal blood potassium concentration (HPO)", + "cation", + "inorganic ion", + "Hypokalemia (HPO)", + "decreased level of potassium atom in independent continuant", + "potassium atom", + "abnormal urine organic anion level", + "abnormal independent continuant potassium atom level", + "Increased urinary potassium (HPO)", + "Decreased plasma carnitine (HPO)", + "decreased level of amino-acid betaine", + "Abnormal circulating monocarboxylic acid concentration", + "intracellular membrane-bounded organelle", + "carnitine metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion (HPO)", + "abnormal amino-acid betaine level", + "Abnormality of the genitourinary system (HPO)", + "Abnormal circulating carnitine concentration (HPO)", + "abnormal monovalent inorganic cation homeostasis", + "excretory system", + "abnormal lipid metabolic process", + "cytoplasm", + "regulation of biological quality", + "abnormal mitochondrion", + "abnormal blood carnitine level", + "Organic aciduria (HPO)", + "dipolar compound", + "abnormal potassium atom level", + "Abnormal bone structure (HPO)", + "mitochondrion", + "decreased level of carnitine in blood", + "amino-acid betaine metabolic process", + "Constitutional symptom (HPO)", + "lipid metabolic process", + "cellular anatomical entity", + "abnormal cellular_component", + "abnormal urine sodium atom level", + "organic molecule", + "intracellular organelle", + "Hypouricemia (HPO)", + "increased level of calcium atom in independent continuant", + "abnormal independent continuant calcium atom level", + "organonitrogen compound", + "Abnormal circulating nucleobase concentration (HPO)", + "fatty acid metabolic process", + "polycyclic compound", + "onium betaine", + "heteropolycyclic compound", + "abnormal blood nitrogen molecular entity level", + "heterobicyclic compound", + "organic aromatic compound", + "Rickets (HPO)", + "Abnormal circulating nitrogen compound concentration (HPO)", + "imidazopyrimidine", + "Weight loss (HPO)", + "intracellular anatomical structure", + "increased level of amino acid in independent continuant", + "cellular process", + "increased level of nitrogen molecular entity in blood", + "increased level of nitrogen molecular entity in independent continuant", + "aromatic compound", + "organonitrogen heterocyclic compound", + "increased level of potassium atom in independent continuant", + "heteroarene", + "heterocyclic compound", + "organic cyclic compound", + "cyclic compound", + "purine-containing compound metabolic process", + "heterocycle metabolic process", + "abnormal independent continuant uric acid level", + "molecule", + "cellular modified amino acid metabolic process", + "nucleobase metabolic process", + "obsolete cell", + "Abnormal circulating purine concentration (HPO)", + "amino acid derivative", + "decreased level of uric acid in blood", + "decreased role independent continuant level", + "organic substance metabolic process", + "phenotype by ontology source", + "excreta", + "cell", + "cellular metabolic process", + "abnormal purine nucleobase metabolic process", + "endoderm-derived structure", + "cellular lipid metabolic process", + "Abnormal urine potassium concentration (HPO)", + "polyatomic entity", + "ion", + "abnormal independent continuant monoatomic ion level", + "Phenotypic abnormality", + "Hypophosphatemic rickets (HPO)", + "decreased level of phosphate in blood", + "decreased level of chemical entity in independent continuant", + "abnormal independent continuant organic anion level", + "abnormal independent continuant gas molecular entity level", + "decreased role blood level", + "phosphate ion homeostasis", "abnormality of anatomical entity height", - "abnormal size of multicellular organism", - "Abnormality of body height", - "increased level of rac-lactic acid in independent continuant", - "increased level of rac-lactic acid in urine", - "Proximal renal tubular acidosis", - "Organic aciduria", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of amino acid in urine", - "Generalized aminoaciduria", - "abnormal urine amino acid level", - "Aminoaciduria", - "abnormal independent continuant amino acid level", - "increased level of carboxylic acid in independent continuant", - "increased level of organic acid in urine", - "increased level of organic acid in independent continuant", - "Elevated urinary carboxylic acid", - "increased level of monosaccharide in urine", + "decreased level of chemical entity", + "monoatomic ion", + "decreased level of phosphate in independent continuant", + "Abnormality of urinary uric acid level (HPO)", + "increased level of hydrogencarbonate in urine", + "Abnormality of body weight (HPO)", + "increased level of chemical entity in blood", + "Abnormal urine sodium concentration (HPO)", + "trunk", + "ammonium betaine", + "aldohexose", + "abnormal urine potassium atom level", + "haemolymphatic fluid", + "hematopoietic system", + "abnormal nucleobase metabolic process", + "hemolymphoid system", + "Abnormal circulating fatty-acid concentration (HPO)", + "Abnormality of the kidney (HPO)", + "Abnormal lung morphology (HPO)", + "abnormal blood chemical entity level", + "Abnormal blood gas level (HPO)", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal independent continuant glucose level", + "delayed growth", + "cellular aromatic compound metabolic process", + "alkali metal cation", + "abnormal role blood level", + "carbohydrate homeostasis", + "aldose", + "abnormal carnitine metabolic process", + "epithelium", + "Decreased anatomical entity mass density", + "hexose", + "monosaccharide", + "Hypoglycemia (HPO)", "increased level of glucose in urine", - "increased level of glucose in independent continuant", - "increased level of monosaccharide in independent continuant", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in urine", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", + "organooxygen compound", + "Abnormal circulating metabolite concentration (HPO)", + "organic molecular entity", + "abnormal skeletal system morphology", "abnormal independent continuant carbohydrate level", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "abnormal blood nitrogen molecular entity level", - "Pulmonary fibrosis", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "Abnormality of the respiratory system", - "increased level of phosphate in independent continuant", + "mesoderm-derived structure", + "abnormal independent continuant carnitine level", + "abnormal blood gas molecular entity level", + "hydroxides", + "chemical homeostasis", + "epithelial tube", + "respiratory airway", + "abnormal metabolite independent continuant level", + "respiration organ", + "elemental molecular entity", + "Low-molecular-weight proteinuria (HPO)", + "respiratory tract", + "Dehydration (HPO)", + "proximo-distal subdivision of respiratory tract", + "sodium atom", + "abnormal cellular process", "abnormal lung morphology", - "All", + "nitrogen molecular entity", + "Hyperchloremic metabolic acidosis (HPO)", + "organochalcogen compound", + "abnormal anatomical entity morphology in the independent continuant", + "subdivision of tube", "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "Dehydration", - "Renal insufficiency", + "glucose", + "abnormal biological_process", + "lower respiratory tract", + "heteroatomic molecular entity", + "viscus", + "carboxylic acid metabolic process", + "thoracic segment organ", + "Bicarbonaturia (HPO)", + "Azotemia (HPO)", + "decreased multicellular organism mass", + "Pulmonary fibrosis (HPO)", + "abnormal independent continuant nitrogen molecular entity level", + "pair of lungs", + "oxygen molecular entity", + "increased level of purines in independent continuant", + "abnormality of respiratory system physiology", + "Renal phosphate wasting (HPO)", + "Abnormality of urine homeostasis (HPO)", + "anatomical collection", + "Abnormal muscle physiology (HPO)", + "Abnormality of the respiratory system (HPO)", "anatomical entity fibrosis", - "Abnormality of metabolism/homeostasis", - "abnormal role blood level", + "atom", + "lung", + "polypeptide", + "abnormal respiratory system", + "organic heterobicyclic compound", + "Abnormal respiratory system morphology (HPO)", + "lateral structure", "abnormal regulation of body fluid levels", - "increased level of chemical entity in bodily fluid", - "decreased size of the anatomical entity in the independent continuant", "abnormal urine calcium atom level", + "purines", + "Abnormality of the skeletal system (HPO)", + "calcium atom", + "Abnormal respiratory system physiology (HPO)", + "Abnormal renal physiology (HPO)", + "blood", + "oxide", + "abnormal monocarboxylic acid metabolic process", + "Hypercalciuria (HPO)", + "increased level of chemical entity in urine", + "carbohydrates and carbohydrate derivatives", + "muscle organ", "increased level of calcium atom in urine", - "Elevated circulating alkaline phosphatase concentration", - "abnormality of kidney physiology", - "Hypercalciuria", - "Abnormal circulating carboxylic acid concentration", - "abnormal calcium atom level", - "increased level of organic molecular entity in independent continuant", - "non-functional kidney", - "Chronic kidney disease", - "Abnormality of bone mineral density", - "Abnormal bone structure", - "Hyperchloremic acidosis", - "abnormal bone element mass density", - "abnormal monoatomic cation homeostasis", - "Abnormal circulating enzyme concentration or activity", - "Hyperuricosuria", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "abnormal role independent continuant level", - "increased bodily fluid role level", - "Acidosis", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Short stature", - "abnormally decreased functionality of the anatomical entity", - "Abnormal renal physiology", - "Weight loss", - "increased independent continuant acid level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "abnormal urine chemical entity level", - "abnormal homeostatic process", - "Abnormality of the urinary system physiology", - "increased level of potassium atom in independent continuant", - "decreased muscle organ strength", - "Aciduria", - "Abnormality of the urinary system", - "abnormal independent continuant potassium atom level", - "Abnormality of urinary uric acid level", - "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal urine potassium atom level", - "entity", - "increased level of protein polypeptide chain in independent continuant", + "increased level of carboxylic acid in urine", + "multicellular organismal process", + "Abnormality of urine calcium concentration (HPO)", + "abnormal fatty acid metabolic process", + "purine nucleobase metabolic process", + "Chronic kidney disease (HPO)", + "Abnormality of musculoskeletal physiology (HPO)", + "delayed biological_process", + "Stage 5 chronic kidney disease (HPO)", + "carbon group molecular entity", + "metal cation", + "Growth delay (HPO)", + "Hypophosphatemia (HPO)", + "monovalent inorganic cation", + "musculoskeletal system", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "process", + "carboxamide", + "Abnormality of the urinary system (HPO)", + "biological regulation", + "increased independent continuant role level", + "decreased level of chemical entity in blood", + "Abnormal bone ossification (HPO)", + "alkaline phosphatase, tissue-nonspecific isozyme", + "continuant", + "Osteomalacia (HPO)", + "Abnormal skeletal morphology (HPO)", + "regulation of body fluid levels", "abnormal skeletal system", - "abnormal potassium atom level", - "Abnormal musculoskeletal physiology", + "monocarboxylic acid metabolic process", + "Abnormality of the musculature (HPO)", + "compound organ", + "abnormal cellular metabolic process", + "Renal insufficiency (HPO)", + "carbohydrate", + "homeostatic process", + "abnormal role urine level", + "zwitterion", + "Abnormal cellular phenotype (HPO)", + "renal tubule", + "uriniferous tubule", + "increased level of chemical entity", + "abnormal growth", + "respiratory system", + "abnormal urine chemical entity level", + "Abnormality of bone mineral density (HPO)", + "decreased anatomical entity mass", "anatomical entity dysfunction in independent continuant", - "abnormal musculature", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "increased level of amino acid in independent continuant", - "Abnormality of the musculature", - "abnormal independent continuant calcium atom level", - "Reduced bone mineral density", - "specifically dependent continuant", + "decreased level of carnitine in independent continuant", + "abnormal blood oxygen molecular entity level", "abnormal anatomical entity morphology", - "delayed biological_process", - "Osteomalacia", - "abnormal multicellular organism chemical entity level", - "abnormality of muscle organ physiology", - "Growth delay", - "abnormal blood glucose level", - "Decreased plasma carnitine", - "Renal phosphate wasting", - "Metabolic acidosis", - "quality", + "Reduced bone mineral density (HPO)", + "abnormally decreased functionality of the nephron tubule", + "Metabolic acidosis (HPO)", + "increased level of phosphate in independent continuant", "abnormality of renal system physiology", - "Stage 5 chronic kidney disease", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in blood", + "Decreased bone element mass density", + "organism subdivision", + "body proper", + "glucose homeostasis", + "abnormality of kidney physiology", + "monoatomic entity", + "abnormal sodium atom level", + "organic acid metabolic process", + "cellular nitrogen compound metabolic process", + "abnormal multicellular organism morphology", + "primary metabolic process", + "ossification", + "abnormal metabolic process", + "abnormal phosphate ion homeostasis", + "abdomen", + "protein polypeptide chain", + "Bicarbonate-wasting renal tubular acidosis (HPO)", + "organ part", + "phosphorus oxoacids and derivatives", + "carbon oxoacid", + "nephron tubule", + "increased level of chemical entity in bodily fluid", + "abnormal musculature", + "subdivision of trunk", + "abdomen element", + "increased level of hydrogencarbonate in independent continuant", + "Pain (HPO)", + "organic heteropolycyclic compound", + "elemental potassium", + "anatomical conduit", + "abnormal blood phosphate level", + "organic oxo compound", + "increased independent continuant acid level", + "potassium molecular entity", + "Decreased circulating purine concentration (HPO)", + "s-block element atom", + "abnormal anatomical entity mass density", + "decreased level of uric acid in independent continuant", + "chalcogen molecular entity", + "cavitated compound organ", + "Renal tubular acidosis (HPO)", + "bodily fluid", + "occurrent", + "phosphorus oxoacid derivative", + "specifically dependent continuant", + "abnormal role independent continuant level", + "nephron epithelium", + "increased level of potassium atom in urine", + "Renal sodium wasting (HPO)", + "Hyperchloremic acidosis (HPO)", + "abnormal acid bodily fluid level", + "Glycosuria (HPO)", + "abnormality of anatomical entity mass", + "bone element", + "abnormal amino acid level", + "Aciduria (HPO)", + "nucleobase-containing compound metabolic process", + "subdivision of organism along main body axis", "abnormal respiratory system morphology", - "increased level of uric acid in urine", - "Abnormality of urine homeostasis", - "decreased role independent continuant level", - "increased level of calcium atom in independent continuant", - "Abnormal respiratory system morphology", - "Bone pain", - "Abnormality of the upper urinary tract", + "main body axis", + "Abnormal urine protein level (HPO)", + "alkali metal atom", + "Lacticaciduria (HPO)", + "alkaline earth metal atom", + "increased bodily fluid acid level", + "cytoplasmic region", + "excretory tube", + "increased level of organic acid in independent continuant", + "skeletal system", + "abnormally decreased functionality of the anatomical entity", + "upper urinary tract", + "Proximal renal tubular acidosis (HPO)", + "organic heterocyclic compound", + "abnormal calcium atom level", + "kidney", + "Abnormal circulating carboxylic acid concentration (HPO)", "decreased anatomical entity strength", - "Abnormal circulating fatty-acid concentration", - "abnormal anatomical entity", - "abnormal phenotype by ontology source", - "decreased level of potassium atom in blood", - "abnormal growth", - "abnormal blood uric acid level", - "abnormal cellular_component", - "abnormal genitourinary system", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "Decreased anatomical entity mass density", - "Abnormal blood ion concentration", + "independent continuant", + "heteroorganic entity", + "organ", + "abnormal independent continuant sodium atom level", + "inorganic molecular entity", + "amino-acid betaine", + "quaternary nitrogen compound", + "main group element atom", + "Abnormality of acid-base homeostasis (HPO)", + "uric acid", + "potassium(1+)", + "abnormal cation homeostasis", + "metabolic process", + "increased bodily fluid role level", + "abnormal multicellular organism chemical entity level", + "Muscle weakness (HPO)", + "Abnormal circulating lipid concentration (HPO)", + "s-block molecular entity", + "Abnormality of the upper urinary tract (HPO)", + "material anatomical entity", + "Decreased multicellular organism mass", + "nephron", + "abnormal amino acid derivative level", + "Abnormality of metabolism/homeostasis (HPO)", + "Acidosis (HPO)", + "Growth abnormality (HPO)", + "skeletal element", + "peptide", + "thoracic segment of trunk", + "Abnormal urinary electrolyte concentration (HPO)", + "pnictogen molecular entity", + "phosphorus molecular entity", + "nitrogen compound metabolic process", + "abdominal segment of trunk", + "abnormal independent continuant oxygen molecular entity level", "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormal anatomical entity morphology in the independent continuant", - "Growth abnormality", - "decreased anatomical entity mass", - "Abnormal lung morphology", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "Decreased anatomical entity mass", - "phenotype by ontology source", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", + "oxoacid derivative", + "abnormal acid independent continuant level", + "Abnormal blood ion concentration (HPO)", + "kidney epithelium", + "Abnormal circulating fatty-acid anion concentration (HPO)", + "growth", + "abnormal blood glucose level", + "biological_process", + "protein-containing material entity", + "abnormal independent continuant phosphate level", + "Abnormal cellular physiology (HPO)", + "decreased level of purines", + "Abnormal homeostasis (HPO)", + "tube", + "increased level of chemical entity in independent continuant", "abnormal phosphate level", - "decreased level of chemical entity", - "decreased level of chemical entity in blood", - "Decreased body weight", - "Abnormality of the genitourinary system", - "abnormal amino-acid betaine level", - "abnormality of anatomical entity mass", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "abnormal chemical entity level", - "abnormal monocarboxylic acid metabolic process", + "abnormal urine hydrogencarbonate level", + "All (HPO)", + "organonitrogen compound metabolic process", + "genitourinary system", + "oxopurine", + "musculature", + "organic cyclic compound metabolic process", + "increased level of protein polypeptide chain in urine", + "abnormal role bodily fluid level", + "decreased muscle organ strength", + "Abnormality