diff --git a/docs/odk-workflows/RepositoryFileStructure.md b/docs/odk-workflows/RepositoryFileStructure.md index 6b8d54ede..25d91d9f3 100644 --- a/docs/odk-workflows/RepositoryFileStructure.md +++ b/docs/odk-workflows/RepositoryFileStructure.md @@ -33,6 +33,6 @@ These are the components in MONDO-INGEST | omim.owl | https://github.com/monarch-initiative/omim/releases/latest/download/omim.ttl | | ordo.owl | http://www.orphadata.org/data/ORDO/ORDO_en_4.0.owl | | ncit.owl | http://purl.obolibrary.org/obo/ncit.owl | -| doid.owl | http://purl.obolibrary.org/obo/ncit.owl | +| doid.owl | http://purl.obolibrary.org/obo/doid.owl | | icd10cm.owl | https://data.bioontology.org/ontologies/ICD10CM/submissions/21/download?apikey=8b5b7825-538d-40e0-9e9e-5ab9274a9aeb | | icd10who.owl | https://github.com/monarch-initiative/icd10who/releases/download/latest/icd10who.ttl | diff --git a/src/ontology/Makefile b/src/ontology/Makefile index 5a02f0d74..c34de98e4 100644 --- a/src/ontology/Makefile +++ b/src/ontology/Makefile @@ -354,7 +354,7 @@ $(COMPONENTSDIR)/ncit.owl: component-download-ncit.owl .PHONY: component-download-doid.owl component-download-doid.owl: | $(TMPDIR) - if [ $(MIR) = true ] && [ $(COMP) = true ]; then $(ROBOT) merge -I http://purl.obolibrary.org/obo/ncit.owl \ + if [ $(MIR) = true ] && [ $(COMP) = true ]; then $(ROBOT) merge -I http://purl.obolibrary.org/obo/doid.owl \ annotate --ontology-iri $(ONTBASE)/$@ $(ANNOTATE_ONTOLOGY_VERSION) -o $(TMPDIR)/$@.owl; fi $(COMPONENTSDIR)/doid.owl: component-download-doid.owl diff --git a/src/ontology/mappings/ordo.sssom.tsv b/src/ontology/mappings/ordo.sssom.tsv deleted file mode 100644 index ac12a2b7e..000000000 --- a/src/ontology/mappings/ordo.sssom.tsv +++ /dev/null @@ -1,25938 +0,0 @@ -# curie_map: -# ICD10: http://apps.who.int/classifications/icd10/browse/2010/en#/ -# MESH: https://meshb.nlm.nih.gov/record/ui?ui= -# MedDRA: http://purl.bioontology.org/ontology/MEDDRA/ -# OMIM: https://omim.org/entry/ -# Orphanet: http://www.orpha.net/ORDO/Orphanet_ -# UMLS: http://linkedlifedata.com/resource/umls/id/ -# oboInOwl: http://www.geneontology.org/formats/oboInOwl# -# skos: http://www.w3.org/2004/02/skos/core# -subject_id subject_label predicate_id object_id match_type -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:105650 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:606164 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:618312 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:618310 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref UMLS:C1260899 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:613308 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:612563 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:612561 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:617409 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:612527 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:614900 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref MedDRA:10062989 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref MESH:D029503 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:606129 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:618313 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref ICD10:D61.0 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref UMLS:C2931850 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:615550 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:610629 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:613309 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:300946 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:615909 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:612562 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:617408 Unspecified -Orphanet:124 Blackfan-Diamond anemia oboInOwl:hasDbXref OMIM:612528 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:exactMatch UMLS:C2931850 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:612561 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:612563 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:613308 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:exactMatch MedDRA:10062989 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:617409 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:612527 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:exactMatch MESH:D029503 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:606164 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:broadMatch ICD10:D61.0 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:618312 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:618310 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:615550 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:610629 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:612562 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:615909 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:exactMatch OMIM:105650 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:300946 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:613309 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:614900 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:617408 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:612528 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:606129 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:narrowMatch OMIM:618313 Unspecified -Orphanet:124 Blackfan-Diamond anemia skos:exactMatch UMLS:C1260899 Unspecified -Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref OMIM:603511 Unspecified -Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref UMLS:C3501858 Unspecified -Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 skos:exactMatch UMLS:C3501858 Unspecified -Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 skos:exactMatch OMIM:603511 Unspecified -Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref MESH:C537633 Unspecified -Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref UMLS:C0266006 Unspecified -Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref OMIM:262000 Unspecified -Orphanet:123 Björnstad syndrome skos:exactMatch OMIM:262000 Unspecified -Orphanet:123 Björnstad syndrome skos:exactMatch UMLS:C0266006 Unspecified -Orphanet:123 Björnstad syndrome skos:exactMatch MESH:C537633 Unspecified -Orphanet:123 Björnstad syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref UMLS:C1876175 Unspecified -Orphanet:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref ICD10:G11.3 Unspecified -Orphanet:370109 Ataxia-telangiectasia variant skos:broadMatch ICD10:G11.3 Unspecified -Orphanet:370109 Ataxia-telangiectasia variant skos:exactMatch UMLS:C1876175 Unspecified -Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref OMIM:607155 Unspecified -Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref UMLS:C1846672 Unspecified -Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 skos:exactMatch UMLS:C1846672 Unspecified -Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 skos:exactMatch OMIM:607155 Unspecified -Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref UMLS:C1866008 Unspecified -Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref OMIM:601954 Unspecified -Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 skos:exactMatch UMLS:C1866008 Unspecified -Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 skos:exactMatch OMIM:601954 Unspecified -Orphanet:125 Bloom syndrome oboInOwl:hasDbXref UMLS:C0005859 Unspecified -Orphanet:125 Bloom syndrome oboInOwl:hasDbXref MESH:D001816 Unspecified -Orphanet:125 Bloom syndrome oboInOwl:hasDbXref ICD10:Q82.2 Unspecified -Orphanet:125 Bloom syndrome oboInOwl:hasDbXref OMIM:210900 Unspecified -Orphanet:125 Bloom syndrome skos:exactMatch UMLS:C0005859 Unspecified -Orphanet:125 Bloom syndrome skos:broadMatch ICD10:Q82.2 Unspecified -Orphanet:125 Bloom syndrome skos:exactMatch MESH:D001816 Unspecified -Orphanet:125 Bloom syndrome skos:exactMatch OMIM:210900 Unspecified -Orphanet:128 Diphyllobothriasis oboInOwl:hasDbXref UMLS:C0277032 Unspecified -Orphanet:128 Diphyllobothriasis oboInOwl:hasDbXref MedDRA:10013029 Unspecified -Orphanet:128 Diphyllobothriasis oboInOwl:hasDbXref UMLS:C0012561 Unspecified -Orphanet:128 Diphyllobothriasis oboInOwl:hasDbXref ICD10:B70.0 Unspecified -Orphanet:128 Diphyllobothriasis skos:exactMatch ICD10:B70.0 Unspecified -Orphanet:128 Diphyllobothriasis skos:exactMatch UMLS:C0012561 Unspecified -Orphanet:128 Diphyllobothriasis skos:exactMatch UMLS:C0277032 Unspecified -Orphanet:128 Diphyllobothriasis skos:exactMatch MedDRA:10013029 Unspecified -Orphanet:129 Pseudopelade of Brocq oboInOwl:hasDbXref ICD10:L66.0 Unspecified -Orphanet:129 Pseudopelade of Brocq oboInOwl:hasDbXref MESH:C531609 Unspecified -Orphanet:129 Pseudopelade of Brocq oboInOwl:hasDbXref UMLS:C0086873 Unspecified -Orphanet:129 Pseudopelade of Brocq skos:exactMatch UMLS:C0086873 Unspecified -Orphanet:129 Pseudopelade of Brocq skos:exactMatch MESH:C531609 Unspecified -Orphanet:129 Pseudopelade of Brocq skos:broadMatch ICD10:L66.0 Unspecified -Orphanet:2566 Chronic Epstein-Barr virus infection syndrome oboInOwl:hasDbXref OMIM:226990 Unspecified -Orphanet:2566 Chronic Epstein-Barr virus infection syndrome oboInOwl:hasDbXref ICD10:B27.0 Unspecified -Orphanet:2566 Chronic Epstein-Barr virus infection syndrome skos:exactMatch OMIM:226990 Unspecified -Orphanet:2566 Chronic Epstein-Barr virus infection syndrome skos:broadMatch ICD10:B27.0 Unspecified -Orphanet:370103 Primary dystonia, DYT17 type oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:370103 Primary dystonia, DYT17 type oboInOwl:hasDbXref OMIM:612406 Unspecified -Orphanet:370103 Primary dystonia, DYT17 type skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:370103 Primary dystonia, DYT17 type skos:exactMatch OMIM:612406 Unspecified -Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref OMIM:616158 Unspecified -Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome skos:narrowMatch OMIM:616158 Unspecified -Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:289356 Primary non-gestational choriocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:289356 Primary non-gestational choriocarcinoma of ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref MESH:C537663 Unspecified -Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref ICD10:L98.8 Unspecified -Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref UMLS:C0346104 Unspecified -Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref OMIM:301845 Unspecified -Orphanet:113 Bazex-Dupré-Christol syndrome skos:exactMatch MESH:C537663 Unspecified -Orphanet:113 Bazex-Dupré-Christol syndrome skos:exactMatch UMLS:C0346104 Unspecified -Orphanet:113 Bazex-Dupré-Christol syndrome skos:broadMatch ICD10:L98.8 Unspecified -Orphanet:113 Bazex-Dupré-Christol syndrome skos:exactMatch OMIM:301845 Unspecified -Orphanet:34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia oboInOwl:hasDbXref OMIM:616418 Unspecified -Orphanet:34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia oboInOwl:hasDbXref OMIM:611718 Unspecified -Orphanet:34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia oboInOwl:hasDbXref OMIM:613882 Unspecified -Orphanet:34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia oboInOwl:hasDbXref ICD10:E83.4 Unspecified -Orphanet:34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia skos:narrowMatch OMIM:611718 Unspecified -Orphanet:34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia skos:narrowMatch OMIM:616418 Unspecified -Orphanet:34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia skos:narrowMatch OMIM:613882 Unspecified -Orphanet:34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia skos:broadMatch ICD10:E83.4 Unspecified -Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref OMIM:618882 Unspecified -Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref UMLS:C1306856 Unspecified -Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref ICD10:D51.1 Unspecified -Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref OMIM:261100 Unspecified -Orphanet:35858 Imerslund-Gräsbeck syndrome skos:exactMatch OMIM:261100 Unspecified -Orphanet:35858 Imerslund-Gräsbeck syndrome skos:broadMatch ICD10:D51.1 Unspecified -Orphanet:35858 Imerslund-Gräsbeck syndrome skos:exactMatch UMLS:C1306856 Unspecified -Orphanet:35858 Imerslund-Gräsbeck syndrome skos:exactMatch OMIM:618882 Unspecified -Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:607364 Unspecified -Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:601678 Unspecified -Orphanet:112 Bartter syndrome oboInOwl:hasDbXref ICD10:E26.8 Unspecified -Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:300971 Unspecified -Orphanet:112 Bartter syndrome oboInOwl:hasDbXref MESH:D001477 Unspecified -Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:613090 Unspecified -Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:601198 Unspecified -Orphanet:112 Bartter syndrome oboInOwl:hasDbXref UMLS:C0004775 Unspecified -Orphanet:112 Bartter syndrome oboInOwl:hasDbXref MedDRA:10050839 Unspecified -Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:602522 Unspecified -Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:241200 Unspecified -Orphanet:112 Bartter syndrome skos:exactMatch MedDRA:10050839 Unspecified -Orphanet:112 Bartter syndrome skos:exactMatch UMLS:C0004775 Unspecified -Orphanet:112 Bartter syndrome skos:narrowMatch OMIM:300971 Unspecified -Orphanet:112 Bartter syndrome skos:broadMatch OMIM:601198 Unspecified -Orphanet:112 Bartter syndrome skos:narrowMatch OMIM:607364 Unspecified -Orphanet:112 Bartter syndrome skos:narrowMatch OMIM:601678 Unspecified -Orphanet:112 Bartter syndrome skos:narrowMatch OMIM:241200 Unspecified -Orphanet:112 Bartter syndrome skos:narrowMatch OMIM:602522 Unspecified -Orphanet:112 Bartter syndrome skos:broadMatch ICD10:E26.8 Unspecified -Orphanet:112 Bartter syndrome skos:exactMatch MESH:D001477 Unspecified -Orphanet:112 Bartter syndrome skos:narrowMatch OMIM:613090 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref MESH:C537189 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref UMLS:C0342683 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref OMIM:203290 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref UMLS:C2931599 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref MESH:C537731 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 skos:exactMatch MESH:C537731 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 skos:exactMatch OMIM:203290 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 skos:exactMatch UMLS:C2931599 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 skos:exactMatch UMLS:C0342683 Unspecified -Orphanet:79433 Oculocutaneous albinism type 3 skos:exactMatch MESH:C537189 Unspecified -Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref ICD10:D82.8 Unspecified -Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref UMLS:C1848144 Unspecified -Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref OMIM:300076 Unspecified -Orphanet:2571 X-linked immunoneurologic disorder skos:broadMatch ICD10:D82.8 Unspecified -Orphanet:2571 X-linked immunoneurologic disorder skos:exactMatch UMLS:C1848144 Unspecified -Orphanet:2571 X-linked immunoneurologic disorder skos:exactMatch OMIM:300076 Unspecified -Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref OMIM:606574 Unspecified -Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref UMLS:C1847836 Unspecified -Orphanet:79435 Oculocutaneous albinism type 4 skos:exactMatch UMLS:C1847836 Unspecified -Orphanet:79435 Oculocutaneous albinism type 4 skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:79435 Oculocutaneous albinism type 4 skos:exactMatch OMIM:606574 Unspecified -Orphanet:117 Behçet disease oboInOwl:hasDbXref UMLS:C0004943 Unspecified -Orphanet:117 Behçet disease oboInOwl:hasDbXref MedDRA:10004213 Unspecified -Orphanet:117 Behçet disease oboInOwl:hasDbXref ICD10:M35.2 Unspecified -Orphanet:117 Behçet disease oboInOwl:hasDbXref MESH:D001528 Unspecified -Orphanet:117 Behçet disease oboInOwl:hasDbXref OMIM:109650 Unspecified -Orphanet:117 Behçet disease skos:exactMatch MESH:D001528 Unspecified -Orphanet:117 Behçet disease skos:exactMatch OMIM:109650 Unspecified -Orphanet:117 Behçet disease skos:exactMatch MedDRA:10004213 Unspecified -Orphanet:117 Behçet disease skos:exactMatch ICD10:M35.2 Unspecified -Orphanet:117 Behçet disease skos:exactMatch UMLS:C0004943 Unspecified -Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref OMIM:250215 Unspecified -Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref MESH:C537350 Unspecified -Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref UMLS:C1855243 Unspecified -Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref ICD10:Q78.5 Unspecified -Orphanet:1240 Metaphyseal acroscyphodysplasia skos:broadMatch ICD10:Q78.5 Unspecified -Orphanet:1240 Metaphyseal acroscyphodysplasia skos:exactMatch UMLS:C1855243 Unspecified -Orphanet:1240 Metaphyseal acroscyphodysplasia skos:exactMatch MESH:C537350 Unspecified -Orphanet:1240 Metaphyseal acroscyphodysplasia skos:exactMatch OMIM:250215 Unspecified -Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref UMLS:C1858593 Unspecified -Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref UMLS:C2930900 Unspecified -Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref OMIM:604286 Unspecified -Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 skos:exactMatch OMIM:604286 Unspecified -Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 skos:exactMatch UMLS:C2930900 Unspecified -Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 skos:exactMatch UMLS:C1858593 Unspecified -Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref UMLS:C2931893 Unspecified -Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref MESH:D044905 Unspecified -Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref ICD10:E77.1 Unspecified -Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref UMLS:C0342849 Unspecified -Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref OMIM:248510 Unspecified -Orphanet:118 Beta-mannosidosis skos:exactMatch OMIM:248510 Unspecified -Orphanet:118 Beta-mannosidosis skos:broadMatch ICD10:E77.1 Unspecified -Orphanet:118 Beta-mannosidosis skos:exactMatch UMLS:C0342849 Unspecified -Orphanet:118 Beta-mannosidosis skos:exactMatch MESH:D044905 Unspecified -Orphanet:118 Beta-mannosidosis skos:exactMatch UMLS:C2931893 Unspecified -Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref UMLS:C2750786 Unspecified -Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref OMIM:613204 Unspecified -Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency skos:exactMatch OMIM:613204 Unspecified -Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency skos:exactMatch UMLS:C2750786 Unspecified -Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref UMLS:C0339510 Unspecified -Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref UMLS:C2745945 Unspecified -Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:153700 Unspecified -Orphanet:1243 Best vitelliform macular dystrophy skos:exactMatch OMIM:153700 Unspecified -Orphanet:1243 Best vitelliform macular dystrophy skos:exactMatch UMLS:C2745945 Unspecified -Orphanet:1243 Best vitelliform macular dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:1243 Best vitelliform macular dystrophy skos:exactMatch UMLS:C0339510 Unspecified -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref UMLS:C0342281 Unspecified -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref UMLS:C2931765 Unspecified -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref OMIM:158500 Unspecified -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref MESH:C538193 Unspecified -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch UMLS:C2931765 Unspecified -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch MESH:C538193 Unspecified -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch OMIM:158500 Unspecified -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch UMLS:C0342281 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614171 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:608233 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:203300 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614072 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614074 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614076 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:619172 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:617050 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614073 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614075 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614077 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref MedDRA:10071775 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref UMLS:C0079504 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:619172 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614072 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614076 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614074 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:exactMatch UMLS:C0079504 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:exactMatch MedDRA:10071775 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614171 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:203300 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:608233 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614075 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614073 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614077 Unspecified -Orphanet:79430 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:617050 Unspecified -Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609621 Unspecified -Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref ICD10:I49.8 Unspecified -Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609622 Unspecified -Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609620 Unspecified -Orphanet:51083 Familial short QT syndrome skos:broadMatch ICD10:I49.8 Unspecified -Orphanet:51083 Familial short QT syndrome skos:narrowMatch OMIM:609621 Unspecified -Orphanet:51083 Familial short QT syndrome skos:exactMatch OMIM:609620 Unspecified -Orphanet:51083 Familial short QT syndrome skos:narrowMatch OMIM:609622 Unspecified -Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref UMLS:C1849085 Unspecified -Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref OMIM:271320 Unspecified -Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome skos:exactMatch UMLS:C1849085 Unspecified -Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome skos:exactMatch OMIM:271320 Unspecified -Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref UMLS:C2931384 Unspecified -Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref ICD10:I67.5 Unspecified -Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:608796 Unspecified -Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:607151 Unspecified -Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref MESH:C536991 Unspecified -Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:252350 Unspecified -Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref UMLS:C0026654 Unspecified -Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref MESH:D009072 Unspecified -Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref MedDRA:10028047 Unspecified -Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:614042 Unspecified -Orphanet:2573 Moyamoya disease skos:narrowMatch OMIM:608796 Unspecified -Orphanet:2573 Moyamoya disease skos:exactMatch OMIM:252350 Unspecified -Orphanet:2573 Moyamoya disease skos:exactMatch MedDRA:10028047 Unspecified -Orphanet:2573 Moyamoya disease skos:exactMatch MESH:D009072 Unspecified -Orphanet:2573 Moyamoya disease skos:exactMatch UMLS:C0026654 Unspecified -Orphanet:2573 Moyamoya disease skos:narrowMatch OMIM:607151 Unspecified -Orphanet:2573 Moyamoya disease skos:exactMatch MESH:C536991 Unspecified -Orphanet:2573 Moyamoya disease skos:exactMatch ICD10:I67.5 Unspecified -Orphanet:2573 Moyamoya disease skos:narrowMatch OMIM:614042 Unspecified -Orphanet:2573 Moyamoya disease skos:exactMatch UMLS:C2931384 Unspecified -Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref OMIM:181460 Unspecified -Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.0 Unspecified -Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.2 Unspecified -Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.8 Unspecified -Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref MESH:D012552 Unspecified -Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref UMLS:C0036323 Unspecified -Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.1 Unspecified -Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.3 Unspecified -Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.9 Unspecified -Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref MedDRA:10039603 Unspecified -Orphanet:1247 Schistosomiasis skos:narrowMatch ICD10:B65.3 Unspecified -Orphanet:1247 Schistosomiasis skos:narrowMatch ICD10:B65.1 Unspecified -Orphanet:1247 Schistosomiasis skos:narrowMatch ICD10:B65.9 Unspecified -Orphanet:1247 Schistosomiasis skos:exactMatch MedDRA:10039603 Unspecified -Orphanet:1247 Schistosomiasis skos:exactMatch UMLS:C0036323 Unspecified -Orphanet:1247 Schistosomiasis skos:narrowMatch ICD10:B65.2 Unspecified -Orphanet:1247 Schistosomiasis skos:narrowMatch ICD10:B65.0 Unspecified -Orphanet:1247 Schistosomiasis skos:narrowMatch ICD10:B65.8 Unspecified -Orphanet:1247 Schistosomiasis skos:exactMatch MESH:D012552 Unspecified -Orphanet:1247 Schistosomiasis skos:narrowMatch OMIM:181460 Unspecified -Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref ICD10:M89.5 Unspecified -Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref OMIM:259600 Unspecified -Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref OMIM:277950 Unspecified -Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum skos:narrowMatch OMIM:259600 Unspecified -Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum skos:narrowMatch OMIM:277950 Unspecified -Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum skos:broadMatch ICD10:M89.5 Unspecified -Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref MESH:C537730 Unspecified -Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref OMIM:203200 Unspecified -Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref UMLS:C0268495 Unspecified -Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:79432 Oculocutaneous albinism type 2 skos:exactMatch UMLS:C0268495 Unspecified -Orphanet:79432 Oculocutaneous albinism type 2 skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:79432 Oculocutaneous albinism type 2 skos:exactMatch OMIM:203200 Unspecified -Orphanet:79432 Oculocutaneous albinism type 2 skos:exactMatch MESH:C537730 Unspecified -Orphanet:111 Barth syndrome oboInOwl:hasDbXref MESH:D056889 Unspecified -Orphanet:111 Barth syndrome oboInOwl:hasDbXref OMIM:302060 Unspecified -Orphanet:111 Barth syndrome oboInOwl:hasDbXref UMLS:C0574083 Unspecified -Orphanet:111 Barth syndrome oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:111 Barth syndrome skos:exactMatch OMIM:302060 Unspecified -Orphanet:111 Barth syndrome skos:exactMatch UMLS:C0574083 Unspecified -Orphanet:111 Barth syndrome skos:exactMatch MESH:D056889 Unspecified -Orphanet:111 Barth syndrome skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref OMIM:169500 Unspecified -Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref UMLS:C1868512 Unspecified -Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref UMLS:C3164344 Unspecified -Orphanet:99027 Adult-onset autosomal dominant leukodystrophy skos:exactMatch UMLS:C1868512 Unspecified -Orphanet:99027 Adult-onset autosomal dominant leukodystrophy skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:99027 Adult-onset autosomal dominant leukodystrophy skos:exactMatch OMIM:169500 Unspecified -Orphanet:99027 Adult-onset autosomal dominant leukodystrophy skos:exactMatch UMLS:C3164344 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:605231 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615988 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615984 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615986 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615982 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615995 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615993 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:600151 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615991 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref UMLS:C0752166 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:617119 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:617406 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref MESH:D020788 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615987 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615985 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615983 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615981 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615989 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615994 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615996 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615992 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615990 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref MedDRA:10056715 Unspecified -Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:209900 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:exactMatch MedDRA:10056715 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615982 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615984 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615986 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615988 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:600151 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615991 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615993 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615995 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:605231 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:exactMatch MESH:D020788 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:617119 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615981 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615983 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615985 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615987 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615989 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615990 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615992 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615994 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:615996 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:617406 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:exactMatch UMLS:C0752166 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:110 Bardet-Biedl syndrome skos:narrowMatch OMIM:209900 Unspecified -Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref OMIM:613600 Unspecified -Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref ICD10:I49.8 Unspecified -Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval skos:broadMatch ICD10:I49.8 Unspecified -Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval skos:exactMatch OMIM:613600 Unspecified -Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref OMIM:219721 Unspecified -Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS:C2931402 Unspecified -Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch OMIM:219721 Unspecified -Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch UMLS:C2931402 Unspecified -Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref ICD10:E23.0 Unspecified -Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref OMIM:262600 Unspecified -Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref OMIM:312000 Unspecified -Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref MedDRA:10033662 Unspecified -Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref UMLS:C0242343 Unspecified -Orphanet:90695 Non-acquired panhypopituitarism skos:exactMatch UMLS:C0242343 Unspecified -Orphanet:90695 Non-acquired panhypopituitarism skos:exactMatch MedDRA:10033662 Unspecified -Orphanet:90695 