of the musculoskeletal system (HPO)", + "abnormal genitourinary system", + "main group molecular entity", + "inorganic ion homeostasis", + "Abnormal blood phosphate concentration (HPO)", + "material entity", + "entity", "abnormal renal system", - "abnormal small molecule metabolic process", - "Glycosuria", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormal blood phosphate concentration", - "Muscle weakness", - "delayed growth", - "abnormal purine nucleobase metabolic process", + "phenotype", + "polyatomic anion", + "Abnormality of the urinary system physiology (HPO)", + "gas molecular entity", "abnormal kidney", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "abnormal biological_process", - "abnormal role bodily fluid level", - "decreased level of phosphate in blood", - "Abnormality of urine bicarbonate level", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", - "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal enzyme concentration or activity", - "Increased susceptibility to fractures", - "Abnormal muscle physiology", - "Abnormal homeostasis", - "increased level of chemical entity in urine", - "abnormal cell", - "Abnormality of acid-base homeostasis", - "abnormal acid bodily fluid level", - "Abnormal circulating fatty-acid anion concentration", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", - "Abnormality of the kidney", - "decreased level of uric acid in blood", - "abnormal independent continuant glucose level", - "increased level of purines in independent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "Abnormal blood glucose concentration", - "Lacticaciduria", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormal urine sodium concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "Abnormal circulating metabolite concentration", - "abnormal urine sodium atom level", - "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", - "decreased level of amino-acid betaine", - "non-functional anatomical entity", - "abnormal sodium atom level", - "abnormal independent continuant sodium atom level", - "Abnormality of the mitochondrion", - "abnormal independent continuant monoatomic ion level", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "abnormal blood phosphate level", - "Hypophosphatemic rickets", - "decreased level of purines", - "Rickets", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abnormal primary metabolic process", - "increased level of nitrogen molecular entity in blood", - "abnormality of anatomical entity physiology", - "abnormal urine hydrogencarbonate level", + "Renal tubular dysfunction (HPO)", "abnormal urine uric acid level", - "abnormal respiratory system", - "abnormal cellular metabolic process", - "Abnormality of fluid regulation", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "abnormal nucleobase metabolic process", - "Hypouricemia", - "abnormal metabolic process", - "decreased role blood level", - "Hypokalemia", - "Decreased circulating purine concentration", + "bicyclic compound", + "Abnormal blood glucose concentration (HPO)", + "abnormal chemical entity level", + "Decreased anatomical entity mass", + "Abnormal urine phosphate concentration (HPO)", "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", - "increased level of nitrogen molecular entity in independent continuant", - "Hypophosphatemia", - "Abnormal circulating monocarboxylic acid concentration", - "increased level of chemical entity", - "Abnormal cellular physiology", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "abnormal carboxylic acid metabolic process", - "Abnormal blood monovalent inorganic cation concentration", - "abnormal glucose homeostasis", - "abnormal mitochondrion", - "abnormal carnitine metabolic process", - "abnormal amino acid derivative level", - "abnormal fatty acid metabolic process", - "abnormal cellular process", - "Abnormal circulating carnitine concentration", - "decreased level of chemical entity in independent continuant", - "Abnormality of mitochondrial metabolism", - "abnormal independent continuant uric acid level", - "abnormal blood carnitine level", - "abnormally decreased functionality of the nephron tubule", - "Abnormal cellular phenotype", - "Hypoglycemia", - "decreased level of carnitine in independent continuant", - "Abnormal urine potassium concentration", + "anatomical system", + "abnormal independent continuant chemical entity level", + "monoatomic cation homeostasis", + "Abnormal pulmonary interstitial morphology (HPO)", + "phosphoric acid derivative", + "urine", + "organism substance", + "nucleobase-containing small molecule metabolic process", + "multicellular anatomical structure", + "thoracic cavity element", + "abnormal phenotype by ontology source", + "quality", + "metal atom", + "multicellular organism", + "carnitine", + "oxoacid metabolic process", + "abnormal hematopoietic system", + "p-block molecular entity", + "abnormal urine phosphate level", + "abnormality of muscle organ physiology", "decreased size of the anatomical entity", - "increased level of potassium atom in urine", - "Constitutional symptom", - "abnormal blood potassium atom level", + "phosphate", + "tissue", + "molecular entity", "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium(1+) level", - "Abnormal blood potassium concentration", - "Abnormal blood cation concentration", - "abnormality of musculoskeletal system physiology", - "Pain", - "Hyperchloremic metabolic acidosis", - "abnormal hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "abnormal independent continuant hydrogencarbonate level", - "increased bodily fluid acid level", - "Bicarbonaturia", - "increased independent continuant base level", - "Increased urinary potassium", - "increased level of uric acid in independent continuant", - "abnormal independent continuant protein polypeptide chain level" + "Abnormal blood oxygen level (HPO)", + "abnormal blood uric acid level", + "Abnormal blood cation concentration (HPO)", + "musculature of body", + "Abnormality of fluid regulation (HPO)", + "organelle", + "abnormal glucose homeostasis", + "abdominal segment element", + "carbon oxoanion", + "abnormal bone element mass density", + "abnormal upper urinary tract", + "Abnormal glucose homeostasis (HPO)", + "abnormality of anatomical entity physiology", + "Decreased body weight (HPO)", + "cellular_component", + "muscle structure", + "chemical entity", + "Abnormality of mitochondrial metabolism (HPO)", + "anatomical entity", + "anatomical structure", + "small molecule metabolic process", + "renal system", + "abnormal anatomical entity", + "membrane-bounded organelle", + "racemate", + "trunk region element" ], - "has_phenotype_count": 39, + "has_phenotype_count": 38, "highlight": null, "score": null } diff --git a/frontend/fixtures/histopheno.json b/frontend/fixtures/histopheno.json index 64329228a..1a8cd986c 100644 --- a/frontend/fixtures/histopheno.json +++ b/frontend/fixtures/histopheno.json @@ -3,12 +3,12 @@ "items": [ { "label": "musculature", - "count": 1685, + "count": 1689, "id": "HP:0003011" }, { "label": "nervous_system", - "count": 1076, + "count": 1077, "id": "HP:0000707" }, { @@ -18,9 +18,14 @@ }, { "label": "skeletal_system", - "count": 470, + "count": 468, "id": "HP:0000924" }, + { + "label": "respiratory", + "count": 313, + "id": "HP:0002086" + }, { "label": "eye", "count": 289, @@ -28,7 +33,7 @@ }, { "label": "metabolism_homeostasis", - "count": 215, + "count": 214, "id": "HP:0001939" }, { @@ -43,19 +48,9 @@ }, { "label": "connective_tissue", - "count": 161, + "count": 160, "id": "HP:0003549" }, - { - "label": "respiratory", - "count": 150, - "id": "HP:0002086" - }, - { - "label": "neoplasm", - "count": 149, - "id": "HP:0002664" - }, { "label": "digestive_system", "count": 143, @@ -96,6 +91,11 @@ "count": 21, "id": "HP:0001197" }, + { + "label": "neoplasm", + "count": 7, + "id": "HP:0002664" + }, { "label": "breast", "count": 1, diff --git a/frontend/fixtures/mappings.json b/frontend/fixtures/mappings.json index 04d67a9f3..b6025fe5e 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": "5292faf1-de01-4ad1-bff6-f153901a7152" + "id": "79cebb50-dc15-427f-b98f-07fafbc2233e" }, { "subject_id": "MONDO:0020121", @@ -19,7 +19,7 @@ "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "aca5243c-67ba-4b1c-ac88-6c53853a2cdb" + "id": "eb2edd42-6ff7-4a82-bf6b-607b03f6a7c0" }, { "subject_id": "MONDO:0020121", @@ -28,7 +28,7 @@ "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "aa8b03b3-d02f-44b3-9256-8aee2c4400d8" + "id": "ca35bb5b-62a1-4e75-a43e-03e43352391f" }, { "subject_id": "MONDO:0020121", @@ -37,7 +37,7 @@ "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "f9362b76-05fe-4666-96b0-854bb2898567" + "id": "cf655e90-9c26-4fea-a78d-925aa43e2581" }, { "subject_id": "MONDO:0020121", @@ -46,7 +46,7 @@ "object_id": "SCTID:73297009", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "b889cc72-99b6-423e-932a-4a3b4be9daef" + "id": "6fccb876-27ff-43e4-aeba-8cc362a6d134" }, { "subject_id": "MONDO:0020121", @@ -55,7 +55,7 @@ "object_id": "UMLS:C0026850", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "24b22775-d7c7-4aee-ad6d-f61e1fee1ce4" + "id": "a4a8fd62-7c76-47e6-82b2-2dc0f4e0651f" }, { "subject_id": "MONDO:0020121", @@ -64,7 +64,7 @@ "object_id": "mesh:D009136", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "96aa0222-74bd-4749-b777-ae2632461adf" + "id": "fa9fb840-d371-4eb9-bc1f-434abdb145e9" } ] } diff --git a/frontend/fixtures/node.json b/frontend/fixtures/node.json index 7504fc9c9..96fbba220 100644 --- a/frontend/fixtures/node.json +++ b/frontend/fixtures/node.json @@ -59,12 +59,12 @@ "association_counts": [ { "label": "Phenotypes", - "count": 3875, + "count": 3873, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { "label": "Causal Genes", - "count": 125, + "count": 124, "category": "biolink:CausalGeneToDiseaseAssociation" }, { @@ -162,9 +162,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010311", + "id": "MONDO:0019950", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "congenital muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -183,9 +183,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010675", + "id": "MONDO:0023204", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "Fukuda-Miyanomae-Nakata syndrome", "full_name": null, "deprecated": null, "description": null, @@ -204,9 +204,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010676", + "id": "MONDO:0100228", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "LAMA2-related muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -225,9 +225,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010677", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "Becker muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -246,9 +246,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010678", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "muscular dystrophy, cardiac type", "full_name": null, "deprecated": null, "description": null, @@ -267,9 +267,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010679", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": null, "deprecated": null, "description": null, @@ -288,9 +288,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0016106", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "progressive muscular dystrophy", + "name": "muscular dystrophy, Mabry type", "full_name": null, "deprecated": null, "description": null, @@ -309,9 +309,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0018949", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": null, "deprecated": null, "description": null, @@ -330,9 +330,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0019950", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "congenital muscular dystrophy", + "name": "Duchenne muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -351,9 +351,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0023204", + "id": "MONDO:0016106", "category": "biolink:Disease", - "name": "Fukuda-Miyanomae-Nakata syndrome", + "name": "progressive muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -372,9 +372,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0100228", + "id": "MONDO:0018949", "category": "biolink:Disease", - "name": "LAMA2-related muscular dystrophy", + "name": "distal myopathy", "full_name": null, "deprecated": null, "description": null, diff --git a/frontend/fixtures/phenotype-explorer-compare.json b/frontend/fixtures/phenotype-explorer-compare.json index 294f40840..9f71ec202 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 (MPO)" - }, "MP:0010771": { "id": "MP:0010771", "label": "integument phenotype (MPO)" + }, + "MP:0002169": { + "id": "MP:0002169", + "label": "no abnormal phenotype detected (MPO)" } }, "object_termset": { @@ -75,8 +75,8 @@ "HP:0004325": { "match_source": "HP:0004325", "match_source_label": "Decreased body weight (HPO)", - "match_target": "MP:0010771", - "match_target_label": "integument phenotype (MPO)", + "match_target": "MP:0002169", + "match_target_label": "no abnormal phenotype detected (MPO)", "score": 1.5540019332516637, "match_subsumer": null, "match_subsumer_label": null, @@ -84,7 +84,7 @@ "subject_id": "HP:0004325", "subject_label": null, "subject_source": null, - "object_id": "MP:0010771", + "object_id": "MP:0002169", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0001003", @@ -93,10 +93,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 1.5540019332516637, - "jaccard_similarity": 0.24, + "jaccard_similarity": 0.23076923076923078, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.61070489107293 + "phenodigm_score": 0.5988454147360435 } } }, diff --git a/frontend/fixtures/phenotype-explorer-search.json b/frontend/fixtures/phenotype-explorer-search.json index 47efc4cb7..418d721d7 100644 --- a/frontend/fixtures/phenotype-explorer-search.json +++ b/frontend/fixtures/phenotype-explorer-search.json @@ -1,14 +1,14 @@ { "items": [ - "{\"subject\":{\"id\":\"ZFIN:ZDB-GENE-990415-269\",\"category\":\"biolink:Gene\",\"name\":\"tpma\",\"full_name\":\"alpha-tropomyosin\",\"deprecated\":null,\"description\":null,\"xref\":[\"NCBIGene:30324\",\"ENSEMBL:ENSDARG00000033683\",\"UniProtKB:P13104\",\"PANTHER:PTHR19269\",\"ZFIN:ZDB-GENE-990415-269\"],\"provided_by\":\"alliance_gene_nodes\",\"in_taxon\":\"NCBITaxon:7955\",\"in_taxon_label\":\"Danio rerio\",\"symbol\":\"tpma\",\"synonym\":[\"TPM1-2 alpha\",\"wu:fb37a09\",\"tm\",\"fb37a09\",\"tropomyosin alpha chain\"],\"uri\":\"https://identifiers.org/zfin/ZDB-GENE-990415-269\",\"namespace\":\"ZFIN\",\"has_phenotype\":[\"ZP:0018569\"],\"has_phenotype_label\":[\"myeloid cell development absent, 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"biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", + "name": "Renal Fanconi syndrome (HPO)", "full_name": null, "deprecated": 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.", @@ -16,7 +16,7 @@ "in_taxon_label": null, "symbol": null, "synonym": [ - "De toni-fanconi-debre syndrome", + "'de toni-fanconi-debre' syndrome", "Renal tubular fanconi syndrome" ], "uri": null, @@ -65,7 +65,6 @@ "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0005344", "HP:0002023", "HP:0001824", @@ -79,18 +78,19 @@ "HP:0001882", "HP:0002863", "HP:0002119", - "HP:0001510", + "HP:0001562", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", - "HP:0001562", + "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006824", "HP:0006265", @@ -162,2089 +162,3100 @@ "HP:0001000" ], "has_phenotype_label": [ - "Upslanted palpebral fissure", - "Absent testis", - "Abnormal pinna morphology", - "Tracheoesophageal fistula", - "Astigmatism", - "Hydrocephalus", - "Intellectual disability", - "Abnormal preputium morphology", - "Arteriovenous malformation", - "Abnormal morphology of ulna", - "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", - "Abnormal carotid artery morphology", - "Anal atresia", - "Weight loss", - "Cataract", - "Ptosis", - "Choanal atresia", - "Hypospadias", - "Almond-shaped palpebral fissure", - "Scoliosis", - "Microcephaly", - "Leukopenia", - "Myelodysplasia", - "Ventriculomegaly", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the hypothalamus-pituitary axis", - "Hypertelorism", - "Azoospermia", - "Oligohydramnios", - "Duodenal stenosis", - "Clubbing of toes", - "Abnormal localization of kidney", - "Decreased fertility in males", - "Aplasia/Hypoplasia of the uvula", - "Renal hypoplasia/aplasia", - "Multiple cafe-au-lait spots", - "Cranial nerve paralysis", - "Aplasia/Hypoplasia of fingers", - "Finger syndactyly", - "Reduced bone mineral density", - "Clinodactyly of the 5th finger", - "Hypoplasia of the ulna", - "Hip dislocation", - "Abnormality of femur morphology", - "Spina bifida", - "Aganglionic megacolon", - "Meckel diverticulum", - "Frontal bossing", - "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", - "Umbilical hernia", - "Intrauterine growth retardation", - "Hyperreflexia", - "Triphalangeal thumb", - "Bicornuate uterus", - "Nystagmus", - "Microphthalmia", - "Proptosis", - "Visual impairment", - "Abnormality of vision", - "Abnormal eyelid morphology", - "Strabismus", - "Abnormality of the eye", - "Hearing impairment", - "Hearing abnormality", - "Micrognathia", - "Sloping forehead", - "Facial asymmetry", - "Epicanthus", - "Dolichocephaly", - "High palate", - "Cleft palate", - "Hypogonadism", - "Abnormality of the uterus", - "Renal insufficiency", - "Hydroureter", - "Abnormal testis morphology", - "Cryptorchidism", - "Recurrent urinary tract infections", - "Short palpebral fissure", - "Abnormal renal morphology", - "Neoplasm", - "Abnormal cardiac septum morphology", - "Global developmental delay", - "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", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Abnormal thumb morphology", - "Hypopigmented skin patches", - "Abnormality of skin pigmentation" + "Upslanted palpebral fissure (HPO)", + "Absent testis (HPO)", + "Abnormal pinna morphology (HPO)", + "Tracheoesophageal fistula (HPO)", + "Astigmatism (HPO)", + "Hydrocephalus (HPO)", + "Intellectual disability (HPO)", + "Abnormal preputium morphology (HPO)", + "Arteriovenous malformation (HPO)", + "Abnormal morphology of ulna (HPO)", + "Abnormal nervous system morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "Anal atresia (HPO)", + "Weight loss (HPO)", + "Cataract (HPO)", + "Ptosis (HPO)", + "Choanal atresia (HPO)", + "Hypospadias (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Scoliosis (HPO)", + "Microcephaly (HPO)", + "Leukopenia (HPO)", + "Myelodysplasia (HPO)", + "Ventriculomegaly (HPO)", + "Oligohydramnios (HPO)", + "Abnormality of the liver (HPO)", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "Hypertelorism (HPO)", + "Azoospermia (HPO)", + "Growth delay (HPO)", + "Duodenal stenosis (HPO)", + "Clubbing of toes (HPO)", + "Abnormal localization of kidney (HPO)", + "Decreased fertility in males (HPO)", + "Aplasia/Hypoplasia of the uvula (HPO)", + "Renal hypoplasia/aplasia (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "Multiple cafe-au-lait spots (HPO)", + "Cranial nerve paralysis (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Finger syndactyly (HPO)", + "Reduced bone mineral density (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "Hypoplasia of the ulna (HPO)", + "Hip dislocation (HPO)", + "Abnormality of femur morphology (HPO)", + "Spina bifida (HPO)", + "Aganglionic megacolon (HPO)", + "Meckel diverticulum (HPO)", + "Frontal bossing (HPO)", + "Toe syndactyly (HPO)", + "Pes planus (HPO)", + "Abnormal foot morphology (HPO)", + "Abnormal aortic morphology (HPO)", + "Abnormal aortic valve morphology (HPO)", + "Patent ductus arteriosus (HPO)", + "Hypertrophic cardiomyopathy (HPO)", + "Tetralogy of Fallot (HPO)", + "Atrial septal defect (HPO)", + "Umbilical hernia (HPO)", + "Intrauterine growth retardation (HPO)", + "Hyperreflexia (HPO)", + "Triphalangeal thumb (HPO)", + "Bicornuate uterus (HPO)", + "Nystagmus (HPO)", + "Microphthalmia (HPO)", + "Proptosis (HPO)", + "Visual impairment (HPO)", + "Abnormality of vision (HPO)", + "Abnormal eyelid morphology (HPO)", + "Strabismus (HPO)", + "Abnormality of the eye (HPO)", + "Hearing impairment (HPO)", + "Hearing abnormality (HPO)", + "Micrognathia (HPO)", + "Sloping forehead (HPO)", + "Facial asymmetry (HPO)", + "Epicanthus (HPO)", + "Dolichocephaly (HPO)", + "High palate (HPO)", + "Cleft palate (HPO)", + "Hypogonadism (HPO)", + "Abnormality of the uterus (HPO)", + "Renal insufficiency (HPO)", + "Hydroureter (HPO)", + "Abnormal testis morphology (HPO)", + "Cryptorchidism (HPO)", + "Recurrent urinary tract infections (HPO)", + "Short palpebral fissure (HPO)", + "Abnormal renal morphology (HPO)", + "Neoplasm (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "Global developmental delay (HPO)", + "Abnormality of the urinary system (HPO)", + "Irregular hyperpigmentation (HPO)", + "Aplasia/Hypoplasia of the radius (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "Short stature (HPO)", + "Abnormality of chromosome stability (HPO)", + "Abnormality of the upper limb (HPO)", + "Anemia (HPO)", + "Thrombocytopenia (HPO)", + "Abnormality of blood and blood-forming tissues (HPO)", + "Abnormal thumb morphology (HPO)", + "Hypopigmented skin patches (HPO)", + "Abnormality of skin pigmentation (HPO)" ], "has_phenotype_closure": [ - "UPHENO:0042775", - "UPHENO:0077885", - "HP:0001053", "UPHENO:0077872", - "UPHENO:0077892", - "UPHENO:0086005", - "UPHENO:0086049", - "UPHENO:0085189", - "UPHENO:0084987", - "UPHENO:0086173", - "UPHENO:0085070", - "HP:0001939", - "HP:0003220", - "UPHENO:0080351", - "UPHENO:0081424", - "UPHENO:0085068", - "UPHENO:0085118", - "HP:0001877", + "HP:0001053", + "HP:0001872", + "HP:0011873", + "CL:0000233", + "CL:0000225", + "HP:0011017", + "GO:0005623", + "GO:0048871", + "GO:0048869", + "HP:0012130", "HP:0025461", - "HP:0005522", - "UPHENO:0088162", "HP:0020047", - 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"RO:0002577", + "UPHENO:0021791", + "UBERON:5106048", + "UPHENO:0075696", + "UPHENO:0021038", + "UBERON:0000468", + "UBERON:0007832", + "HP:0010469", + "UBERON:0001766", + "UPHENO:0021746", + "UPHENO:0084448", + "UBERON:0002365", + "UPHENO:0050622", + "HP:0030311", + "HP:0012372", + "BFO:0000020", + "HP:0002650", + "UBERON:0004054", + "UBERON:0003697", + "HP:0030962", + "UBERON:0004905", + "UBERON:0000010", + "UBERON:0011676", + "GO:0050877", + "UPHENO:0004523", + "HP:0000035", + "UBERON:0010000", + "UPHENO:0041525", + "HP:0033353", + "HP:0032039", + "UBERON:0001460", + "UBERON:0000466", + "UBERON:0000033", + "UBERON:0001032", + "UBERON:0003498", + "HP:0001643", + "UBERON:0004086", + "UPHENO:0001003", + "UBERON:0000463", + "UBERON:5102389", + "UBERON:0010409", + "UBERON:0012358", + "UBERON:0001043", + "HP:0010978", + "UBERON:0004089", + "UBERON:0004111", + "UBERON:0004710", + "HP:0001924", + "UBERON:0003620", + "UBERON:0034921", + "UPHENO:0076692", + "UPHENO:0054957", + "UPHENO:0077885", + "UPHENO:0001005", + "HP:0004325", + "UPHENO:0042834", + "HP:0000481", + "UBERON:0016529", + "HP:0100691", + "UBERON:0010314", + "HP:0030791", + "CL:0000003", + "BFO:0000003", + "UBERON:0007811", + "UPHENO:0050620", + "UBERON:0004122", + "UPHENO:0002844", + "GO:0042592", + "UBERON:0001711", + "UBERON:0002387", + "HP:0012331", + "HP:0008050", + "UPHENO:0063599", + "UPHENO:0002536", + "HP:0000813", + "UPHENO:0080382", + "UBERON:0002417", + "HP:0002270", + "UPHENO:0076730", + "UBERON:0000047", + "UPHENO:0049985", + "UBERON:0015203", + "UPHENO:0041821", + "UPHENO:0002595", + "HP:0000153", + "UPHENO:0002433", + "UBERON:0004456", + "BFO:0000040", + "HP:0012639", + "HP:0012443", + "UBERON:0001530", + "HP:0000025", + "UBERON:0000467", + "UBERON:0000064", + "UBERON:0006800", + "CL:0002242", + "UBERON:0000160", + "UPHENO:0002719", + "UPHENO:0020998", + "UPHENO:0021447", + "UPHENO:0079828", + "UBERON:0035639", + "UBERON:5001463", + "UBERON:0000019", + "UPHENO:0015280", + "HP:0040069", + "UBERON:0005401", + "UBERON:0000179", + "HP:0030669", + "UBERON:0001449", + "HP:0001667", "HP:0004349", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0087203", - "UPHENO:0082834", - "HP:0004209", - "UPHENO:0084511", - "UPHENO:0086144", - "HP:0004097", - "HP:0009179" + "HP:0000508", + "HP:0000377", + "UPHENO:0068971", + "HP:0000234", + "UPHENO:0041146", + "HP:0000505", + "GO:0007276", + "UBERON:0000465", + "HP:0000582", + "UBERON:0013765", + "UPHENO:0049940", + "UBERON:0010230" ], "has_phenotype_closure_label": [ - "decreased qualitatively pigmentation", - "Hypopigmented skin patches", - "decreased pigmentation in skin of body", - "Hypopigmentation of the skin", "decreased pigmentation in multicellular organism", - "abnormal blood cell morphology", - "abnormal platelet morphology", - "Thrombocytopenia", - "Abnormal platelet count", - "abnormal blood cell", + "decreased biological_process in skin of body", + "decreased pigmentation in skin of body", + "Thrombocytopenia (HPO)", + "anucleate cell", + "serotonin secreting cell", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "Abnormality of body height (HPO)", + "decreased size of the multicellular organism", "decreased height of the anatomical entity", - "Abnormality of body height", - "abnormal erythrocyte morphology", - "Abnormal myeloid cell morphology", - "abnormal hematopoietic cell morphology", - "Abnormal cell morphology", - "Sideroblastic anemia", - "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", - "decreased length of palpebral fissure", - "Recurrent urinary tract infections", - "Unusual infection", - "Abnormality of immune system physiology", - "abnormal ureter", - "Abnormal ureter morphology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", + "abnormality of multicellular organism height", + "Hypopigmentation of the skin (HPO)", + "Anemia (HPO)", + "oxygen accumulating cell", + "Abnormal cell morphology (HPO)", + "myeloid cell", + "blood cell", + "homeostatic process", + "cellular process", + "Abnormal erythroid lineage cell morphology (HPO)", + "erythrocyte differentiation", + "myeloid cell differentiation", + "cell differentiation", + "myeloid cell homeostasis", + "cellular developmental process", + "Abnormality of the radius (HPO)", + "Abnormal cellular physiology (HPO)", + "abnormal radius bone", + "radius bone", + "Global developmental delay (HPO)", + "Short palpebral fissure (HPO)", + "abnormal size of palpebral fissure", + "Abnormality of immune system physiology (HPO)", + "abnormality of immune system physiology", + "abnormally localised anatomical entity", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "renal pelvis/ureter", + "Abnormal ureter morphology (HPO)", + "abnormal ureter morphology", + "ureter", "abnormality of renal system physiology", - "Puberty and gonadal disorders", - "abnormally decreased functionality of the gonad", + "hard palate", + "abnormal incomplete closing of the secondary palate", + "Abnormal hard palate morphology (HPO)", "Orofacial cleft", - "High palate", - "increased height of anatomical entity in independent continuant", - "abnormality of anatomical entity height", - "Dolichocephaly", - "increased size of the head", - "abnormal size of head", - "abnormal skin of face morphology", + "increased height of the secondary palate", "abnormal skin of head morphology", + "increased length of the epicanthal fold", + "skin of head", + "epicanthal fold", + "abnormal skin of face morphology", + "upper eyelid", + "head or neck skin", + "Facial asymmetry (HPO)", + "abnormal face morphology", + "abnormal shape of forehead", + "sloped forehead", "abnormal forehead morphology", - "abnormally localised anatomical entity", - "Micrognathia", - "aplasia or hypoplasia of mandible", - "decreased size of the mandible", + "jaw skeleton", "aplasia or hypoplasia of skull", - "facial bone hypoplasia", - "Aplasia/Hypoplasia involving bones of the skull", "mandible hypoplasia", "anatomical entity hypoplasia in face", - "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "Facial asymmetry", - "abnormal sensory perception of sound", + "bone of lower jaw", + "Micrognathia (HPO)", + "Hypoplastic facial bones (HPO)", + "dentary", + "facial bone hypoplasia", + "decreased biological_process in independent continuant", + "Abnormal jaw morphology (HPO)", + "abnormal mandible morphology", + "Abnormal mandible morphology (HPO)", + "aplasia or hypoplasia of mandible", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal asymmetry of anatomical entity", "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", + "Hearing impairment (HPO)", + "Abnormality of vision (HPO)", + "visual perception", + "sensory perception", + "decreased qualitatively visual perception", + "Proptosis (HPO)", + "Microphthalmia (HPO)", "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "Cryptorchidism", - "Nystagmus", - "abnormality of ear physiology", - "Abnormal vestibular function", - "abnormal vestibulo-ocular reflex", + "Abnormality of globe size (HPO)", "abnormal internal ear", - "abnormal female reproductive system", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "Abnormal involuntary eye movements (HPO)", + "Abnormal vestibulo-ocular reflex (HPO)", + "Vestibular dysfunction (HPO)", + "Strabismus (HPO)", + "Functional abnormality of the inner ear (HPO)", + "internal ear", + "Abnormality of eye movement (HPO)", + "Abnormality of the inner ear (HPO)", + "abnormality of ear physiology", + "abnormality of internal ear physiology", + "abnormal eye movement", + "female reproductive system", + "female organism", "shape uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "Abnormality of the uterus", + "internal female genitalia", + "sensory perception of sound", + "female reproductive organ", + "uterus", + "skin of eyelid", + "bicornuate anatomical entity", + "Abnormal morphology of female internal genitalia (HPO)", + "bicornuate uterus", + "decreased qualitatively sensory perception of sound", + "subdivision of oviduct", "abnormal uterus", - "abnormal phalanx of manus morphology", - "Abnormal finger phalanx morphology", - "Abnormality of thumb phalanx", - "Triphalangeal thumb", - "increased reflex", - "Hyperreflexia", + "Abnormal uterus morphology (HPO)", + "manual digit 1 plus metapodial segment", + "skeleton of manual acropodium", + "abnormally decreased functionality of the gonad", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "Abnormal finger phalanx morphology (HPO)", + "manual digit 1 phalanx endochondral element", + "phalanx of manus", + "Abnormal thumb morphology (HPO)", + "body part movement", + "voluntary movement behavior", + "decreased qualitatively pigmentation in independent continuant", "abnormal behavior", + "Abnormality of movement (HPO)", + "Behavioral abnormality (HPO)", + "Hyperreflexia (HPO)", + "neuromuscular process", + "Visual impairment (HPO)", + "voluntary musculoskeletal movement", + "behavior process", + "reflex", + "abnormal response to external stimulus", "abnormal musculoskeletal movement", - "increased qualitatively response to stimulus", + "multicellular organismal movement", + "abnormal voluntary movement behavior", "decreased embryo development", - "abnormal embryo development", - "Intrauterine growth retardation", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal umbilicus morphology", - "Abnormality of connective tissue", - "shape forehead", - "herniated abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Intrauterine growth retardation (HPO)", + "connective tissue", + "abdominal viscera", + "biogenic amine secreting cell", + "changed embryo development rate", + "abdominal wall", + "abnormal incomplete closing of the abdominal wall", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal cardiac atrium morphology (HPO)", + "Abnormality of the ureter (HPO)", + "interatrial septum", + "Atrial septal defect (HPO)", + "Abnormal atrial septum morphology (HPO)", + "abnormal cardiac atrium morphology", "abnormal interatrial septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "Abnormal cardiac septum morphology", + "Abnormal heart valve physiology (HPO)", + "interventricular septum", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", + "hypertrophic heart right ventricle", + "Abnormal cardiac ventricle morphology (HPO)", + "Abnormality of the uterus (HPO)", + "Abnormal pulmonary valve physiology (HPO)", + "abnormal incomplete closing of the interventricular septum", + "Overriding aorta (HPO)", + "abnormal size of heart right ventricle", "abnormally increased volume of anatomical entity", - "Tetralogy of Fallot", - "abnormal heart right ventricle morphology", - "Ventricular hypertrophy", - "Right ventricular hypertrophy", + "Tetralogy of Fallot (HPO)", + "abnormal pulmonary valve morphology", + "abnormal cardiac ventricle morphology in the heart", + "cardiac septum", + "Pulmonic stenosis (HPO)", + "right cardiac chamber", + "decreased qualitatively biological_process in independent continuant", + "abnormal behavior process", + "constricted pulmonary valve", + "abnormal cardiac ventricle morphology in the independent continuant", "abnormal cardiac septum morphology", - "Overriding aorta", - "abnormal interventricular septum morphology", - "abnormally decreased functionality of the anatomical entity", + "anatomical entity dysfunction in independent continuant", + "myocardium", + "Abnormal myocardium morphology (HPO)", "abnormally decreased functionality of the myocardium", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", - "abnormal aortic valve morphology", - "abnormal anatomical entity morphology in the heart", - "abnormal outflow part of left ventricle morphology", - "abnormal eye movement", + "abnormally decreased functionality of the anatomical entity", + "Hypertrophic cardiomyopathy (HPO)", + "abnormal coronary vessel morphology", + "conceptus", + "abnormal systemic artery morphology", + "vasculature of organ", + "vasculature of trunk", + "heart blood vessel", + "abnormal artery morphology", + "thoracic segment blood vessel", "abnormal artery morphology in the independent continuant", - "abnormal cardiac valve morphology in the independent continuant", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "Abnormal aortic morphology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "flat longitudinal arch of pes", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", - "Abnormal calvaria morphology", - "abnormal neurocranium morphology", - "Abnormal cerebral cortex morphology", - "abnormally protruding anatomical entity", - "Abnormal shape of the frontal region", - "flat anatomical entity", - "abnormal cerebral cortex morphology", + "Congenital malformation of the great arteries (HPO)", + "embryonic cardiovascular system", + "abnormal ductus arteriosus morphology", + "Unusual infection (HPO)", + "outflow tract", + "abnormal embryo development", + "abnormal abdominal wall", + "abnormal cardial valve morphology in the independent continuant", + "lower jaw region", + "abnormal uterus morphology", + "valve", + "aplasia or hypoplasia of radius bone", + "Abnormal aortic valve morphology (HPO)", + "semi-lunar valve", + "cardiac ventricle", + "Aplasia/Hypoplasia involving bones of the skull (HPO)", + "outflow tract of ventricle", + "heart plus pericardium", + "outflow part of left ventricle", + "aortic system", + "abnormal aorta morphology", + "Abnormal aortic morphology (HPO)", + "thoracic cavity blood vessel", + "great vessel of heart", + "flattened anatomical entity", + "flat anatomical entity in independent continuant", + "Toe syndactyly (HPO)", + "abnormal facial skeleton morphology", + "Aplasia/Hypoplasia of the radius (HPO)", + "Frontal bossing (HPO)", + "central nervous system gray matter layer", + "dermal bone", + "pallium", + "facial skeleton", + "central nervous system cell part cluster", "abnormal shape of frontal cortex", + "frontal cortex", + "cortex of cerebral lobe", + "neurocranium", + "secretory cell", + "bone of craniocervical region", + "heart layer", + "intramembranous bone", + "Ventricular hypertrophy (HPO)", + "membrane bone", + "abnormal forehead", "abnormal frontal cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", + "cerebral hemisphere gray matter", + "forehead", + "abnormal tetrapod frontal bone morphology", + "Abnormal facial skeleton morphology (HPO)", + "abnormal cerebral cortex morphology", + "primary subdivision of cranial skeletal system", + "abnormal spatial pattern of anatomical entity", + "vault of skull", + "dermal skeleton", + "dermatocranium", + "cerebral hemisphere", + "Abnormality of calvarial morphology (HPO)", "abnormal vault of skull", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal size of heart right ventricle", - "Meckel diverticulum", + "abnormal ileum morphology", + "Abnormal ileum morphology (HPO)", + "ganglion of peripheral nervous system", + "decreased pigmentation in independent continuant", + "neocortex", + "parasympathetic ganglion", + "Bicornuate uterus (HPO)", + "autonomic nervous system", + "abnormal ganglion of peripheral nervous system", + "Abnormal platelet morphology (HPO)", + "Abnormality of enteric ganglion morphology (HPO)", "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal ganglion morphology", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Hernia", - "Vertebral arch anomaly", - "decreased biological_process in skin of body", + "platelet", + "enteric ganglion", + "Abnormal autonomic nervous system morphology (HPO)", + "Aganglionic megacolon (HPO)", + "decreased length of palpebral fissure", + "abnormal parasympathetic ganglion morphology", "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "abnormal vertebral column morphology", - "Spinal dysraphism", - "Abnormal vertebral morphology", - "Abnormal spinal cord morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "abnormal bony vertebral centrum morphology", - "abnormal opening of the anatomical entity", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "abnormal neural tube morphology", - "Neural tube defect", - "abnormal shape of forehead", + "abnormal ganglion", + "involuntary movement behavior", + "abnormal enteric nervous system morphology", + "dorsal region element", + "neural tube", + "presumptive structure", + "reflexive behavior", "abnormal tube formation", + "Abnormality of the spinal cord (HPO)", + "manual digit 1", + "neural tube closure", + "chordate embryonic development", + "spinal cord", + "Spinal dysraphism (HPO)", + "abnormal heart morphology", + "tube development", + "embryonic morphogenesis", + "tube morphogenesis", + "bony vertebral centrum", + "irregular bone", + "Increased head circumference (HPO)", + "future central nervous system", + "vertebral centrum element", + "arch of centrum of vertebra", + "vertebral element", + "abnormal neural tube morphology", + "Vertebral arch anomaly (HPO)", + "cerebral cortex", + "gray matter of forebrain", "abnormal incomplete closing of the arch of centrum of vertebra", - "abnormal size of palpebral fissure", + "neural tube formation", + "primary