Non-acquired panhypopituitarism skos:broadMatch ICD10:E23.0 Unspecified -Orphanet:90695 Non-acquired panhypopituitarism skos:narrowMatch OMIM:262600 Unspecified -Orphanet:90695 Non-acquired panhypopituitarism skos:narrowMatch OMIM:312000 Unspecified -Orphanet:586130 Sporadic fatal insomnia oboInOwl:hasDbXref ICD10:A81.9 Unspecified -Orphanet:586130 Sporadic fatal insomnia skos:broadMatch ICD10:A81.9 Unspecified -Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref ICD10:G40.5 Unspecified -Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:132100 Unspecified -Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:609572 Unspecified -Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref UMLS:C0393720 Unspecified -Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:609573 Unspecified -Orphanet:166409 Photosensitive epilepsy skos:exactMatch UMLS:C0393720 Unspecified -Orphanet:166409 Photosensitive epilepsy skos:narrowMatch OMIM:609572 Unspecified -Orphanet:166409 Photosensitive epilepsy skos:exactMatch OMIM:132100 Unspecified -Orphanet:166409 Photosensitive epilepsy skos:narrowMatch OMIM:609573 Unspecified -Orphanet:166409 Photosensitive epilepsy skos:broadMatch ICD10:G40.5 Unspecified -Orphanet:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbXref OMIM:616176 Unspecified -Orphanet:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:438207 Severe autosomal recessive macrothrombocytopenia skos:exactMatch OMIM:616176 Unspecified -Orphanet:438207 Severe autosomal recessive macrothrombocytopenia skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref ICD10:E34.3 Unspecified -Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 Unspecified -Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref OMIM:618985 Unspecified -Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref OMIM:245590 Unspecified -Orphanet:220465 Laron syndrome with immunodeficiency skos:narrowMatch OMIM:245590 Unspecified -Orphanet:220465 Laron syndrome with immunodeficiency skos:broadMatch ICD10:D82.8 Unspecified -Orphanet:220465 Laron syndrome with immunodeficiency skos:narrowMatch OMIM:618985 Unspecified -Orphanet:220465 Laron syndrome with immunodeficiency skos:broadMatch ICD10:E34.3 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:612591 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C2674616 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:175100 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:615083 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:616415 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref MESH:C538265 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:608456 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis skos:exactMatch MESH:C538265 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis skos:broadMatch ICD10:D12.6 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:175100 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:612591 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis skos:exactMatch UMLS:C2674616 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:608456 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:615083 Unspecified -Orphanet:220460 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:616415 Unspecified -Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref OMIM:154020 Unspecified -Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref UMLS:C1835171 Unspecified -Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref ICD10:E83.4 Unspecified -Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria skos:broadMatch ICD10:E83.4 Unspecified -Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria skos:exactMatch OMIM:154020 Unspecified -Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria skos:exactMatch UMLS:C1835171 Unspecified -Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome oboInOwl:hasDbXref OMIM:612714 Unspecified -Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome oboInOwl:hasDbXref UMLS:C2675184 Unspecified -Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch OMIM:612714 Unspecified -Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch UMLS:C2675184 Unspecified -Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref MESH:C535962 Unspecified -Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref UMLS:C0432317 Unspecified -Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref OMIM:131950 Unspecified -Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch OMIM:131950 Unspecified -Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch MESH:C535962 Unspecified -Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch UMLS:C0432317 Unspecified -Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238463 Unspecified -Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 Unspecified -Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref OMIM:607464 Unspecified -Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref OMIM:188550 Unspecified -Orphanet:146 Differentiated thyroid carcinoma skos:broadMatch OMIM:188550 Unspecified -Orphanet:146 Differentiated thyroid carcinoma skos:broadMatch ICD10:C73 Unspecified -Orphanet:146 Differentiated thyroid carcinoma skos:exactMatch UMLS:C0238463 Unspecified -Orphanet:146 Differentiated thyroid carcinoma skos:narrowMatch OMIM:607464 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome oboInOwl:hasDbXref OMIM:604370 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome oboInOwl:hasDbXref UMLS:C0677776 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome oboInOwl:hasDbXref OMIM:612555 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C50 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome oboInOwl:hasDbXref OMIM:614291 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome oboInOwl:hasDbXref OMIM:613399 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:604370 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:612555 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:613399 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome skos:exactMatch UMLS:C0677776 Unspecified -Orphanet:145 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:614291 Unspecified -Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS:C0080333 Unspecified -Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:131800 Unspecified -Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:79400 Localized epidermolysis bullosa simplex skos:exactMatch OMIM:131800 Unspecified -Orphanet:79400 Localized epidermolysis bullosa simplex skos:exactMatch UMLS:C0080333 Unspecified -Orphanet:79400 Localized epidermolysis bullosa simplex skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref ICD10:Q81.8 Unspecified -Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref UMLS:C1856934 Unspecified -Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref OMIM:226730 Unspecified -Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch UMLS:C1856934 Unspecified -Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia skos:broadMatch ICD10:Q81.8 Unspecified -Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch OMIM:226730 Unspecified -Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 Unspecified -Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226650 Unspecified -Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa skos:broadMatch OMIM:226650 Unspecified -Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa skos:broadMatch ICD10:Q81.8 Unspecified -Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref ICD10:E72.2 Unspecified -Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref OMIM:237300 Unspecified -Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref MedDRA:10058297 Unspecified -Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref UMLS:C0751753 Unspecified -Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency skos:exactMatch UMLS:C0751753 Unspecified -Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency skos:broadMatch ICD10:E72.2 Unspecified -Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency skos:exactMatch OMIM:237300 Unspecified -Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency skos:exactMatch MedDRA:10058297 Unspecified -Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref UMLS:C2673609 Unspecified -Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref ICD10:Q81.8 Unspecified -Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref OMIM:226650 Unspecified -Orphanet:79405 Junctional epidermolysis bullosa inversa skos:exactMatch UMLS:C2673609 Unspecified -Orphanet:79405 Junctional epidermolysis bullosa inversa skos:broadMatch ICD10:Q81.8 Unspecified -Orphanet:79405 Junctional epidermolysis bullosa inversa skos:broadMatch OMIM:226650 Unspecified -Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226700 Unspecified -Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079683 Unspecified -Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.1 Unspecified -Orphanet:79404 Severe generalized junctional epidermolysis bullosa skos:exactMatch ICD10:Q81.1 Unspecified -Orphanet:79404 Severe generalized junctional epidermolysis bullosa skos:exactMatch UMLS:C0079683 Unspecified -Orphanet:79404 Severe generalized junctional epidermolysis bullosa skos:exactMatch OMIM:226700 Unspecified -Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref UMLS:C1835931 Unspecified -Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref OMIM:609889 Unspecified -Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch UMLS:C1835931 Unspecified -Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch OMIM:609889 Unspecified -Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 Unspecified -Orphanet:79406 Late-onset junctional epidermolysis bullosa skos:broadMatch ICD10:Q81.8 Unspecified -Orphanet:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref ICD10:E80.3 Unspecified -Orphanet:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref OMIM:254600 Unspecified -Orphanet:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref UMLS:C0398595 Unspecified -Orphanet:2587 Myeloperoxidase deficiency skos:exactMatch OMIM:254600 Unspecified -Orphanet:2587 Myeloperoxidase deficiency skos:exactMatch UMLS:C0398595 Unspecified -Orphanet:2587 Myeloperoxidase deficiency skos:broadMatch ICD10:E80.3 Unspecified -Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 Unspecified -Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref OMIM:613340 Unspecified -Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref OMIM:613339 Unspecified -Orphanet:166412 Hot water reflex epilepsy skos:exactMatch OMIM:613339 Unspecified -Orphanet:166412 Hot water reflex epilepsy skos:narrowMatch OMIM:613340 Unspecified -Orphanet:166412 Hot water reflex epilepsy skos:broadMatch ICD10:G40.5 Unspecified -Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.0 Unspecified -Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.9 Unspecified -Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.1 Unspecified -Orphanet:2583 Mycetoma oboInOwl:hasDbXref MESH:D008271 Unspecified -Orphanet:2583 Mycetoma oboInOwl:hasDbXref UMLS:C0024449 Unspecified -Orphanet:2583 Mycetoma oboInOwl:hasDbXref MedDRA:10028427 Unspecified -Orphanet:2583 Mycetoma skos:exactMatch MESH:D008271 Unspecified -Orphanet:2583 Mycetoma skos:exactMatch MedDRA:10028427 Unspecified -Orphanet:2583 Mycetoma skos:exactMatch UMLS:C0024449 Unspecified -Orphanet:2583 Mycetoma skos:narrowMatch ICD10:B47.0 Unspecified -Orphanet:2583 Mycetoma skos:narrowMatch ICD10:B47.1 Unspecified -Orphanet:2583 Mycetoma skos:narrowMatch ICD10:B47.9 Unspecified -Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref UMLS:C1862259 Unspecified -Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref MESH:C536236 Unspecified -Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref OMIM:110150 Unspecified -Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref ICD10:Q15.8 Unspecified -Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome skos:broadMatch ICD10:Q15.8 Unspecified -Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch OMIM:110150 Unspecified -Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch MESH:C536236 Unspecified -Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch UMLS:C1862259 Unspecified -Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238461 Unspecified -Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref MESH:C536910 Unspecified -Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 Unspecified -Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref MedDRA:10002240 Unspecified -Orphanet:142 Anaplastic thyroid carcinoma skos:exactMatch MedDRA:10002240 Unspecified -Orphanet:142 Anaplastic thyroid carcinoma skos:broadMatch ICD10:C73 Unspecified -Orphanet:142 Anaplastic thyroid carcinoma skos:exactMatch UMLS:C0238461 Unspecified -Orphanet:142 Anaplastic thyroid carcinoma skos:exactMatch MESH:C536910 Unspecified -Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref OMIM:311070 Unspecified -Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref UMLS:C1839566 Unspecified -Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 skos:exactMatch OMIM:311070 Unspecified -Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 skos:exactMatch UMLS:C1839566 Unspecified -Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref UMLS:C3711370 Unspecified -Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref UMLS:C1846564 Unspecified -Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref OMIM:607259 Unspecified -Orphanet:99013 Spastic paraplegia type 7 skos:exactMatch OMIM:607259 Unspecified -Orphanet:99013 Spastic paraplegia type 7 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:99013 Spastic paraplegia type 7 skos:exactMatch UMLS:C3711370 Unspecified -Orphanet:99013 Spastic paraplegia type 7 skos:exactMatch UMLS:C1846564 Unspecified -Orphanet:141 Canavan disease oboInOwl:hasDbXref UMLS:C3542499 Unspecified -Orphanet:141 Canavan disease oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:141 Canavan disease oboInOwl:hasDbXref UMLS:C0206307 Unspecified -Orphanet:141 Canavan disease oboInOwl:hasDbXref MESH:D017825 Unspecified -Orphanet:141 Canavan disease oboInOwl:hasDbXref OMIM:271900 Unspecified -Orphanet:141 Canavan disease oboInOwl:hasDbXref MedDRA:10067608 Unspecified -Orphanet:141 Canavan disease skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:141 Canavan disease skos:exactMatch OMIM:271900 Unspecified -Orphanet:141 Canavan disease skos:exactMatch MedDRA:10067608 Unspecified -Orphanet:141 Canavan disease skos:exactMatch MESH:D017825 Unspecified -Orphanet:141 Canavan disease skos:exactMatch UMLS:C0206307 Unspecified -Orphanet:141 Canavan disease skos:exactMatch UMLS:C3542499 Unspecified -Orphanet:2584 Classic mycosis fungoides oboInOwl:hasDbXref ICD10:C84.0 Unspecified -Orphanet:2584 Classic mycosis fungoides oboInOwl:hasDbXref OMIM:254400 Unspecified -Orphanet:2584 Classic mycosis fungoides skos:exactMatch OMIM:254400 Unspecified -Orphanet:2584 Classic mycosis fungoides skos:broadMatch ICD10:C84.0 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:120435 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614385 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614350 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:609310 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref MedDRA:10051981 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614337 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614331 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref UMLS:C1333990 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref UMLS:C1112155 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref ICD10:D48.9 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:613244 Unspecified -Orphanet:144 Lynch syndrome oboInOwl:hasDbXref MESH:D003123 Unspecified -Orphanet:144 Lynch syndrome skos:exactMatch UMLS:C1333990 Unspecified -Orphanet:144 Lynch syndrome skos:exactMatch UMLS:C1112155 Unspecified -Orphanet:144 Lynch syndrome skos:narrowMatch OMIM:613244 Unspecified -Orphanet:144 Lynch syndrome skos:exactMatch MESH:D003123 Unspecified -Orphanet:144 Lynch syndrome skos:narrowMatch OMIM:614331 Unspecified -Orphanet:144 Lynch syndrome skos:narrowMatch OMIM:614337 Unspecified -Orphanet:144 Lynch syndrome skos:exactMatch MedDRA:10051981 Unspecified -Orphanet:144 Lynch syndrome skos:broadMatch ICD10:D48.9 Unspecified -Orphanet:144 Lynch syndrome skos:narrowMatch OMIM:609310 Unspecified -Orphanet:144 Lynch syndrome skos:narrowMatch OMIM:614350 Unspecified -Orphanet:144 Lynch syndrome skos:narrowMatch OMIM:614385 Unspecified -Orphanet:144 Lynch syndrome skos:exactMatch OMIM:120435 Unspecified -Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref UMLS:C1839264 Unspecified -Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref OMIM:312920 Unspecified -Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref MESH:C536857 Unspecified -Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:99015 Spastic paraplegia type 2 skos:exactMatch MESH:C536857 Unspecified -Orphanet:99015 Spastic paraplegia type 2 skos:exactMatch OMIM:312920 Unspecified -Orphanet:99015 Spastic paraplegia type 2 skos:exactMatch UMLS:C1839264 Unspecified -Orphanet:99015 Spastic paraplegia type 2 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref UMLS:C0687150 Unspecified -Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref ICD10:C75.0 Unspecified -Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref OMIM:608266 Unspecified -Orphanet:143 Parathyroid carcinoma skos:exactMatch OMIM:608266 Unspecified -Orphanet:143 Parathyroid carcinoma skos:broadMatch ICD10:C75.0 Unspecified -Orphanet:143 Parathyroid carcinoma skos:exactMatch UMLS:C0687150 Unspecified -Orphanet:166418 Eating reflex epilepsy oboInOwl:hasDbXref UMLS:C0393725 Unspecified -Orphanet:166418 Eating reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 Unspecified -Orphanet:166418 Eating reflex epilepsy skos:broadMatch ICD10:G40.5 Unspecified -Orphanet:166418 Eating reflex epilepsy skos:exactMatch UMLS:C0393725 Unspecified -Orphanet:542585 Auditory neuropathy-optic atrophy syndrome oboInOwl:hasDbXref OMIM:617717 Unspecified -Orphanet:542585 Auditory neuropathy-optic atrophy syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:542585 Auditory neuropathy-optic atrophy syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:542585 Auditory neuropathy-optic atrophy syndrome skos:exactMatch OMIM:617717 Unspecified -Orphanet:166415 Audiogenic seizures oboInOwl:hasDbXref ICD10:G40.5 Unspecified -Orphanet:166415 Audiogenic seizures oboInOwl:hasDbXref UMLS:C0751791 Unspecified -Orphanet:166415 Audiogenic seizures skos:exactMatch UMLS:C0751791 Unspecified -Orphanet:166415 Audiogenic seizures skos:broadMatch ICD10:G40.5 Unspecified -Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa oboInOwl:hasDbXref OMIM:226600 Unspecified -Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa oboInOwl:hasDbXref ICD10:Q81.2 Unspecified -Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa skos:broadMatch OMIM:226600 Unspecified -Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa skos:broadMatch ICD10:Q81.2 Unspecified -Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref ICD10:Q81.2 Unspecified -Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref OMIM:226600 Unspecified -Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form skos:exactMatch OMIM:226600 Unspecified -Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form skos:broadMatch ICD10:Q81.2 Unspecified -Orphanet:583097 Congenital infiltrating lipomatosis of the face oboInOwl:hasDbXref ICD10:Q87.3 Unspecified -Orphanet:583097 Congenital infiltrating lipomatosis of the face skos:broadMatch ICD10:Q87.3 Unspecified -Orphanet:33208 Idiopathic hypersomnia oboInOwl:hasDbXref UMLS:C0751757 Unspecified -Orphanet:33208 Idiopathic hypersomnia oboInOwl:hasDbXref ICD10:F51.1 Unspecified -Orphanet:33208 Idiopathic hypersomnia skos:exactMatch ICD10:F51.1 Unspecified -Orphanet:33208 Idiopathic hypersomnia skos:exactMatch UMLS:C0751757 Unspecified -Orphanet:135 CACH syndrome oboInOwl:hasDbXref UMLS:C2931489 Unspecified -Orphanet:135 CACH syndrome oboInOwl:hasDbXref OMIM:603896 Unspecified -Orphanet:135 CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:135 CACH syndrome oboInOwl:hasDbXref OMIM:615889 Unspecified -Orphanet:135 CACH syndrome oboInOwl:hasDbXref UMLS:C1858991 Unspecified -Orphanet:135 CACH syndrome oboInOwl:hasDbXref MESH:C537420 Unspecified -Orphanet:135 CACH syndrome skos:exactMatch MESH:C537420 Unspecified -Orphanet:135 CACH syndrome skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:135 CACH syndrome skos:exactMatch UMLS:C1858991 Unspecified -Orphanet:135 CACH syndrome skos:narrowMatch OMIM:615889 Unspecified -Orphanet:135 CACH syndrome skos:exactMatch OMIM:603896 Unspecified -Orphanet:135 CACH syndrome skos:exactMatch UMLS:C2931489 Unspecified -Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref UMLS:C1834569 Unspecified -Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 Unspecified -Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref OMIM:159950 Unspecified -Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch UMLS:C1834569 Unspecified -Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch OMIM:159950 Unspecified -Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:broadMatch ICD10:G25.3 Unspecified -Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type oboInOwl:hasDbXref ICD10:E83.4 Unspecified -Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type skos:broadMatch ICD10:E83.4 Unspecified -Orphanet:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C1851573 Unspecified -Orphanet:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 Unspecified -Orphanet:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref MESH:C536979 Unspecified -Orphanet:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131705 Unspecified -Orphanet:79411 Self-improving dystrophic epidermolysis bullosa skos:broadMatch ICD10:Q81.2 Unspecified -Orphanet:79411 Self-improving dystrophic epidermolysis bullosa skos:exactMatch OMIM:131705 Unspecified -Orphanet:79411 Self-improving dystrophic epidermolysis bullosa skos:exactMatch MESH:C536979 Unspecified -Orphanet:79411 Self-improving dystrophic epidermolysis bullosa skos:exactMatch UMLS:C1851573 Unspecified -Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref UMLS:C0432284 Unspecified -Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref OMIM:228550 Unspecified -Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref ICD10:D48.1 Unspecified -Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref OMIM:615293 Unspecified -Orphanet:2591 Infantile myofibromatosis skos:exactMatch OMIM:228550 Unspecified -Orphanet:2591 Infantile myofibromatosis skos:narrowMatch OMIM:615293 Unspecified -Orphanet:2591 Infantile myofibromatosis skos:exactMatch UMLS:C0432284 Unspecified -Orphanet:2591 Infantile myofibromatosis skos:broadMatch ICD10:D48.1 Unspecified -Orphanet:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref OMIM:203750 Unspecified -Orphanet:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref UMLS:C1536500 Unspecified -Orphanet:134 Beta-ketothiolase deficiency skos:exactMatch UMLS:C1536500 Unspecified -Orphanet:134 Beta-ketothiolase deficiency skos:exactMatch OMIM:203750 Unspecified -Orphanet:134 Beta-ketothiolase deficiency skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref ICD10:D23.4 Unspecified -Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref OMIM:162900 Unspecified -Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref UMLS:C0343114 Unspecified -Orphanet:79414 Woolly hair nevus skos:broadMatch OMIM:162900 Unspecified -Orphanet:79414 Woolly hair nevus skos:broadMatch ICD10:D23.4 Unspecified -Orphanet:79414 Woolly hair nevus skos:exactMatch UMLS:C0343114 Unspecified -Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref OMIM:606762 Unspecified -Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome skos:exactMatch OMIM:606762 Unspecified -Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:610125 Unspecified -Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:608970 Unspecified -Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:169150 Unspecified -Orphanet:99001 Butterfly-shaped pigment dystrophy skos:broadMatch OMIM:610125 Unspecified -Orphanet:99001 Butterfly-shaped pigment dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:99001 Butterfly-shaped pigment dystrophy skos:narrowMatch OMIM:169150 Unspecified -Orphanet:99001 Butterfly-shaped pigment dystrophy skos:narrowMatch OMIM:608970 Unspecified -Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref UMLS:C0410207 Unspecified -Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref OMIM:160565 Unspecified -Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref OMIM:615883 Unspecified -Orphanet:2593 Tubular aggregate myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:2593 Tubular aggregate myopathy skos:exactMatch OMIM:160565 Unspecified -Orphanet:2593 Tubular aggregate myopathy skos:narrowMatch OMIM:615883 Unspecified -Orphanet:2593 Tubular aggregate myopathy skos:exactMatch UMLS:C0410207 Unspecified -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MedDRA:10065551 Unspecified -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref OMIM:125310 Unspecified -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 Unspecified -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MESH:D046589 Unspecified -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref UMLS:C0751587 Unspecified -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy skos:exactMatch MESH:D046589 Unspecified -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy skos:exactMatch UMLS:C0751587 Unspecified -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy skos:broadMatch ICD10:I67.8 Unspecified -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy skos:exactMatch MedDRA:10065551 Unspecified -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy skos:exactMatch OMIM:125310 Unspecified -Orphanet:199329 Congenital myopathy, Paradas type oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:199329 Congenital myopathy, Paradas type skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:608161 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:616151 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:153840 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:616152 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref UMLS:C1842914 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy skos:exactMatch OMIM:608161 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy skos:narrowMatch OMIM:616152 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy skos:narrowMatch OMIM:153840 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy skos:narrowMatch OMIM:616151 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy skos:exactMatch UMLS:C1842914 Unspecified -Orphanet:139 CHILD syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:139 CHILD syndrome oboInOwl:hasDbXref OMIM:308050 Unspecified -Orphanet:139 CHILD syndrome oboInOwl:hasDbXref UMLS:C0265267 Unspecified -Orphanet:139 CHILD syndrome skos:exactMatch OMIM:308050 Unspecified -Orphanet:139 CHILD syndrome skos:exactMatch UMLS:C0265267 Unspecified -Orphanet:139 CHILD syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref OMIM:613561 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref UMLS:C1838103 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref OMIM:600462 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref MESH:C536101 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref OMIM:500011 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia skos:narrowMatch OMIM:613561 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia skos:exactMatch UMLS:C1838103 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia skos:exactMatch OMIM:600462 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia skos:exactMatch MESH:C536101 Unspecified -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia skos:narrowMatch OMIM:500011 Unspecified -Orphanet:166421 Orgasm-induced seizures oboInOwl:hasDbXref ICD10:G40.5 Unspecified -Orphanet:166421 Orgasm-induced seizures skos:broadMatch ICD10:G40.5 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612161 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612587 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:618734 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:610213 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:611892 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:608542 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612162 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612586 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref ICD10:I67.1 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:300870 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:105800 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:609122 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:614252 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:608542 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:exactMatch OMIM:105800 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612587 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612161 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:611892 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:618734 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:610213 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:300870 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:614252 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:609122 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612586 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612162 Unspecified -Orphanet:231160 Familial cerebral saccular aneurysm skos:broadMatch ICD10:I67.1 Unspecified -Orphanet:166424 Thinking seizures oboInOwl:hasDbXref ICD10:G40.5 Unspecified -Orphanet:166424 Thinking seizures skos:broadMatch ICD10:G40.5 Unspecified -Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref MESH:C536573 Unspecified -Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref OMIM:112310 Unspecified -Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref UMLS:C0432201 Unspecified -Orphanet:1263 Boomerang dysplasia skos:exactMatch OMIM:112310 Unspecified -Orphanet:1263 Boomerang dysplasia skos:exactMatch UMLS:C0432201 Unspecified -Orphanet:1263 Boomerang dysplasia skos:broadMatch ICD10:Q87.1 Unspecified -Orphanet:1263 Boomerang dysplasia skos:exactMatch MESH:C536573 Unspecified -Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref UMLS:C0019154 Unspecified -Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref MESH:D006502 Unspecified -Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref OMIM:600880 Unspecified -Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref ICD10:I82.0 Unspecified -Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref UMLS:C0856761 Unspecified -Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref MedDRA:10006537 Unspecified -Orphanet:131 Budd-Chiari syndrome skos:exactMatch UMLS:C0856761 Unspecified -Orphanet:131 Budd-Chiari syndrome skos:exactMatch MedDRA:10006537 Unspecified -Orphanet:131 Budd-Chiari syndrome skos:exactMatch UMLS:C0019154 Unspecified -Orphanet:131 Budd-Chiari syndrome skos:exactMatch MESH:D006502 Unspecified -Orphanet:131 Budd-Chiari syndrome skos:exactMatch OMIM:600880 Unspecified -Orphanet:131 Budd-Chiari syndrome skos:exactMatch ICD10:I82.0 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref UMLS:C1142166 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref MESH:D053840 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:613119 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:613120 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:611876 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref ICD10:I49.8 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:611777 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref MedDRA:10059027 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:601144 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:613123 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:611875 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref UMLS:C1955837 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:612838 Unspecified -Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:616399 