neural tube formation", + "abnormal development of anatomical entity", + "Neural tube defect (HPO)", + "embryonic structure", + "developing anatomical structure", + "decreased size of the mandible", + "Patent ductus arteriosus (HPO)", + "Abnormality of enteric nervous system morphology (HPO)", + "Abnormal form of the vertebral bodies (HPO)", + "abnormal vertebral column morphology", + "epithelium development", + "morphogenesis of an epithelium", + "epithelial tube morphogenesis", + "embryo development ending in birth or egg hatching", + "shape longitudinal arch of pes", + "embryo development", + "dorsum", + "Abnormal vertebral morphology (HPO)", + "abnormal vertebra morphology", + "anatomical structure development", + "anatomical structure morphogenesis", + "Spina bifida (HPO)", + "bone of hip region", + "Abnormal morphology of the great vessels (HPO)", + "hindlimb stylopod", "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "Abnormality of femur morphology", + "upper leg bone", + "abnormal voluntary musculoskeletal movement", + "Abnormality of femur morphology (HPO)", + "femur endochondral element", + "leg bone", "abnormal femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal synovial joint morphology", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "anatomical entity dislocation", - "Joint dislocation", - "Abnormal joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Lower extremity joint dislocation", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Aplasia/hypoplasia involving forearm bones", - "Sloping forehead", + "sensory perception of mechanical stimulus", + "hip", + "neurocranium bone", + "pelvic girdle bone/zone", + "vestibulo-ocular reflex", + "Abnormal hip joint morphology (HPO)", + "Abnormal joint morphology (HPO)", + "articulation", + "abnormal phalanx morphology", + "tetrapod frontal bone", + "limb joint", + "pelvic region element", + "excretory tube", + "hip joint", + "abnormal synovial joint", + "girdle bone/zone", + "abnormal hindlimb joint", + "Abdominal wall defect (HPO)", + "Right ventricular hypertrophy (HPO)", + "zone of bone organ", + "skeletal joint", + "girdle skeleton", + "Abnormality of pelvic girdle bone morphology (HPO)", + "Lower extremity joint dislocation (HPO)", + "Abnormal hip bone morphology (HPO)", + "appendage girdle region", + "neural tube development", + "articular system", "decreased size of the ulna", - "Forearm undergrowth", - "forelimb zeugopod bone hypoplasia", - "decreased size of the anatomical entity in the pectoral complex", + "anatomical entity hypoplasia", + "ulna hypoplasia", "decreased length of anatomical entity in independent continuant", - "Hypoplasia of the ulna", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Aplasia/Hypoplasia affecting the uvea", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", - "abnormal iris morphology", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal penis", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal limb morphology", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal voluntary movement behavior", - "Abnormal forearm bone morphology", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", - "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormal skeletal morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "Ventriculomegaly", - "sloped anatomical entity", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "Abnormality of cardiovascular system morphology", + "decreased length of forelimb zeugopod bone", + "aplasia or hypoplasia of ulna", + "Aplasia/Hypoplasia of the ulna (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "Forearm undergrowth (HPO)", + "decreased size of the anatomical entity", + "abnormal myocardium morphology", + "Short long bone (HPO)", + "decreased length of long bone", + "bone element hypoplasia in independent continuant", + "Short forearm (HPO)", + "Aplasia/hypoplasia involving forearm bones (HPO)", + "Clinodactyly of the 5th finger (HPO)", + "musculoskeletal movement", + "digit 1 or 5", + "aorta", + "manual digit 5", + "manual digit 1 or 5", + "Abnormality of metabolism/homeostasis (HPO)", + "tube closure", + "digit 5 plus metapodial segment", + "Abnormal 5th finger morphology (HPO)", + "abnormal manual digit 5 morphology", + "Decreased bone element mass density", + "cardiac atrium", + "Reduced bone mineral density (HPO)", + "Abnormality of the abdominal wall (HPO)", + "ossification", + "Abnormality of bone mineral density (HPO)", + "Decreased anatomical entity mass density", + "Finger syndactyly (HPO)", + "abnormal anatomical entity morphology in the manus", + "abnormally fused digit and anatomical entity", + "abnormally fused manual digit and manual digit", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Aplasia/hypoplasia of the extremities (HPO)", + "Abnormality of the hand (HPO)", + "abnormal manus", + "tissue morphogenesis", + "abnormal manus morphology", + "manus", + "segment of manus", + "Aplasia/hypoplasia involving the skeleton (HPO)", + "Aplasia/hypoplasia involving bones of the upper limbs (HPO)", + "Aplasia/hypoplasia involving bones of the hand (HPO)", + "Aplasia/Hypoplasia of fingers (HPO)", + "Abnormality of finger (HPO)", + "peripheral nervous system", + "paralysed cranial nerve", + "abnormal biological_process", + "Cranial nerve paralysis (HPO)", + "Abnormal myeloid cell morphology (HPO)", + "abnormal vasculature", + "nerve of head region", + "Abnormal bone structure (HPO)", + "abnormality of internal male genitalia physiology", + "abnormal brain ventricle/choroid plexus morphology", + "multi cell part structure", "abnormal respiratory system", - "abnormal bone of pectoral complex morphology", - "abnormal embryo morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal vascular system morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", - "Neurodevelopmental abnormality", - "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", - "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal ileum morphology", + "oral cavity", + "Abnormality of the peripheral nervous system (HPO)", + "paralysed anatomical entity", + "lobe of cerebral hemisphere", + "Abnormal cranial nerve physiology (HPO)", + "cranial neuron projection bundle", + "abnormal aortic valve morphology", + "abnormality of cranial nerve physiology", "increased qualitatively biological_process in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", - "abnormal central nervous system morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", - "abnormal manus", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormal cerebrospinal fluid morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", + "Multiple cafe-au-lait spots (HPO)", + "increased pigmentation in independent continuant", + "pigmentation", + "manual digitopodium bone", + "increased biological_process in independent continuant", + "Abnormality of the forearm (HPO)", + "abnormal skin of body morphology", + "Abnormality of the skin (HPO)", + "Abnormal esophagus morphology (HPO)", + "Abnormality of skin pigmentation (HPO)", + "increased pigmentation in skin of body", + "epithelial tube formation", + "Abnormal tracheobronchial morphology (HPO)", + "Cafe-au-lait spot (HPO)", + "Localized skin lesion (HPO)", + "pelvic girdle skeleton", + "Abnormal peripheral nervous system morphology (HPO)", + "decreased length of anatomical entity", + "Abnormal uvea morphology (HPO)", + "abnormal kidney morphology", + "anterior uvea", + "Aplasia/Hypoplasia affecting the eye (HPO)", + "abnormal internal female genitalia morphology", + "Aplasia/Hypoplasia affecting the anterior segment of the eye (HPO)", + "abnormal anterior segment of eyeball morphology", + "thoracic segment of trunk", + "abnormally formed anatomical entity in independent continuant", + "Abnormality of the autonomic nervous system (HPO)", + "abnormally formed anatomical entity", + "abnormal soft palate", + "abnormally fused anatomical entity and anatomical entity", + "Abnormal cellular immune system morphology (HPO)", + "aplasia or hypoplasia of palatine uvula", + "soft palate", + "roof of mouth", + "abnormal response to stimulus", + "morphological feature", "abnormal location of anatomical entity", - "abnormal anatomical entity", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "shape cornea", - "abnormal artery morphology", - "Abnormal forearm morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "Microphthalmia", - "abnormal external ear morphology", - "abnormal vein morphology", - "Decreased body weight", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "Abnormal small intestine morphology", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", - "abnormal cornea, asymmetrically curved", - "curvature anatomical entity", - "abnormal pes morphology", - "increased height of the anatomical entity", - "Limb undergrowth", + "abnormal oral cavity morphology", + "Abnormal hand morphology (HPO)", + "trachea", + "mouth", + "Abnormal heart valve morphology (HPO)", + "midface", + "Aplasia/Hypoplasia of the uvula (HPO)", + "systemic arterial system", + "anatomical projection", + "abnormal size of multicellular organism", + "abnormal mouth morphology", + "Abnormal conjugate eye movement (HPO)", + "abnormal midface", + "haemolymphatic fluid", + "Decreased fertility in males (HPO)", + "integument", + "abnormally fused pedal digit and pedal digit", + "Decreased fertility (HPO)", + "hindlimb joint", + "abnormal late embryo", + "cavitated compound organ", "abnormal upper urinary tract", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", - "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", - "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "Morphological abnormality of the gastrointestinal tract", - "abnormal reproductive system morphology", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", - "abnormality of male reproductive system physiology", - "abnormal gamete generation", - "abnormality of camera-type eye physiology", - "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "Abnormal cardiac atrium morphology", - "Intellectual disability", - "Abnormal penis morphology", - "Abnormal tracheobronchial morphology", - "hypertrophic multicellular anatomical structure", + "root", + "malformed anatomical entity", + "septum", + "autopodial skeleton", + "pelvic girdle region", + "individual digit of digitopodial skeleton", + "Abnormal renal physiology (HPO)", + "abnormal bone of pelvic complex morphology", + "abnormal pedal digit", + "longitudinal arch of pes", + "pedal digitopodium region", + "leukocyte", + "clavate anatomical entity", + "Abnormality of ganglion (HPO)", + "abnormal skin of body", + "concave 3-D shape anatomical entity", + "decreased size of the anatomical entity in the pectoral complex", + "leg", + "facial bone", + "abnormal digit", + "sensory system", + "pedal digit bone", + "ventricular system of central nervous system", + "acropodium region", + "anatomical system", + "pedal digitopodium bone", "abnormal kidney", - "abnormal reproductive system", - "abnormal internal genitalia", - "abnormal male reproductive organ morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "decreased developmental process", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Recurrent infections", - "asymmetrically curved cornea", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "decreased length of long bone", - "curved anatomical entity", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", + "acropodial skeleton", + "trunk blood vessel", + "bone of pelvic complex", + "Hypoplasia of the ulna (HPO)", + "blood", + "Clubbing of toes (HPO)", + "Abnormality of peripheral nerves (HPO)", + "primary subdivision of skull", + "pedal digit phalanx endochondral element", + "ganglion", + "abnormal pigmentation in independent continuant", + "abnormal anterior chamber of eyeball morphology", "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "Slanting of the palpebral fissure", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal phenotype by ontology source", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormal developmental process", - "abnormal secondary palate morphology", - "Abnormal cornea morphology", - "Abnormal form of the vertebral bodies", - "entity", - "absent sperm in the independent continuant", - "abnormal anatomical entity, curved", - "abnormal spatial pattern of anatomical entity", - "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", - "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased biological_process in multicellular organism", - "quality", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", - "Hypertrophic cardiomyopathy", - "absent anatomical entity in the multicellular organism", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "abnormal gamete", - "Abnormality of the outer ear", - "Absent testis", - "abnormal face morphology", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", - "abnormal shape of continuant", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal head", - "abnormal cell", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormal spermatogenesis", - "Clubbing of toes", - "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", - "decreased spermatogenesis", - "abnormal kidney morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal visual perception", - "abnormal ocular adnexa morphology", - "phenotype by ontology source", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "abnormal digestive system", - "abnormal craniocervical region morphology", - "abnormal cornea morphology", - "continuant", - "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "absent gamete", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", - "abnormality of nervous system physiology", - "Abnormal external genitalia", - "Functional abnormality of male internal genitalia", - "Aplasia/Hypoplasia affecting the eye", - "abnormal developmental process involved in reproduction", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", - "curved anatomical entity in independent continuant", - "bicornuate anatomical entity", - "anatomical entity hypoplasia in independent continuant", + "autopod endochondral element", + "autopod bone", + "hindlimb skeleton", "shape anatomical entity", - "abnormal vasculature", - "changed developmental process rate", - "abnormal genitourinary system", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "abnormal myocardium morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Abnormal male reproductive system physiology", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "Abnormal eye physiology", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", - "abnormal tracheobronchial tree morphology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", + "Clubbing (HPO)", + "prominent anatomical entity", + "Abnormal lower limb bone morphology (HPO)", + "Abnormality of the midface (HPO)", + "hindlimb long bone", + "abnormal integument", + "Abnormality of the genital system (HPO)", + "Abnormal digit morphology (HPO)", + "Abnormality of the lower limb (HPO)", + "abnormally formed anterior chamber of eyeball", + "Abnormal size of the palpebral fissures (HPO)", + "digit plus metapodial segment", + "tube formation", + "Abnormality of toe (HPO)", + "abnormal intestine morphology", + "Abnormality of the urinary system physiology (HPO)", + "Small intestinal stenosis (HPO)", + "Aplasia/Hypoplasia of facial bones (HPO)", + "Abnormality of limbs (HPO)", + "Duodenal stenosis (HPO)", + "Hydrocephalus (HPO)", + "internal genitalia", + "pes bone", + "abnormal multicellular organism morphology", + "duodenum", + "small intestine", + "Absent testis (HPO)", + "constricted duodenum", + "delayed growth", + "abnormal spinal cord", + "Morphological abnormality of the gastrointestinal tract (HPO)", + "pelvic appendage", + "increased anatomical entity length in independent continuant", + "abnormal location of eyeball of camera-type eye", + "immaterial entity", + "Renal hypoplasia/aplasia (HPO)", + "nerve", + "abnormal duodenum morphology", + "non-material anatomical boundary", + "abnormal visual perception", "increased length of the anatomical line between pupils", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal anus", - "Atypical behavior", - "increased size of the brain ventricle", - "Anal atresia", - "abnormal small intestine", - "Abnormality of the anus", - "Weight loss", - "Abnormality of the forehead", + "chamber of eyeball", + "male germ cell", + "anatomical line", + "future nervous system", + "aplasia or hypoplasia of uvea", + "hypothalamus-pituitary axis", + "Abnormality of the female genitalia (HPO)", + "abnormal hypothalamus-pituitary axis", + "synovial joint of pelvic girdle", + "pes", + "abnormal sensory perception of sound", + "Abnormality of the hypothalamus-pituitary axis (HPO)", + "nervous system process", + "exocrine system", + "circulatory organ", + "abnormality of male reproductive system physiology", + "glandular system", + "kinesthetic behavior", + "flattened anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "Finger clinodactyly (HPO)", + "blood vessel", + "hepatobiliary system", + "anatomical space", + "intestine", + "Abnormality of the endocrine system (HPO)", + "manual digit bone", + "limb long bone", "abnormal prepuce of penis morphology", + "abnormal endocrine system", + "sloped anatomical entity", + "Abnormal anterior chamber morphology (HPO)", + "liver", + "amniotic fluid", + "increased size of the anatomical entity", + "Irregular hyperpigmentation (HPO)", + "Slanting of the palpebral fissure (HPO)", + "Abnormality of the orbital region (HPO)", + "abnormal size of brain ventricle", + "synovial joint", + "Myelodysplasia (HPO)", + "ileum", + "Aplasia/Hypoplasia of the testes (HPO)", + "abnormal peripheral nervous system", + "Abnormal eyelid morphology (HPO)", + "Neoplasm (HPO)", + "Hematological neoplasm (HPO)", + "hemolymphoid system", + "regional part of brain", + "Abnormality of blood and blood-forming tissues (HPO)", + "abnormal cardial valve morphology", + "nucleate cell", + "skeleton of pes", + "stylopod", + "organ part", + "immune system", + "abnormal umbilicus morphology", + "Abnormal leukocyte morphology (HPO)", + "Abnormality of the eye (HPO)", + "hematopoietic cell", + "increased pigmentation", + "abnormal hematopoietic system", + "Abnormality of the forehead (HPO)", + "trunk bone", + "Leukopenia (HPO)", + "Decreased body weight (HPO)", + "abnormal immune system", + "erythroid lineage cell", + "Hernia (HPO)", + "pulmonary valve", + "flat bone", + "hematopoietic system", + "Abnormal neural tube morphology (HPO)", + "Abnormal duodenum morphology (HPO)", + "Macule (HPO)", + "abnormal forebrain morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormal soft palate morphology (HPO)", + "erythrocyte", + "telencephalon", + "Abnormality of prenatal development or birth (HPO)", + "embryonic tissue", + "Opisthokonta", "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "Abnormal pulmonary valve physiology", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "abnormal growth", - "abnormal cornea, curved", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormal lens morphology", - "opaque anatomical entity", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "drooping eyelid", + "segment of autopod", + "Eumetazoa", + "abnormal size of skull", + "Clinodactyly (HPO)", + "abnormal pes morphology", + "organism", + "trunk", + "Abnormality of the ulna (HPO)", + "pedal digit", + "abnormal size of anatomical entity", + "Microcephaly (HPO)", + "frontal lobe", + "ventricle of nervous system", + "pedal digit plus metapodial segment", + "abnormal biological_process in independent continuant", + "metabolic process", + "Aplasia/Hypoplasia of the cerebrum (HPO)", + "abnormal pigmentation", + "lower respiratory tract", + "Abnormality of forebrain morphology (HPO)", + "shape cornea", + "transudate", + "Aplasia/Hypoplasia involving the central nervous system (HPO)", + "forebrain", + "Eukaryota", + "manual digit 1 digitopodial skeleton", + "abnormal vertebral column", + "vertebral column", + "Scoliosis (HPO)", + "Abnormality of the curvature of the vertebral column (HPO)", + "Abnormal ventriculoarterial connection (HPO)", + "Abnormal shape of the palpebral fissure (HPO)", + "tissue development", + "shape palpebral fissure", + "layer of muscle tissue", + "head bone", + "urethral meatus", + "Nystagmus (HPO)", + "Deviation of the hand or of fingers of the hand (HPO)", + "Abnormality of the urinary system (HPO)", + "renal system", + "lower urinary tract", + "abnormal respiratory system morphology", + "glans penis", + "eyelid", + "autopodial extension", + "male urethra", + "camera-type eye", + "urethral opening", + "Displacement of the urethral meatus (HPO)", + "Renal insufficiency (HPO)", + "abnormal testis morphology", + "male urethral meatus", + "abnormal sensory perception", + "abnormal cardial valve morphology in the heart", + "abnormal urethra", + "Abnormal immune system morphology (HPO)", + "Abnormality of the lower urinary tract (HPO)", + "abnormal renal system", + "phalanx of pes", + "eye movement", + "Abnormality of the nose (HPO)", + "abnormal asymmetry of face", + "Abnormal palate morphology (HPO)", + "internal naris atresia", + "non-connected functional system", + "internal naris", + "abnormal physiologic nystagmus", + "skeleton of pelvic complex", + "respiratory airway", + "kidney", + "chemosensory system", + "abnormal lower urinary tract", "posterior nasal aperture atresia", - "Choanal atresia", - "Abnormal axial skeleton morphology", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Short long bone", - "abnormal palpebral fissure", - "anus atresia", + "Abnormal foot morphology (HPO)", + "regional part of nervous system", + "orifice of skull", + "olfactory organ", + "naris", "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", + "abnormal ureter", + "abnormal palpebral fissure", + "gland", + "abnormal cardiac atrium morphology in the heart", + "abnormal postcranial axial skeleton morphology", + "axial skeleton plus cranial skeleton", + "axial skeletal system", "abnormal posterior nasal aperture morphology", - "Abnormality of the orbital region", - "abnormal nerve", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "Abnormality of the choanae", - "abnormal internal naris", - "decreased pigmentation in independent continuant", - "Hypospadias", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "abnormal renal system", - "abnormal urethra", - "Displacement of the urethral meatus", - "Morphological central nervous system abnormality", + "Abnormal bone ossification (HPO)", + "Abnormality of the urethra (HPO)", + "nose", + "increased qualitatively response to stimulus", + "endocrine system", + "skull", + "Abnormality of the choanae (HPO)", + "Abnormal platelet count (HPO)", + "drooping eyelid", + "drooping anatomical entity", + "Aplasia/hypoplasia affecting bones of the axial skeleton (HPO)", + "independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Meckel diverticulum (HPO)", + "pelvic region of trunk", + "Abnormality of the mouth (HPO)", + "Ptosis (HPO)", + "abnormal secondary palate morphology", + "abnormal lens of camera-type eye", + "hindlimb", + "Decreased multicellular organism mass", + "decreased anatomical entity mass", + "growth", + "abnormal digestive system", + "Abnormal male urethral meatus morphology (HPO)", + "Abnormality of digestive system morphology (HPO)", + "Weight loss (HPO)", + "Pyridoxine-responsive sideroblastic anemia (HPO)", + "abnormally fused anatomical entity and digit", + "posterior nasal aperture", + "abnormal external genitalia", + "Growth abnormality (HPO)", + "eukaryotic cell", + "abnormality of multicellular organism mass", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anus", + "Astigmatism (HPO)", + "abdomen", + "anus atresia", + "abnormality of kidney physiology", + "enteric nervous system", + "anatomical entity atresia", + "abnormal anus", + "Abnormality of the anus (HPO)", + "Anorectal anomaly (HPO)", + "abnormal interventricular septum morphology", + "abnormal anatomical entity morphology in the heart", + "prepuce", + "Anal atresia (HPO)", "abnormal anus morphology", - "Abnormality of the urinary system", - "Abnormality of the lower urinary tract", - "Abnormal shape of the palpebral fissure", - "abnormal shape of palpebral fissure", - "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormality of the vertebral column", - "Macule", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", - "Scoliosis", - "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "Abnormal forebrain morphology", - "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Leukopenia", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "Abnormal uterus morphology", + "Abnormality iris morphology (HPO)", + "Abnormal systemic arterial morphology (HPO)", + "abnormal shape of continuant", + "abnormal systemic arterial system morphology", + "abnormal common carotid artery plus branches morphology", + "decreased size of the eyeball of camera-type eye", + "Abnormal skull morphology (HPO)", + "Abnormal carotid artery morphology (HPO)", + "common carotid artery plus branches", + "abnormal bony vertebral centrum morphology", + "skeletal element", + "increased reflex", + "forelimb", + "zeugopod", + "limb endochondral element", + "abnormal nerve", + "musculoskeletal system", + "abnormal limb", + "abnormal arm", + "cranial bone", + "Abnormality of the amniotic fluid (HPO)", + "Umbilical hernia (HPO)", + "abnormal cardiac ventricle morphology", + "glans", + "paired limb/fin skeleton", + "abnormal long bone morphology", + "Hypertelorism (HPO)", + "Abnormal forearm bone morphology (HPO)", + "heart vasculature", + "arm", + "abnormally fused manual digit and anatomical entity", + "endochondral bone", + "skeleton of lower jaw", + "bone of appendage girdle complex", + "digit 1", + "upper jaw region", + "Abnormal oral morphology (HPO)", + "forelimb zeugopod skeleton", + "Recurrent infections (HPO)", + "organism subdivision", + "vestibulo-auditory system", + "integumental system", + "abnormal forelimb zeugopod bone morphology", + "response to stimulus", + "brain gray matter", + "forelimb endochondral element", + "secondary palate", "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "abnormally decreased number of cell in the independent continuant", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal immune system", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormally decreased number of hematopoietic cell", - "abnormal hematopoietic system", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Myelodysplasia", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Frontal bossing", - "abnormal size of brain ventricle", - "delayed biological_process", - "sloped forehead", - "Short forearm", - "abnormal biological_process", - "Growth delay", - "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", - "abnormal liver", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", + "male reproductive system", + "visual system", + "thoracic segment organ", + "limb bone", + "Abnormality of the immune system (HPO)", + "Almond-shaped palpebral fissure (HPO)", + "Cognitive impairment (HPO)", + "postcranial axial skeleton", "hypertrophic cardiac ventricle", - "increased anatomical entity length in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", - "Hypertelorism", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Oligohydramnios", - "abnormal soft palate morphology", - "Abnormal duodenum morphology", + "abnormal internal naris", + "abnormal incomplete closing of the interatrial septum", + "Abnormality of the skeletal system (HPO)", + "forelimb zeugopod", + "multi-limb segment region", + "High palate (HPO)", + "bodily fluid", + "abnormal anatomical entity morphology in the pectoral complex", + "Morphological central nervous system abnormality (HPO)", + "upper limb segment", + "immune system process", + "tunica fibrosa of eyeball", + "abnormal developmental process", + "bone of pectoral complex", + "abnormal ulna morphology", + "Oligohydramnios (HPO)", + "Abnormal skeletal morphology (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "forelimb skeleton", + "Abnormal reflex (HPO)", + "Deviation of finger (HPO)", + "appendicular skeleton", + "skeleton of digitopodium", + "skeleton of pectoral complex", + "motile cell", + "Abnormality of limb bone (HPO)", + "pedal digit digitopodial skeleton", + "abnormal anatomical entity", + "paired limb/fin", + "Abnormality of limb bone morphology (HPO)", + "abnormal great vessel of heart morphology", + "abnormal appendicular skeleton morphology", + "increased biological_process", + "arm bone", "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "Duodenal stenosis", - "abnormal intestine morphology", - "Abnormality of the lower limb", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal digit", + "embryonic epithelial tube formation", + "abnormality of camera-type eye physiology", + "cranial nerve", + "abnormal incomplete closing of the anatomical entity", + "pectoral appendage", + "nervous system cell part layer", + "skeleton", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of reproductive system physiology (HPO)", + "abnormal opening of the anatomical entity", + "abnormal limb bone morphology", + "vasculature", + "Abnormal nervous system morphology (HPO)", + "abnormal skeletal system", + "homeostasis of number of cells", + "embryo", + "appendage", + "obsolete cell", + "male reproductive organ", + "Abnormal nervous system physiology (HPO)", + "Abnormality of cardiovascular system morphology (HPO)", + "Cleft palate (HPO)", + "Abnormal cardiac septum morphology (HPO)", + "multi organ part structure", + "Abnormal venous morphology (HPO)", + "Abnormality of the cardiovascular system (HPO)", + "iris", + "Abnormality of the vasculature (HPO)", + "Abnormality of the vertebral column (HPO)", + "umbilicus", + "vascular system", + "cranium", + "abnormal bone of pectoral complex morphology", + "abnormal phalanx of manus morphology", + "arterial system", + "abnormal head bone morphology", + "abnormal leg", + "abnormal nose", + "long bone", + "Abnormal cerebral cortex morphology (HPO)", + "abnormal internal male genitalia", + "vein", + "abnormality of anatomical entity physiology", + "artery", + "increased size of the anatomical entity in independent continuant", + "Recurrent urinary tract infections (HPO)", + "protein-containing material entity", + "dermal skeletal element", + "Abnormality of the ear (HPO)", + "nervous system development", + "biological_process", + "Abnormal connection of the cardiac segments (HPO)", + "sexual reproduction", + "abnormal anatomical entity, curved", + "subdivision of skeleton", + "anatomical cluster", + "viscus", + "arterial blood vessel", + "esophagus", + "digit 5", + "venous blood vessel", + "Hernia of the abdominal wall (HPO)", + "epithelial tube", + "abnormal digestive system morphology", + "quality", + "manual digit digitopodial skeleton", + "asymmetrically curved anatomical entity", + "forelimb zeugopod bone", + "penis", + "Abnormal penis morphology (HPO)", + "abnormal head morphology", + "Hypermelanotic macule (HPO)", + "constricted anatomical entity", + "limb", + "Abnormality of brain morphology (HPO)", + "intromittent organ", + "system process", + "Abnormal blood vessel morphology (HPO)", + "organ component layer", + "Intellectual disability (HPO)", + "eye", + "Abnormal eye physiology (HPO)", + "endocrine gland", + "Neurodevelopmental abnormality (HPO)", + "abnormal iris morphology", + "tissue", + "Abnormality of mental function", + "paired limb/fin segment", + "urethra", + "central nervous system", + "abnormal pelvic girdle bone/zone morphology", + "skeleton of limb", + "shape forehead", + "abnormal soft palate morphology", + "morphogenesis of embryonic epithelium", + "palatine uvula", + "nervous system", + "abnormal vestibulo-ocular reflex", + "abnormal small intestine", + "Decreased anatomical entity mass", + "brain ventricle/choroid plexus", + "Abnormal appendicular skeleton morphology (HPO)", + "abnormal trachea morphology", + "upper digestive tract", + "Abnormality of the cerebrospinal fluid (HPO)", + "Abnormal ventricular septum morphology (HPO)", + "system", + "Abnormality of skull size (HPO)", + "cerebrospinal fluid", + "epithelium", + "process", + "Phenotypic abnormality (HPO)", + "organ system subdivision", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormality of anatomical entity mass", + "abnormal innominate bone morphology", + "bone element", + "Sloping forehead (HPO)", + "abnormal female reproductive system", + "abnormal nervous system morphology", + "mandible", + "zeugopodial skeleton", + "abnormal anatomical entity mass density", + "decreased developmental process", + "male gamete generation", + "upper urinary tract", + "delayed biological_process", + "skeletal system", + "hindlimb endochondral element", + "Decreased head circumference (HPO)", + "abnormally increased number of brain ventricle in the independent continuant", + "lateral structure", + "manual digit plus metapodial segment", + "abnormal nervous system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal anatomical entity topology in independent continuant", + "limb segment", + "Dolichocephaly (HPO)", + "appendage girdle complex", + "Puberty and gonadal disorders (HPO)", + "Abnormal morphology of ulna (HPO)", + "Hydroureter (HPO)", + "innominate bone", + "abnormally increased number of anatomical entity", + "Abnormal preputium morphology (HPO)", + "decreased multicellular organism mass", + "physiologic nystagmus", + "Abnormality of skin morphology (HPO)", + "Abnormal cerebral ventricle morphology (HPO)", + "Epicanthus (HPO)", + "cardiovascular system", + "abdominal segment bone", "3-D shape anatomical entity", - "abnormal pedal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Almond-shaped palpebral fissure", + "Abnormality of the testis size (HPO)", + "Abnormality of refraction (HPO)", + "brain ventricle", + "disconnected anatomical group", + "ocular surface region", + "gamete", + "changed biological_process rate in independent continuant", + "Abnormality of the small intestine (HPO)", + "eyeball of camera-type eye", + "Abnormality of the curvature of the cornea (HPO)", + "Abnormal cornea morphology (HPO)", + "abnormal shape of cornea", + "Aplasia/Hypoplasia of the mandible (HPO)", + "organ subunit", + "skeleton of manus", + "abnormal shape of external ear", + "anterior segment of eyeball", + "bone element hypoplasia in face", + "blood vasculature", + "cornea", + "hindlimb bone", + "oviduct", + "Abnormal eye morphology (HPO)", + "reproductive organ", + "organism substance", + "digitopodium bone", + "forelimb zeugopod bone hypoplasia", + "Growth delay (HPO)", + "curvature anatomical entity in independent continuant", + "abnormal camera-type eye morphology", + "abnormal cornea, curved", + "anatomical structure", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal face", + "Abnormality of the lens (HPO)", + "Abnormal anterior eye segment morphology (HPO)", "shape digit", - "Clubbing", - "abnormal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "Abnormal midface morphology", - "abnormal male reproductive system", - "abnormal mouth morphology", - "abnormal oral cavity morphology", - "Hernia of the abdominal wall", - "Abnormal palate morphology", - "abnormal midface morphology", - "Abnormal soft palate morphology", - "clavate anatomical entity", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "abnormal integument", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "Neurodevelopmental delay", - "abnormal skin of body", - "abnormal cardiac valve morphology in the heart", + "aplasia or hypoplasia of iris", + "Functional abnormality of male internal genitalia (HPO)", + "abnormal limb bone", + "excretory system", + "abnormal skeletal joint morphology", + "Arteriovenous malformation (HPO)", + "aplasia or hypoplasia of telencephalon", + "abnormal brain morphology", + "abnormal cornea morphology", + "abnormal bone element mass density", + "manual digitopodium region", + "brain", + "digitopodium region", + "increased biological_process in skin of body", + "abnormal cornea, asymmetrically curved", + "Abnormal intestine morphology (HPO)", + "heart left ventricle", + "aplasia or hypoplasia of manual digit", + "tube", + "Abnormality of lower limb joint (HPO)", + "ulna endochondral element", + "Abnormality of the liver (HPO)", + "response to external stimulus", + "Abnormal respiratory system morphology (HPO)", + "abnormal brain ventricle morphology", + "autopod region", + "compound organ", + "clavate digit", + "Deviation of the 5th finger (HPO)", + "anatomical entity", + "pectoral complex", + "ulna", + "trunk region element", + "digestive system element", + "external soft tissue zone", + "gray matter", + "abnormal ocular adnexa morphology", + "specifically dependent continuant", + "Abnormality of the nervous system (HPO)", + "Abnormal pulmonary valve morphology (HPO)", + "Abnormality of the calvaria (HPO)", + "respiratory tract", + "proximo-distal subdivision of respiratory tract", + "Sideroblastic anemia (HPO)", + "body proper", + "abnormal forelimb zeugopod", + "Abnormality of the digestive system (HPO)", + "hemopoiesis", + "femur", + "Metazoa", + "Neurodevelopmental delay (HPO)", + "multicellular organism reproduction", + "abnormal tracheobronchial tree morphology", + "subdivision of digestive tract", + "subdivision of tube", + "abdominal segment element", + "Abnormal tracheal morphology (HPO)", + "abnormal neural tube closure", + "Upper limb undergrowth (HPO)", + "digestive system", + "abnormal growth", + "Abnormal internal genitalia (HPO)", + "respiratory system", + "immaterial anatomical entity", + "Abnormal reproductive system morphology (HPO)", + "Abnormality of head or neck (HPO)", + "endochondral element", + "respiratory tube", + "abnormal blood vessel morphology", + "Ocular anterior segment dysgenesis (HPO)", + "curvature anatomical entity", + "Tracheoesophageal fistula (HPO)", + "skin of body", + "Aplasia/hypoplasia involving bones of the extremities (HPO)", + "Abnormality of the phalanges of the toes (HPO)", + "multi-tissue structure", + "abnormal central nervous system morphology", + "Cryptorchidism (HPO)", + "abnormal closing of the anatomical entity", + "material entity", + "abnormal head", + "asymmetrically curved cornea", + "increased qualitatively biological_process", + "Abnormal localization of kidney (HPO)", + "anatomical line between pupils", + "system development", + "ocular adnexa", + "zone of skin", + "abnormal palatine uvula morphology", + "late embryo", + "abnormal external male genitalia", + "digestive tract", + "abnormal phalanx of pes", + "endoderm-derived structure", + "tracheobronchial tree", + "Hyperpigmentation of the skin (HPO)", + "abnormal cardiovascular system", + "Abnormality of the respiratory