Unspecified -Orphanet:130 Brugada syndrome skos:narrowMatch OMIM:616399 Unspecified -Orphanet:130 Brugada syndrome skos:exactMatch UMLS:C1955837 Unspecified -Orphanet:130 Brugada syndrome skos:exactMatch OMIM:601144 Unspecified -Orphanet:130 Brugada syndrome skos:narrowMatch OMIM:613123 Unspecified -Orphanet:130 Brugada syndrome skos:narrowMatch OMIM:611875 Unspecified -Orphanet:130 Brugada syndrome skos:narrowMatch OMIM:612838 Unspecified -Orphanet:130 Brugada syndrome skos:exactMatch MedDRA:10059027 Unspecified -Orphanet:130 Brugada syndrome skos:narrowMatch OMIM:611777 Unspecified -Orphanet:130 Brugada syndrome skos:exactMatch ICD10:I49.8 Unspecified -Orphanet:130 Brugada syndrome skos:exactMatch MESH:D053840 Unspecified -Orphanet:130 Brugada syndrome skos:exactMatch UMLS:C1142166 Unspecified -Orphanet:130 Brugada syndrome skos:narrowMatch OMIM:613119 Unspecified -Orphanet:130 Brugada syndrome skos:narrowMatch OMIM:613120 Unspecified -Orphanet:130 Brugada syndrome skos:narrowMatch OMIM:611876 Unspecified -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref OMIM:179840 Unspecified -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref OMIM:267800 Unspecified -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref OMIM:617175 Unspecified -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref UMLS:C1867332 Unspecified -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium skos:exactMatch UMLS:C1867332 Unspecified -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium skos:narrowMatch OMIM:179840 Unspecified -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium skos:narrowMatch OMIM:617175 Unspecified -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium skos:narrowMatch OMIM:267800 Unspecified -Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref UMLS:C0005138 Unspecified -Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref MedDRA:10004485 Unspecified -Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref MESH:D001607 Unspecified -Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref ICD10:J63.2 Unspecified -Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref UMLS:C0221052 Unspecified -Orphanet:133 Chronic beryllium disease skos:exactMatch UMLS:C0221052 Unspecified -Orphanet:133 Chronic beryllium disease skos:exactMatch ICD10:J63.2 Unspecified -Orphanet:133 Chronic beryllium disease skos:exactMatch MESH:D001607 Unspecified -Orphanet:133 Chronic beryllium disease skos:exactMatch UMLS:C0005138 Unspecified -Orphanet:133 Chronic beryllium disease skos:exactMatch MedDRA:10004485 Unspecified -Orphanet:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref UMLS:C1839028 Unspecified -Orphanet:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref OMIM:500002 Unspecified -Orphanet:2596 Myopathy and diabetes mellitus skos:exactMatch OMIM:500002 Unspecified -Orphanet:2596 Myopathy and diabetes mellitus skos:exactMatch UMLS:C1839028 Unspecified -Orphanet:2596 Myopathy and diabetes mellitus skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref OMIM:251950 Unspecified -Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref MESH:C537476 Unspecified -Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref UMLS:C1855033 Unspecified -Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome skos:broadMatch OMIM:251950 Unspecified -Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch UMLS:C1855033 Unspecified -Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch MESH:C537476 Unspecified -Orphanet:132 Butyrylcholinesterase deficiency oboInOwl:hasDbXref UMLS:C1283400 Unspecified -Orphanet:132 Butyrylcholinesterase deficiency oboInOwl:hasDbXref OMIM:617936 Unspecified -Orphanet:132 Butyrylcholinesterase deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:132 Butyrylcholinesterase deficiency oboInOwl:hasDbXref MESH:C537417 Unspecified -Orphanet:132 Butyrylcholinesterase deficiency skos:exactMatch MESH:C537417 Unspecified -Orphanet:132 Butyrylcholinesterase deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:132 Butyrylcholinesterase deficiency skos:exactMatch UMLS:C1283400 Unspecified -Orphanet:132 Butyrylcholinesterase deficiency skos:exactMatch OMIM:617936 Unspecified -Orphanet:1267 Botulism oboInOwl:hasDbXref MedDRA:10006041 Unspecified -Orphanet:1267 Botulism oboInOwl:hasDbXref MESH:D001906 Unspecified -Orphanet:1267 Botulism oboInOwl:hasDbXref ICD10:A05.1 Unspecified -Orphanet:1267 Botulism oboInOwl:hasDbXref UMLS:C0006057 Unspecified -Orphanet:1267 Botulism skos:exactMatch UMLS:C0006057 Unspecified -Orphanet:1267 Botulism skos:exactMatch ICD10:A05.1 Unspecified -Orphanet:1267 Botulism skos:exactMatch MedDRA:10006041 Unspecified -Orphanet:1267 Botulism skos:exactMatch MESH:D001906 Unspecified -Orphanet:99004 Fundus pulverulentus oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:99004 Fundus pulverulentus skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref OMIM:275200 Unspecified -Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref ICD10:E03.1 Unspecified -Orphanet:90673 Hypothyroidism due to TSH receptor mutations skos:broadMatch ICD10:E03.1 Unspecified -Orphanet:90673 Hypothyroidism due to TSH receptor mutations skos:exactMatch OMIM:275200 Unspecified -Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref ICD10:D69.8 Unspecified -Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref OMIM:614009 Unspecified -Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency skos:broadMatch ICD10:D69.8 Unspecified -Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency skos:exactMatch OMIM:614009 Unspecified -Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 Unspecified -Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref OMIM:275100 Unspecified -Orphanet:90674 Isolated thyroid-stimulating hormone deficiency skos:exactMatch OMIM:275100 Unspecified -Orphanet:90674 Isolated thyroid-stimulating hormone deficiency skos:broadMatch ICD10:E03.1 Unspecified -Orphanet:166427 Startle epilepsy oboInOwl:hasDbXref ICD10:G40.5 Unspecified -Orphanet:166427 Startle epilepsy skos:broadMatch ICD10:G40.5 Unspecified -Orphanet:289347 Infective dermatitis associated with HTLV-1 oboInOwl:hasDbXref ICD10:L30.3 Unspecified -Orphanet:289347 Infective dermatitis associated with HTLV-1 skos:broadMatch ICD10:L30.3 Unspecified -Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref UMLS:C0014236 Unspecified -Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref MESH:D009877 Unspecified -Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref MedDRA:10014801 Unspecified -Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 Unspecified -Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 Unspecified -Orphanet:199323 Endophthalmitis skos:narrowMatch ICD10:H44.1 Unspecified -Orphanet:199323 Endophthalmitis skos:exactMatch MESH:D009877 Unspecified -Orphanet:199323 Endophthalmitis skos:exactMatch UMLS:C0014236 Unspecified -Orphanet:199323 Endophthalmitis skos:narrowMatch ICD10:H44.0 Unspecified -Orphanet:199323 Endophthalmitis skos:exactMatch MedDRA:10014801 Unspecified -Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref OMIM:606768 Unspecified -Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref UMLS:C1847532 Unspecified -Orphanet:178400 Distal myopathy with anterior tibial onset skos:exactMatch UMLS:C1847532 Unspecified -Orphanet:178400 Distal myopathy with anterior tibial onset skos:exactMatch OMIM:606768 Unspecified -Orphanet:178400 Distal myopathy with anterior tibial onset skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref OMIM:153600 Unspecified -Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref MedDRA:10047801 Unspecified -Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref OMIM:610430 Unspecified -Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref MESH:D008258 Unspecified -Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref UMLS:C0024419 Unspecified -Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref ICD10:C88.0 Unspecified -Orphanet:33226 Waldenström macroglobulinemia skos:exactMatch MESH:D008258 Unspecified -Orphanet:33226 Waldenström macroglobulinemia skos:exactMatch UMLS:C0024419 Unspecified -Orphanet:33226 Waldenström macroglobulinemia skos:exactMatch ICD10:C88.0 Unspecified -Orphanet:33226 Waldenström macroglobulinemia skos:exactMatch MedDRA:10047801 Unspecified -Orphanet:33226 Waldenström macroglobulinemia skos:exactMatch OMIM:153600 Unspecified -Orphanet:33226 Waldenström macroglobulinemia skos:narrowMatch OMIM:610430 Unspecified -Orphanet:35889 Acute opioid poisoning oboInOwl:hasDbXref ICD10:T40.1 Unspecified -Orphanet:35889 Acute opioid poisoning oboInOwl:hasDbXref ICD10:T40.0 Unspecified -Orphanet:35889 Acute opioid poisoning oboInOwl:hasDbXref ICD10:T40.2 Unspecified -Orphanet:35889 Acute opioid poisoning skos:narrowMatch ICD10:T40.1 Unspecified -Orphanet:35889 Acute opioid poisoning skos:narrowMatch ICD10:T40.0 Unspecified -Orphanet:35889 Acute opioid poisoning skos:narrowMatch ICD10:T40.2 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615413 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:270960 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615842 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:618115 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:617707 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619202 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:618086 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619108 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref ICD10:N46 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615841 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:618110 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:305700 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615081 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:108420 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:613957 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:617706 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:617960 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:616950 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:258150 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:309120 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:619202 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:617707 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615842 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:618115 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:270960 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615413 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:613957 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615081 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:108420 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:309120 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:616950 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:258150 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:617706 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:618086 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:617960 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:broadMatch ICD10:N46 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615841 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:305700 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:619108 Unspecified -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:618110 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619144 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619177 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:102530 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619258 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619094 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:243060 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619102 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref ICD10:N46 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:613958 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619145 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:301059 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619095 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619044 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615413 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619258 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:102530 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619177 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619144 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619102 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:243060 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619094 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619044 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:broadMatch ICD10:N46 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:301059 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:613958 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:615413 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619145 Unspecified -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619095 Unspecified -Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref UMLS:C1866423 Unspecified -Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref MESH:C536260 Unspecified -Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref ICD10:D69.1 Unspecified -Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref OMIM:601709 Unspecified -Orphanet:220436 Quebec platelet disorder skos:exactMatch OMIM:601709 Unspecified -Orphanet:220436 Quebec platelet disorder skos:broadMatch ICD10:D69.1 Unspecified -Orphanet:220436 Quebec platelet disorder skos:exactMatch UMLS:C1866423 Unspecified -Orphanet:220436 Quebec platelet disorder skos:exactMatch MESH:C536260 Unspecified -Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref ICD10:H35.8 Unspecified -Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref UMLS:C0730307 Unspecified -Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref UMLS:C1321315 Unspecified -Orphanet:71505 Cancer-associated retinopathy skos:exactMatch UMLS:C0730307 Unspecified -Orphanet:71505 Cancer-associated retinopathy skos:broadMatch ICD10:H35.8 Unspecified -Orphanet:71505 Cancer-associated retinopathy skos:exactMatch UMLS:C1321315 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:613566 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:142470 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D56.4 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:305435 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:142335 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:141749 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:305435 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:141749 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:142335 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:exactMatch ICD10:D56.4 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:142470 Unspecified -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:613566 Unspecified -Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 Unspecified -Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref OMIM:270150 Unspecified -Orphanet:289390 Primary Sjögren syndrome skos:exactMatch ICD10:M35.0 Unspecified -Orphanet:289390 Primary Sjögren syndrome skos:exactMatch OMIM:270150 Unspecified -Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref OMIM:609820 Unspecified -Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref ICD10:D75.1 Unspecified -Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref OMIM:611783 Unspecified -Orphanet:247511 Autosomal dominant secondary polycythemia skos:narrowMatch OMIM:609820 Unspecified -Orphanet:247511 Autosomal dominant secondary polycythemia skos:broadMatch ICD10:D75.1 Unspecified -Orphanet:247511 Autosomal dominant secondary polycythemia skos:narrowMatch OMIM:611783 Unspecified -Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 Unspecified -Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref OMIM:616860 Unspecified -Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref UMLS:C2673914 Unspecified -Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia skos:exactMatch UMLS:C2673914 Unspecified -Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia skos:broadMatch ICD10:D64.0 Unspecified -Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia skos:exactMatch OMIM:616860 Unspecified -Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref MedDRA:10057053 Unspecified -Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref UMLS:C0263316 Unspecified -Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref UMLS:C0406647 Unspecified -Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref ICD10:L10.1 Unspecified -Orphanet:79479 Pemphigus vegetans skos:exactMatch ICD10:L10.1 Unspecified -Orphanet:79479 Pemphigus vegetans skos:exactMatch UMLS:C0406647 Unspecified -Orphanet:79479 Pemphigus vegetans skos:exactMatch UMLS:C0263316 Unspecified -Orphanet:79479 Pemphigus vegetans skos:exactMatch MedDRA:10057053 Unspecified -Orphanet:79474 Atypical Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 Unspecified -Orphanet:79474 Atypical Werner syndrome skos:broadMatch ICD10:E34.8 Unspecified -Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref OMIM:176200 Unspecified -Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref ICD10:E80.2 Unspecified -Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref UMLS:C0162532 Unspecified -Orphanet:79473 Porphyria variegata skos:exactMatch UMLS:C0162532 Unspecified -Orphanet:79473 Porphyria variegata skos:broadMatch ICD10:E80.2 Unspecified -Orphanet:79473 Porphyria variegata skos:exactMatch OMIM:176200 Unspecified -Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref UMLS:C1864902 Unspecified -Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref OMIM:610021 Unspecified -Orphanet:165991 Exercise-induced hyperinsulinism skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:165991 Exercise-induced hyperinsulinism skos:exactMatch OMIM:610021 Unspecified -Orphanet:165991 Exercise-induced hyperinsulinism skos:exactMatch UMLS:C1864902 Unspecified -Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 Unspecified -Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref OMIM:215700 Unspecified -Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref MedDRA:10058298 Unspecified -Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref UMLS:C0751751 Unspecified -Orphanet:247525 Citrullinemia type I skos:exactMatch UMLS:C0751751 Unspecified -Orphanet:247525 Citrullinemia type I skos:exactMatch MedDRA:10058298 Unspecified -Orphanet:247525 Citrullinemia type I skos:broadMatch ICD10:E72.2 Unspecified -Orphanet:247525 Citrullinemia type I skos:exactMatch OMIM:215700 Unspecified -Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C1868681 Unspecified -Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref OMIM:128235 Unspecified -Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:71517 Rapid-onset dystonia-parkinsonism skos:exactMatch OMIM:128235 Unspecified -Orphanet:71517 Rapid-onset dystonia-parkinsonism skos:exactMatch UMLS:C1868681 Unspecified -Orphanet:71517 Rapid-onset dystonia-parkinsonism skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:300455 Unspecified -Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch OMIM:300455 Unspecified -Orphanet:542592 Necrobiosis lipoidica oboInOwl:hasDbXref ICD10:L92.1 Unspecified -Orphanet:542592 Necrobiosis lipoidica skos:exactMatch ICD10:L92.1 Unspecified -Orphanet:71518 Benign paroxysmal torticollis of infancy oboInOwl:hasDbXref ICD10:G24.3 Unspecified -Orphanet:71518 Benign paroxysmal torticollis of infancy skos:broadMatch ICD10:G24.3 Unspecified -Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033835 Unspecified -Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612463 Unspecified -Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011556 Unspecified -Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref ICD10:E20.1 Unspecified -Orphanet:79445 Pseudopseudohypoparathyroidism skos:broadMatch ICD10:E20.1 Unspecified -Orphanet:79445 Pseudopseudohypoparathyroidism skos:exactMatch MESH:D011556 Unspecified -Orphanet:79445 Pseudopseudohypoparathyroidism skos:exactMatch UMLS:C0033835 Unspecified -Orphanet:79445 Pseudopseudohypoparathyroidism skos:exactMatch OMIM:612463 Unspecified -Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref ICD10:G23.3 Unspecified -Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref UMLS:C0393571 Unspecified -Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref OMIM:146500 Unspecified -Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref MedDRA:10064060 Unspecified -Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref ICD10:G23.2 Unspecified -Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref MESH:D019578 Unspecified -Orphanet:102 Multiple system atrophy skos:exactMatch MESH:D019578 Unspecified -Orphanet:102 Multiple system atrophy skos:narrowMatch ICD10:G23.3 Unspecified -Orphanet:102 Multiple system atrophy skos:exactMatch UMLS:C0393571 Unspecified -Orphanet:102 Multiple system atrophy skos:exactMatch OMIM:146500 Unspecified -Orphanet:102 Multiple system atrophy skos:exactMatch MedDRA:10064060 Unspecified -Orphanet:102 Multiple system atrophy skos:narrowMatch ICD10:G23.2 Unspecified -Orphanet:498700 Limbic encephalitis with neurexin-3 antibodies oboInOwl:hasDbXref ICD10:G04.8 Unspecified -Orphanet:498700 Limbic encephalitis with neurexin-3 antibodies skos:broadMatch ICD10:G04.8 Unspecified -Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref UMLS:C0751781 Unspecified -Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref OMIM:125370 Unspecified -Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:101 Dentatorubral pallidoluysian atrophy skos:exactMatch UMLS:C0751781 Unspecified -Orphanet:101 Dentatorubral pallidoluysian atrophy skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:101 Dentatorubral pallidoluysian atrophy skos:exactMatch OMIM:125370 Unspecified -Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref MESH:C548076 Unspecified -Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref UMLS:C2932716 Unspecified -Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref OMIM:612462 Unspecified -Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref ICD10:E20.1 Unspecified -Orphanet:79444 Pseudohypoparathyroidism type 1C skos:exactMatch OMIM:612462 Unspecified -Orphanet:79444 Pseudohypoparathyroidism type 1C skos:broadMatch ICD10:E20.1 Unspecified -Orphanet:79444 Pseudohypoparathyroidism type 1C skos:exactMatch UMLS:C2932716 Unspecified -Orphanet:79444 Pseudohypoparathyroidism type 1C skos:exactMatch MESH:C548076 Unspecified -Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:308905 Unspecified -Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref UMLS:C0917796 Unspecified -Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:535000 Unspecified -Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref ICD10:H47.2 Unspecified -Orphanet:104 Leber hereditary optic neuropathy skos:narrowMatch OMIM:308905 Unspecified -Orphanet:104 Leber hereditary optic neuropathy skos:broadMatch ICD10:H47.2 Unspecified -Orphanet:104 Leber hereditary optic neuropathy skos:exactMatch UMLS:C0917796 Unspecified -Orphanet:104 Leber hereditary optic neuropathy skos:exactMatch OMIM:535000 Unspecified -Orphanet:108 Babesiosis oboInOwl:hasDbXref MedDRA:10003965 Unspecified -Orphanet:108 Babesiosis oboInOwl:hasDbXref ICD10:B60.0 Unspecified -Orphanet:108 Babesiosis oboInOwl:hasDbXref MESH:D001404 Unspecified -Orphanet:108 Babesiosis oboInOwl:hasDbXref UMLS:C0004576 Unspecified -Orphanet:108 Babesiosis skos:exactMatch MESH:D001404 Unspecified -Orphanet:108 Babesiosis skos:exactMatch UMLS:C0004576 Unspecified -Orphanet:108 Babesiosis skos:exactMatch MedDRA:10003965 Unspecified -Orphanet:108 Babesiosis skos:exactMatch ICD10:B60.0 Unspecified -Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref UMLS:C0266490 Unspecified -Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref ICD10:Q30.8 Unspecified -Orphanet:141112 Nasal glial heterotopia skos:exactMatch UMLS:C0266490 Unspecified -Orphanet:141112 Nasal glial heterotopia skos:broadMatch ICD10:Q30.8 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:616648 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:165199 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:125250 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref UMLS:C1832466 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref MESH:C535351 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref ICD10:H47.2 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome skos:exactMatch UMLS:C1832466 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome skos:exactMatch MESH:C535351 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome skos:broadMatch ICD10:H47.2 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome skos:narrowMatch OMIM:125250 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome skos:narrowMatch OMIM:165199 Unspecified -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome skos:narrowMatch OMIM:616648 Unspecified -Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref UMLS:C0015458 Unspecified -Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref OMIM:141300 Unspecified -Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref ICD10:G51.8 Unspecified -Orphanet:1214 Progressive hemifacial atrophy skos:exactMatch UMLS:C0015458 Unspecified -Orphanet:1214 Progressive hemifacial atrophy skos:broadMatch ICD10:G51.8 Unspecified -Orphanet:1214 Progressive hemifacial atrophy skos:exactMatch OMIM:141300 Unspecified -Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation oboInOwl:hasDbXref ICD10:K76.8 Unspecified -Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation skos:broadMatch ICD10:K76.8 Unspecified -Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref ICD10:G11.3 Unspecified -Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref UMLS:C0004135 Unspecified -Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref OMIM:208900 Unspecified -Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref MedDRA:10003594 Unspecified -Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref OMIM:208910 Unspecified -Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref MESH:D001260 Unspecified -Orphanet:100 Ataxia-telangiectasia skos:exactMatch MESH:D001260 Unspecified -Orphanet:100 Ataxia-telangiectasia skos:exactMatch OMIM:208900 Unspecified -Orphanet:100 Ataxia-telangiectasia skos:exactMatch UMLS:C0004135 Unspecified -Orphanet:100 Ataxia-telangiectasia skos:exactMatch MedDRA:10003594 Unspecified -Orphanet:100 Ataxia-telangiectasia skos:narrowMatch OMIM:208910 Unspecified -Orphanet:100 Ataxia-telangiectasia skos:broadMatch ICD10:G11.3 Unspecified -Orphanet:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref UMLS:C3494506 Unspecified -Orphanet:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref OMIM:103580 Unspecified -Orphanet:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref ICD10:E20.1 Unspecified -Orphanet:79443 Pseudohypoparathyroidism type 1A skos:exactMatch UMLS:C3494506 Unspecified -Orphanet:79443 Pseudohypoparathyroidism type 1A skos:broadMatch ICD10:E20.1 Unspecified -Orphanet:79443 Pseudohypoparathyroidism type 1A skos:exactMatch OMIM:103580 Unspecified -Orphanet:485426 Isolated congenital hepatic fibrosis oboInOwl:hasDbXref ICD10:Q44.6 Unspecified -Orphanet:485426 Isolated congenital hepatic fibrosis skos:broadMatch ICD10:Q44.6 Unspecified -Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome oboInOwl:hasDbXref UMLS:C2930956 Unspecified -Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:exactMatch UMLS:C2930956 Unspecified -Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 Unspecified -Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy oboInOwl:hasDbXref OMIM:600175 Unspecified -Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy skos:exactMatch OMIM:600175 Unspecified -Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy skos:broadMatch ICD10:G12.1 Unspecified -Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref OMIM:611705 Unspecified -Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref UMLS:C2673677 Unspecified -Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy skos:exactMatch OMIM:611705 Unspecified -Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy skos:exactMatch UMLS:C2673677 Unspecified -Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C0024901 Unspecified -Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 Unspecified -Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref MedDRA:10012812 Unspecified -Orphanet:79456 Diffuse cutaneous mastocytosis skos:exactMatch UMLS:C0024901 Unspecified -Orphanet:79456 Diffuse cutaneous mastocytosis skos:exactMatch MedDRA:10012812 Unspecified -Orphanet:79456 Diffuse cutaneous mastocytosis skos:broadMatch ICD10:Q82.2 Unspecified -Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref MESH:D054705 Unspecified -Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref ICD10:Q82.2 Unspecified -Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref UMLS:C0343115 Unspecified -Orphanet:79455 Cutaneous mastocytoma skos:exactMatch UMLS:C0343115 Unspecified -Orphanet:79455 Cutaneous mastocytoma skos:broadMatch ICD10:Q82.2 Unspecified -Orphanet:79455 Cutaneous mastocytoma skos:exactMatch MESH:D054705 Unspecified -Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C0042111 Unspecified -Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref MESH:D014582 Unspecified -Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref OMIM:154800 Unspecified -Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 Unspecified -Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref MedDRA:10046752 Unspecified -Orphanet:79457 Maculopapular cutaneous mastocytosis skos:broadMatch OMIM:154800 Unspecified -Orphanet:79457 Maculopapular cutaneous mastocytosis skos:exactMatch MedDRA:10046752 Unspecified -Orphanet:79457 Maculopapular cutaneous mastocytosis skos:broadMatch ICD10:Q82.2 Unspecified -Orphanet:79457 Maculopapular cutaneous mastocytosis skos:exactMatch MESH:D014582 Unspecified -Orphanet:79457 Maculopapular cutaneous mastocytosis skos:exactMatch UMLS:C0042111 Unspecified -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref OMIM:300257 Unspecified -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref UMLS:C0878677 Unspecified -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency skos:exactMatch OMIM:300257 Unspecified -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency skos:exactMatch UMLS:C0878677 Unspecified -Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref MESH:C535921 Unspecified -Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref ICD10:K13.0 Unspecified -Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref UMLS:C0267034 Unspecified -Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref OMIM:118330 Unspecified -Orphanet:1221 Cheilitis glandularis skos:broadMatch ICD10:K13.0 Unspecified -Orphanet:1221 Cheilitis glandularis skos:exactMatch MESH:C535921 Unspecified -Orphanet:1221 Cheilitis glandularis skos:exactMatch UMLS:C0267034 Unspecified -Orphanet:1221 Cheilitis glandularis skos:exactMatch OMIM:118330 Unspecified -Orphanet:485418 EMILIN-1-related connective tissue disease oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:485418 EMILIN-1-related connective tissue disease skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy oboInOwl:hasDbXref OMIM:616538 Unspecified -Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:broadMatch OMIM:616538 Unspecified -Orphanet:79452 Milroy disease oboInOwl:hasDbXref OMIM:247440 Unspecified -Orphanet:79452 Milroy disease oboInOwl:hasDbXref OMIM:611944 Unspecified -Orphanet:79452 Milroy disease oboInOwl:hasDbXref UMLS:C1704423 Unspecified -Orphanet:79452 Milroy disease oboInOwl:hasDbXref OMIM:153100 Unspecified -Orphanet:79452 Milroy disease oboInOwl:hasDbXref ICD10:Q82.0 Unspecified -Orphanet:79452 Milroy disease oboInOwl:hasDbXref OMIM:615907 Unspecified -Orphanet:79452 Milroy disease oboInOwl:hasDbXref OMIM:613480 Unspecified -Orphanet:79452 Milroy disease skos:narrowMatch OMIM:611944 Unspecified -Orphanet:79452 Milroy disease skos:narrowMatch OMIM:247440 Unspecified -Orphanet:79452 Milroy disease skos:narrowMatch OMIM:615907 Unspecified -Orphanet:79452 Milroy disease skos:broadMatch ICD10:Q82.0 Unspecified -Orphanet:79452 Milroy disease skos:exactMatch UMLS:C1704423 Unspecified -Orphanet:79452 Milroy disease skos:narrowMatch OMIM:613480 Unspecified -Orphanet:79452 Milroy disease skos:narrowMatch OMIM:153100 Unspecified -Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref ICD10:B60.8 Unspecified -Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref MESH:D016881 Unspecified -Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref MedDRA:10053982 Unspecified -Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref UMLS:C0085407 Unspecified -Orphanet:2552 Microsporidiosis skos:exactMatch UMLS:C0085407 Unspecified -Orphanet:2552 Microsporidiosis skos:broadMatch ICD10:B60.8 Unspecified -Orphanet:2552 Microsporidiosis skos:exactMatch MedDRA:10053982 Unspecified -Orphanet:2552 Microsporidiosis skos:exactMatch MESH:D016881 Unspecified -Orphanet:1223 Balantidiasis oboInOwl:hasDbXref UMLS:C0276786 Unspecified -Orphanet:1223 Balantidiasis oboInOwl:hasDbXref MedDRA:10004080 Unspecified -Orphanet:1223 Balantidiasis oboInOwl:hasDbXref MESH:C531629 Unspecified -Orphanet:1223 Balantidiasis oboInOwl:hasDbXref ICD10:A07.0 Unspecified -Orphanet:1223 Balantidiasis oboInOwl:hasDbXref UMLS:C0004692 Unspecified -Orphanet:1223 Balantidiasis oboInOwl:hasDbXref MESH:D001447 Unspecified -Orphanet:1223 Balantidiasis skos:exactMatch ICD10:A07.0 Unspecified -Orphanet:1223 Balantidiasis skos:exactMatch MESH:D001447 Unspecified -Orphanet:1223 Balantidiasis skos:exactMatch UMLS:C0004692 Unspecified -Orphanet:1223 Balantidiasis skos:exactMatch MESH:C531629 Unspecified -Orphanet:1223 Balantidiasis skos:exactMatch MedDRA:10004080 Unspecified -Orphanet:1223 Balantidiasis skos:exactMatch UMLS:C0276786 Unspecified -Orphanet:289380 Myosclerosis oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:289380 Myosclerosis oboInOwl:hasDbXref OMIM:255600 Unspecified -Orphanet:289380 Myosclerosis oboInOwl:hasDbXref UMLS:C1611706 Unspecified -Orphanet:289380 Myosclerosis oboInOwl:hasDbXref MedDRA:10064584 Unspecified -Orphanet:289380 Myosclerosis skos:exactMatch MedDRA:10064584 Unspecified -Orphanet:289380 Myosclerosis skos:exactMatch UMLS:C1611706 Unspecified -Orphanet:289380 Myosclerosis skos:exactMatch OMIM:255600 Unspecified -Orphanet:289380 Myosclerosis skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref UMLS:C1719788 Unspecified -Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref OMIM:160120 Unspecified -Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:37612 Episodic ataxia type 1 skos:exactMatch OMIM:160120 Unspecified -Orphanet:37612 Episodic ataxia type 1 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:37612 Episodic ataxia type 1 skos:exactMatch UMLS:C1719788 Unspecified -Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 Unspecified -Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas skos:broadMatch ICD10:C25.9 Unspecified -Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref UMLS:C0878578 Unspecified -Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref MESH:C536418 Unspecified -Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref ICD10:G25.2 Unspecified -Orphanet:238606 Primary orthostatic tremor skos:broadMatch ICD10:G25.2 Unspecified -Orphanet:238606 Primary orthostatic tremor skos:exactMatch MESH:C536418 Unspecified -Orphanet:238606 Primary orthostatic tremor skos:exactMatch UMLS:C0878578 Unspecified -Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref MESH:C536259 Unspecified -Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref UMLS:C2931142 Unspecified -Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref OMIM:600096 Unspecified -Orphanet:3010 Qazi-Markouizos syndrome skos:exactMatch OMIM:600096 Unspecified -Orphanet:3010 Qazi-Markouizos syndrome skos:exactMatch MESH:C536259 Unspecified -Orphanet:3010 Qazi-Markouizos syndrome skos:exactMatch UMLS:C2931142 Unspecified -Orphanet:3010 Qazi-Markouizos syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures oboInOwl:hasDbXref OMIM:148700 Unspecified -Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures skos:broadMatch OMIM:148700 Unspecified -Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1849112 Unspecified -Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref OMIM:270950 Unspecified -Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch OMIM:270950 Unspecified -Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch UMLS:C1849112 Unspecified -Orphanet:314802 Short stature due to partial GHR deficiency oboInOwl:hasDbXref OMIM:604271 Unspecified -Orphanet:314802 Short stature due to partial GHR deficiency oboInOwl:hasDbXref ICD10:E34.3 Unspecified -Orphanet:314802 Short stature due to partial GHR deficiency skos:broadMatch ICD10:E34.3 Unspecified -Orphanet:314802 Short stature due to partial GHR deficiency skos:exactMatch OMIM:604271 Unspecified -Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref UMLS:C2751320 Unspecified -Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref OMIM:613076 Unspecified -Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch OMIM:613076 Unspecified -Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch UMLS:C2751320 Unspecified -Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome oboInOwl:hasDbXref OMIM:615508 Unspecified -Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome skos:exactMatch OMIM:615508 Unspecified -Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref UMLS:C1275417 Unspecified -Orphanet:141179 Non-involuting congenital hemangioma skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:141179 Non-involuting congenital hemangioma skos:exactMatch UMLS:C1275417 Unspecified -Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref UMLS:C1858266 Unspecified -Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref ICD10:D81.6 Unspecified -Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref OMIM:604571 Unspecified -Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref OMIM:241600 Unspecified -Orphanet:34592 Immunodeficiency by defective expression of MHC class I skos:narrowMatch OMIM:241600 Unspecified -Orphanet:34592 Immunodeficiency by defective expression of MHC class I skos:exactMatch OMIM:604571 Unspecified -Orphanet:34592 Immunodeficiency by defective expression of MHC class I skos:exactMatch UMLS:C1858266 Unspecified -Orphanet:34592 Immunodeficiency by defective expression of MHC class I skos:exactMatch ICD10:D81.6 Unspecified -Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref UMLS:C2673642 Unspecified -Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref OMIM:611719 Unspecified -Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia skos:exactMatch OMIM:611719 Unspecified -Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia skos:exactMatch UMLS:C2673642 Unspecified -Orphanet:293462 Pre-Descemet corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:293462 Pre-Descemet corneal dystrophy oboInOwl:hasDbXref UMLS:C0339282 Unspecified -Orphanet:293462 Pre-Descemet corneal dystrophy skos:exactMatch UMLS:C0339282 Unspecified -Orphanet:293462 Pre-Descemet corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref ICD10:L56.4 Unspecified -Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref UMLS:C0020241 Unspecified -Orphanet:330058 Hydroa vacciniforme skos:exactMatch UMLS:C0020241 Unspecified -Orphanet:330058 Hydroa vacciniforme skos:broadMatch ICD10:L56.4 Unspecified -Orphanet:171829 6q16 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 Unspecified -Orphanet:171829 6q16 microdeletion syndrome skos:broadMatch ICD10:Q93.5 Unspecified -Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement oboInOwl:hasDbXref OMIM:616647 Unspecified -Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement skos:exactMatch OMIM:616647 Unspecified -Orphanet:95512 Adenohypophysitis oboInOwl:hasDbXref ICD10:E23.6 Unspecified -Orphanet:95512 Adenohypophysitis skos:broadMatch ICD10:E23.6 Unspecified -Orphanet:95513 Panhypophysitis oboInOwl:hasDbXref ICD10:E23.6 Unspecified -Orphanet:95513 Panhypophysitis skos:broadMatch ICD10:E23.6 Unspecified -Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref OMIM:606612 Unspecified -Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref OMIM:613152 Unspecified -Orphanet:370980 Congenital muscular dystrophy without intellectual disability skos:broadMatch OMIM:606612 Unspecified -Orphanet:370980 Congenital muscular dystrophy without intellectual disability skos:narrowMatch OMIM:613152 Unspecified -Orphanet:370980 Congenital muscular dystrophy without intellectual disability skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency oboInOwl:hasDbXref ICD10:D81.1 Unspecified -Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency oboInOwl:hasDbXref OMIM:615758 Unspecified -Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency skos:exactMatch OMIM:615758 Unspecified -Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency skos:broadMatch ICD10:D81.1 Unspecified -Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:B02.2+ Unspecified -Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:G53.0* Unspecified -Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref UMLS:C0017409 Unspecified -Orphanet:3020 Ramsay Hunt syndrome skos:broadMatch ICD10:G53.0* Unspecified -Orphanet:3020 Ramsay Hunt syndrome skos:exactMatch UMLS:C0017409 Unspecified -Orphanet:3020 Ramsay Hunt syndrome skos:broadMatch ICD10:B02.2+ Unspecified -Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref UMLS:C0406217 Unspecified -Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref OMIM:174770 Unspecified -Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref ICD10:L56.4 Unspecified -Orphanet:330061 Actinic prurigo skos:exactMatch OMIM:174770 Unspecified -Orphanet:330061 Actinic prurigo skos:exactMatch UMLS:C0406217 Unspecified -Orphanet:330061 Actinic prurigo skos:broadMatch ICD10:L56.4 Unspecified -Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref OMIM:148000 Unspecified -Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref UMLS:C0036220 Unspecified -Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.7 Unspecified -Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.9 Unspecified -Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.1 Unspecified -Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.3 Unspecified -Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref MedDRA:10023284 Unspecified -Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.8 Unspecified -Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.0 Unspecified -Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.2 Unspecified -Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref MESH:D012514 Unspecified -Orphanet:33276 Kaposi sarcoma skos:exactMatch MESH:D012514 Unspecified -Orphanet:33276 Kaposi sarcoma skos:narrowMatch ICD10:C46.3 Unspecified -Orphanet:33276 Kaposi sarcoma skos:narrowMatch ICD10:C46.1 Unspecified -Orphanet:33276 Kaposi sarcoma skos:narrowMatch ICD10:C46.7 Unspecified -Orphanet:33276 Kaposi sarcoma skos:narrowMatch ICD10:C46.9 Unspecified -Orphanet:33276 Kaposi sarcoma skos:narrowMatch OMIM:148000 Unspecified -Orphanet:33276 Kaposi sarcoma skos:narrowMatch ICD10:C46.2 Unspecified -Orphanet:33276 Kaposi sarcoma skos:narrowMatch ICD10:C46.0 Unspecified -Orphanet:33276 Kaposi sarcoma skos:narrowMatch ICD10:C46.8 Unspecified -Orphanet:33276 Kaposi sarcoma skos:exactMatch MedDRA:10023284 Unspecified -Orphanet:33276 Kaposi sarcoma skos:exactMatch UMLS:C0036220 Unspecified -Orphanet:330064 Chronic actinic dermatitis oboInOwl:hasDbXref ICD10:L57.1 Unspecified -Orphanet:330064 Chronic actinic dermatitis oboInOwl:hasDbXref UMLS:C0282309 Unspecified -Orphanet:330064 Chronic actinic dermatitis oboInOwl:hasDbXref UMLS:C1510437 Unspecified -Orphanet:330064 Chronic actinic dermatitis skos:exactMatch UMLS:C1510437 Unspecified -Orphanet:330064 Chronic actinic dermatitis skos:exactMatch ICD10:L57.1 Unspecified -Orphanet:330064 Chronic actinic dermatitis skos:exactMatch UMLS:C0282309 Unspecified -Orphanet:91140 Unspecified juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 Unspecified -Orphanet:91140 Unspecified juvenile idiopathic arthritis skos:broadMatch ICD10:M08.8 Unspecified -Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref UMLS:C0268353 Unspecified -Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref ICD10:E83.0 Unspecified -Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref MESH:C537860 Unspecified -Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref OMIM:304150 Unspecified -Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref UMLS:C1096660 Unspecified -Orphanet:198 Occipital horn syndrome skos:exactMatch MESH:C537860 Unspecified -Orphanet:198 Occipital horn syndrome skos:exactMatch OMIM:304150 Unspecified -Orphanet:198 Occipital horn syndrome skos:exactMatch UMLS:C0268353 Unspecified -Orphanet:198 Occipital horn syndrome skos:exactMatch UMLS:C1096660 Unspecified -Orphanet:198 Occipital horn syndrome skos:broadMatch ICD10:E83.0 Unspecified -Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref OMIM:300696 Unspecified -Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref UMLS:C2678055 Unspecified -Orphanet:178461 X-linked myopathy with postural muscle atrophy skos:exactMatch UMLS:C2678055 Unspecified -Orphanet:178461 X-linked myopathy with postural muscle atrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:178461 X-linked myopathy with postural muscle atrophy skos:exactMatch OMIM:300696 Unspecified -Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref UMLS:C1863599 Unspecified -Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref OMIM:603689 Unspecified -Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:178464 Hereditary myopathy with early respiratory failure skos:exactMatch OMIM:603689 Unspecified -Orphanet:178464 Hereditary myopathy with early respiratory failure skos:exactMatch UMLS:C1863599 Unspecified -Orphanet:178464 Hereditary myopathy with early respiratory failure skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:608840 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:613156 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:606612 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:613155 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:615351 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:618992 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability skos:broadMatch OMIM:613155 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability skos:broadMatch OMIM:615351 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability skos:broadMatch OMIM:618992 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability skos:broadMatch OMIM:606612 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability skos:broadMatch OMIM:613156 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability skos:broadMatch OMIM:608840 Unspecified -Orphanet:370968 Congenital muscular dystrophy with intellectual disability skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref ICD10:G93.2 Unspecified -Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref UMLS:C0033845 Unspecified -Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref OMIM:243200 Unspecified -Orphanet:238624 Idiopathic intracranial hypertension skos:exactMatch OMIM:243200 Unspecified -Orphanet:238624 Idiopathic intracranial hypertension skos:exactMatch UMLS:C0033845 Unspecified -Orphanet:238624 Idiopathic intracranial hypertension skos:exactMatch ICD10:G93.2 Unspecified -Orphanet:401795 Autosomal recessive spastic paraplegia type 59 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401795 Autosomal recessive spastic paraplegia type 59 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:227972 Toxic oil syndrome oboInOwl:hasDbXref UMLS:C0409998 Unspecified -Orphanet:227972 Toxic oil syndrome oboInOwl:hasDbXref MedDRA:10051222 Unspecified -Orphanet:227972 Toxic oil syndrome skos:exactMatch MedDRA:10051222 Unspecified -Orphanet:227972 Toxic oil syndrome skos:exactMatch UMLS:C0409998 Unspecified -Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref MedDRA:10057069 Unspecified -Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref ICD10:L10.2 Unspecified -Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref UMLS:C0263313 Unspecified -Orphanet:79481 Pemphigus foliaceus skos:exactMatch UMLS:C0263313 Unspecified -Orphanet:79481 Pemphigus foliaceus skos:broadMatch ICD10:L10.2 Unspecified -Orphanet:79481 Pemphigus foliaceus skos:exactMatch MedDRA:10057069 Unspecified -Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D56.8 Unspecified -Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome skos:broadMatch ICD10:D56.8 Unspecified -Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref OMIM:615458 Unspecified -Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q15.8 Unspecified -Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome skos:broadMatch ICD10:Q15.8 Unspecified -Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome skos:exactMatch OMIM:615458 Unspecified -Orphanet:79480 Pemphigus erythematosus oboInOwl:hasDbXref ICD10:L10.4 Unspecified -Orphanet:79480 Pemphigus erythematosus oboInOwl:hasDbXref MedDRA:10058917 Unspecified -Orphanet:79480 Pemphigus erythematosus oboInOwl:hasDbXref UMLS:C0263312 Unspecified -Orphanet:79480 Pemphigus erythematosus skos:exactMatch UMLS:C0263312 Unspecified -Orphanet:79480 Pemphigus erythematosus skos:broadMatch ICD10:L10.4 Unspecified -Orphanet:79480 Pemphigus erythematosus skos:exactMatch MedDRA:10058917 Unspecified -Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type oboInOwl:hasDbXref OMIM:612989 Unspecified -Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type oboInOwl:hasDbXref ICD10:H47.2 Unspecified -Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type skos:exactMatch OMIM:612989 Unspecified -Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type skos:broadMatch ICD10:H47.2 Unspecified -Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref UMLS:C2675204 Unspecified -Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref OMIM:612674 Unspecified -Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref ICD10:G60.1 Unspecified -Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome skos:exactMatch OMIM:612674 Unspecified -Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome skos:exactMatch UMLS:C2675204 Unspecified -Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C1835851 Unspecified -Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q80.8 Unspecified -Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:602400 Unspecified -Orphanet:91132 Ichthyosis-hypotrichosis syndrome skos:exactMatch OMIM:602400 Unspecified -Orphanet:91132 Ichthyosis-hypotrichosis syndrome skos:exactMatch UMLS:C1835851 Unspecified -Orphanet:91132 Ichthyosis-hypotrichosis syndrome skos:broadMatch ICD10:Q80.8 Unspecified -Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref UMLS:C1835845 Unspecified -Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref OMIM:610773 Unspecified -Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch OMIM:610773 Unspecified -Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch UMLS:C1835845 Unspecified -Orphanet:91131 DK1-CDG oboInOwl:hasDbXref OMIM:610768 Unspecified -Orphanet:91131 DK1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:91131 DK1-CDG oboInOwl:hasDbXref UMLS:C1835849 Unspecified -Orphanet:91131 DK1-CDG skos:exactMatch OMIM:610768 Unspecified -Orphanet:91131 DK1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:91131 DK1-CDG skos:exactMatch UMLS:C1835849 Unspecified -Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome oboInOwl:hasDbXref ICD10:E72.0 Unspecified -Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome skos:broadMatch ICD10:E72.0 Unspecified -Orphanet:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref UMLS:C0334586 Unspecified -Orphanet:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251607 Pleomorphic xanthoastrocytoma skos:exactMatch UMLS:C0334586 Unspecified -Orphanet:251607 Pleomorphic xanthoastrocytoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency oboInOwl:hasDbXref ICD10:D68.4 Unspecified -Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency oboInOwl:hasDbXref OMIM:610842 Unspecified -Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency oboInOwl:hasDbXref UMLS:C1835813 Unspecified -Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch OMIM:610842 Unspecified -Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:broadMatch ICD10:D68.4 Unspecified -Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch UMLS:C1835813 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref UMLS:C0340992 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref ICD10:D89.1 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref MedDRA:10027756 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref UMLS:C1852456 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref OMIM:123550 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref UMLS:C0343208 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref UMLS:C0543697 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis skos:exactMatch UMLS:C0340992 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis skos:exactMatch MedDRA:10027756 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis skos:exactMatch UMLS:C1852456 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis skos:exactMatch UMLS:C0543697 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis skos:exactMatch OMIM:123550 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis skos:broadMatch ICD10:D89.1 Unspecified -Orphanet:91138 Cryoglobulinemic vasculitis skos:exactMatch UMLS:C0343208 Unspecified -Orphanet:91139 Simple cryoglobulinemia oboInOwl:hasDbXref ICD10:D89.1 Unspecified -Orphanet:91139 Simple cryoglobulinemia skos:broadMatch ICD10:D89.1 Unspecified -Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome oboInOwl:hasDbXref OMIM:616414 Unspecified -Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome oboInOwl:hasDbXref ICD10:J84.8 Unspecified -Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch OMIM:616414 Unspecified -Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome skos:broadMatch ICD10:J84.8 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:613156 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:606612 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:615351 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:613155 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:613151 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement skos:broadMatch OMIM:615351 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement skos:narrowMatch OMIM:613151 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement skos:broadMatch OMIM:613155 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement skos:broadMatch OMIM:606612 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement skos:broadMatch OMIM:613156 Unspecified -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:238637 Megacystis-megaureter syndrome oboInOwl:hasDbXref ICD10:Q62.7 Unspecified -Orphanet:238637 Megacystis-megaureter syndrome oboInOwl:hasDbXref UMLS:C0431752 Unspecified -Orphanet:238637 Megacystis-megaureter syndrome skos:exactMatch UMLS:C0431752 Unspecified -Orphanet:238637 Megacystis-megaureter syndrome skos:broadMatch ICD10:Q62.7 Unspecified -Orphanet:171851 MEDNIK syndrome oboInOwl:hasDbXref OMIM:609313 Unspecified -Orphanet:171851 MEDNIK syndrome oboInOwl:hasDbXref UMLS:C1836330 Unspecified -Orphanet:171851 MEDNIK syndrome skos:exactMatch UMLS:C1836330 Unspecified -Orphanet:171851 MEDNIK syndrome skos:exactMatch OMIM:609313 Unspecified -Orphanet:280133 Complement component 3 deficiency oboInOwl:hasDbXref OMIM:613779 Unspecified -Orphanet:280133 Complement component 3 deficiency oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:280133 Complement component 3 deficiency oboInOwl:hasDbXref UMLS:C3151071 Unspecified -Orphanet:280133 Complement component 3 deficiency skos:exactMatch OMIM:613779 Unspecified -Orphanet:280133 Complement component 3 deficiency skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:280133 Complement component 3 deficiency skos:exactMatch UMLS:C3151071 Unspecified -Orphanet:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref OMIM:616282 Unspecified -Orphanet:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:444099 Autosomal dominant spastic paraplegia type 73 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:444099 Autosomal dominant spastic paraplegia type 73 skos:exactMatch OMIM:616282 Unspecified -Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref ICD10:D74.0 Unspecified -Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref OMIM:617973 Unspecified -Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref OMIM:617971 Unspecified -Orphanet:330041 Hemoglobin M disease skos:narrowMatch OMIM:617973 Unspecified -Orphanet:330041 Hemoglobin M disease skos:narrowMatch OMIM:617971 Unspecified -Orphanet:330041 Hemoglobin M disease skos:broadMatch ICD10:D74.0 Unspecified -Orphanet:227982 Autoimmune polyendocrinopathy type 3 oboInOwl:hasDbXref UMLS:C1535942 Unspecified -Orphanet:227982 Autoimmune polyendocrinopathy type 3 oboInOwl:hasDbXref ICD10:E31.0 Unspecified -Orphanet:227982 Autoimmune polyendocrinopathy type 3 skos:broadMatch ICD10:E31.0 Unspecified -Orphanet:227982 Autoimmune polyendocrinopathy type 3 skos:exactMatch UMLS:C1535942 Unspecified -Orphanet:79492 Pili gemini oboInOwl:hasDbXref ICD10:L67.8 Unspecified -Orphanet:79492 Pili gemini skos:broadMatch ICD10:L67.8 Unspecified -Orphanet:314811 Short stature due to GHSR deficiency oboInOwl:hasDbXref ICD10:E34.3 Unspecified -Orphanet:314811 Short stature due to GHSR deficiency oboInOwl:hasDbXref OMIM:615925 Unspecified -Orphanet:314811 Short stature due to GHSR deficiency skos:broadMatch ICD10:E34.3 Unspecified -Orphanet:314811 Short stature due to GHSR deficiency skos:exactMatch OMIM:615925 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:605041 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref MESH:C536611 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:132700 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:601606 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:612099 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref UMLS:C1857941 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome skos:exactMatch UMLS:C1857941 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome skos:narrowMatch OMIM:612099 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome skos:exactMatch MESH:C536611 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome skos:narrowMatch OMIM:601606 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome skos:narrowMatch OMIM:132700 Unspecified -Orphanet:79493 Brooke-Spiegler syndrome skos:exactMatch OMIM:605041 Unspecified -Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref ICD10:E72.2 Unspecified -Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref OMIM:603471 Unspecified -Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref UMLS:C1863844 Unspecified -Orphanet:247585 Citrullinemia type II skos:exactMatch UMLS:C1863844 Unspecified -Orphanet:247585 Citrullinemia type II skos:broadMatch ICD10:E72.2 Unspecified -Orphanet:247585 Citrullinemia type II skos:exactMatch OMIM:603471 Unspecified -Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref ICD10:L65.1 Unspecified -Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref MESH:D058247 Unspecified -Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref UMLS:C0406468 Unspecified -Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref OMIM:600628 Unspecified -Orphanet:168 Loose anagen syndrome skos:exactMatch OMIM:600628 Unspecified -Orphanet:168 Loose anagen syndrome skos:exactMatch UMLS:C0406468 Unspecified -Orphanet:168 Loose anagen syndrome skos:broadMatch ICD10:L65.1 Unspecified -Orphanet:168 Loose anagen syndrome skos:exactMatch MESH:D058247 Unspecified -Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref UMLS:C0007965 Unspecified -Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref MESH:D002609 Unspecified -Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref MedDRA:10008415 Unspecified -Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref OMIM:214500 Unspecified -Orphanet:167 Chédiak-Higashi syndrome skos:exactMatch OMIM:214500 Unspecified -Orphanet:167 Chédiak-Higashi syndrome skos:exactMatch MedDRA:10008415 Unspecified -Orphanet:167 Chédiak-Higashi syndrome skos:exactMatch MESH:D002609 Unspecified -Orphanet:167 Chédiak-Higashi syndrome skos:exactMatch UMLS:C0007965 Unspecified -Orphanet:167 Chédiak-Higashi syndrome skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:227990 Autoimmune polyendocrinopathy type 4 oboInOwl:hasDbXref ICD10:E31.0 Unspecified -Orphanet:227990 Autoimmune polyendocrinopathy type 4 skos:broadMatch ICD10:E31.0 Unspecified -Orphanet:169 Ringed hair disease oboInOwl:hasDbXref UMLS:C0263489 Unspecified -Orphanet:169 Ringed hair disease oboInOwl:hasDbXref MESH:C537187 Unspecified -Orphanet:169 Ringed hair disease oboInOwl:hasDbXref ICD10:Q84.1 Unspecified -Orphanet:169 Ringed hair disease oboInOwl:hasDbXref OMIM:180600 Unspecified -Orphanet:169 Ringed hair disease skos:exactMatch OMIM:180600 Unspecified -Orphanet:169 Ringed hair disease skos:exactMatch MESH:C537187 Unspecified -Orphanet:169 Ringed hair disease skos:broadMatch ICD10:Q84.1 Unspecified -Orphanet:169 Ringed hair disease skos:exactMatch UMLS:C0263489 Unspecified -Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:160 Castleman disease oboInOwl:hasDbXref MESH:D005871 Unspecified -Orphanet:160 Castleman disease oboInOwl:hasDbXref UMLS:C2931179 Unspecified -Orphanet:160 Castleman disease oboInOwl:hasDbXref UMLS:C0017531 Unspecified -Orphanet:160 Castleman disease oboInOwl:hasDbXref MESH:C536362 Unspecified -Orphanet:160 Castleman disease oboInOwl:hasDbXref OMIM:148000 Unspecified -Orphanet:160 Castleman disease oboInOwl:hasDbXref MedDRA:10050251 Unspecified -Orphanet:160 Castleman disease oboInOwl:hasDbXref ICD10:D47.7 Unspecified -Orphanet:160 Castleman disease skos:exactMatch MESH:C536362 Unspecified -Orphanet:160 Castleman disease skos:exactMatch UMLS:C0017531 Unspecified -Orphanet:160 Castleman disease skos:exactMatch MedDRA:10050251 Unspecified -Orphanet:160 Castleman disease skos:exactMatch MESH:D005871 Unspecified -Orphanet:160 Castleman disease skos:narrowMatch OMIM:148000 Unspecified -Orphanet:160 Castleman disease skos:exactMatch UMLS:C2931179 Unspecified -Orphanet:160 Castleman disease skos:broadMatch ICD10:D47.7 Unspecified -Orphanet:166433 Reading seizures oboInOwl:hasDbXref ICD10:G40.5 Unspecified -Orphanet:166433 Reading seizures oboInOwl:hasDbXref OMIM:132300 Unspecified -Orphanet:166433 Reading seizures oboInOwl:hasDbXref UMLS:C0278193 Unspecified -Orphanet:166433 Reading seizures skos:broadMatch ICD10:G40.5 Unspecified -Orphanet:166433 Reading seizures skos:exactMatch UMLS:C0278193 Unspecified -Orphanet:166433 Reading seizures skos:exactMatch OMIM:132300 Unspecified -Orphanet:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref MESH:C538137 Unspecified -Orphanet:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref ICD10:H26.0 Unspecified -Orphanet:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref UMLS:C1833213 Unspecified -Orphanet:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref OMIM:600886 Unspecified -Orphanet:163 Hereditary hyperferritinemia-cataract syndrome skos:broadMatch ICD10:H26.0 Unspecified -Orphanet:163 Hereditary hyperferritinemia-cataract syndrome skos:exactMatch UMLS:C1833213 Unspecified -Orphanet:163 Hereditary hyperferritinemia-cataract syndrome skos:broadMatch OMIM:600886 Unspecified -Orphanet:163 Hereditary hyperferritinemia-cataract syndrome skos:exactMatch MESH:C538137 Unspecified -Orphanet:166430 Micturation-induced seizures oboInOwl:hasDbXref ICD10:G40.5 Unspecified -Orphanet:166430 Micturation-induced seizures skos:broadMatch ICD10:G40.5 Unspecified -Orphanet:330015 Lead poisoning oboInOwl:hasDbXref ICD10:T56.0 Unspecified -Orphanet:330015 Lead poisoning oboInOwl:hasDbXref UMLS:C0023176 Unspecified -Orphanet:330015 Lead poisoning skos:exactMatch UMLS:C0023176 Unspecified -Orphanet:330015 Lead poisoning skos:exactMatch ICD10:T56.0 Unspecified -Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:615553 Unspecified -Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome skos:exactMatch OMIM:615553 Unspecified -Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified skos:broadMatch ICD10:C56 Unspecified -Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary oboInOwl:hasDbXref UMLS:C0036769 Unspecified -Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary oboInOwl:hasDbXref UMLS:C0003810 Unspecified -Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary oboInOwl:hasDbXref UMLS:C0206723 Unspecified -Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary skos:exactMatch UMLS:C0003810 Unspecified -Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary skos:exactMatch UMLS:C0206723 Unspecified -Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary skos:exactMatch UMLS:C0036769 Unspecified -Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref ICD10:E72.2 Unspecified -Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref UMLS:C1853942 Unspecified -Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref OMIM:605814 Unspecified -Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch OMIM:605814 Unspecified -Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch UMLS:C1853942 Unspecified -Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency skos:broadMatch ICD10:E72.2 Unspecified -Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:99915 Maligant granulosa cell tumor of the ovary oboInOwl:hasDbXref MESH:D006106 Unspecified -Orphanet:99915 Maligant granulosa cell tumor of the ovary oboInOwl:hasDbXref UMLS:C0334401 Unspecified -Orphanet:99915 Maligant granulosa cell tumor of the ovary oboInOwl:hasDbXref UMLS:C1567257 Unspecified -Orphanet:99915 Maligant granulosa cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:99915 Maligant granulosa cell tumor of the ovary skos:exactMatch MESH:D006106 Unspecified -Orphanet:99915 Maligant granulosa cell tumor of the ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:99915 Maligant granulosa cell tumor of the ovary skos:exactMatch UMLS:C1567257 Unspecified -Orphanet:99915 Maligant granulosa cell tumor of the ovary skos:exactMatch UMLS:C0334401 Unspecified -Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref ICD10:D40.1 Unspecified -Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref ICD10:D39.1 Unspecified -Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref UMLS:C0018413 Unspecified -Orphanet:99914 Gynandroblastoma skos:narrowMatch ICD10:D39.1 Unspecified -Orphanet:99914 Gynandroblastoma skos:narrowMatch ICD10:D40.1 Unspecified -Orphanet:99914 Gynandroblastoma skos:exactMatch UMLS:C0018413 Unspecified -Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C2751842 Unspecified -Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref OMIM:612953 Unspecified -Orphanet:199351 Adult-onset dystonia-parkinsonism skos:exactMatch OMIM:612953 Unspecified -Orphanet:199351 Adult-onset dystonia-parkinsonism skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:199351 Adult-onset dystonia-parkinsonism skos:exactMatch UMLS:C2751842 Unspecified -Orphanet:251623 Pituicytoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251623 Pituicytoma oboInOwl:hasDbXref UMLS:C2986550 Unspecified -Orphanet:251623 Pituicytoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:251623 Pituicytoma skos:exactMatch UMLS:C2986550 Unspecified -Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref OMIM:600142 Unspecified -Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref UMLS:C1838577 Unspecified -Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 Unspecified -Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy skos:broadMatch ICD10:I67.8 Unspecified -Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy skos:exactMatch OMIM:600142 Unspecified -Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy skos:exactMatch UMLS:C1838577 Unspecified -Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref UMLS:C0028945 Unspecified -Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref OMIM:616568 Unspecified -Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref MedDRA:10030286 Unspecified -Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref OMIM:137800 Unspecified -Orphanet:251627 Oligodendroglioma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:251627 Oligodendroglioma skos:exactMatch MedDRA:10030286 Unspecified -Orphanet:251627 Oligodendroglioma skos:broadMatch OMIM:137800 Unspecified -Orphanet:251627 Oligodendroglioma skos:exactMatch UMLS:C0028945 Unspecified -Orphanet:251627 Oligodendroglioma skos:broadMatch OMIM:616568 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:608836 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref UMLS:C0342790 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:600649 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref MESH:C535589 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:255110 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency skos:narrowMatch OMIM:608836 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency skos:narrowMatch OMIM:600649 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency skos:exactMatch UMLS:C0342790 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency skos:exactMatch MESH:C535589 Unspecified -Orphanet:157 Carnitine palmitoyltransferase II deficiency skos:narrowMatch OMIM:255110 Unspecified -Orphanet:199348 Thiamine-responsive encephalopathy oboInOwl:hasDbXref OMIM:607483 Unspecified -Orphanet:199348 Thiamine-responsive encephalopathy oboInOwl:hasDbXref ICD10:E51.2 Unspecified -Orphanet:199348 Thiamine-responsive encephalopathy skos:broadMatch OMIM:607483 Unspecified -Orphanet:199348 Thiamine-responsive encephalopathy skos:broadMatch ICD10:E51.2 Unspecified -Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref UMLS:C1829703 Unspecified -Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref OMIM:255120 Unspecified -Orphanet:156 Carnitine palmitoyl transferase 1A deficiency skos:exactMatch OMIM:255120 Unspecified -Orphanet:156 Carnitine palmitoyl transferase 1A deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:156 Carnitine palmitoyl transferase 1A deficiency skos:exactMatch UMLS:C1829703 Unspecified -Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref UMLS:C0342791 Unspecified -Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref OMIM:212138 Unspecified -Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:159 Carnitine-acylcarnitine translocase deficiency skos:exactMatch OMIM:212138 Unspecified -Orphanet:159 Carnitine-acylcarnitine translocase deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:159 Carnitine-acylcarnitine translocase deficiency skos:exactMatch UMLS:C0342791 Unspecified -Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref UMLS:C0342788 Unspecified -Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref OMIM:212140 Unspecified -Orphanet:158 Systemic primary carnitine deficiency skos:exactMatch OMIM:212140 Unspecified -Orphanet:158 Systemic primary carnitine deficiency skos:exactMatch UMLS:C0342788 Unspecified -Orphanet:158 Systemic primary carnitine deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:369942 CADDS oboInOwl:hasDbXref UMLS:C1845408 Unspecified -Orphanet:369942 CADDS oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:369942 CADDS oboInOwl:hasDbXref OMIM:300475 Unspecified -Orphanet:369942 CADDS skos:broadMatch OMIM:300475 Unspecified -Orphanet:369942 CADDS skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:369942 CADDS skos:exactMatch UMLS:C1845408 Unspecified -Orphanet:330021 Mercury poisoning oboInOwl:hasDbXref UMLS:C0025427 Unspecified -Orphanet:330021 Mercury poisoning oboInOwl:hasDbXref ICD10:T56.1 Unspecified -Orphanet:330021 Mercury poisoning skos:exactMatch ICD10:T56.1 Unspecified -Orphanet:330021 Mercury poisoning skos:exactMatch UMLS:C0025427 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref UMLS:C2931822 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.3 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.1 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref MedDRA:10028793 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref UMLS:C0153392 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref OMIM:607107 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref UMLS:C0238301 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref MESH:C538339 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref OMIM:617075 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.2 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.0 Unspecified -Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref OMIM:161550 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:narrowMatch OMIM:161550 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:exactMatch UMLS:C0153392 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:exactMatch MedDRA:10028793 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:exactMatch UMLS:C2931822 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:exactMatch OMIM:607107 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:narrowMatch OMIM:617075 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:exactMatch UMLS:C0238301 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:exactMatch MESH:C538339 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:narrowMatch ICD10:C11.0 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:narrowMatch ICD10:C11.2 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:narrowMatch ICD10:C11.1 Unspecified -Orphanet:150 Nasopharyngeal carcinoma skos:narrowMatch ICD10:C11.3 Unspecified -Orphanet:370930 XYLT1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:370930 XYLT1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref OMIM:609056 Unspecified -Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:370933 GM3 synthase deficiency skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:370933 GM3 synthase deficiency skos:exactMatch OMIM:609056 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:612158 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:607482 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613122 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:601154 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611878 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611407 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:612877 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615373 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:606685 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:115200 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613252 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:618189 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613881 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615184 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:609909 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613694 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:601493 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:604765 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613172 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611615 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611879 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611880 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:600884 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615396 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:604288 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615916 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:302045 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:608569 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613286 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615235 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615248 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:605582 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:604145 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613642 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:609915 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C0340427 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613424 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613426 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613697 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:614672 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:601494 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:601494 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:614672 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:608569 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:broadMatch ICD10:I42.0 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613642 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:609915 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613424 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613426 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:exactMatch UMLS:C0340427 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613697 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615248 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615235 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613286 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:302045 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:broadMatch OMIM:615396 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615916 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:604288 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:605582 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:604145 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:604765 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611880 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611615 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613172 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611879 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:600884 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:115200 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:601493 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613252 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:609909 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613694 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:618189 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:broadMatch OMIM:615373 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:612158 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:607482 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:601154 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613122 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:606685 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:612877 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615184 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613881 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611878 Unspecified -Orphanet:154 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611407 Unspecified -Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref UMLS:C0015634 Unspecified -Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref MESH:D005203 Unspecified -Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref MedDRA:10016221 Unspecified -Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref ICD10:J67.0 Unspecified -Orphanet:99906 Farmer's lung disease skos:exactMatch MedDRA:10016221 Unspecified -Orphanet:99906 Farmer's lung disease skos:exactMatch ICD10:J67.0 Unspecified -Orphanet:99906 Farmer's lung disease skos:exactMatch UMLS:C0015634 Unspecified -Orphanet:99906 Farmer's lung disease skos:exactMatch MESH:D005203 Unspecified -Orphanet:330029 Hypotrichosis-deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 Unspecified -Orphanet:330029 Hypotrichosis-deafness syndrome skos:broadMatch ICD10:H90.5 Unspecified -Orphanet:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref UMLS:C0205768 Unspecified -Orphanet:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref ICD10:D43.2 Unspecified -Orphanet:251618 Subependymal giant cell astrocytoma skos:exactMatch UMLS:C0205768 Unspecified -Orphanet:251618 Subependymal giant cell astrocytoma skos:broadMatch ICD10:D43.2 Unspecified -Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref UMLS:C0031903 Unspecified -Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref ICD10:J67.2 Unspecified -Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref MedDRA:10004941 Unspecified -Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref MESH:D001716 Unspecified -Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref OMIM:145300 Unspecified -Orphanet:99908 Pigeon-breeder lung disease skos:broadMatch ICD10:J67.2 Unspecified -Orphanet:99908 Pigeon-breeder lung disease skos:exactMatch MedDRA:10004941 Unspecified -Orphanet:99908 Pigeon-breeder lung disease skos:exactMatch UMLS:C0031903 Unspecified -Orphanet:99908 Pigeon-breeder lung disease skos:narrowMatch OMIM:145300 Unspecified -Orphanet:99908 Pigeon-breeder lung disease skos:exactMatch MESH:D001716 Unspecified -Orphanet:99907 House allergic alveolitis oboInOwl:hasDbXref ICD10:J67.8 Unspecified -Orphanet:99907 House allergic alveolitis skos:broadMatch ICD10:J67.8 Unspecified -Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref OMIM:611126 Unspecified -Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref UMLS:C1970173 Unspecified -Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency skos:exactMatch UMLS:C1970173 Unspecified -Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency skos:exactMatch OMIM:611126 Unspecified -Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref UMLS:C2751831 Unspecified -Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref OMIM:612954 Unspecified -Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:199340 Muscular dystrophy, Selcen type skos:exactMatch UMLS:C2751831 Unspecified -Orphanet:199340 Muscular dystrophy, Selcen type skos:exactMatch OMIM:612954 Unspecified -Orphanet:199340 Muscular dystrophy, Selcen type skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:615616 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:604401 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:611528 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:602087 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:609040 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:604400 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref ICD10:I42.8 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:610193 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:600996 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:602086 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:107970 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:607450 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:610476 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:exactMatch OMIM:107970 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:609040 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:615616 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:604401 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:611528 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:602087 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:607450 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:610476 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:broadMatch ICD10:I42.8 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:604400 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:600996 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:602086 Unspecified -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:610193 Unspecified -Orphanet:251612 Pilocytic astrocytoma oboInOwl:hasDbXref UMLS:C0334583 Unspecified -Orphanet:251612 Pilocytic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251612 Pilocytic astrocytoma skos:exactMatch UMLS:C0334583 Unspecified -Orphanet:251612 Pilocytic astrocytoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:199343 EAST syndrome oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:199343 EAST syndrome oboInOwl:hasDbXref OMIM:612780 Unspecified -Orphanet:199343 EAST syndrome oboInOwl:hasDbXref UMLS:C2748572 Unspecified -Orphanet:199343 EAST syndrome skos:exactMatch UMLS:C2748572 Unspecified -Orphanet:199343 EAST syndrome skos:exactMatch OMIM:612780 Unspecified -Orphanet:199343 EAST syndrome skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:370924 STT3B-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:370924 STT3B-CDG oboInOwl:hasDbXref UMLS:C2931007 Unspecified -Orphanet:370924 STT3B-CDG oboInOwl:hasDbXref OMIM:615597 Unspecified -Orphanet:370924 STT3B-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:370924 STT3B-CDG skos:exactMatch OMIM:615597 Unspecified -Orphanet:370924 STT3B-CDG skos:exactMatch UMLS:C2931007 Unspecified -Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0162361 Unspecified -Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:129500 Unspecified -Orphanet:189 Hidrotic ectodermal dysplasia skos:exactMatch OMIM:129500 Unspecified -Orphanet:189 Hidrotic ectodermal dysplasia skos:exactMatch UMLS:C0162361 Unspecified -Orphanet:189 Hidrotic ectodermal dysplasia skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:206994 Bacterial myositis oboInOwl:hasDbXref ICD10:M60.0 Unspecified -Orphanet:206994 Bacterial myositis skos:broadMatch ICD10:M60.0 Unspecified -Orphanet:370927 SSR4-CDG oboInOwl:hasDbXref OMIM:300934 Unspecified -Orphanet:370927 SSR4-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:370927 SSR4-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:370927 SSR4-CDG skos:exactMatch OMIM:300934 Unspecified -Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref ICD10:E23.0 Unspecified -Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism skos:broadMatch ICD10:E23.0 Unspecified -Orphanet:206991 Viral myositis oboInOwl:hasDbXref ICD10:M60.0 Unspecified -Orphanet:206991 Viral myositis oboInOwl:hasDbXref MedDRA:10051512 Unspecified -Orphanet:206991 Viral myositis oboInOwl:hasDbXref UMLS:C0150005 Unspecified -Orphanet:206991 Viral myositis skos:broadMatch ICD10:M60.0 Unspecified -Orphanet:206991 Viral myositis skos:exactMatch UMLS:C0150005 Unspecified -Orphanet:206991 Viral myositis skos:exactMatch MedDRA:10051512 Unspecified -Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.9 Unspecified -Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.1 Unspecified -Orphanet:182 Chromomycosis oboInOwl:hasDbXref UMLS:C0008582 Unspecified -Orphanet:182 Chromomycosis oboInOwl:hasDbXref MedDRA:10008803 Unspecified -Orphanet:182 Chromomycosis oboInOwl:hasDbXref MESH:D002862 Unspecified -Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.8 Unspecified -Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.0 Unspecified -Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.2 Unspecified -Orphanet:182 Chromomycosis skos:narrowMatch ICD10:B43.9 Unspecified -Orphanet:182 Chromomycosis skos:narrowMatch ICD10:B43.1 Unspecified -Orphanet:182 Chromomycosis skos:exactMatch MedDRA:10008803 Unspecified -Orphanet:182 Chromomycosis skos:exactMatch UMLS:C0008582 Unspecified -Orphanet:182 Chromomycosis skos:exactMatch MESH:D002862 Unspecified -Orphanet:182 Chromomycosis skos:narrowMatch ICD10:B43.8 Unspecified -Orphanet:182 Chromomycosis skos:narrowMatch ICD10:B43.0 Unspecified -Orphanet:182 Chromomycosis skos:narrowMatch ICD10:B43.2 Unspecified -Orphanet:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref UMLS:C1853278 Unspecified -Orphanet:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref OMIM:609821 Unspecified -Orphanet:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref ICD10:D69.8 Unspecified -Orphanet:36355 Bleeding disorder due to P2Y12 defect skos:broadMatch ICD10:D69.8 Unspecified -Orphanet:36355 Bleeding disorder due to P2Y12 defect skos:exactMatch OMIM:609821 Unspecified -Orphanet:36355 Bleeding disorder due to P2Y12 defect skos:exactMatch UMLS:C1853278 Unspecified -Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:C531653 Unspecified -Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS:C0008728 Unspecified -Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MedDRA:10048594 Unspecified -Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:D015267 Unspecified -Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10:M30.1 Unspecified -Orphanet:183 Eosinophilic granulomatosis with polyangiitis skos:exactMatch ICD10:M30.1 Unspecified -Orphanet:183 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MESH:D015267 Unspecified -Orphanet:183 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MedDRA:10048594 Unspecified -Orphanet:183 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MESH:C531653 Unspecified -Orphanet:183 Eosinophilic granulomatosis with polyangiitis skos:exactMatch UMLS:C0008728 Unspecified -Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref ICD10:K74.3 Unspecified -Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:613008 Unspecified -Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:614221 Unspecified -Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref UMLS:C0008312 Unspecified -Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:613007 Unspecified -Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:614220 Unspecified -Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref UMLS:C0859942 Unspecified -Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref MedDRA:10019137 Unspecified -Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref MedDRA:10004661 Unspecified -Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:109720 Unspecified -Orphanet:186 Primary biliary cholangitis skos:exactMatch ICD10:K74.3 Unspecified -Orphanet:186 Primary biliary cholangitis skos:exactMatch UMLS:C0008312 Unspecified -Orphanet:186 Primary biliary cholangitis skos:narrowMatch OMIM:614220 Unspecified -Orphanet:186 Primary biliary cholangitis skos:narrowMatch OMIM:613007 Unspecified -Orphanet:186 Primary biliary cholangitis skos:narrowMatch OMIM:109720 Unspecified -Orphanet:186 Primary biliary cholangitis skos:narrowMatch OMIM:614221 Unspecified -Orphanet:186 Primary biliary cholangitis skos:narrowMatch OMIM:613008 Unspecified -Orphanet:186 Primary biliary cholangitis skos:exactMatch MedDRA:10004661 Unspecified -Orphanet:186 Primary biliary cholangitis skos:exactMatch MedDRA:10019137 Unspecified -Orphanet:186 Primary biliary cholangitis skos:exactMatch UMLS:C0859942 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:300310 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:601495 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:615214 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref UMLS:C0086438 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:616941 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613500 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613502 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613506 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:612692 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:300755 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref ICD10:E80.0 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613501 Unspecified -Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref UMLS:C0001768 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:exactMatch UMLS:C0001768 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:narrowMatch OMIM:613501 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:exactMatch ICD10:E80.0 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:narrowMatch OMIM:300755 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:narrowMatch OMIM:612692 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:narrowMatch OMIM:615214 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:exactMatch UMLS:C0086438 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:narrowMatch OMIM:613502 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:narrowMatch OMIM:613500 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:narrowMatch OMIM:613506 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:narrowMatch OMIM:616941 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:narrowMatch OMIM:300310 Unspecified -Orphanet:229717 Isolated agammaglobulinemia skos:narrowMatch OMIM:601495 Unspecified -Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref ICD10:I78.8 Unspecified -Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref MedDRA:10007196 Unspecified -Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref MESH:D019559 Unspecified -Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref UMLS:C0343084 Unspecified -Orphanet:188 Systemic capillary leak syndrome skos:exactMatch UMLS:C0343084 Unspecified -Orphanet:188 Systemic capillary leak syndrome skos:exactMatch MESH:D019559 Unspecified -Orphanet:188 Systemic capillary leak syndrome skos:broadMatch ICD10:I78.8 Unspecified -Orphanet:188 Systemic capillary leak syndrome skos:exactMatch MedDRA:10007196 Unspecified -Orphanet:370921 STT3A-CDG oboInOwl:hasDbXref OMIM:615596 Unspecified -Orphanet:370921 STT3A-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:370921 STT3A-CDG skos:exactMatch OMIM:615596 Unspecified -Orphanet:370921 STT3A-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome oboInOwl:hasDbXref OMIM:616185 Unspecified -Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome oboInOwl:hasDbXref ICD10:Q96.8 Unspecified -Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome skos:exactMatch OMIM:616185 Unspecified -Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome skos:broadMatch ICD10:Q96.8 Unspecified -Orphanet:137929 Neonatal brainstem dysfunction oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:137929 Neonatal brainstem dysfunction skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref MESH:D003057 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref UMLS:C0009207 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:133540 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:278780 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:616570 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:610758 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:610756 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref MedDRA:10009835 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:216411 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:216400 Unspecified -Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:214150 Unspecified -Orphanet:191 Cockayne syndrome skos:narrowMatch OMIM:610756 Unspecified -Orphanet:191 Cockayne syndrome skos:narrowMatch OMIM:610758 Unspecified -Orphanet:191 Cockayne syndrome skos:narrowMatch OMIM:216411 Unspecified -Orphanet:191 Cockayne syndrome skos:narrowMatch OMIM:216400 Unspecified -Orphanet:191 Cockayne syndrome skos:exactMatch MedDRA:10009835 Unspecified -Orphanet:191 Cockayne syndrome skos:narrowMatch OMIM:214150 Unspecified -Orphanet:191 Cockayne syndrome skos:narrowMatch OMIM:616570 Unspecified -Orphanet:191 Cockayne syndrome skos:narrowMatch OMIM:278780 Unspecified -Orphanet:191 Cockayne syndrome skos:narrowMatch OMIM:133540 Unspecified -Orphanet:191 Cockayne syndrome skos:exactMatch UMLS:C0009207 Unspecified -Orphanet:191 Cockayne syndrome skos:exactMatch MESH:D003057 Unspecified -Orphanet:191 Cockayne syndrome skos:broadMatch ICD10:Q87.1 Unspecified -Orphanet:190 Coats disease oboInOwl:hasDbXref OMIM:300216 Unspecified -Orphanet:190 Coats disease oboInOwl:hasDbXref MedDRA:10015901 Unspecified -Orphanet:190 Coats disease oboInOwl:hasDbXref MESH:D058456 Unspecified -Orphanet:190 Coats disease oboInOwl:hasDbXref UMLS:C0154832 Unspecified -Orphanet:190 Coats disease oboInOwl:hasDbXref ICD10:H35.0 Unspecified -Orphanet:190 Coats disease skos:exactMatch UMLS:C0154832 Unspecified -Orphanet:190 Coats disease skos:exactMatch MESH:D058456 Unspecified -Orphanet:190 Coats disease skos:broadMatch ICD10:H35.0 Unspecified -Orphanet:190 Coats disease skos:exactMatch OMIM:300216 Unspecified -Orphanet:190 Coats disease skos:exactMatch MedDRA:10015901 Unspecified -Orphanet:251643 Myxopapillary ependymoma oboInOwl:hasDbXref ICD10:D43.2 Unspecified -Orphanet:251643 Myxopapillary ependymoma oboInOwl:hasDbXref UMLS:C0205769 