system (HPO)", + "Syndactyly (HPO)", + "pectoral appendage skeleton", + "male gamete", + "ectoderm-derived structure", + "Abnormal male reproductive system physiology (HPO)", + "Abnormality of thrombocytes (HPO)", + "Abnormal umbilicus morphology (HPO)", + "anatomical wall", + "Abnormal pinna morphology (HPO)", + "skeleton of pedal acropodium", + "abnormal shape of palpebral fissure", + "abnormal external ear morphology", + "abnormal reproductive system morphology", + "Conotruncal defect (HPO)", + "Cataract (HPO)", + "abnormal external ear", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal zone of skin morphology", + "digit 1 digitopodial skeleton", + "postcranial axial skeletal system", + "abnormal ear morphology", + "musculature of body", + "ventricular system of brain", + "reproductive system", + "Abnormal ear morphology (HPO)", + "joint of girdle", + "abnormal uvea morphology", + "Abnormality of globe location (HPO)", + "Abnormality of the gastrointestinal tract (HPO)", + "abnormal male reproductive organ morphology", + "male organism", + "skeleton of pedal digitopodium", + "abnormal reproductive process", + "transparent eye structure", + "lower limb segment", + "abnormal sensory perception of light stimulus", + "exocrine gland", + "abnormal esophagus morphology", + "lens of camera-type eye", + "behavior", + "anatomical conduit", + "Non-obstructive azoospermia (HPO)", + "abnormal incomplete closing of the ductus arteriosus", + "Abnormal spermatogenesis (HPO)", + "Abnormal oral cavity morphology (HPO)", + "abnormal skeletal system morphology", + "Joint dislocation (HPO)", + "internal male genitalia", + "occurrent", "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", + "Hypopigmented skin patches (HPO)", + "shape anatomical entity in independent continuant", + "cardiac chamber", + "changed developmental process rate", + "Abnormality of long bone morphology (HPO)", "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "paralysed cranial nerve", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormal peripheral nervous system morphology", - "Cranial nerve paralysis", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Aplasia/Hypoplasia of fingers", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", + "heart", + "Abnormality of the genitourinary system (HPO)", + "continuant", + "haploid cell", + "Short stature (HPO)", + "Upslanted palpebral fissure (HPO)", + "abnormal developmental process involved in reproduction", + "decreased biological_process in multicellular organism", + "hypertrophic multicellular anatomical structure", + "spermatogenesis", + "gray matter of telencephalon", + "parasympathetic nervous system", + "vertebra", + "prepuce of penis", + "abnormal liver", + "abnormally fused anatomical entity and pedal digit", + "Abnormality of ganglion of peripheral nervous system (HPO)", + "abnormality of nervous system physiology", + "abnormal enteric ganglion morphology", + "Abnormality of male external genitalia (HPO)", + "abnormality of anatomical entity height", + "abnormal genitourinary system", + "appendicular skeletal system", + "cranial nerve related reflex", + "abnormal anatomical entity morphology in the independent continuant", + "increased height of anatomical entity in independent continuant", + "germ cell", + "abnormality of cardiovascular system physiology", + "multicellular organism development", + "abnormal spermatogenesis", + "shape eyelid", + "craniocervical region", + "abnormal connective tissue", + "aortic valve", + "abnormal eyeball of camera-type eye", + "testis", + "Triphalangeal thumb (HPO)", + "forelimb long bone", + "Limb undergrowth (HPO)", + "cell", + "phenotype by ontology source", + "germ line cell", + "Abnormal heart morphology (HPO)", + "abnormal gamete generation", + "gamete generation", + "abnormal embryonic tissue morphology", + "subdivision of organism along appendicular axis", + "abnormal forelimb zeugopod bone", + "left cardiac chamber", + "abnormal vascular system morphology", + "increased height of the anatomical entity", + "external male genitalia", + "developmental process", + "multicellular organismal process", "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the eye", - "Finger clinodactyly", - "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "Abnormality of the skeletal system", - "Deviation of finger", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the ulna" + "external genitalia", + "reproductive structure", + "abnormal semi-lunar valve morphology", + "anatomical structure formation involved in morphogenesis", + "abnormal reproductive system", + "animal cell", + "abnormality of reproductive system physiology", + "gonad", + "phalanx endochondral element", + "Abnormal ear physiology (HPO)", + "limb skeleton subdivision", + "ecto-epithelium", + "Abnormal upper limb bone morphology (HPO)", + "face", + "Pes planus (HPO)", + "abnormal craniocervical region", + "Hip dislocation (HPO)", + "decreased qualitatively biological_process", + "decreased biological_process", + "Choanal atresia (HPO)", + "olfactory system", + "abnormal cerebrospinal fluid", + "simple eye", + "abnormal peripheral nervous system morphology", + "ductus arteriosus", + "abnormal eyelid morphology", + "neuron projection bundle", + "abnormal heart right ventricle morphology", + "Abnormality of forearm bone (HPO)", + "semen", + "Abnormal facial shape (HPO)", + "curved anatomical entity in independent continuant", + "neural crest-derived structure", + "Abnormality of the abdominal organs (HPO)", + "anterior chamber of eyeball", + "Abnormal right ventricle morphology (HPO)", + "Abnormal leukocyte count (HPO)", + "increased size of the brain ventricle", + "Abnormal testis morphology (HPO)", + "multicellular organism", + "Abnormal uvula morphology (HPO)", + "decreased qualitatively pigmentation", + "abnormal ocular adnexa", + "abnormal vein morphology", + "flat anatomical entity", + "Abnormality of the kidney (HPO)", + "Abnormal external genitalia (HPO)", + "Abnormal cerebral morphology (HPO)", + "aplasia or hypoplasia of skeleton", + "Aplasia/Hypoplasia affecting the uvea (HPO)", + "developmental process involved in reproduction", + "heart right ventricle", + "cellular organisms", + "manual digit", + "main body axis", + "Abnormality of the integument (HPO)", + "segment of pes", + "multicellular organismal reproductive process", + "abdomen element", + "Abnormal vascular morphology (HPO)", + "subdivision of trunk", + "external ear", + "reproduction", + "abnormal cardiovascular system morphology", + "erythrocyte homeostasis", + "abnormal arch of centrum of vertebra", + "venous system", + "Abnormal renal morphology (HPO)", + "abnormal hip joint morphology", + "Hypospadias (HPO)", + "Abnormal axial skeleton morphology (HPO)", + "changed biological_process rate", + "material anatomical entity", + "Abnormality of connective tissue (HPO)", + "abnormal number of anatomical enitites of type anatomical entity", + "entity", + "Abnormal cardiovascular system physiology (HPO)", + "Aplasia/Hypoplasia of the iris (HPO)", + "cardiac valve", + "decreased spermatogenesis", + "digit 1 plus metapodial segment", + "abnormal ear", + "Hypogonadism (HPO)", + "sensory perception of light stimulus", + "somatic cell", + "Abnormal erythrocyte morphology (HPO)", + "Abnormal shape of the frontal region (HPO)", + "Abnormal frontal bone morphology (HPO)", + "Abnormality of male internal genitalia (HPO)", + "abnormal internal genitalia", + "anatomical collection", + "cranial skeletal system", + "Azoospermia (HPO)", + "curved anatomical entity", + "zone of organ", + "orifice", + "abnormal orbital region", + "abnormal male reproductive system", + "aplasia or hypoplasia of anatomical entity", + "primary circulatory organ", + "Abnormality of corneal shape (HPO)", + "decreased qualitatively reproductive process", + "native cell", + "uvea", + "increased size of the head", + "Abnormality of the palpebral fissures (HPO)", + "bone of free limb or fin", + "bone of jaw", + "organ", + "Anemia of inadequate production (HPO)", + "manual digit phalanx endochondral element", + "jaw region", + "Abnormality of thumb phalanx (HPO)", + "pelvic appendage skeleton", + "entire sense organ system", + "multicellular organismal-level homeostasis", + "manus bone", + "Abnormality of the male genitalia (HPO)", + "posterior region of body", + "anatomical cavity", + "Abnormal ocular adnexa morphology (HPO)", + "systemic artery", + "abnormal size of head", + "manual digit 5 plus metapodial segment", + "structure with developmental contribution from neural crest", + "skin of face", + "decreased qualitatively developmental process", + "pelvic complex", + "sperm", + "Abnormality of chromosome stability (HPO)", + "subdivision of skeletal system", + "sense organ", + "circulatory system", + "Abnormality of the ocular adnexa (HPO)", + "flat longitudinal arch of pes", + "Abnormality of the face (HPO)", + "genitourinary system", + "multicellular anatomical structure", + "head", + "Ventricular septal defect (HPO)", + "subdivision of head", + "digit", + "abdominal segment of trunk", + "Abnormality of the head (HPO)", + "abnormal alimentary part of gastrointestinal system", + "3-D shape anatomical entity in independent continuant", + "Abnormality of body weight (HPO)", + "Abnormality of the upper limb (HPO)", + "mesoderm-derived structure", + "abnormally fused pedal digit and anatomical entity", + "autonomic ganglion", + "palpebral fissure", + "ear", + "forelimb bone", + "Hearing abnormality (HPO)", + "cognition", + "abnormal anatomical entity morphology in the skeleton of manus", + "coronary vessel", + "abnormal anatomical entity, asymmetrically curved", + "phalanx", + "abnormally fused anatomical entity and manual digit", + "digestive system gland", + "Abnormality of the synovia (HPO)", + "Neoplasm by anatomical site (HPO)", + "abnormal penis", + "Cardiomyopathy (HPO)", + "thoracic cavity element", + "abnormal hard palate morphology", + "abnormal phenotype by ontology source", + "Abnormal cellular phenotype (HPO)", + "alimentary part of gastrointestinal system", + "abnormal amniotic fluid", + "phenotype", + "subdivision of organism along main body axis", + "radius endochondral element", + "abnormal respiratory tube morphology", + "reproductive process", + "cell development", + "All (HPO)", + "prominent forehead", + "Abnormality of the outer ear (HPO)", + "anterior region of body", + "vessel", + "Ventriculomegaly (HPO)", + "Phenotypic abnormality", + "abnormal ulna", + "orbital region", + "Abnormality of the upper urinary tract (HPO)" ], "has_phenotype_count": 106, "highlight": null, "score": null }, { - "id": "Reactome:R-CEL-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:6239", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-MMU-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10090", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-RNO-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10116", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-XTR-6783310", + "id": "Reactome:R-CFA-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": null, @@ -2252,7 +3263,7 @@ "description": null, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:8364", + "in_taxon": "NCBITaxon:9615", "in_taxon_label": null, "symbol": null, "synonym": [], @@ -2267,31 +3278,18 @@ "score": null }, { - "id": "MONDO:0001083", + "id": "MONDO:0060779", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome", + "name": "acquired Fanconi 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.", + "description": "Fanconi Syndrome caused by exposure to noxious agents.", "xref": [], "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" - ], + "synonym": ["acquired Fanconi syndrome"], "uri": null, "namespace": "MONDO", "has_phenotype": [], @@ -2303,53 +3301,7 @@ "score": null }, { - "id": "Reactome:R-DRE-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:7955", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-DME-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:7227", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-HSA-6783310", + "id": "Reactome:R-XTR-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": null, @@ -2357,7 +3309,7 @@ "description": null, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9606", + "in_taxon": "NCBITaxon:8364", "in_taxon_label": null, "symbol": null, "synonym": [], @@ -2395,7 +3347,7 @@ "score": null }, { - "id": "Reactome:R-DDI-6783310", + "id": "Reactome:R-DRE-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": null, @@ -2403,7 +3355,7 @@ "description": null, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:44689", + "in_taxon": "NCBITaxon:7955", "in_taxon_label": null, "symbol": null, "synonym": [], @@ -2418,7 +3370,7 @@ "score": null }, { - "id": "Reactome:R-GGA-6783310", + "id": "Reactome:R-DME-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": null, @@ -2426,7 +3378,7 @@ "description": null, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9031", + "in_taxon": "NCBITaxon:7227", "in_taxon_label": null, "symbol": null, "synonym": [], @@ -2441,7 +3393,7 @@ "score": null }, { - "id": "Reactome:R-SSC-6783310", + "id": "Reactome:R-HSA-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": null, @@ -2449,7 +3401,7 @@ "description": null, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9823", + "in_taxon": "NCBITaxon:9606", "in_taxon_label": null, "symbol": null, "synonym": [], @@ -2486,243 +3438,489 @@ "HP:0007606" ], "has_phenotype_label": [ - "Osteomyelitis", - "Recurrent lower respiratory tract infections", - "Multiple bilateral pneumothoraces", - "Pancytopenia", - "Multiple cutaneous malignancies" + "Osteomyelitis (HPO)", + "Recurrent lower respiratory tract infections (HPO)", + "Multiple bilateral pneumothoraces (HPO)", + "Pancytopenia (HPO)", + "Multiple cutaneous malignancies (HPO)" ], "has_phenotype_closure": [ - "HP:0008069", - "UPHENO:0002635", - "UPHENO:0063722", - "UPHENO:0086005", - "UPHENO:0011498", - "UPHENO:0087123", - "UPHENO:0088166", - "UPHENO:0085195", - "UPHENO:0004459", - "HP:0032251", - "UPHENO:0086049", - "HP:0010987", - "UPHENO:0087339", - "UPHENO:0085189", - "HP:0011893", - "UPHENO:0086172", - "HP:0012145", - "UPHENO:0085344", - "UPHENO:0076675", - "HP:0001881", - "HP:0025461", + "UPHENO:0003811", + "HP:0011793", + "HP:0001574", + "UBERON:0004121", + "HP:0002664", + "CL:0002092", + "HP:0001871", "HP:0011875", - "UPHENO:0076703", - "HP:0005561", - "HP:0011873", - "UPHENO:0087355", - "UPHENO:0086173", - "UPHENO:0085371", - "HP:0001876", + "HP:0001872", + "UBERON:0002390", + "HP:0001881", + "CL:0000458", + "HP:0007606", + "CL:0002371", "HP:0025354", - "UPHENO:0085070", - "UPHENO:0085984", - "HP:0020047", - "UPHENO:0006910", - "UPHENO:0085144", - "UPHENO:0081590", + "HP:0011873", + "CL:0000764", + "CL:0000763", + "UBERON:0002193", + "HP:0011842", + "CL:0000548", + "CL:0000457", + "HP:0005561", + "CL:0000151", + "CL:0002242", + "CL:0000219", + "CL:0000329", + "UPHENO:0076703", + "UBERON:0004120", + "CL:0001035", "HP:0005939", + "UBERON:0000077", + "OBI:0100026", + "PR:000050567", + "NCBITaxon:33154", + "UBERON:0001474", + "NCBITaxon:131567", + "UBERON:0005906", + "UPHENO:0004459", + "NCBITaxon:6072", + "UPHENO:0081590", + "UBERON:0000170", + "HP:0025461", + "CL:0000081", + "UBERON:0004119", + "UPHENO:0004536", + "UBERON:0000915", + "HP:0020047", + "UBERON:0001005", + "UBERON:0000025", + "UBERON:0003103", + "UBERON:0005177", + "UPHENO:0081581", + "HP:0002719", + "HP:0032101", + "UBERON:0011676", + "UPHENO:0020584", + "CL:0000988", + "UPHENO:0015280", + "HP:0011947", + "UBERON:0000064", + "BFO:0000020", + "UBERON:0013701", + "UBERON:0000468", + "HP:0002088", + "UBERON:0000171", + "UPHENO:0076692", + "UBERON:0005181", + "GO:0006954", + "HP:0002205", + "UBERON:0015212", + "NCBITaxon:1", + "UBERON:0000042", + "HP:0002086", + "UBERON:0000467", + "UBERON:0010000", + "UBERON:0000065", + "UBERON:0002416", + "UBERON:0000465", + "HP:0002783", + "UBERON:0005178", + "GO:0006950", "HP:0001873", + "CL:0000225", + "UBERON:0002048", + "UBERON:0001062", + "CL:0000255", + "UPHENO:0080693", + "CL:0000003", + "UBERON:0000062", + "UBERON:0001004", + "UPHENO:0054970", + "BFO:0000003", + "HP:0032251", + "UBERON:0009569", + "PATO:0000001", + "UBERON:0004111", + "HP:0011843", + "HP:0008069", + "UBERON:0009778", + "HP:0000924", + "UBERON:0004765", + "HP:0002103", + "UPHENO:0075696", + "BFO:0000002", + "UPHENO:0074685", + "HP:0000118", + "UPHENO:0082723", + "UPHENO:0049588", + "HP:0012145", + "GO:0006952", + "UPHENO:0049586", + "UPHENO:0059829", + "NCBITaxon:33208", + "UBERON:0000072", + "UPHENO:0002635", + "HP:0012647", + "UPHENO:0002536", + "CL:0000738", + "UBERON:0000061", + "CL:0000000", + "UPHENO:0082875", + "UBERON:0015203", + "UPHENO:0049587", + "UBERON:0002075", "HP:0002107", - "HP:0002783", - "UPHENO:0085302", - "UPHENO:0001001", - "HP:0002086", - "HP:0000001", - "UPHENO:0085118", + "BFO:0000004", + "UBERON:0034923", + "UBERON:0002100", + "HP:0002754", + "UPHENO:0001003", "UPHENO:0081440", - "HP:0002715", - "UPHENO:0080377", + "UBERON:0002199", + "HP:0010978", + "BFO:0000040", + "HP:0011893", + "UPHENO:0001005", + "UBERON:0002097", + "CL:0000232", "UPHENO:0083263", + "UPHENO:0049584", + "GO:0008150", + "CL:0000233", + "HP:0012649", + "NCBITaxon:2759", + "UPHENO:0074624", "UPHENO:0074572", - "UPHENO:0085068", - "HP:0011843", - "HP:0002088", - "UPHENO:0001003", - "UPHENO:0001002", - "UPHENO:0049586", + "UBERON:0034925", "UPHENO:0002263", - "UPHENO:0049588", - "UPHENO:0002536", - "HP:0011842", - "UPHENO:0002332", + "UBERON:0001558", + "UPHENO:0002964", + "UPHENO:0001002", + "UBERON:0000481", + "UPHENO:0020748", + "UBERON:0001434", + "HP:0002715", + "UBERON:0011216", "HP:0033127", - "UPHENO:0059829", - "UPHENO:0084987", - "UPHENO:0049587", - "UPHENO:0049584", - "UPHENO:0077426", - "UPHENO:0075696", - "UPHENO:0084928", - "UPHENO:0082875", + "HP:0000001", + "UPHENO:0074687", + "GO:0050896", + "UPHENO:0080377", + "UPHENO:0080662", + "UBERON:0002371", + "UBERON:0000060", + "UBERON:0013522", "BFO:0000001", - "BFO:0000002", + "UPHENO:0080221", "UPHENO:0076684", - "HP:0000924", "HP:0000951", - "UPHENO:0080221", - "UPHENO:0074685", + "UBERON:0000479", + "HP:0001876", "UPHENO:0019970", - "HP:0000118", - "UPHENO:0074687", - "UPHENO:0080693", - "HP:0011793", - "UPHENO:0002948", - "UPHENO:0080662", - "UPHENO:0074624", - "UPHENO:0002964", - "HP:0010978", - "HP:0012252", - "HP:0002754", - "HP:0001574", - "UPHENO:0082723", - "HP:0001871", - "UPHENO:0086045", + "HP:0010987", + "UBERON:0002204", "UPHENO:0082682", - "UPHENO:0086908", - "UPHENO:0001005", - "HP:0012647", - "HP:0002664", - "BFO:0000020", - "HP:0007606", - "HP:0012649", - "UPHENO:0003811", - "HP:0002103", - "HP:0032101", - "UPHENO:0020584", - "UPHENO:0020748", - "HP:0011947", - "UPHENO:0054970", - "PATO:0000001", - "HP:0002719", - "HP:0002205", - "UPHENO:0004536", - "HP:0001872", - "UPHENO:0076692", - "UPHENO:0015280", - "UPHENO:0087433" + "UBERON:0002405", + "UPHENO:0002332", + "UBERON:0000977", + "UBERON:0013702", + "HP:0012252", + "UPHENO:0002948", + "BFO:0000015", + "UBERON:0000475", + "UPHENO:0001001" ], "has_phenotype_closure_label": [ - "Multiple cutaneous malignancies", - "Abnormality of the integument", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Neoplasm of the skin", - "abnormal number of anatomical enitites of type platelet", - "abnormal number of anatomical enitites of type cell", - "Abnormal cellular immune system morphology", - "Abnormal cellular