Unspecified -Orphanet:251643 Myxopapillary ependymoma skos:exactMatch UMLS:C0205769 Unspecified -Orphanet:251643 Myxopapillary ependymoma skos:broadMatch ICD10:D43.2 Unspecified -Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref MedDRA:10014968 Unspecified -Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref UMLS:C0280788 Unspecified -Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251646 Anaplastic ependymoma skos:exactMatch UMLS:C0280788 Unspecified -Orphanet:251646 Anaplastic ependymoma skos:exactMatch MedDRA:10014968 Unspecified -Orphanet:251646 Anaplastic ependymoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref MESH:C537630 Unspecified -Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref UMLS:C1853959 Unspecified -Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref OMIM:605808 Unspecified -Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref ICD10:H30.1 Unspecified -Orphanet:179 Birdshot chorioretinopathy skos:exactMatch OMIM:605808 Unspecified -Orphanet:179 Birdshot chorioretinopathy skos:exactMatch MESH:C537630 Unspecified -Orphanet:179 Birdshot chorioretinopathy skos:exactMatch UMLS:C1853959 Unspecified -Orphanet:179 Birdshot chorioretinopathy skos:broadMatch ICD10:H30.1 Unspecified -Orphanet:178 Chordoma oboInOwl:hasDbXref UMLS:C0008487 Unspecified -Orphanet:178 Chordoma oboInOwl:hasDbXref MESH:D002817 Unspecified -Orphanet:178 Chordoma oboInOwl:hasDbXref MedDRA:10008747 Unspecified -Orphanet:178 Chordoma oboInOwl:hasDbXref ICD10:C76.7 Unspecified -Orphanet:178 Chordoma oboInOwl:hasDbXref OMIM:215400 Unspecified -Orphanet:178 Chordoma skos:broadMatch ICD10:C76.7 Unspecified -Orphanet:178 Chordoma skos:exactMatch MedDRA:10008747 Unspecified -Orphanet:178 Chordoma skos:exactMatch OMIM:215400 Unspecified -Orphanet:178 Chordoma skos:exactMatch UMLS:C0008487 Unspecified -Orphanet:178 Chordoma skos:exactMatch MESH:D002817 Unspecified -Orphanet:3000 Familial male-limited precocious puberty oboInOwl:hasDbXref MESH:C536961 Unspecified -Orphanet:3000 Familial male-limited precocious puberty oboInOwl:hasDbXref MedDRA:10063654 Unspecified -Orphanet:3000 Familial male-limited precocious puberty oboInOwl:hasDbXref MedDRA:10063656 Unspecified -Orphanet:3000 Familial male-limited precocious puberty oboInOwl:hasDbXref ICD10:E30.1 Unspecified -Orphanet:3000 Familial male-limited precocious puberty oboInOwl:hasDbXref UMLS:C0342549 Unspecified -Orphanet:3000 Familial male-limited precocious puberty oboInOwl:hasDbXref UMLS:C1504412 Unspecified -Orphanet:3000 Familial male-limited precocious puberty oboInOwl:hasDbXref OMIM:176410 Unspecified -Orphanet:3000 Familial male-limited precocious puberty skos:exactMatch UMLS:C0342549 Unspecified -Orphanet:3000 Familial male-limited precocious puberty skos:exactMatch OMIM:176410 Unspecified -Orphanet:3000 Familial male-limited precocious puberty skos:exactMatch UMLS:C1504412 Unspecified -Orphanet:3000 Familial male-limited precocious puberty skos:broadMatch ICD10:E30.1 Unspecified -Orphanet:3000 Familial male-limited precocious puberty skos:exactMatch MedDRA:10063656 Unspecified -Orphanet:3000 Familial male-limited precocious puberty skos:exactMatch MedDRA:10063654 Unspecified -Orphanet:3000 Familial male-limited precocious puberty skos:exactMatch MESH:C536961 Unspecified -Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref OMIM:137800 Unspecified -Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref OMIM:616568 Unspecified -Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref MedDRA:10026659 Unspecified -Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref UMLS:C0334590 Unspecified -Orphanet:251630 Anaplastic oligodendroglioma skos:exactMatch MedDRA:10026659 Unspecified -Orphanet:251630 Anaplastic oligodendroglioma skos:exactMatch UMLS:C0334590 Unspecified -Orphanet:251630 Anaplastic oligodendroglioma skos:broadMatch OMIM:616568 Unspecified -Orphanet:251630 Anaplastic oligodendroglioma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:251630 Anaplastic oligodendroglioma skos:broadMatch OMIM:137800 Unspecified -Orphanet:3005 Pyle disease oboInOwl:hasDbXref OMIM:265900 Unspecified -Orphanet:3005 Pyle disease oboInOwl:hasDbXref ICD10:Q78.5 Unspecified -Orphanet:3005 Pyle disease oboInOwl:hasDbXref UMLS:C0265294 Unspecified -Orphanet:3005 Pyle disease oboInOwl:hasDbXref MESH:C536252 Unspecified -Orphanet:3005 Pyle disease skos:broadMatch ICD10:Q78.5 Unspecified -Orphanet:3005 Pyle disease skos:exactMatch MESH:C536252 Unspecified -Orphanet:3005 Pyle disease skos:exactMatch UMLS:C0265294 Unspecified -Orphanet:3005 Pyle disease skos:exactMatch OMIM:265900 Unspecified -Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:602114 Unspecified -Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:613806 Unspecified -Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref MESH:C536419 Unspecified -Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref UMLS:C0566602 Unspecified -Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 Unspecified -Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref MedDRA:10036732 Unspecified -Orphanet:171 Primary sclerosing cholangitis skos:narrowMatch OMIM:602114 Unspecified -Orphanet:171 Primary sclerosing cholangitis skos:exactMatch MedDRA:10036732 Unspecified -Orphanet:171 Primary sclerosing cholangitis skos:broadMatch ICD10:K83.0 Unspecified -Orphanet:171 Primary sclerosing cholangitis skos:exactMatch UMLS:C0566602 Unspecified -Orphanet:171 Primary sclerosing cholangitis skos:exactMatch OMIM:613806 Unspecified -Orphanet:171 Primary sclerosing cholangitis skos:exactMatch MESH:C536419 Unspecified -Orphanet:170 Woolly hair oboInOwl:hasDbXref MedDRA:10048017 Unspecified -Orphanet:170 Woolly hair oboInOwl:hasDbXref UMLS:C0343073 Unspecified -Orphanet:170 Woolly hair oboInOwl:hasDbXref OMIM:616760 Unspecified -Orphanet:170 Woolly hair oboInOwl:hasDbXref MESH:C536745 Unspecified -Orphanet:170 Woolly hair oboInOwl:hasDbXref OMIM:604379 Unspecified -Orphanet:170 Woolly hair oboInOwl:hasDbXref OMIM:615896 Unspecified -Orphanet:170 Woolly hair oboInOwl:hasDbXref OMIM:278150 Unspecified -Orphanet:170 Woolly hair oboInOwl:hasDbXref OMIM:194300 Unspecified -Orphanet:170 Woolly hair oboInOwl:hasDbXref ICD10:Q84.1 Unspecified -Orphanet:170 Woolly hair oboInOwl:hasDbXref UMLS:C0345427 Unspecified -Orphanet:170 Woolly hair skos:exactMatch UMLS:C0345427 Unspecified -Orphanet:170 Woolly hair skos:exactMatch OMIM:194300 Unspecified -Orphanet:170 Woolly hair skos:narrowMatch OMIM:616760 Unspecified -Orphanet:170 Woolly hair skos:exactMatch UMLS:C0343073 Unspecified -Orphanet:170 Woolly hair skos:narrowMatch OMIM:604379 Unspecified -Orphanet:170 Woolly hair skos:exactMatch MedDRA:10048017 Unspecified -Orphanet:170 Woolly hair skos:narrowMatch OMIM:615896 Unspecified -Orphanet:170 Woolly hair skos:broadMatch ICD10:Q84.1 Unspecified -Orphanet:170 Woolly hair skos:exactMatch MESH:C536745 Unspecified -Orphanet:170 Woolly hair skos:narrowMatch OMIM:278150 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref UMLS:C1291560 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref ICD10:G40.8 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref OMIM:266100 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref UMLS:C1849508 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref MESH:C536254 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref OMIM:617290 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy skos:exactMatch UMLS:C1849508 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy skos:exactMatch OMIM:617290 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy skos:exactMatch MESH:C536254 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy skos:exactMatch OMIM:266100 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy skos:exactMatch ICD10:G40.8 Unspecified -Orphanet:3006 Pyridoxine-dependent epilepsy skos:exactMatch UMLS:C1291560 Unspecified -Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref ICD10:E85.8 Unspecified -Orphanet:330001 Wild type ATTR amyloidosis skos:broadMatch ICD10:E85.8 Unspecified -Orphanet:137935 Laryngotracheal angioma oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:137935 Laryngotracheal angioma skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.1 Unspecified -Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.9 Unspecified -Orphanet:173 Cholera oboInOwl:hasDbXref MedDRA:10008631 Unspecified -Orphanet:173 Cholera oboInOwl:hasDbXref UMLS:C0008354 Unspecified -Orphanet:173 Cholera oboInOwl:hasDbXref MESH:D002771 Unspecified -Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.0 Unspecified -Orphanet:173 Cholera skos:exactMatch MESH:D002771 Unspecified -Orphanet:173 Cholera skos:exactMatch UMLS:C0008354 Unspecified -Orphanet:173 Cholera skos:narrowMatch ICD10:A00.1 Unspecified -Orphanet:173 Cholera skos:narrowMatch ICD10:A00.9 Unspecified -Orphanet:173 Cholera skos:exactMatch MedDRA:10008631 Unspecified -Orphanet:173 Cholera skos:narrowMatch ICD10:A00.0 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:615878 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K76.8 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:602347 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref UMLS:C0268312 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:211600 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:601847 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:615878 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis skos:exactMatch UMLS:C0268312 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis skos:broadMatch ICD10:K76.8 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:601847 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:211600 Unspecified -Orphanet:172 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:602347 Unspecified -Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref ICD10:E74.4 Unspecified -Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref UMLS:C0034341 Unspecified -Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref UMLS:C2931141 Unspecified -Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref OMIM:266150 Unspecified -Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref MESH:D015324 Unspecified -Orphanet:3008 Pyruvate carboxylase deficiency skos:exactMatch OMIM:266150 Unspecified -Orphanet:3008 Pyruvate carboxylase deficiency skos:exactMatch MESH:D015324 Unspecified -Orphanet:3008 Pyruvate carboxylase deficiency skos:exactMatch UMLS:C2931141 Unspecified -Orphanet:3008 Pyruvate carboxylase deficiency skos:exactMatch UMLS:C0034341 Unspecified -Orphanet:3008 Pyruvate carboxylase deficiency skos:broadMatch ICD10:E74.4 Unspecified -Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref OMIM:250250 Unspecified -Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref OMIM:250460 Unspecified -Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref MedDRA:10069596 Unspecified -Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref ICD10:Q78.8 Unspecified -Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref UMLS:C0220748 Unspecified -Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref MESH:C535916 Unspecified -Orphanet:175 Cartilage-hair hypoplasia skos:exactMatch MedDRA:10069596 Unspecified -Orphanet:175 Cartilage-hair hypoplasia skos:exactMatch MESH:C535916 Unspecified -Orphanet:175 Cartilage-hair hypoplasia skos:exactMatch UMLS:C0220748 Unspecified -Orphanet:175 Cartilage-hair hypoplasia skos:exactMatch OMIM:250250 Unspecified -Orphanet:175 Cartilage-hair hypoplasia skos:broadMatch OMIM:250460 Unspecified -Orphanet:175 Cartilage-hair hypoplasia skos:broadMatch ICD10:Q78.8 Unspecified -Orphanet:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref UMLS:C1275421 Unspecified -Orphanet:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:141184 Rapidly involuting congenital hemangioma skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:141184 Rapidly involuting congenital hemangioma skos:exactMatch UMLS:C1275421 Unspecified -Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref OMIM:275120 Unspecified -Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 Unspecified -Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency skos:broadMatch ICD10:E03.1 Unspecified -Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency skos:exactMatch OMIM:275120 Unspecified -Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref MESH:C537352 Unspecified -Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref OMIM:156500 Unspecified -Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref ICD10:Q78.5 Unspecified -Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref UMLS:C0265289 Unspecified -Orphanet:174 Metaphyseal chondrodysplasia, Schmid type skos:broadMatch ICD10:Q78.5 Unspecified -Orphanet:174 Metaphyseal chondrodysplasia, Schmid type skos:exactMatch OMIM:156500 Unspecified -Orphanet:174 Metaphyseal chondrodysplasia, Schmid type skos:exactMatch MESH:C537352 Unspecified -Orphanet:174 Metaphyseal chondrodysplasia, Schmid type skos:exactMatch UMLS:C0265289 Unspecified -Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref MedDRA:10021245 Unspecified -Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref OMIM:188030 Unspecified -Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref MESH:D016553 Unspecified -Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref UMLS:C0398650 Unspecified -Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref ICD10:D69.3 Unspecified -Orphanet:3002 Immune thrombocytopenia skos:broadMatch ICD10:D69.3 Unspecified -Orphanet:3002 Immune thrombocytopenia skos:exactMatch OMIM:188030 Unspecified -Orphanet:3002 Immune thrombocytopenia skos:exactMatch MedDRA:10021245 Unspecified -Orphanet:3002 Immune thrombocytopenia skos:exactMatch UMLS:C0398650 Unspecified -Orphanet:3002 Immune thrombocytopenia skos:exactMatch MESH:D016553 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:215100 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref MESH:D018902 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:616716 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:222765 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0282529 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:600121 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:616716 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:215100 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata skos:broadMatch ICD10:Q77.3 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata skos:exactMatch UMLS:C0282529 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:600121 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata skos:exactMatch MESH:D018902 Unspecified -Orphanet:177 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:222765 Unspecified -Orphanet:251639 Subependymoma oboInOwl:hasDbXref UMLS:C0206725 Unspecified -Orphanet:251639 Subependymoma oboInOwl:hasDbXref ICD10:D43.2 Unspecified -Orphanet:251639 Subependymoma skos:exactMatch UMLS:C0206725 Unspecified -Orphanet:251639 Subependymoma skos:broadMatch ICD10:D43.2 Unspecified -Orphanet:180 Choroideremia oboInOwl:hasDbXref UMLS:C0008525 Unspecified -Orphanet:180 Choroideremia oboInOwl:hasDbXref OMIM:303100 Unspecified -Orphanet:180 Choroideremia oboInOwl:hasDbXref MESH:D015794 Unspecified -Orphanet:180 Choroideremia oboInOwl:hasDbXref ICD10:H31.2 Unspecified -Orphanet:180 Choroideremia oboInOwl:hasDbXref MedDRA:10008791 Unspecified -Orphanet:180 Choroideremia skos:exactMatch MESH:D015794 Unspecified -Orphanet:180 Choroideremia skos:exactMatch OMIM:303100 Unspecified -Orphanet:180 Choroideremia skos:exactMatch MedDRA:10008791 Unspecified -Orphanet:180 Choroideremia skos:broadMatch ICD10:H31.2 Unspecified -Orphanet:180 Choroideremia skos:exactMatch UMLS:C0008525 Unspecified -Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome oboInOwl:hasDbXref OMIM:615474 Unspecified -Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome oboInOwl:hasDbXref ICD10:E26.0 Unspecified -Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome skos:broadMatch ICD10:E26.0 Unspecified -Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome skos:exactMatch OMIM:615474 Unspecified -Orphanet:251636 Ependymoma oboInOwl:hasDbXref ICD10:D43.2 Unspecified -Orphanet:251636 Ependymoma oboInOwl:hasDbXref UMLS:C0014474 Unspecified -Orphanet:251636 Ependymoma oboInOwl:hasDbXref MedDRA:10014967 Unspecified -Orphanet:251636 Ependymoma skos:broadMatch ICD10:D43.2 Unspecified -Orphanet:251636 Ependymoma skos:exactMatch MedDRA:10014967 Unspecified -Orphanet:251636 Ependymoma skos:exactMatch UMLS:C0014474 Unspecified -Orphanet:3096 Reye syndrome oboInOwl:hasDbXref MedDRA:10039012 Unspecified -Orphanet:3096 Reye syndrome oboInOwl:hasDbXref ICD10:G93.7 Unspecified -Orphanet:3096 Reye syndrome oboInOwl:hasDbXref UMLS:C0035400 Unspecified -Orphanet:3096 Reye syndrome oboInOwl:hasDbXref MESH:D012202 Unspecified -Orphanet:3096 Reye syndrome skos:exactMatch MESH:D012202 Unspecified -Orphanet:3096 Reye syndrome skos:exactMatch UMLS:C0035400 Unspecified -Orphanet:3096 Reye syndrome skos:broadMatch ICD10:G93.7 Unspecified -Orphanet:3096 Reye syndrome skos:exactMatch MedDRA:10039012 Unspecified -Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref OMIM:268240 Unspecified -Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I00 Unspecified -Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.9 Unspecified -Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.1 Unspecified -Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref MESH:D012213 Unspecified -Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref MedDRA:10039054 Unspecified -Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref UMLS:C0035436 Unspecified -Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.8 Unspecified -Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.2 Unspecified -Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.0 Unspecified -Orphanet:3099 Rheumatic fever skos:narrowMatch ICD10:I01.8 Unspecified -Orphanet:3099 Rheumatic fever skos:narrowMatch ICD10:I01.2 Unspecified -Orphanet:3099 Rheumatic fever skos:narrowMatch ICD10:I01.0 Unspecified -Orphanet:3099 Rheumatic fever skos:exactMatch MESH:D012213 Unspecified -Orphanet:3099 Rheumatic fever skos:narrowMatch OMIM:268240 Unspecified -Orphanet:3099 Rheumatic fever skos:narrowMatch ICD10:I00 Unspecified -Orphanet:3099 Rheumatic fever skos:narrowMatch ICD10:I01.9 Unspecified -Orphanet:3099 Rheumatic fever skos:narrowMatch ICD10:I01.1 Unspecified -Orphanet:3099 Rheumatic fever skos:exactMatch UMLS:C0035436 Unspecified -Orphanet:3099 Rheumatic fever skos:exactMatch MedDRA:10039054 Unspecified -Orphanet:238688 Neonatal iodine exposure oboInOwl:hasDbXref ICD10:P72.2 Unspecified -Orphanet:238688 Neonatal iodine exposure skos:broadMatch ICD10:P72.2 Unspecified -Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref UMLS:C0431108 Unspecified -Orphanet:251663 Anaplastic oligoastrocytoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:251663 Anaplastic oligoastrocytoma skos:exactMatch UMLS:C0431108 Unspecified -Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:617904 Unspecified -Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:613454 Unspecified -Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref UMLS:C2748910 Unspecified -Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref ICD10:F84.2 Unspecified -Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:312750 Unspecified -Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:617903 Unspecified -Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:300672 Unspecified -Orphanet:3095 Atypical Rett syndrome skos:broadMatch ICD10:F84.2 Unspecified -Orphanet:3095 Atypical Rett syndrome skos:narrowMatch OMIM:613454 Unspecified -Orphanet:3095 Atypical Rett syndrome skos:broadMatch OMIM:617904 Unspecified -Orphanet:3095 Atypical Rett syndrome skos:narrowMatch OMIM:300672 Unspecified -Orphanet:3095 Atypical Rett syndrome skos:broadMatch OMIM:617903 Unspecified -Orphanet:3095 Atypical Rett syndrome skos:broadMatch OMIM:312750 Unspecified -Orphanet:3095 Atypical Rett syndrome skos:exactMatch UMLS:C2748910 Unspecified -Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref OMIM:605285 Unspecified -Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref UMLS:C1854449 Unspecified -Orphanet:99953 Charcot-Marie-Tooth disease type 4G skos:exactMatch UMLS:C1854449 Unspecified -Orphanet:99953 Charcot-Marie-Tooth disease type 4G skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99953 Charcot-Marie-Tooth disease type 4G skos:exactMatch OMIM:605285 Unspecified -Orphanet:480556 Isolated neonatal sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 Unspecified -Orphanet:480556 Isolated neonatal sclerosing cholangitis skos:broadMatch ICD10:K83.0 Unspecified -Orphanet:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref OMIM:614895 Unspecified -Orphanet:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99952 Charcot-Marie-Tooth disease type 4F skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99952 Charcot-Marie-Tooth disease type 4F skos:exactMatch OMIM:614895 Unspecified -Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref MESH:C535420 Unspecified -Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref UMLS:C1832399 Unspecified -Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref OMIM:601382 Unspecified -Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch OMIM:601382 Unspecified -Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch UMLS:C1832399 Unspecified -Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch MESH:C535420 Unspecified -Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDbXref OMIM:616852 Unspecified -Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy skos:exactMatch OMIM:616852 Unspecified -Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref UMLS:C1836336 Unspecified -Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref OMIM:609311 Unspecified -Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99954 Charcot-Marie-Tooth disease type 4H skos:exactMatch UMLS:C1836336 Unspecified -Orphanet:99954 Charcot-Marie-Tooth disease type 4H skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99954 Charcot-Marie-Tooth disease type 4H skos:exactMatch OMIM:609311 Unspecified -Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:267300 Unspecified -Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:611590 Unspecified -Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 Unspecified -Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref UMLS:C0259810 Unspecified -Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:179800 Unspecified -Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref UMLS:C1704380 Unspecified -Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:602722 Unspecified -Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref MedDRA:10045224 Unspecified -Orphanet:18 Distal renal tubular acidosis skos:exactMatch UMLS:C1704380 Unspecified -Orphanet:18 Distal renal tubular acidosis skos:exactMatch MedDRA:10045224 Unspecified -Orphanet:18 Distal renal tubular acidosis skos:broadMatch ICD10:N25.8 Unspecified -Orphanet:18 Distal renal tubular acidosis skos:exactMatch UMLS:C0259810 Unspecified -Orphanet:18 Distal renal tubular acidosis skos:narrowMatch OMIM:267300 Unspecified -Orphanet:18 Distal renal tubular acidosis skos:narrowMatch OMIM:611590 Unspecified -Orphanet:18 Distal renal tubular acidosis skos:narrowMatch OMIM:602722 Unspecified -Orphanet:18 Distal renal tubular acidosis skos:narrowMatch OMIM:179800 Unspecified -Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref OMIM:245400 Unspecified -Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria skos:exactMatch OMIM:245400 Unspecified -Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:169464 Primary CD59 deficiency oboInOwl:hasDbXref OMIM:612300 Unspecified -Orphanet:169464 Primary CD59 deficiency oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:169464 Primary CD59 deficiency skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:169464 Primary CD59 deficiency skos:exactMatch OMIM:612300 Unspecified -Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref MESH:C535301 Unspecified -Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref OMIM:605253 Unspecified -Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99951 Charcot-Marie-Tooth disease type 4E skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99951 Charcot-Marie-Tooth disease type 4E skos:exactMatch MESH:C535301 Unspecified -Orphanet:99951 Charcot-Marie-Tooth disease type 4E skos:exactMatch OMIM:605253 Unspecified -Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref UMLS:C0398764 Unspecified -Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref OMIM:613912 Unspecified -Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency skos:exactMatch UMLS:C0398764 Unspecified -Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency skos:exactMatch OMIM:613912 Unspecified -Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref OMIM:601455 Unspecified -Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref MESH:C535716 Unspecified -Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref UMLS:C1832334 Unspecified -Orphanet:99950 Charcot-Marie-Tooth disease type 4D skos:exactMatch UMLS:C1832334 Unspecified -Orphanet:99950 Charcot-Marie-Tooth disease type 4D skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99950 Charcot-Marie-Tooth disease type 4D skos:exactMatch MESH:C535716 Unspecified -Orphanet:99950 Charcot-Marie-Tooth disease type 4D skos:exactMatch OMIM:601455 Unspecified -Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref MESH:D000012 Unspecified -Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref UMLS:C0000744 Unspecified -Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 Unspecified -Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:200100 Unspecified -Orphanet:14 Abetalipoproteinemia skos:exactMatch UMLS:C0000744 Unspecified -Orphanet:14 Abetalipoproteinemia skos:exactMatch OMIM:200100 Unspecified -Orphanet:14 Abetalipoproteinemia skos:broadMatch ICD10:E78.6 Unspecified -Orphanet:14 Abetalipoproteinemia skos:exactMatch MESH:D000012 Unspecified -Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref OMIM:303700 Unspecified -Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref MESH:C536238 Unspecified -Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref MESH:C538165 Unspecified -Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref UMLS:C2931753 Unspecified -Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref ICD10:H53.5 Unspecified -Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref UMLS:C0339537 Unspecified -Orphanet:16 Blue cone monochromatism skos:exactMatch UMLS:C0339537 Unspecified -Orphanet:16 Blue cone monochromatism skos:exactMatch UMLS:C2931753 Unspecified -Orphanet:16 Blue cone monochromatism skos:exactMatch MESH:C538165 Unspecified -Orphanet:16 Blue cone monochromatism skos:broadMatch ICD10:H53.5 Unspecified -Orphanet:16 Blue cone monochromatism skos:exactMatch MESH:C536238 Unspecified -Orphanet:16 Blue cone monochromatism skos:exactMatch OMIM:303700 Unspecified -Orphanet:15 Achondroplasia oboInOwl:hasDbXref ICD10:Q77.4 Unspecified -Orphanet:15 Achondroplasia oboInOwl:hasDbXref MESH:D000130 Unspecified -Orphanet:15 Achondroplasia oboInOwl:hasDbXref MedDRA:10000452 Unspecified -Orphanet:15 Achondroplasia oboInOwl:hasDbXref OMIM:100800 Unspecified -Orphanet:15 Achondroplasia oboInOwl:hasDbXref UMLS:C0001080 Unspecified -Orphanet:15 Achondroplasia skos:exactMatch ICD10:Q77.4 Unspecified -Orphanet:15 Achondroplasia skos:exactMatch UMLS:C0001080 Unspecified -Orphanet:15 Achondroplasia skos:exactMatch OMIM:100800 Unspecified -Orphanet:15 Achondroplasia skos:exactMatch MedDRA:10000452 Unspecified -Orphanet:15 Achondroplasia skos:exactMatch MESH:D000130 Unspecified -Orphanet:137867 Madras motor neuron disease oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:137867 Madras motor neuron disease oboInOwl:hasDbXref UMLS:C0393551 Unspecified -Orphanet:137867 Madras motor neuron disease skos:exactMatch UMLS:C0393551 Unspecified -Orphanet:137867 Madras motor neuron disease skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref ICD10:K59.8 Unspecified -Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref OMIM:616201 Unspecified -Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome skos:exactMatch OMIM:616201 Unspecified -Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome skos:broadMatch ICD10:K59.8 Unspecified -Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref UMLS:C1858278 Unspecified -Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref MESH:C535421 Unspecified -Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref OMIM:604563 Unspecified -Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch OMIM:604563 Unspecified -Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch MESH:C535421 Unspecified -Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch UMLS:C1858278 Unspecified -Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref OMIM:610455 Unspecified -Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref UMLS:C0263628 Unspecified -Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref OMIM:211900 Unspecified -Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref MedDRA:10059364 Unspecified -Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref ICD10:M11.2 Unspecified -Orphanet:53715 Familial tumoral calcinosis skos:narrowMatch OMIM:610455 Unspecified -Orphanet:53715 Familial tumoral calcinosis skos:narrowMatch OMIM:211900 Unspecified -Orphanet:53715 Familial tumoral calcinosis skos:exactMatch MedDRA:10059364 Unspecified -Orphanet:53715 Familial tumoral calcinosis skos:broadMatch ICD10:M11.2 Unspecified -Orphanet:53715 Familial tumoral calcinosis skos:exactMatch UMLS:C0263628 Unspecified -Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 Unspecified -Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref OMIM:605362 Unspecified -Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy skos:exactMatch OMIM:605362 Unspecified -Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy skos:broadMatch ICD10:I42.0 Unspecified -Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.7 Unspecified -Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.9 Unspecified -Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.3 Unspecified -Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.5 Unspecified -Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.8 Unspecified -Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.0 Unspecified -Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.2 Unspecified -Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.4 Unspecified -Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.6 Unspecified -Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref OMIM:607677 Unspecified -Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref UMLS:C3888087 Unspecified -Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I skos:exactMatch UMLS:C3888087 Unspecified -Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I skos:exactMatch OMIM:607677 Unspecified -Orphanet:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref OMIM:137215 Unspecified -Orphanet:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref ICD10:C16.9 Unspecified -Orphanet:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref UMLS:C1708349 Unspecified -Orphanet:26106 Hereditary diffuse gastric cancer skos:exactMatch UMLS:C1708349 Unspecified -Orphanet:26106 Hereditary diffuse gastric cancer skos:exactMatch OMIM:137215 Unspecified -Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref OMIM:608591 Unspecified -Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref UMLS:C1837805 Unspecified -Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G skos:exactMatch UMLS:C1837805 Unspecified -Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G skos:exactMatch OMIM:608591 Unspecified -Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:609800 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref UMLS:C3502809 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:618482 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:616172 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:613863 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:604403 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:612279 