phenotype", - "Abnormal platelet morphology", - "abnormal skeletal system morphology", - "Abnormality of blood and blood-forming tissues", + "Abnormality of the integument (HPO)", + "ectoderm-derived structure", + "integumental system", + "Abnormality of the skin (HPO)", + "Neoplasm of the skin (HPO)", "abnormal skin of body", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormally decreased number of platelet", - "Abnormal leukocyte count", - "Abnormal cell morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormally decreased number of hematopoietic cell", - "abnormal bone marrow morphology", - "Neoplasm", - "abnormally decreased number of anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal platelet count", - "abnormal blood cell", - "Pancytopenia", - "abnormal platelet", - "abnormal bone marrow cell", - "abnormal bone marrow cell morphology", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal immune system morphology", - "Abnormal skeletal morphology", - "Abnormality of thrombocytes", - "All", - "Respiratory tract infection", - "Abnormality of the musculoskeletal system", - "abnormal myeloid cell morphology", - "increased inflammatory response in bone element", - "abnormal phenotype by ontology source", - "Neoplasm by anatomical site", - "Thrombocytopenia", - "quality", - "phenotype", - "Increased inflammatory response", - "abnormal inflammatory response", - "phenotype by ontology source", - "Osteomyelitis", - "Multiple bilateral pneumothoraces", - "abnormal anatomical entity", - "abnormal immune system", - "abnormality of anatomical entity physiology", - "Abnormality of the skin", - "Phenotypic abnormality", - "Recurrent respiratory infections", - "abnormal cell", - "abnormally decreased number of cell", - "Recurrent infections", - "Abnormal inflammatory response", - "abnormal response to stress", - "Abnormal myeloid cell morphology", - "increased biological_process in bone element", - "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", + "abnormal integument", + "native cell", + "hemolymphoid system", + "Pancytopenia (HPO)", + "tissue", + "Thrombocytopenia (HPO)", + "erythroid lineage cell", + "anucleate cell", + "secretory cell", + "eukaryotic cell", + "Multiple cutaneous malignancies (HPO)", + "motile cell", + "oxygen accumulating cell", + "Abnormal immune system morphology (HPO)", + "Abnormal leukocyte count (HPO)", + "nucleate cell", + "bone marrow cell", + "biogenic amine secreting cell", + "Abnormal cellular phenotype (HPO)", + "serotonin secreting cell", + "bone cell", + "somatic cell", + "animal cell", + "erythrocyte", + "Abnormal myeloid cell morphology (HPO)", + "myeloid cell", + "Abnormal platelet morphology (HPO)", + "Abnormality of multiple cell lineages in the bone marrow (HPO)", + "Abnormality of thrombocytes (HPO)", + "mixed endoderm/mesoderm-derived structure", + "Opisthokonta", + "cellular organisms", + "serous sac", + "skeletal element", + "Abnormal pleura morphology (HPO)", + "Eumetazoa", + "multi-tissue structure", + "protein-containing material entity", + "Metazoa", + "mesoderm-derived structure", + "bone marrow", + "Eukaryota", + "serous membrane", + "pleura", + "Multiple bilateral pneumothoraces (HPO)", + "compound organ", + "proximo-distal subdivision of respiratory tract", + "organ", "abnormal hematopoietic system", + "abnormal lung morphology", + "lateral structure", + "abnormal multicellular organism morphology", + "Respiratory tract infection (HPO)", + "hematopoietic system", + "blood cell", + "subdivision of tube", + "abnormal pleura morphology", + "respiratory system", + "leukocyte", + "response to stress", + "organ part", + "Abnormal cellular immune system morphology (HPO)", + "respiratory tract", + "anatomical conduit", + "Abnormal cell morphology (HPO)", + "respiratory airway", + "viscus", + "thoracic segment organ", + "response to stimulus", + "thoracic segment of trunk", + "pair of lungs", + "endoderm-derived structure", + "Neoplasm (HPO)", + "respiration organ", + "Recurrent respiratory infections (HPO)", + "abnormal respiratory system morphology", + "subdivision of trunk", + "main body axis", + "abnormal phenotype by ontology source", + "trunk", + "Abnormality of blood and blood-forming tissues (HPO)", + "lung", + "Recurrent infections (HPO)", + "integument", + "Abnormal respiratory system morphology (HPO)", + "abnormal biological_process", + "immune system", + "Abnormality of immune system physiology (HPO)", + "abnormal skeletal system", + "disconnected anatomical group", + "increased qualitatively biological_process in independent continuant", + "abnormality of immune system physiology", + "skeletal system", + "pleural sac", + "increased qualitatively response to stimulus", + "Abnormality of bone marrow cell morphology (HPO)", + "specifically dependent continuant", + "organ system subdivision", + "multicellular organism", "entity", - "Abnormality of the immune system", - "abnormal hematopoietic system morphology", - "increased inflammatory response in independent continuant", + "Abnormality of musculoskeletal physiology (HPO)", "abnormality of musculoskeletal system physiology", - "Abnormality of the skeletal system", - "increased qualitatively inflammatory response in independent continuant", - "specifically dependent continuant", - "abnormality of immune system physiology", - "Abnormality of bone marrow cell morphology", + "thoracic cavity element", + "tube", + "Recurrent lower respiratory tract infections (HPO)", + "hematopoietic cell", + "abnormal response to stress", + "Abnormal inflammatory response (HPO)", + "lower respiratory tract", + "organism subdivision", + "Abnormal platelet count (HPO)", + "inflammatory response", + "increased biological_process in bone element", + "Phenotypic abnormality", + "abnormal skeletal system morphology", + "anatomical collection", + "abnormal anatomical entity morphology", + "process", + "quality", + "anatomical system", + "Unusual infection (HPO)", + "anatomical structure", + "platelet", + "subdivision of organism along main body axis", "increased inflammatory response", - "abnormal biological_process", - "abnormal integument", - "abnormal cell morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of immune system physiology", - "increased qualitatively response to stimulus", - "increased qualitatively biological_process in independent continuant", - "Abnormal lung morphology", + "Abnormal skeletal morphology (HPO)", + "abnormal inflammatory response", "continuant", - "abnormal respiratory system morphology", - "abnormal hematopoietic cell morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal skeletal system", - "abnormal blood cell morphology", - "abnormally decreased number of myeloid cell", - "increased biological_process", - "abnormal leukocyte morphology", - "abnormal pleura morphology", + "trunk region element", + "defense response", + "occurrent", + "cell", "abnormal biological_process in independent continuant", - "increased qualitatively inflammatory response", - "abnormal response to stimulus", - "Abnormal immune system morphology", - "increased qualitatively biological_process", - "Abnormal musculoskeletal physiology", - "Unusual infection", - "Pneumothorax", - "abnormal lung morphology", - "Abnormal leukocyte morphology", - "Abnormality of the respiratory system", - "abnormal platelet morphology", - "Recurrent lower respiratory tract infections", - "Abnormal respiratory system morphology", + "bone element", + "body proper", "changed biological_process rate", - "abnormal anatomical entity morphology", + "increased qualitatively biological_process", + "All (HPO)", + "non-connected functional system", + "Increased inflammatory response (HPO)", + "increased biological_process in independent continuant", + "organism", + "Abnormality of the respiratory system (HPO)", + "increased qualitatively inflammatory response", + "musculoskeletal system", + "Abnormal leukocyte morphology (HPO)", + "increased qualitatively inflammatory response in independent continuant", + "Phenotypic abnormality (HPO)", "abnormal respiratory system", - "Abnormal pleura morphology" + "increased inflammatory response in independent continuant", + "phenotype by ontology source", + "abnormal response to stimulus", + "Neoplasm by anatomical site (HPO)", + "anatomical entity", + "abnormal immune system", + "root", + "changed biological_process rate in independent continuant", + "abnormality of anatomical entity physiology", + "increased biological_process", + "Pneumothorax (HPO)", + "Osteomyelitis (HPO)", + "material entity", + "material anatomical entity", + "skin of body", + "increased inflammatory response in bone element", + "abnormal anatomical entity", + "Abnormality of the skeletal system (HPO)", + "independent continuant", + "multicellular anatomical structure", + "phenotype", + "Abnormal lung morphology (HPO)", + "Abnormality of the immune system (HPO)", + "Abnormality of the musculoskeletal system (HPO)", + "biological_process", + "anatomical wall", + "abnormal anatomical entity morphology in the independent continuant" + ], + "has_phenotype_count": 5, + "highlight": null, + "score": null + }, + { + "id": "Reactome:R-DDI-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", + "full_name": null, + "deprecated": null, + "description": null, + "xref": [], + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:44689", + "in_taxon_label": null, + "symbol": null, + "synonym": [], + "uri": null, + "namespace": "Reactome", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, + { + "id": "Reactome:R-GGA-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", + "full_name": null, + "deprecated": null, + "description": null, + "xref": [], + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:9031", + "in_taxon_label": null, + "symbol": null, + "synonym": [], + "uri": null, + "namespace": "Reactome", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, + { + "id": "Reactome:R-SSC-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", + "full_name": null, + "deprecated": null, + "description": null, + "xref": [], + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:9823", + "in_taxon_label": null, + "symbol": null, + "synonym": [], + "uri": null, + "namespace": "Reactome", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "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": [], + "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" ], - "has_phenotype_count": 5, + "uri": null, + "namespace": "MONDO", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, "highlight": null, "score": null }, @@ -2754,20 +3952,20 @@ "score": null }, { - "id": "MONDO:0060779", - "category": "biolink:Disease", - "name": "acquired Fanconi syndrome", + "id": "Reactome:R-CEL-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", "full_name": null, "deprecated": null, - "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "description": null, "xref": [], - "provided_by": "phenio_nodes", - "in_taxon": null, + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:6239", "in_taxon_label": null, "symbol": null, - "synonym": ["acquired Fanconi syndrome"], + "synonym": [], "uri": null, - "namespace": "MONDO", + "namespace": "Reactome", "has_phenotype": [], "has_phenotype_label": [], "has_phenotype_closure": [], @@ -2777,7 +3975,7 @@ "score": null }, { - "id": "Reactome:R-BTA-6783310", + "id": "Reactome:R-MMU-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": null, @@ -2785,7 +3983,7 @@ "description": null, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9913", + "in_taxon": "NCBITaxon:10090", "in_taxon_label": null, "symbol": null, "synonym": [], @@ -2800,7 +3998,7 @@ "score": null }, { - "id": "Reactome:R-CFA-6783310", + "id": "Reactome:R-RNO-6783310", "category": "biolink:Pathway", "name": "Fanconi Anemia Pathway", "full_name": null, @@ -2808,7 +4006,7 @@ "description": null, "xref": [], "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9615", + "in_taxon": "NCBITaxon:10116", "in_taxon_label": null, "symbol": null, "synonym": [], @@ -2823,25 +4021,20 @@ "score": null }, { - "id": "GO:0043240", - "category": "biolink:MacromolecularComplex", - "name": "Fanconi anaemia nuclear complex", + "id": "Reactome:R-BTA-6783310", + "category": "biolink:Pathway", + "name": "Fanconi Anemia Pathway", "full_name": null, "deprecated": null, - "description": "A protein complex composed of the Fanconi anaemia (FA) proteins including A, C, E, G and F (FANCA-F). Functions in the activation of the downstream protein FANCD2 by monoubiquitylation, and is essential for protection against chromosome breakage.", + "description": null, "xref": [], - "provided_by": "phenio_nodes", - "in_taxon": null, + "provided_by": "reactome_pathway_nodes", + "in_taxon": "NCBITaxon:9913", "in_taxon_label": null, "symbol": null, - "synonym": [ - "FA complex", - "FA core complex", - "FA nuclear complex", - "Fanconi anaemia complex" - ], + "synonym": [], "uri": null, - "namespace": "GO", + "namespace": "Reactome", "has_phenotype": [], "has_phenotype_label": [], "has_phenotype_closure": [], @@ -2849,6 +4042,867 @@ "has_phenotype_count": 0, "highlight": null, "score": null + }, + { + "id": "MONDO:0013247", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 2", + "full_name": null, + "deprecated": null, + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": [], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome" + ], + "uri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0000117", + "HP:0002749", + "HP:0002148", + "HP:0000114", + "HP:0002757", + "HP:0002748", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", + "HP:0003076", + "HP:0003165", + "HP:0004322", + "HP:0002653", + "HP:0012213", + "HP:0000083", + "HP:0002150" + ], + "has_phenotype_label": [ + "Renal phosphate wasting (HPO)", + "Osteomalacia (HPO)", + "Hypophosphatemia (HPO)", + "Proximal tubulopathy (HPO)", + "Recurrent fractures (HPO)", + "Rickets (HPO)", + "Osteopenia (HPO)", + "Generalized aminoaciduria (HPO)", + "High serum calcitriol (HPO)", + "Proteinuria (HPO)", + "Glycosuria (HPO)", + "Elevated circulating parathyroid hormone level (HPO)", + "Short stature (HPO)", + "Bone pain (HPO)", + "Decreased glomerular filtration rate (HPO)", + "Renal insufficiency (HPO)", + "Hypercalciuria (HPO)" + ], + "has_phenotype_closure": [ + "UPHENO:0068102", + "UPHENO:0051712", + "UBERON:0001474", + "CHEBI:16646", + "HP:0000077", + "CHEBI:33250", + "HP:0001510", + "UPHENO:0082538", + "UPHENO:0081423", + "HP:0004360", + "GO:0040007", + "UPHENO:0015280", + "CHEBI:22984", + "HP:0011842", + "CHEBI:33304", + "HP:0000002", + "UPHENO:0075195", + "UPHENO:0068134", + "HP:0002909", + "UPHENO:0080351", + "UPHENO:0020584", + "CHEBI:24431", + "PR:000013429", + "UPHENO:0082534", + "UBERON:0000468", + "HP:0002157", + "HP:0012337", + "UPHENO:0077826", + "HP:0003076", + "UPHENO:0068068", + "HP:0000001", + "UPHENO:0051741", + "UPHENO:0000541", + "HP:0003165", + "CHEBI:33675", + "CHEBI:33241", + "UPHENO:0068144", + "HP:0012213", + "UPHENO:0051936", + "UBERON:0001969", + "HP:0002152", + "UPHENO:0069254", + "UBERON:0002193", + "CHEBI:36080", + "UPHENO:0046344", + "UPHENO:0051680", + "UPHENO:0068533", + "HP:0001948", + "UPHENO:0051648", + "UBERON:0001977", + "UPHENO:0051612", + "UPHENO:0051635", + "UBERON:0004120", + "UPHENO:0068054", + "CHEBI:18133", + "CHEBI:15693", + "UPHENO:0077817", + "CHEBI:35381", + "UPHENO:0046362", + "UPHENO:0052116", + "CHEBI:26082", + "UPHENO:0068442", + "UPHENO:0051640", + "UPHENO:0068058", + "HP:0011280", + "UPHENO:0080659", + "CHEBI:64709", + "GO:0006629", + "HP:0025142", + "CHEBI:33256", + "CHEBI:37622", + "UPHENO:0002442", + "HP:0000093", + "GO:0008152", + "UPHENO:0051801", + "UPHENO:0075696", + "CHEBI:16670", + "HP:0004364", + "CHEBI:15841", + "UPHENO:0068472", + "CHEBI:33839", + "CHEBI:33709", + "UPHENO:0068565", + "CHEBI:27136", + "UBERON:0015203", + "UPHENO:0051678", + "CHEBI:35341", + "CHEBI:16541", + "CHEBI:35788", + "GO:0071704", + "GO:0044238", + "GO:0044281", + "UPHENO:0049873", + "HP:0100529", + "CHEBI:33822", + "UBERON:0000178", + "CHEBI:17234", + "UPHENO:0076286", + "HP:0031415", + "HP:0100530", + "GO:0006775", + "UPHENO:0081547", + "HP:0032369", + "HP:0032245", + "UPHENO:0068384", + "UPHENO:0080643", + "UPHENO:0082539", + "CHEBI:33917", + "HP:0002795", + "HP:0004322", + "HP:0500165", + "HP:0012212", + "UBERON:0000064", + "HP:0020129", + "UPHENO:0081548", + "CHEBI:35352", + "UPHENO:0051864", + "UPHENO:0082536", + "CHEBI:33521", + "UPHENO:0002448", + "GO:0042359", + "HP:0003119", + "CHEBI:17823", + "GO:0055062", + "CHEBI:27300", + "UPHENO:0084654", + "CHEBI:47042", + "HP:0003077", + "GO:0048878", + "CHEBI:33595", + "UPHENO:0076293", + "UPHENO:0077825", + "UPHENO:0078628", + "UPHENO:0003116", + "UPHENO:0049723", + "UPHENO:0081440", + "HP:0000083", + "CHEBI:18059", + "UPHENO:0076287", + "UPHENO:0068064", + "UPHENO:0046281", + "CHEBI:33575", + "UPHENO:0068491", + "UPHENO:0078554", + "UPHENO:0068089", + "UPHENO:0068049", + "UPHENO:0001002", + "CHEBI:24833", + "CHEBI:32988", + "CHEBI:36962", + "CHEBI:25806", + "CHEBI:78616", + "CHEBI:50860", + "UPHENO:0077829", + "HP:0033354", + "HP:0002086", + "UPHENO:0082542", + "CHEBI:33694", + "HP:0001992", + "HP:0002150", + "UBERON:0000061", + "UPHENO:0076289", + "UPHENO:0068040", + "UPHENO:0079536", + "UBERON:0010000", + "CHEBI:33608", + "HP:0000119", + "CHEBI:36360", + "CHEBI:33582", + "HP:0100508", + "UPHENO:0081424", + "HP:0040156", + "GO:1901360", + "CHEBI:73558", + "UPHENO:0081546", + "CHEBI:37577", + "UPHENO:0068091", + "HP:0002748", + "UPHENO:0051630", + "UPHENO:0068495", + "UPHENO:0048707", + "CHEBI:35350", + "CHEBI:35605", + "HP:0100511", + "HP:0000924", + "HP:0033127", + "HP:0032943", + "HP:0031980", + "UPHENO:0068110", + "UBERON:0001434", + "HP:0002757", + "UBERON:0000479", + "CHEBI:33318", + "UPHENO:0051847", + "UBERON:0006314", + "UPHENO:0066943", + "UBERON:0000916", + "CHEBI:36586", + "HP:0012591", + "UBERON:0002100", + "UBERON:0002417", + "HP:0001507", + "HP:0001871", + "CHEBI:33832", + "UBERON:0000025", + "UPHENO:0081550", + "HP:0033331", + "HP:0003117", + "UBERON:0000463", + "UPHENO:0001003", + "CHEBI:33579", + "UBERON:0005177", + "UBERON:0009569", + "UBERON:0011676", + "UPHENO:0002411", + "CHEBI:24867", + "HP:0012211", + "HP:0012599", + "HP:0000114", + "HP:0002749", + "UBERON:0005173", + "UBERON:0000483", + "UBERON:0015204", + "UPHENO:0024906", + "UBERON:0015212", + "UBERON:0002113", + "UPHENO:0068477", + "UBERON:0013701", + "UBERON:0011143", + "UPHENO:0051804", + "CHEBI:36963", + "HP:0010935", + "UPHENO:0049587", + "HP:0012072", + "HP:0012415", + "UPHENO:0034217", + "CHEBI:33285", + "CHEBI:33674", + "PR:000000001", + "UBERON:0000179", + "UBERON:0034923", + "UBERON:0002390", + "UPHENO:0046286", + "HP:0032180", + "UBERON:0001231", + "UPHENO:0001001", + "UPHENO:0051937", + "UPHENO:0080352", + "UPHENO:0051186", + "CHEBI:36853", + "CHEBI:26079", + "UPHENO:0051686", + "UPHENO:0051960", + "UPHENO:0012541", + "UPHENO:0000543", + "PATO:0000001", + "UPHENO:0049874", + "HP:0000117", + "UPHENO:0052038", + "CHEBI:36587", + "CHEBI:36357", + "PR:000050567", + "HP:0002148", + "UPHENO:0068313", + "UBERON:0004819", + "CHEBI:33559", + "CHEBI:24870", + "CHEBI:36359", + "HP:0003111", + "GO:0006766", + "GO:0098771", + "UPHENO:0048763", + "UPHENO:0068251", + "UBERON:0005172", + "CHEBI:33302", + "CHEBI:33238", + "UPHENO:0051930", + "HP:0003355", + "UPHENO:0004459", + "BFO:0000015", + "UPHENO:0051709", + "HP:0000079", + "GO:0042592", + "UPHENO:0079534", + "BFO:0000003", + "UBERON:0000062", + "BFO:0000002", + "GO:0001503", + "UPHENO:0084653", + "HP:0004349", + "CHEBI:33695", + "UBERON:0002204", + "HP:0004348", + "UPHENO:0068971", + "UBERON:0003103", + "UPHENO:0082835", + "HP:0003330", + "UPHENO:0046284", + "HP:0003110", + "UPHENO:0002803", + "UPHENO:0082834", + "CHEBI:22313", + "CHEBI:51143", + "UPHENO:0034391", + "UPHENO:0077821", + "CHEBI:51958", + "UBERON:0000174", + "CHEBI:50047", + "UBERON:0004211", + "UPHENO:0068047", + "HP:0011277", + "UBERON:0000467", + "CHEBI:25367", + "UPHENO:0075902", + "UPHENO:0066739", + "UBERON:0004122", + "UBERON:0011216", + "UPHENO:0068174", + "UBERON:0000489", + "GO:0008202", + "UBERON:0001088", + "PR:000018263", + "UBERON:0004765", + "HP:0010876", + "UPHENO:0076703", + "UPHENO:0076285", + "UPHENO:0051668", + "UPHENO:0002832", + "UPHENO:0051628", + "UPHENO:0002964", + "BFO:0000004", + "UPHENO:0051900", + "UBERON:0007684", + "GO:0008150", + "UBERON:0001004", + "UBERON:0000475", + "UPHENO:0080658", + "UPHENO:0004536", + "UBERON:0001285", + "UPHENO:0082540", + "CHEBI:26020", + "BFO:0000040", + "HP:0001939", + "UPHENO:0082541", + "UPHENO:0001005", + "HP:0000118", + "UPHENO:0082875", + "UBERON:0003914", + "CHEBI:23367", + "HP:0002659", + "UPHENO:0048711", + "UPHENO:0002642", + "UBERON:0000949", + "UPHENO:0051670", + "UBERON:0013702", + "UPHENO:0068538", + "UPHENO:0075159", + "UPHENO:0076692", + "UPHENO:0077820", + "BFO:0000020", + "GO:1901615", + "UPHENO:0068104", + "HP:0011849", + "UPHENO:0078589", + "UPHENO:0080638", + "UPHENO:0002536", + "UPHENO:0051763", + "UBERON:0001062", + "UPHENO:0046348", + "HP:0000818", + "CHEBI:138675", + "BFO:0000001", + "CHEBI:24651", + "UPHENO:0051739", + "UPHENO:0081544", + "UBERON:0009773", + "HP:0012531", + "UPHENO:0034351", + "UPHENO:0068169", + "HP:0000938", + "UBERON:0004111", + "UPHENO:0034253", + "HP:0000124", + "UBERON:0001008", + "UPHENO:0046291", + "UBERON:8450002", + "CHEBI:33259", + "CHEBI:33635", + "UPHENO:0068247", + "GO:0032501", + "UPHENO:0066927", + "CHEBI:26191", + "UPHENO:0002332", + "CHEBI:72695", + "UPHENO:0081581", + "HP:0002653", + "UPHENO:0082943", + "UBERON:0000465", + "HP:0011843", + "UBERON:0006555" + ], + "has_phenotype_closure_label": [ + "abnormal urine calcium atom level", + "main group element atom", + "metal atom", + "s-block element atom", + "abnormal independent continuant calcium atom level", + "alkaline earth metal atom", + "increased level of calcium atom in independent continuant", + "Abnormality of urine calcium concentration (HPO)", + "Decreased glomerular filtration rate (HPO)", + "Pain (HPO)", + "abnormal calcium atom level", + "decreased height of the multicellular organism", + "delayed biological_process", + "abnormal size of anatomical entity", + "decreased size of the multicellular organism", + "delayed growth", + "abnormal blood protein polypeptide chain level", + "biomacromolecule", + "Alkalemia (HPO)", + "protein", + "Acute phase response (HPO)", + "amino acid chain", + "increased level of chemical entity in blood plasma", + "increased level of nitrogen molecular entity in blood", + "Azotemia (HPO)", + "abnormal blood serum chemical entity level", + "parathyroid hormone", + "abnormal protein level", + "calcium atom", + "Elevated circulating parathyroid hormone level (HPO)", + "abnormal role blood serum level", + "abnormal acid bodily fluid level", + "Abnormal homeostasis (HPO)", + "abnormal blood nitrogen molecular entity level", + "Alkalosis (HPO)", + "glucose", + "aldohexose", + "abnormal independent continuant glucose level", + "monosaccharide", + "increased level of glucose in independent continuant", + "increased level of calcium atom in urine", + "carbohydrates and carbohydrate derivatives", + "abnormal urine glucose level", + "increased level of monosaccharide in urine", + "Abnormal circulating protein concentration (HPO)", + "increased level of monosaccharide in independent continuant", + "Abnormal urine protein level (HPO)", + "amide", + "peptide", + "carboxamide", + "protein polypeptide chain", + "abnormal independent continuant parathyroid hormone level", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in independent continuant", + "increased blood serum base level", + "increased level of parathyroid hormone in blood", + "Abnormal blood gas level (HPO)", + "Abnormal metabolism (HPO)", + "cyclic compound", + "abnormal role blood level", + "abnormal vitamin D level", + "abnormal hormone blood level", + "abnormal lipid metabolic process", + "increased independent continuant hormone level", + "hexose", + "increased level of lipid in independent continuant", + "polyol", + "endocrine system", + "calcitriol", + "seco-steroid", + "Abnormal circulating hormone concentration (HPO)", + "organic cyclic compound", + "glandular system", + "increased level of protein in blood", + "Hyperlipidemia (HPO)", + "abnormal independent continuant lipid level", + "hydroxy steroid", + "Abnormality of the respiratory system (HPO)", + "hydroxy seco-steroid", + "abnormal hormone independent continuant level", + "increased level of protein", + "triol", + "Abnormality of the endocrine system (HPO)", + "vitamin D metabolic process", + "aldose", + "polypeptide", + "hydroxycalciol", + "fat-soluble vitamin metabolic process", + "atom", + "organic cyclic compound metabolic process", + "lipid metabolic process", + "vitamin metabolic process", + "abnormal blood gas molecular entity level", + "information biomacromolecule", + "increased bodily fluid role level", + "abnormal metabolite independent continuant level", + "non-connected functional system", + "increased blood role level", + "increased level of vitamin D", + "abnormal respiratory system", + "abnormal vitamin metabolic process", + "organic substance metabolic process", + "abnormal role bodily fluid level", + "abnormal independent continuant carboxylic acid level", + "vitamin D", + "abnormal independent continuant nitrogen molecular entity level", + "hydrogen molecular entity", + "growth", + "hydroxides", + "Growth delay (HPO)", + "carbon group molecular entity", + "organic molecule", + "primary amide", + "Abnormal urine metabolite level (HPO)", + "carbon oxoacid", + "organooxygen compound", + "heteroorganic entity", + "Constitutional symptom (HPO)", + "organonitrogen compound", + "Organic aciduria (HPO)", + "increased level of organic molecular entity in independent continuant", + "increased level of chemical entity in urine", + "mesoderm-derived structure", + "increased level of carboxylic acid in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "nitrogen molecular entity", + "organochalcogen compound", + "abnormality of respiratory system physiology", + "oxygen molecular entity", + "increased level of glucose in urine", + "Abnormal urine phosphate concentration (HPO)", + "increased level of organic acid in independent continuant", + "increased level of amino acid in urine", + "abnormal acid independent continuant level", + "abnormal blood lipid level", + "oxoacid", + "Hyperproteinemia (HPO)", + "abnormal role independent continuant level", + "bone element", + "abnormal urine amino acid level", + "increased level of organic acid in urine", + "Recurrent fractures (HPO)", + "compound organ", + "increased bodily fluid base level", + "carbohydrate", + "abnormal endocrine system", + "homeostatic process", + "abnormal role urine level", + "renal tubule", + "uriniferous tubule", + "Abnormality of the kidney (HPO)", + "organism subdivision", + "Abnormal glomerular filtration rate (HPO)", + "abnormality of kidney physiology", + "increased level of nitrogen molecular entity in independent continuant", + "Abnormal circulating metabolite concentration (HPO)", + "organic molecular entity", + "nephron", + "Proximal tubulopathy (HPO)", + "Decreased anatomical entity mass density", + "abdomen element", + "nephron tubule", + "anatomical conduit", + "Abnormality of vitamin D metabolism (HPO)", + "chalcogen molecular entity", + "cavitated compound organ", + "gas molecular entity", + "abnormal kidney", + "Short stature (HPO)", + "phosphorus oxoacid derivative", + "epithelium", + "Rickets (HPO)", + "main body axis", + "subdivision of organism along main body axis", + "kidney", + "increased independent continuant base level", + "excretory tube", + "upper urinary tract", + "epithelial tube", + "haemolymphatic fluid", + "hematopoietic system", + "hemolymphoid system", + "Generalized aminoaciduria (HPO)", + "Abnormal urine pH (HPO)", + "organic hydroxy compound metabolic process", + "abnormal blood chemical entity level", + "decreased height of the anatomical entity", + "organic oxo compound", + "Abnormality of blood and blood-forming tissues (HPO)", + "D3 vitamins", + "ion", + "abnormal independent continuant protein level", + "subdivision of trunk", + "elemental molecular entity", + "material entity", + "Abnormal blood phosphate concentration (HPO)", + "inorganic ion homeostasis", + "increased blood serum role level", + "abnormal blood phosphate level", + "increased independent continuant acid level", + "kidney epithelium", + "abnormally decreased functionality of the anatomical entity", + "Abnormal blood ion concentration (HPO)", + "nephron epithelium", + "abnormal independent continuant monoatomic ion level", + "abnormal metabolic process", + "abdomen", + "abnormal phosphate ion homeostasis", + "p-block molecular entity", + "abnormal urine phosphate level", + "abnormal hematopoietic system", + "molecule", + "increased level of lipid", + "urine", + "organism substance", + "increased level of carboxylic acid in urine", + "abnormality of multicellular organism height", + "increased level of protein polypeptide chain in urine", + "increased level of calcitriol in blood", + "anatomical system", + "abnormal independent continuant chemical entity level", + "abnormal blood monoatomic ion level", + "phosphate ion homeostasis", + "decreased level of chemical entity in independent continuant", + "anatomical entity", + "monoatomic ion", + "High serum calcitriol (HPO)", + "increased level of chemical entity", + "increased level of amino acid in independent continuant", + "Abnormal renal physiology (HPO)", + "increased independent continuant role level", + "monoatomic entity", + "Hypercalciuria (HPO)", + "Abnormal respiratory system physiology (HPO)", + "Abnormality of vitamin metabolism (HPO)", + "blood", + "organ system subdivision", + "decreased size of the anatomical entity", + "Abnormal urine carboxylic acid level (HPO)", + "Hypophosphatemia (HPO)", + "musculoskeletal system", + "Osteopenia (HPO)", + "multicellular organismal process", + "increased level of parathyroid hormone in independent continuant", + "Abnormal urinary electrolyte concentration (HPO)", + "pnictogen molecular entity", + "Bone pain (HPO)", + "skeletal element", + "organ", + "abnormal anatomical entity", + "blood plasma", + "chemical homeostasis", + "Abnormality of the skeletal system (HPO)", + "Osteomalacia (HPO)", + "Abnormal skeletal morphology (HPO)", + "abnormally decreased functionality of the nephron tubule", + "abnormal blood oxygen molecular entity level", + "Reduced bone mineral density (HPO)", + "abnormal renal system", + "phenotype", + "abnormal independent continuant amino acid level", + "Elevated urinary carboxylic acid (HPO)", + "Abnormal blood oxygen level (HPO)", + "occurrent", + "abnormal skeletal system morphology", + "abnormal upper urinary tract", + "specifically dependent continuant", + "blood serum", + "organic polycyclic compound", + "abnormal bone element mass density", + "primary metabolic process", + "abnormal anatomical entity morphology", + "abnormal biological_process", + "ossification", + "anatomical entity dysfunction in independent continuant", + "respiratory system", + "Abnormality of urine homeostasis (HPO)", + "Abnormality of bone mineral density (HPO)", + "decreased size of the anatomical entity in the independent continuant", + "increased level of chemical entity in blood serum", + "abnormal independent continuant carbohydrate level", + "amino acid", + "abnormality of anatomical entity physiology", + "steroid metabolic process", + "Abnormality of metabolism/homeostasis (HPO)", + "trunk region element", + "decreased level of chemical entity", + "decreased level of chemical entity in blood", + "Abnormal bone ossification (HPO)", + "multicellular organism", + "Aminoaciduria (HPO)", + "abdominal segment of trunk", + "abnormal independent continuant oxygen molecular entity level", + "oxoacid derivative", + "Abnormality of the genitourinary system (HPO)", + "protein-containing material entity", + "abnormal independent continuant phosphate level", + "Growth abnormality (HPO)", + "abnormality of musculoskeletal system physiology", + "Abnormality of the urinary system (HPO)", + "increased level of protein in independent continuant", + "Glycosuria (HPO)", + "tube", + "abnormal phosphate level", + "Abnormality of body height (HPO)", + "organic hydroxy compound", + "All (HPO)", + "Phenotypic abnormality (HPO)", + "s-block molecular entity", + "genitourinary system", + "abnormality of anatomical entity height", + "excretory system", + "biological_process", + "continuant", + "Abnormality of the musculoskeletal system (HPO)", + "abnormal genitourinary system", + "main group molecular entity", + "polyatomic entity", + "Abnormal circulating lipid concentration (HPO)", + "Abnormality of the upper urinary tract (HPO)", + "material anatomical entity", + "Increased susceptibility to fractures (HPO)", + "abnormal vitamin D metabolic process", + "entity", + "abnormal lipid level", + "body proper", + "abnormal anatomical entity mass density", + "macromolecule", + "Abnormality of the urinary system physiology (HPO)", + "Renal tubular dysfunction (HPO)", + "phosphorus molecular entity", + "abnormal growth", + "increased level of lipid in blood", + "Abnormality of musculoskeletal physiology (HPO)", + "excreta", + "abnormal multicellular organism chemical entity level", + "increased level of chemical entity in independent continuant", + "skeletal system", + "carbonyl compound", + "multicellular anatomical structure", + "trunk", + "abnormal amino acid level", + "Abnormal circulating nitrogen compound concentration (HPO)", + "Proteinuria (HPO)", + "carboxylic acid", + "phosphoric acid derivative", + "increased level of chemical entity in bodily fluid", + "phosphorus oxoacids and derivatives", + "bodily fluid", + "Abnormal bone structure (HPO)", + "increased level of parathyroid hormone in blood serum", + "abnormal phenotype by ontology source", + "quality", + "process", + "polycyclic compound", + "abnormal urine chemical entity level", + "abnormal blood parathyroid hormone level", + "Phenotypic abnormality", + "metabolic process", + "decreased level of phosphate in blood", + "organic amino compound", + "lateral structure", + "increased level of chemical entity in blood", + "abnormal multicellular organism morphology", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "phosphate", + "tissue", + "abnormal chemical entity level", + "disconnected anatomical group", + "molecular entity", + "abnormal blood plasma chemical entity level", + "Decreased bone element mass density", + "abnormality of renal system physiology", + "Renal phosphate wasting (HPO)", + "abdominal segment element", + "increased level of calcitriol in independent continuant", + "abnormal independent continuant gas molecular entity level", + "chemical entity", + "organ part", + "organic acid", + "heteroatomic molecular entity", + "anatomical structure", + "Renal insufficiency (HPO)", + "independent continuant", + "abnormal skeletal system", + "abnormal size of multicellular organism", + "small molecule metabolic process", + "renal system", + "steroid", + "phenotype by ontology source", + "Abnormality of acid-base homeostasis (HPO)", + "Aciduria (HPO)", + "lipid", + "decreased level of phosphate in independent continuant" + ], + "has_phenotype_count": 17, + "highlight": null, + "score": null } ], "facet_fields": [], diff --git a/frontend/public/mockServiceWorker.js b/frontend/public/mockServiceWorker.js index 0acd8ff44..cb86abcd6 100644 --- a/frontend/public/mockServiceWorker.js +++ b/frontend/public/mockServiceWorker.js @@ -2,7 +2,7 @@ /* tslint:disable */ /** - * Mock Service Worker (2.2.2). + * Mock Service Worker (2.2.3). * @see https://github.com/mswjs/msw * - Please do NOT modify this file. * - Please do NOT serve this file on production. diff --git a/frontend/src/api/model.ts b/frontend/src/api/model.ts index fc8146a49..528ae1600 100644 --- a/frontend/src/api/model.ts +++ b/frontend/src/api/model.ts @@ -64,6 +64,14 @@ export interface Association { has_evidence?: string[], /** List of ExpandedCuries with id and url for evidence */ has_evidence_links?: ExpandedCurie[], + /** count of out of has_total representing a frequency */ + has_count?: number, + /** total, devided by has_count, representing a frequency */ + has_total?: number, + /** percentage, which may be calculated from has_count and has_total, as 100 * quotient or provided directly, rounded to the integer level */ + has_percentage?: number, + /** quotient, which should be 1/100 of has_percentage */ + has_quotient?: number, /** A concatenation of fields used to group associations with the same essential/defining properties */ grouping_key?: string, provided_by?: string, @@ -270,6 +278,14 @@ export interface DirectionalAssociation extends Association { has_evidence?: string[], /** List of ExpandedCuries with id and url for evidence */ has_evidence_links?: ExpandedCurie[], + /** count of out of has_total representing a frequency */ + has_count?: number, + /** total, devided by has_count, representing a frequency */ + has_total?: number, + /** percentage, which may be calculated from has_count and has_total, as 100 * quotient or provided directly, rounded to the integer level */ + has_percentage?: number, + /** quotient, which should be 1/100 of has_percentage */ + has_quotient?: number, /** A concatenation of fields used to group associations with the same essential/defining properties */ grouping_key?: string, provided_by?: string, diff --git a/frontend/src/pages/metadata.json b/frontend/src/pages/metadata.json index 9d724aa01..58eea8b10 100644 --- a/frontend/src/pages/metadata.json +++ b/frontend/src/pages/metadata.json @@ -3,22 +3,22 @@ { "label": "Genes", "icon": "category-gene", - "count": 557890 + "count": 558398 }, { "label": "Phenotypes", "icon": "category-phenotypic-quality", - "count": 123270 + "count": 117140 }, { "label": "Diseases", "icon": "category-disease", - "count": 27783 + "count": 26859 }, { "label": "Total Nodes", "icon": "node", - "count": 845366 + "count": 838471 } ], "association": [ @@ -26,24 +26,24 @@ "label": "Gene to Disease", "icon": "category-gene", "icon2": "category-disease", - "count": 15252 + "count": 15123 }, { "label": "Gene to Phenotype", "icon": "category-gene", "icon2": "category-phenotypic-quality", - "count": 759038 + "count": 883194 }, { "label": "Disease to Phenotype", "icon": "category-disease", "icon2": "category-phenotypic-quality", - "count": 243028 + "count": 241605 }, { "label": "Total Associations", "icon": "association", - "count": 9404217 + "count": 10238946 } ] } diff --git a/frontend/src/pages/node/AssociationsTable.vue b/frontend/src/pages/node/AssociationsTable.vue index 1b4b59902..9da7d2b05 100644 --- a/frontend/src/pages/node/AssociationsTable.vue +++ b/frontend/src/pages/node/AssociationsTable.vue @@ -55,6 +55,22 @@ /> + +