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:604233 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:611277 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:613828 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:613060 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:611277 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:broadMatch OMIM:613060 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:613828 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:exactMatch OMIM:604233 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:616172 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:613863 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:612279 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:604403 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:609800 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:exactMatch UMLS:C3502809 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:618482 Unspecified -Orphanet:36387 Generalized epilepsy with febrile seizures-plus skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref UMLS:C1842984 Unspecified -Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref OMIM:607831 Unspecified -Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref UMLS:C1842983 Unspecified -Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K skos:broadMatch OMIM:607831 Unspecified -Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K skos:exactMatch UMLS:C1842983 Unspecified -Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K skos:exactMatch UMLS:C1842984 Unspecified -Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref OMIM:607736 Unspecified -Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref UMLS:C1843153 Unspecified -Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J skos:exactMatch UMLS:C1843153 Unspecified -Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J skos:exactMatch OMIM:607736 Unspecified -Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:162400 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:615632 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:613708 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:613640 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref UMLS:C0020071 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:162400 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:615632 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 skos:exactMatch UMLS:C0020071 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:613708 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:613640 Unspecified -Orphanet:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref OMIM:619165 Unspecified -Orphanet:597733 Oculocutaneous albinism type 8 skos:exactMatch OMIM:619165 Unspecified -Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement oboInOwl:hasDbXref ICD10:C85.7 Unspecified -Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:broadMatch ICD10:C85.7 Unspecified -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 Unspecified -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref OMIM:175780 Unspecified -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref UMLS:C2930808 Unspecified -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref UMLS:C1843512 Unspecified -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy skos:exactMatch UMLS:C1843512 Unspecified -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy skos:exactMatch UMLS:C2930808 Unspecified -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy skos:broadMatch OMIM:175780 Unspecified -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy skos:broadMatch ICD10:I67.8 Unspecified -Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref OMIM:606595 Unspecified -Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref UMLS:C1847823 Unspecified -Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F skos:exactMatch UMLS:C1847823 Unspecified -Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F skos:exactMatch OMIM:606595 Unspecified -Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref ICD10:C44.4 Unspecified -Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref ICD10:C44.3 Unspecified -Orphanet:499182 Pilomatrix carcinoma skos:narrowMatch ICD10:C44.4 Unspecified -Orphanet:499182 Pilomatrix carcinoma skos:narrowMatch ICD10:C44.3 Unspecified -Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.0 Unspecified -Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.5 Unspecified -Orphanet:36382 Familial cervical artery dissection skos:broadMatch ICD10:I72.0 Unspecified -Orphanet:36382 Familial cervical artery dissection skos:broadMatch ICD10:I72.5 Unspecified -Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:608908 Unspecified -Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref UMLS:C0027092 Unspecified -Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:614292 Unspecified -Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:615431 Unspecified -Orphanet:98619 Rare isolated myopia skos:narrowMatch OMIM:614292 Unspecified -Orphanet:98619 Rare isolated myopia skos:narrowMatch OMIM:615431 Unspecified -Orphanet:98619 Rare isolated myopia skos:exactMatch UMLS:C0027092 Unspecified -Orphanet:98619 Rare isolated myopia skos:narrowMatch OMIM:608908 Unspecified -Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref OMIM:601596 Unspecified -Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref MESH:C535423 Unspecified -Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref UMLS:C1866636 Unspecified -Orphanet:99949 Charcot-Marie-Tooth disease type 4C skos:exactMatch MESH:C535423 Unspecified -Orphanet:99949 Charcot-Marie-Tooth disease type 4C skos:exactMatch UMLS:C1866636 Unspecified -Orphanet:99949 Charcot-Marie-Tooth disease type 4C skos:exactMatch OMIM:601596 Unspecified -Orphanet:99949 Charcot-Marie-Tooth disease type 4C skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref OMIM:118210 Unspecified -Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref UMLS:C1861678 Unspecified -Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 skos:exactMatch OMIM:118210 Unspecified -Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 skos:exactMatch UMLS:C1861678 Unspecified -Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref UMLS:C3888087 Unspecified -Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref OMIM:608673 Unspecified -Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L skos:exactMatch UMLS:C3888087 Unspecified -Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L skos:exactMatch OMIM:608673 Unspecified -Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref MESH:C535419 Unspecified -Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref UMLS:C1859198 Unspecified -Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref OMIM:214400 Unspecified -Orphanet:99948 Charcot-Marie-Tooth disease type 4A skos:exactMatch UMLS:C1859198 Unspecified -Orphanet:99948 Charcot-Marie-Tooth disease type 4A skos:exactMatch MESH:C535419 Unspecified -Orphanet:99948 Charcot-Marie-Tooth disease type 4A skos:exactMatch OMIM:214400 Unspecified -Orphanet:99948 Charcot-Marie-Tooth disease type 4A skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref OMIM:609260 Unspecified -Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref UMLS:C1836485 Unspecified -Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 skos:exactMatch UMLS:C1836485 Unspecified -Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 skos:exactMatch OMIM:609260 Unspecified -Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref MedDRA:10027744 Unspecified -Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref UMLS:C0280793 Unspecified -Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251656 Oligoastrocytoma skos:exactMatch UMLS:C0280793 Unspecified -Orphanet:251656 Oligoastrocytoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:251656 Oligoastrocytoma skos:exactMatch MedDRA:10027744 Unspecified -Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref OMIM:614172 Unspecified -Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref ICD10:D72.8 Unspecified -Orphanet:228423 Monocytopenia with susceptibility to infections skos:exactMatch OMIM:614172 Unspecified -Orphanet:228423 Monocytopenia with susceptibility to infections skos:broadMatch ICD10:D72.8 Unspecified -Orphanet:263665 NK-cell enteropathy oboInOwl:hasDbXref ICD10:K63.8 Unspecified -Orphanet:263665 NK-cell enteropathy skos:broadMatch ICD10:K63.8 Unspecified -Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref OMIM:178610 Unspecified -Orphanet:60026 Pulmonary nodular lymphoid hyperplasia skos:exactMatch OMIM:178610 Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:J99.8* Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref MESH:C536281 Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:E83.1+ Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:235500 Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref UMLS:C0020807 Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:178550 Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis skos:narrowMatch OMIM:235500 Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis skos:exactMatch OMIM:178550 Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis skos:broadMatch ICD10:E83.1+ Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis skos:broadMatch ICD10:J99.8* Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis skos:exactMatch MESH:C536281 Unspecified -Orphanet:99931 Idiopathic pulmonary hemosiderosis skos:exactMatch UMLS:C0020807 Unspecified -Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref OMIM:256600 Unspecified -Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref ICD10:G23.0 Unspecified -Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref OMIM:610217 Unspecified -Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref UMLS:C0270724 Unspecified -Orphanet:35069 Infantile neuroaxonal dystrophy skos:exactMatch UMLS:C0270724 Unspecified -Orphanet:35069 Infantile neuroaxonal dystrophy skos:exactMatch OMIM:256600 Unspecified -Orphanet:35069 Infantile neuroaxonal dystrophy skos:broadMatch ICD10:G23.0 Unspecified -Orphanet:35069 Infantile neuroaxonal dystrophy skos:narrowMatch OMIM:610217 Unspecified -Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:E83.1+ Unspecified -Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:J99.8* Unspecified -Orphanet:99930 Secondary pulmonary hemosiderosis skos:broadMatch ICD10:E83.1+ Unspecified -Orphanet:99930 Secondary pulmonary hemosiderosis skos:broadMatch ICD10:J99.8* Unspecified -Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref UMLS:C0001529 Unspecified -Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref MESH:D000274 Unspecified -Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref OMIM:103200 Unspecified -Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref ICD10:E88.2 Unspecified -Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref MedDRA:10001294 Unspecified -Orphanet:36397 Adiposis dolorosa skos:exactMatch OMIM:103200 Unspecified -Orphanet:36397 Adiposis dolorosa skos:exactMatch MedDRA:10001294 Unspecified -Orphanet:36397 Adiposis dolorosa skos:broadMatch ICD10:E88.2 Unspecified -Orphanet:36397 Adiposis dolorosa skos:exactMatch MESH:D000274 Unspecified -Orphanet:36397 Adiposis dolorosa skos:exactMatch UMLS:C0001529 Unspecified -Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref OMIM:613385 Unspecified -Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency skos:exactMatch OMIM:613385 Unspecified -Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref ICD10:Q02 Unspecified -Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref OMIM:616657 Unspecified -Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:exactMatch OMIM:616657 Unspecified -Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:broadMatch ICD10:Q02 Unspecified -Orphanet:35063 Fulminant viral hepatitis oboInOwl:hasDbXref ICD10:K72 Unspecified -Orphanet:35063 Fulminant viral hepatitis skos:broadMatch ICD10:K72 Unspecified -Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients oboInOwl:hasDbXref ICD10:B25.8 Unspecified -Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients skos:broadMatch ICD10:B25.8 Unspecified -Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref OMIM:607684 Unspecified -Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref UMLS:C1843225 Unspecified -Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E skos:exactMatch OMIM:607684 Unspecified -Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E skos:exactMatch UMLS:C1843225 Unspecified -Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref OMIM:601472 Unspecified -Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref UMLS:C1832274 Unspecified -Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D skos:exactMatch UMLS:C1832274 Unspecified -Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D skos:exactMatch OMIM:601472 Unspecified -Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome oboInOwl:hasDbXref OMIM:614457 Unspecified -Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome oboInOwl:hasDbXref ICD10:Q80.8 Unspecified -Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:broadMatch ICD10:Q80.8 Unspecified -Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:exactMatch OMIM:614457 Unspecified -Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref OMIM:606071 Unspecified -Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref UMLS:C1853710 Unspecified -Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C skos:exactMatch UMLS:C1853710 Unspecified -Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C skos:exactMatch OMIM:606071 Unspecified -Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref UMLS:C1833219 Unspecified -Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref OMIM:600882 Unspecified -Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B skos:exactMatch OMIM:600882 Unspecified -Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B skos:exactMatch UMLS:C1833219 Unspecified -Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref MedDRA:10037315 Unspecified -Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref ICD10:J84.0 Unspecified -Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref UMLS:C0155912 Unspecified -Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref OMIM:265100 Unspecified -Orphanet:60025 Pulmonary alveolar microlithiasis skos:exactMatch OMIM:265100 Unspecified -Orphanet:60025 Pulmonary alveolar microlithiasis skos:exactMatch UMLS:C0155912 Unspecified -Orphanet:60025 Pulmonary alveolar microlithiasis skos:broadMatch ICD10:J84.0 Unspecified -Orphanet:60025 Pulmonary alveolar microlithiasis skos:exactMatch MedDRA:10037315 Unspecified -Orphanet:217601 Hypertrophic cardiomyopathy due to intensive athletic training oboInOwl:hasDbXref ICD10:I42.2 Unspecified -Orphanet:217601 Hypertrophic cardiomyopathy due to intensive athletic training skos:broadMatch ICD10:I42.2 Unspecified -Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref UMLS:C0343068 Unspecified -Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref MedDRA:10064570 Unspecified -Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref OMIM:120100 Unspecified -Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref ICD10:L50.2 Unspecified -Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref OMIM:616115 Unspecified -Orphanet:47045 Familial cold urticaria skos:exactMatch MedDRA:10064570 Unspecified -Orphanet:47045 Familial cold urticaria skos:exactMatch UMLS:C0343068 Unspecified -Orphanet:47045 Familial cold urticaria skos:narrowMatch OMIM:616115 Unspecified -Orphanet:47045 Familial cold urticaria skos:narrowMatch OMIM:120100 Unspecified -Orphanet:47045 Familial cold urticaria skos:broadMatch ICD10:L50.2 Unspecified -Orphanet:263662 Familial multiple meningioma oboInOwl:hasDbXref ICD10:D32.9 Unspecified -Orphanet:263662 Familial multiple meningioma oboInOwl:hasDbXref OMIM:607174 Unspecified -Orphanet:263662 Familial multiple meningioma skos:broadMatch ICD10:D32.9 Unspecified -Orphanet:263662 Familial multiple meningioma skos:narrowMatch OMIM:607174 Unspecified -Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref MedDRA:10042342 Unspecified -Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref ICD10:L13.1 Unspecified -Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref UMLS:C0600336 Unspecified -Orphanet:48377 Subcorneal pustular dermatosis skos:exactMatch ICD10:L13.1 Unspecified -Orphanet:48377 Subcorneal pustular dermatosis skos:exactMatch UMLS:C0600336 Unspecified -Orphanet:48377 Subcorneal pustular dermatosis skos:exactMatch MedDRA:10042342 Unspecified -Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref OMIM:605074 Unspecified -Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C0879257 Unspecified -Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C2931899 Unspecified -Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref MESH:C538614 Unspecified -Orphanet:47044 Hereditary papillary renal cell carcinoma skos:exactMatch MESH:C538614 Unspecified -Orphanet:47044 Hereditary papillary renal cell carcinoma skos:exactMatch UMLS:C2931899 Unspecified -Orphanet:47044 Hereditary papillary renal cell carcinoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:47044 Hereditary papillary renal cell carcinoma skos:exactMatch UMLS:C0879257 Unspecified -Orphanet:47044 Hereditary papillary renal cell carcinoma skos:exactMatch OMIM:605074 Unspecified -Orphanet:251671 Angiocentric glioma oboInOwl:hasDbXref UMLS:C2363903 Unspecified -Orphanet:251671 Angiocentric glioma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251671 Angiocentric glioma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:251671 Angiocentric glioma skos:exactMatch UMLS:C2363903 Unspecified -Orphanet:251674 Chordoid glioma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251674 Chordoid glioma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref UMLS:C0157721 Unspecified -Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:L12+ Unspecified -Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref MedDRA:10067776 Unspecified -Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:H13.3* Unspecified -Orphanet:99922 Ocular cicatricial pemphigoid skos:exactMatch ICD10:H13.3* Unspecified -Orphanet:99922 Ocular cicatricial pemphigoid skos:exactMatch MedDRA:10067776 Unspecified -Orphanet:99922 Ocular cicatricial pemphigoid skos:exactMatch UMLS:C0157721 Unspecified -Orphanet:99922 Ocular cicatricial pemphigoid skos:exactMatch ICD10:L12+ Unspecified -Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency oboInOwl:hasDbXref ICD10:D81.2 Unspecified -Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency oboInOwl:hasDbXref OMIM:600802 Unspecified -Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch OMIM:600802 Unspecified -Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:broadMatch ICD10:D81.2 Unspecified -Orphanet:444013 Combined oxidative phosphorylation defect type 23 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:444013 Combined oxidative phosphorylation defect type 23 oboInOwl:hasDbXref OMIM:616198 Unspecified -Orphanet:444013 Combined oxidative phosphorylation defect type 23 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:444013 Combined oxidative phosphorylation defect type 23 skos:exactMatch OMIM:616198 Unspecified -Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref UMLS:C0206666 Unspecified -Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref MESH:D018245 Unspecified -Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref ICD10:D39.2 Unspecified -Orphanet:99928 Placental site trophoblastic tumor skos:exactMatch MESH:D018245 Unspecified -Orphanet:99928 Placental site trophoblastic tumor skos:exactMatch UMLS:C0206666 Unspecified -Orphanet:99928 Placental site trophoblastic tumor skos:broadMatch ICD10:D39.2 Unspecified -Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.0 Unspecified -Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref MESH:D006828 Unspecified -Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref MedDRA:10020481 Unspecified -Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref OMIM:614293 Unspecified -Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref OMIM:231090 Unspecified -Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.9 Unspecified -Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.1 Unspecified -Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref UMLS:C0020217 Unspecified -Orphanet:99927 Hydatidiform mole skos:exactMatch MedDRA:10020481 Unspecified -Orphanet:99927 Hydatidiform mole skos:exactMatch MESH:D006828 Unspecified -Orphanet:99927 Hydatidiform mole skos:narrowMatch ICD10:O01.1 Unspecified -Orphanet:99927 Hydatidiform mole skos:narrowMatch ICD10:O01.9 Unspecified -Orphanet:99927 Hydatidiform mole skos:narrowMatch OMIM:231090 Unspecified -Orphanet:99927 Hydatidiform mole skos:narrowMatch ICD10:O01.0 Unspecified -Orphanet:99927 Hydatidiform mole skos:exactMatch UMLS:C0020217 Unspecified -Orphanet:99927 Hydatidiform mole skos:narrowMatch OMIM:614293 Unspecified -Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome oboInOwl:hasDbXref OMIM:616200 Unspecified -Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome skos:exactMatch OMIM:616200 Unspecified -Orphanet:99926 Gestational choriocarcinoma oboInOwl:hasDbXref ICD10:C58 Unspecified -Orphanet:99926 Gestational choriocarcinoma oboInOwl:hasDbXref UMLS:C0349557 Unspecified -Orphanet:99926 Gestational choriocarcinoma skos:broadMatch ICD10:C58 Unspecified -Orphanet:99926 Gestational choriocarcinoma skos:exactMatch UMLS:C0349557 Unspecified -Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref ICD10:H15.5 Unspecified -Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref OMIM:210370 Unspecified -Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref UMLS:C1859486 Unspecified -Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref MESH:C535440 Unspecified -Orphanet:41751 Bietti crystalline dystrophy skos:exactMatch UMLS:C1859486 Unspecified -Orphanet:41751 Bietti crystalline dystrophy skos:broadMatch ICD10:H15.5 Unspecified -Orphanet:41751 Bietti crystalline dystrophy skos:exactMatch OMIM:210370 Unspecified -Orphanet:41751 Bietti crystalline dystrophy skos:exactMatch MESH:C535440 Unspecified -Orphanet:99925 Invasive mole oboInOwl:hasDbXref ICD10:D39.2 Unspecified -Orphanet:99925 Invasive mole oboInOwl:hasDbXref UMLS:C0008493 Unspecified -Orphanet:99925 Invasive mole skos:exactMatch UMLS:C0008493 Unspecified -Orphanet:99925 Invasive mole skos:broadMatch ICD10:D39.2 Unspecified -Orphanet:60014 Argyria oboInOwl:hasDbXref MedDRA:10003094 Unspecified -Orphanet:60014 Argyria oboInOwl:hasDbXref MESH:D001129 Unspecified -Orphanet:60014 Argyria oboInOwl:hasDbXref ICD10:T56.8 Unspecified -Orphanet:60014 Argyria oboInOwl:hasDbXref UMLS:C0003782 Unspecified -Orphanet:60014 Argyria skos:exactMatch UMLS:C0003782 Unspecified -Orphanet:60014 Argyria skos:exactMatch MedDRA:10003094 Unspecified -Orphanet:60014 Argyria skos:exactMatch MESH:D001129 Unspecified -Orphanet:60014 Argyria skos:broadMatch ICD10:T56.8 Unspecified -Orphanet:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref ICD10:C96.2 Unspecified -Orphanet:158778 Isolated bone marrow mastocytosis skos:broadMatch ICD10:C96.2 Unspecified -Orphanet:83595 Colorado tick fever oboInOwl:hasDbXref UMLS:C0009400 Unspecified -Orphanet:83595 Colorado tick fever oboInOwl:hasDbXref MedDRA:10010022 Unspecified -Orphanet:83595 Colorado tick fever oboInOwl:hasDbXref MESH:D003121 Unspecified -Orphanet:83595 Colorado tick fever oboInOwl:hasDbXref ICD10:A93.2 Unspecified -Orphanet:83595 Colorado tick fever skos:exactMatch MESH:D003121 Unspecified -Orphanet:83595 Colorado tick fever skos:broadMatch ICD10:A93.2 Unspecified -Orphanet:83595 Colorado tick fever skos:exactMatch MedDRA:10010022 Unspecified -Orphanet:83595 Colorado tick fever skos:exactMatch UMLS:C0009400 Unspecified -Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref ICD10:G04.0 Unspecified -Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref UMLS:C0014059 Unspecified -Orphanet:83597 Acute disseminated encephalomyelitis skos:exactMatch UMLS:C0014059 Unspecified -Orphanet:83597 Acute disseminated encephalomyelitis skos:broadMatch ICD10:G04.0 Unspecified -Orphanet:251679 Astroblastoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251679 Astroblastoma oboInOwl:hasDbXref UMLS:C0334587 Unspecified -Orphanet:251679 Astroblastoma skos:exactMatch UMLS:C0334587 Unspecified -Orphanet:251679 Astroblastoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:158775 Smoldering systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 Unspecified -Orphanet:158775 Smoldering systemic mastocytosis skos:broadMatch ICD10:C96.2 Unspecified -Orphanet:83594 Eastern equine encephalitis oboInOwl:hasDbXref MedDRA:10014587 Unspecified -Orphanet:83594 Eastern equine encephalitis oboInOwl:hasDbXref ICD10:A83.2 Unspecified -Orphanet:83594 Eastern equine encephalitis oboInOwl:hasDbXref UMLS:C0153065 Unspecified -Orphanet:83594 Eastern equine encephalitis skos:broadMatch ICD10:A83.2 Unspecified -Orphanet:83594 Eastern equine encephalitis skos:exactMatch UMLS:C0153065 Unspecified -Orphanet:83594 Eastern equine encephalitis skos:exactMatch MedDRA:10014587 Unspecified -Orphanet:83593 Western equine encephalitis oboInOwl:hasDbXref MedDRA:10014614 Unspecified -Orphanet:83593 Western equine encephalitis oboInOwl:hasDbXref ICD10:A83.1 Unspecified -Orphanet:83593 Western equine encephalitis oboInOwl:hasDbXref UMLS:C0153064 Unspecified -Orphanet:83593 Western equine encephalitis skos:exactMatch UMLS:C0153064 Unspecified -Orphanet:83593 Western equine encephalitis skos:broadMatch ICD10:A83.1 Unspecified -Orphanet:83593 Western equine encephalitis skos:exactMatch MedDRA:10014614 Unspecified -Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome oboInOwl:hasDbXref UMLS:C2931381 Unspecified -Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome oboInOwl:hasDbXref OMIM:309480 Unspecified -Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch OMIM:309480 Unspecified -Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch UMLS:C2931381 Unspecified -Orphanet:401777 Optic atrophy-intellectual disability syndrome oboInOwl:hasDbXref ICD10:H47.2 Unspecified -Orphanet:401777 Optic atrophy-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615722 Unspecified -Orphanet:401777 Optic atrophy-intellectual disability syndrome skos:broadMatch ICD10:H47.2 Unspecified -Orphanet:401777 Optic atrophy-intellectual disability syndrome skos:exactMatch OMIM:615722 Unspecified -Orphanet:26137 Juvenile temporal arteritis oboInOwl:hasDbXref UMLS:C0751547 Unspecified -Orphanet:26137 Juvenile temporal arteritis oboInOwl:hasDbXref ICD10:L95.8 Unspecified -Orphanet:26137 Juvenile temporal arteritis skos:exactMatch UMLS:C0751547 Unspecified -Orphanet:26137 Juvenile temporal arteritis skos:broadMatch ICD10:L95.8 Unspecified -Orphanet:480512 Idiopathic ductopenia oboInOwl:hasDbXref ICD10:K83.8 Unspecified -Orphanet:480512 Idiopathic ductopenia skos:broadMatch ICD10:K83.8 Unspecified -Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref UMLS:C0029376 Unspecified -Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref ICD10:M93.2 Unspecified -Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref MedDRA:10031130 Unspecified -Orphanet:97335 Osgood-Schlatter disease skos:broadMatch ICD10:M93.2 Unspecified -Orphanet:97335 Osgood-Schlatter disease skos:exactMatch MedDRA:10031130 Unspecified -Orphanet:97335 Osgood-Schlatter disease skos:exactMatch UMLS:C0029376 Unspecified -Orphanet:97336 Panner disease oboInOwl:hasDbXref ICD10:M92.0 Unspecified -Orphanet:97336 Panner disease skos:broadMatch ICD10:M92.0 Unspecified -Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref MedDRA:10063585 Unspecified -Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref ICD10:M92.4 Unspecified -Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref UMLS:C0264096 Unspecified -Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref UMLS:C1504517 Unspecified -Orphanet:97337 Sinding-Larsen-Johansson disease skos:exactMatch UMLS:C0264096 Unspecified -Orphanet:97337 Sinding-Larsen-Johansson disease skos:exactMatch UMLS:C1504517 Unspecified -Orphanet:97337 Sinding-Larsen-Johansson disease skos:exactMatch MedDRA:10063585 Unspecified -Orphanet:97337 Sinding-Larsen-Johansson disease skos:broadMatch ICD10:M92.4 Unspecified -Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref MESH:D013901 Unspecified -Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C0039984 Unspecified -Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref MedDRA:10048627 Unspecified -Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 Unspecified -Orphanet:97330 Thoracic outlet syndrome skos:broadMatch ICD10:G54.0 Unspecified -Orphanet:97330 Thoracic outlet syndrome skos:exactMatch MedDRA:10048627 Unspecified -Orphanet:97330 Thoracic outlet syndrome skos:exactMatch UMLS:C0039984 Unspecified -Orphanet:97330 Thoracic outlet syndrome skos:exactMatch MESH:D013901 Unspecified -Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref OMIM:300615 Unspecified -Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref ICD10:E70.8 Unspecified -Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref UMLS:C0796275 Unspecified -Orphanet:3057 Monoamine oxidase A deficiency skos:exactMatch UMLS:C0796275 Unspecified -Orphanet:3057 Monoamine oxidase A deficiency skos:exactMatch OMIM:300615 Unspecified -Orphanet:3057 Monoamine oxidase A deficiency skos:broadMatch ICD10:E70.8 Unspecified -Orphanet:97332 Kienbock disease oboInOwl:hasDbXref MedDRA:10064242 Unspecified -Orphanet:97332 Kienbock disease oboInOwl:hasDbXref UMLS:C0022682 Unspecified -Orphanet:97332 Kienbock disease oboInOwl:hasDbXref ICD10:M92.2 Unspecified -Orphanet:97332 Kienbock disease oboInOwl:hasDbXref ICD10:M93.1 Unspecified -Orphanet:97332 Kienbock disease skos:exactMatch UMLS:C0022682 Unspecified -Orphanet:97332 Kienbock disease skos:narrowMatch ICD10:M92.2 Unspecified -Orphanet:97332 Kienbock disease skos:exactMatch MedDRA:10064242 Unspecified -Orphanet:97332 Kienbock disease skos:narrowMatch ICD10:M93.1 Unspecified -Orphanet:97338 Melanoma of soft tissue oboInOwl:hasDbXref UMLS:C0206651 Unspecified -Orphanet:97338 Melanoma of soft tissue oboInOwl:hasDbXref ICD10:C43.7 Unspecified -Orphanet:97338 Melanoma of soft tissue oboInOwl:hasDbXref ICD10:C43.6 Unspecified -Orphanet:97338 Melanoma of soft tissue skos:exactMatch UMLS:C0206651 Unspecified -Orphanet:97338 Melanoma of soft tissue skos:narrowMatch ICD10:C43.6 Unspecified -Orphanet:97338 Melanoma of soft tissue skos:narrowMatch ICD10:C43.7 Unspecified -Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref UMLS:C0311338 Unspecified -Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref UMLS:C1405854 Unspecified -Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref OMIM:136880 Unspecified -Orphanet:52427 Retinitis punctata albescens skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:52427 Retinitis punctata albescens skos:broadMatch OMIM:136880 Unspecified -Orphanet:52427 Retinitis punctata albescens skos:exactMatch UMLS:C0311338 Unspecified -Orphanet:52427 Retinitis punctata albescens skos:exactMatch UMLS:C1405854 Unspecified -Orphanet:60041 Congenital heart block oboInOwl:hasDbXref UMLS:C0149530 Unspecified -Orphanet:60041 Congenital heart block oboInOwl:hasDbXref ICD10:Q24.6 Unspecified -Orphanet:60041 Congenital heart block oboInOwl:hasDbXref OMIM:234700 Unspecified -Orphanet:60041 Congenital heart block oboInOwl:hasDbXref UMLS:C3884338 Unspecified -Orphanet:60041 Congenital heart block oboInOwl:hasDbXref MedDRA:10019263 Unspecified -Orphanet:60041 Congenital heart block oboInOwl:hasDbXref MESH:C535758 Unspecified -Orphanet:60041 Congenital heart block skos:exactMatch MedDRA:10019263 Unspecified -Orphanet:60041 Congenital heart block skos:exactMatch MESH:C535758 Unspecified -Orphanet:60041 Congenital heart block skos:exactMatch UMLS:C3884338 Unspecified -Orphanet:60041 Congenital heart block skos:exactMatch OMIM:234700 Unspecified -Orphanet:60041 Congenital heart block skos:exactMatch ICD10:Q24.6 Unspecified -Orphanet:60041 Congenital heart block skos:exactMatch UMLS:C0149530 Unspecified -Orphanet:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref UMLS:C0796160 Unspecified -Orphanet:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref OMIM:309583 Unspecified -Orphanet:3063 X-linked intellectual disability, Snyder type skos:exactMatch UMLS:C0796160 Unspecified -Orphanet:3063 X-linked intellectual disability, Snyder type skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:3063 X-linked intellectual disability, Snyder type skos:exactMatch OMIM:309583 Unspecified -Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref UMLS:C1997249 Unspecified -Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref MESH:D060545 Unspecified -Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref UMLS:C3178970 Unspecified -Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref ICD10:G57.8 Unspecified -Orphanet:60039 Pudendal neuralgia skos:broadMatch ICD10:G57.8 Unspecified -Orphanet:60039 Pudendal neuralgia skos:exactMatch UMLS:C3178970 Unspecified -Orphanet:60039 Pudendal neuralgia skos:exactMatch MESH:D060545 Unspecified -Orphanet:60039 Pudendal neuralgia skos:exactMatch UMLS:C1997249 Unspecified -Orphanet:480506 Primary intrahepatic lithiasis oboInOwl:hasDbXref ICD10:K80.3 Unspecified -Orphanet:480506 Primary intrahepatic lithiasis skos:broadMatch ICD10:K80.3 Unspecified -Orphanet:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref OMIM:615681 Unspecified -Orphanet:401785 Autosomal recessive spastic paraplegia type 62 skos:exactMatch OMIM:615681 Unspecified -Orphanet:401785 Autosomal recessive spastic paraplegia type 62 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref OMIM:615685 Unspecified -Orphanet:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401780 Autosomal recessive spastic paraplegia type 61 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:401780 Autosomal recessive spastic paraplegia type 61 skos:exactMatch OMIM:615685 Unspecified -Orphanet:352328 MEGDEL syndrome oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:352328 MEGDEL syndrome oboInOwl:hasDbXref OMIM:614739 Unspecified -Orphanet:352328 MEGDEL syndrome skos:exactMatch OMIM:614739 Unspecified -Orphanet:352328 MEGDEL syndrome skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:99981 Apnea of prematurity oboInOwl:hasDbXref UMLS:C0475715 Unspecified -Orphanet:99981 Apnea of prematurity oboInOwl:hasDbXref ICD10:P28.4 Unspecified -Orphanet:99981 Apnea of prematurity skos:exactMatch UMLS:C0475715 Unspecified -Orphanet:99981 Apnea of prematurity skos:broadMatch ICD10:P28.4 Unspecified -Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref UMLS:C1854663 Unspecified -Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref OMIM:253320 Unspecified -Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch OMIM:253320 Unspecified -Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch UMLS:C1854663 Unspecified -Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:99989 Intermediate DEND syndrome oboInOwl:hasDbXref ICD10:P70.2 Unspecified -Orphanet:99989 Intermediate DEND syndrome skos:broadMatch ICD10:P70.2 Unspecified -Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref MESH:D020522 Unspecified -Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref ICD10:C83.1 Unspecified -Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref UMLS:C0555202 Unspecified -Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref MedDRA:10061275 Unspecified -Orphanet:52416 Mantle cell lymphoma skos:exactMatch MedDRA:10061275 Unspecified -Orphanet:52416 Mantle cell lymphoma skos:exactMatch UMLS:C0555202 Unspecified -Orphanet:52416 Mantle cell lymphoma skos:exactMatch MESH:D020522 Unspecified -Orphanet:52416 Mantle cell lymphoma skos:exactMatch ICD10:C83.1 Unspecified -Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref UMLS:C0242647 Unspecified -Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref MedDRA:10060707 Unspecified -Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref OMIM:137245 Unspecified -Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref ICD10:C88.4 Unspecified -Orphanet:52417 MALT lymphoma skos:exactMatch ICD10:C88.4 Unspecified -Orphanet:52417 MALT lymphoma skos:exactMatch MedDRA:10060707 Unspecified -Orphanet:52417 MALT lymphoma skos:exactMatch OMIM:137245 Unspecified -Orphanet:52417 MALT lymphoma skos:exactMatch UMLS:C0242647 Unspecified -Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref ICD10:J47 Unspecified -Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:613071 Unspecified -Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:211400 Unspecified -Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref UMLS:C0339985 Unspecified -Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:613021 Unspecified -Orphanet:60033 Idiopathic bronchiectasis skos:narrowMatch OMIM:613021 Unspecified -Orphanet:60033 Idiopathic bronchiectasis skos:exactMatch UMLS:C0339985 Unspecified -Orphanet:60033 Idiopathic bronchiectasis skos:narrowMatch OMIM:613071 Unspecified -Orphanet:60033 Idiopathic bronchiectasis skos:narrowMatch OMIM:211400 Unspecified -Orphanet:60033 Idiopathic bronchiectasis skos:broadMatch ICD10:J47 Unspecified -Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref UMLS:C1168198 Unspecified -Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref MedDRA:10059314 Unspecified -Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref MESH:C535297 Unspecified -Orphanet:60032 Recurrent respiratory papillomatosis skos:exactMatch MESH:C535297 Unspecified -Orphanet:60032 Recurrent respiratory papillomatosis skos:exactMatch UMLS:C1168198 Unspecified -Orphanet:60032 Recurrent respiratory papillomatosis skos:exactMatch MedDRA:10059314 Unspecified -Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref ICD10:Q78.2 Unspecified -Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref OMIM:612301 Unspecified -Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref UMLS:C2676766 Unspecified -Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome skos:exactMatch UMLS:C2676766 Unspecified -Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome skos:broadMatch ICD10:Q78.2 Unspecified -Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome skos:exactMatch OMIM:612301 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref UMLS:C0035828 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref MedDRA:10039211 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:612955 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613695 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613693 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613688 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:603830 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:616247 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:616249 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:611820 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:611819 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:192500 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref ICD10:I45.8 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:600919 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613485 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref MESH:D029597 Unspecified -Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:611818 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:exactMatch MESH:D029597 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:611818 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:broadMatch ICD10:I45.8 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:exactMatch OMIM:192500 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:600919 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:613485 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:616247 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:616249 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:611819 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:611820 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:exactMatch MedDRA:10039211 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:613688 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:613695 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:613693 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:603830 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:exactMatch UMLS:C0035828 Unspecified -Orphanet:101016 Romano-Ward syndrome skos:narrowMatch OMIM:612955 Unspecified -Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref UMLS:C1853247 Unspecified -Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref OMIM:610250 Unspecified -Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:101011 Autosomal dominant spastic paraplegia type 31 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:101011 Autosomal dominant spastic paraplegia type 31 skos:exactMatch UMLS:C1853247 Unspecified -Orphanet:101011 Autosomal dominant spastic paraplegia type 31 skos:exactMatch OMIM:610250 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref UMLS:C0279626 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.4 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.0 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref OMIM:133239 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.1 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.3 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus skos:narrowMatch ICD10:C15.4 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus skos:narrowMatch ICD10:C15.0 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus skos:broadMatch OMIM:133239 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus skos:narrowMatch ICD10:C15.3 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus skos:narrowMatch ICD10:C15.1 Unspecified -Orphanet:99977 Squamous cell carcinoma of the esophagus skos:exactMatch UMLS:C0279626 Unspecified -Orphanet:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref UMLS:C1835896 Unspecified -Orphanet:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref OMIM:610357 Unspecified -Orphanet:101010 Autosomal spastic paraplegia type 30 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:101010 Autosomal spastic paraplegia type 30 skos:exactMatch UMLS:C1835896 Unspecified -Orphanet:101010 Autosomal spastic paraplegia type 30 skos:exactMatch OMIM:610357 Unspecified -Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.5 Unspecified -Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref OMIM:614266 Unspecified -Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.2 Unspecified -Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref UMLS:C0279628 Unspecified -Orphanet:99976 Adenocarcinoma of the esophagus skos:narrowMatch ICD10:C15.2 Unspecified -Orphanet:99976 Adenocarcinoma of the esophagus skos:exactMatch UMLS:C0279628 Unspecified -Orphanet:99976 Adenocarcinoma of the esophagus skos:broadMatch OMIM:614266 Unspecified -Orphanet:99976 Adenocarcinoma of the esophagus skos:narrowMatch ICD10:C15.5 Unspecified -Orphanet:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref OMIM:616430 Unspecified -Orphanet:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:447954 Combined oxidative phosphorylation defect type 25 skos:exactMatch OMIM:616430 Unspecified -Orphanet:447954 Combined oxidative phosphorylation defect type 25 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:99978 Klatskin tumor oboInOwl:hasDbXref ICD10:C24.0 Unspecified -Orphanet:99978 Klatskin tumor oboInOwl:hasDbXref UMLS:C0206702 Unspecified -Orphanet:99978 Klatskin tumor oboInOwl:hasDbXref MESH:D018285 Unspecified -Orphanet:99978 Klatskin tumor skos:exactMatch MESH:D018285 Unspecified -Orphanet:99978 Klatskin tumor skos:exactMatch UMLS:C0206702 Unspecified -Orphanet:99978 Klatskin tumor skos:broadMatch ICD10:C24.0 Unspecified -Orphanet:85323 X-linked intellectual disability, Seemanova type oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:85323 X-linked intellectual disability, Seemanova type skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation oboInOwl:hasDbXref ICD10:D68.8 Unspecified -Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:broadMatch ICD10:D68.8 Unspecified -Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref UMLS:C1843291 Unspecified -Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref OMIM:607656 Unspecified -Orphanet:307766 Curly hair-acral keratoderma-caries syndrome skos:exactMatch OMIM:607656 Unspecified -Orphanet:307766 Curly hair-acral keratoderma-caries syndrome skos:exactMatch UMLS:C1843291 Unspecified -Orphanet:307766 Curly hair-acral keratoderma-caries syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIM:615424 Unspecified -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIM:615422 Unspecified -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIM:167320 Unspecified -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref UMLS:C1833662 Unspecified -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIM:167320 Unspecified -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch UMLS:C1833662 Unspecified -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:narrowMatch OMIM:615424 Unspecified -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:narrowMatch OMIM:615422 Unspecified -Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref UMLS:C2936860 Unspecified -Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref OMIM:608220 Unspecified -Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref MESH:C536861 Unspecified -Orphanet:101005 Autosomal recessive spastic paraplegia type 25 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:101005 Autosomal recessive spastic paraplegia type 25 skos:exactMatch MESH:C536861 Unspecified -Orphanet:101005 Autosomal recessive spastic paraplegia type 25 skos:exactMatch OMIM:608220 Unspecified -Orphanet:101005 Autosomal recessive spastic paraplegia type 25 skos:exactMatch UMLS:C2936860 Unspecified -Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome oboInOwl:hasDbXref OMIM:618373 Unspecified -Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:exactMatch OMIM:618373 Unspecified -Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref UMLS:C3888099 Unspecified -Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref OMIM:193220 Unspecified -Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref MESH:C536352 Unspecified -Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy skos:exactMatch MESH:C536352 Unspecified -Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy skos:exactMatch OMIM:193220 Unspecified -Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy skos:exactMatch UMLS:C3888099 Unspecified -Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref OMIM:300672 Unspecified -Orphanet:505652 CDKL5-deficiency disorder skos:exactMatch OMIM:300672 Unspecified -Orphanet:505652 CDKL5-deficiency disorder skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref UMLS:C1843569 Unspecified -Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref OMIM:607584 Unspecified -Orphanet:101004 Autosomal recessive spastic paraplegia type 24 skos:exactMatch UMLS:C1843569 Unspecified -Orphanet:101004 Autosomal recessive spastic paraplegia type 24 skos:exactMatch OMIM:607584 Unspecified -Orphanet:101004 Autosomal recessive spastic paraplegia type 24 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:401768 Proximal myopathy with extrapyramidal signs oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:401768 Proximal myopathy with extrapyramidal signs oboInOwl:hasDbXref OMIM:615673 Unspecified -Orphanet:401768 Proximal myopathy with extrapyramidal signs skos:exactMatch OMIM:615673 Unspecified -Orphanet:401768 Proximal myopathy with extrapyramidal signs skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref OMIM:609041 Unspecified -Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref UMLS:C1836899 Unspecified -Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:101007 Autosomal recessive spastic paraplegia type 27 skos:exactMatch UMLS:C1836899 Unspecified -Orphanet:101007 Autosomal recessive spastic paraplegia type 27 skos:exactMatch OMIM:609041 Unspecified -Orphanet:101007 Autosomal recessive spastic paraplegia type 27 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref MESH:C536862 Unspecified -Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref OMIM:609195 Unspecified -Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref UMLS:C1836632 Unspecified -Orphanet:101006 Autosomal recessive spastic paraplegia type 26 skos:exactMatch UMLS:C1836632 Unspecified -Orphanet:101006 Autosomal recessive spastic paraplegia type 26 skos:exactMatch MESH:C536862 Unspecified -Orphanet:101006 Autosomal recessive spastic paraplegia type 26 skos:exactMatch OMIM:609195 Unspecified -Orphanet:101006 Autosomal recessive spastic paraplegia type 26 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref UMLS:C1855346 Unspecified -Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref OMIM:248900 Unspecified -Orphanet:101001 Autosomal recessive spastic paraplegia type 21 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:101001 Autosomal recessive spastic paraplegia type 21 skos:exactMatch OMIM:248900 Unspecified -Orphanet:101001 Autosomal recessive spastic paraplegia type 21 skos:exactMatch UMLS:C1855346 Unspecified -Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref OMIM:275900 Unspecified -Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref UMLS:C0393559 Unspecified -Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:101000 Autosomal recessive spastic paraplegia type 20 skos:exactMatch OMIM:275900 Unspecified -Orphanet:101000 Autosomal recessive spastic paraplegia type 20 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:101000 Autosomal recessive spastic paraplegia type 20 skos:exactMatch UMLS:C0393559 Unspecified -Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref OMIM:270750 Unspecified -Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref UMLS:C0796019 Unspecified -Orphanet:101003 Autosomal recessive spastic paraplegia type 23 skos:exactMatch UMLS:C0796019 Unspecified -Orphanet:101003 Autosomal recessive spastic paraplegia type 23 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:101003 Autosomal recessive spastic paraplegia type 23 skos:exactMatch OMIM:270750 Unspecified -Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome oboInOwl:hasDbXref OMIM:614924 Unspecified -Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:exactMatch OMIM:614924 Unspecified -Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref OMIM:615715 Unspecified -Orphanet:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref ICD10:D61.0 Unspecified -Orphanet:401764 Pancytopenia-developmental delay syndrome skos:exactMatch OMIM:615715 Unspecified -Orphanet:401764 Pancytopenia-developmental delay syndrome skos:broadMatch ICD10:D61.0 Unspecified -Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref OMIM:132800 Unspecified -Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref UMLS:C0546476 Unspecified -Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref ICD10:D48.5 Unspecified -Orphanet:65748 Multiple self-healing squamous epithelioma skos:broadMatch ICD10:D48.5 Unspecified -Orphanet:65748 Multiple self-healing squamous epithelioma skos:exactMatch UMLS:C0546476 Unspecified -Orphanet:65748 Multiple self-healing squamous epithelioma skos:exactMatch OMIM:132800 Unspecified -Orphanet:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref MedDRA:10069682 Unspecified -Orphanet:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref ICD10:G12.8 Unspecified -Orphanet:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref UMLS:C2721741 Unspecified -Orphanet:99965 O'Sullivan-McLeod syndrome skos:broadMatch ICD10:G12.8 Unspecified -Orphanet:99965 O'Sullivan-McLeod syndrome skos:exactMatch UMLS:C2721741 Unspecified -Orphanet:99965 O'Sullivan-McLeod syndrome skos:exactMatch MedDRA:10069682 Unspecified -Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V oboInOwl:hasDbXref OMIM:616491 Unspecified -Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V skos:exactMatch OMIM:616491 Unspecified -Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref OMIM:616039 Unspecified -Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D skos:exactMatch OMIM:616039 Unspecified -Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref UMLS:C1970180 Unspecified -Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref OMIM:611105 Unspecified -Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch OMIM:611105 Unspecified -Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch UMLS:C1970180 Unspecified -Orphanet:210163 Congenital lethal myopathy, Compton-North type oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:210163 Congenital lethal myopathy, Compton-North type oboInOwl:hasDbXref OMIM:612540 Unspecified -Orphanet:210163 Congenital lethal myopathy, Compton-North type skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:210163 Congenital lethal myopathy, Compton-North type skos:exactMatch OMIM:612540 Unspecified -Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref MESH:C536863 Unspecified -Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref OMIM:609727 Unspecified -Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref UMLS:C1857855 Unspecified -Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:101009 Autosomal dominant spastic paraplegia type 29 skos:exactMatch UMLS:C1857855 Unspecified -Orphanet:101009 Autosomal dominant spastic paraplegia type 29 skos:exactMatch OMIM:609727 Unspecified -Orphanet:101009 Autosomal dominant spastic paraplegia type 29 skos:exactMatch MESH:C536863 Unspecified -Orphanet:101009 Autosomal dominant spastic paraplegia type 29 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref UMLS:C1836295 Unspecified -Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref OMIM:609340 Unspecified -Orphanet:101008 Autosomal recessive spastic paraplegia type 28 skos:exactMatch UMLS:C1836295 Unspecified -Orphanet:101008 Autosomal recessive spastic paraplegia type 28 skos:exactMatch OMIM:609340 Unspecified -Orphanet:101008 Autosomal recessive spastic paraplegia type 28 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C0795873 Unspecified -Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:300578 Unspecified -Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch UMLS:C0795873 Unspecified -Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch OMIM:300578 Unspecified -Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref UMLS:C1848137 Unspecified -Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref OMIM:300088 Unspecified -Orphanet:101039 Female restricted epilepsy with intellectual disability skos:exactMatch OMIM:300088 Unspecified -Orphanet:101039 Female restricted epilepsy with intellectual disability skos:exactMatch UMLS:C1848137 Unspecified -Orphanet:519390 Isolated blepharochalasis oboInOwl:hasDbXref ICD10:H02.3 Unspecified -Orphanet:519390 Isolated blepharochalasis skos:exactMatch ICD10:H02.3 Unspecified -Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref OMIM:616640 Unspecified -Orphanet:324290 Early-onset Lafora body disease skos:exactMatch OMIM:616640 Unspecified -Orphanet:324290 Early-onset Lafora body disease skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref UMLS:C0085435 Unspecified -Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref UMLS:C0035012 Unspecified -Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref ICD10:M02.3 Unspecified -Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref MedDRA:10038294 Unspecified -Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref MedDRA:10003267 Unspecified -Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref MESH:D016918 Unspecified -Orphanet:29207 Reactive arthritis skos:exactMatch MESH:D016918 Unspecified -Orphanet:29207 Reactive arthritis skos:exactMatch MedDRA:10038294 Unspecified -Orphanet:29207 Reactive arthritis skos:exactMatch MedDRA:10003267 Unspecified -Orphanet:29207 Reactive arthritis skos:exactMatch UMLS:C0085435 Unspecified -Orphanet:29207 Reactive arthritis skos:exactMatch UMLS:C0035012 Unspecified -Orphanet:29207 Reactive arthritis skos:exactMatch ICD10:M02.3 Unspecified -Orphanet:519392 Isolated iridoschisis oboInOwl:hasDbXref ICD10:H21.2 Unspecified -Orphanet:519392 Isolated iridoschisis skos:broadMatch ICD10:H21.2 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618222 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618224 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618226 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618228 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618237 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618233 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618240 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618246 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618242 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618251 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618253 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:619003 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:619272 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618776 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:301021 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:252010 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618225 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618229 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618234 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618236 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618230 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618232 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618238 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618241 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618245 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618250 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref UMLS:C2936907 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:619170 Unspecified -Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:301020 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618776 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:619272 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:619003 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618253 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618251 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618242 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618240 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618246 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:301021 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:exactMatch OMIM:252010 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618237 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618233 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618228 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618226 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618224 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618222 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:exactMatch UMLS:C2936907 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618250 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618241 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618245 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:301020 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618230 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618238 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618236 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618234 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618232 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618229 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:618225 Unspecified -Orphanet:2609 Isolated complex I deficiency skos:narrowMatch OMIM:619170 Unspecified -Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref OMIM:270550 Unspecified -Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref UMLS:C1849140 Unspecified -Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref MESH:C536787 Unspecified -Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay skos:exactMatch MESH:C536787 Unspecified -Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay skos:exactMatch OMIM:270550 Unspecified -Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay skos:exactMatch UMLS:C1849140 Unspecified -Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref OMIM:108500 Unspecified -Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref UMLS:C1720416 Unspecified -Orphanet:97 Familial paroxysmal ataxia skos:exactMatch UMLS:C1720416 Unspecified -Orphanet:97 Familial paroxysmal ataxia skos:exactMatch OMIM:108500 Unspecified -Orphanet:97 Familial paroxysmal ataxia skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref OMIM:619350 Unspecified -Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref UMLS:C0266833 Unspecified -Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref UMLS:C1835084 Unspecified -Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref ICD10:K56.0 Unspecified -Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref OMIM:155310 Unspecified -Orphanet:2604 Familial visceral myopathy skos:broadMatch ICD10:K56.0 Unspecified -Orphanet:2604 Familial visceral myopathy skos:broadMatch OMIM:155310 Unspecified -Orphanet:2604 Familial visceral myopathy skos:exactMatch UMLS:C1835084 Unspecified -Orphanet:2604 Familial visceral myopathy skos:narrowMatch OMIM:619350 Unspecified -Orphanet:2604 Familial visceral myopathy skos:exactMatch UMLS:C0266833 Unspecified -Orphanet:477781 Primary condylar hyperplasia oboInOwl:hasDbXref ICD10:K07.0 Unspecified -Orphanet:477781 Primary condylar hyperplasia skos:broadMatch ICD10:K07.0 Unspecified -Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref MedDRA:10068220 Unspecified -Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref MESH:C538402 Unspecified -Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref MESH:D054880 Unspecified -Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref OMIM:208400 Unspecified -Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref ICD10:E77.1 Unspecified -Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref UMLS:C2931840 Unspecified -Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref UMLS:C0268225 Unspecified -Orphanet:93 Aspartylglucosaminuria skos:broadMatch ICD10:E77.1 Unspecified -Orphanet:93 Aspartylglucosaminuria skos:exactMatch UMLS:C2931840 Unspecified -Orphanet:93 Aspartylglucosaminuria skos:exactMatch UMLS:C0268225 Unspecified -Orphanet:93 Aspartylglucosaminuria skos:exactMatch MESH:D054880 Unspecified -Orphanet:93 Aspartylglucosaminuria skos:exactMatch MedDRA:10068220 Unspecified -Orphanet:93 Aspartylglucosaminuria skos:exactMatch OMIM:208400 Unspecified -Orphanet:93 Aspartylglucosaminuria skos:exactMatch MESH:C538402 Unspecified -Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency oboInOwl:hasDbXref OMIM:616154 Unspecified -Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency skos:exactMatch OMIM:616154 Unspecified -Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref OMIM:277460 Unspecified -Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref UMLS:C1848533 Unspecified -Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref MESH:C535393 Unspecified -Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref MedDRA:10047631 Unspecified -Orphanet:96 Ataxia with vitamin E deficiency skos:exactMatch MedDRA:10047631 Unspecified -Orphanet:96 Ataxia with vitamin E deficiency skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:96 Ataxia with vitamin E deficiency skos:exactMatch OMIM:277460 Unspecified -Orphanet:96 Ataxia with vitamin E deficiency skos:exactMatch UMLS:C1848533 Unspecified -Orphanet:96 Ataxia with vitamin E deficiency skos:exactMatch MESH:C535393 Unspecified -Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref MESH:D005621 Unspecified -Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref OMIM:601992 Unspecified -Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref UMLS:C0016719 Unspecified -Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref MedDRA:10017374 Unspecified -Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref OMIM:229300 Unspecified -Orphanet:95 Friedreich ataxia skos:exactMatch MedDRA:10017374 Unspecified -Orphanet:95 Friedreich ataxia skos:exactMatch OMIM:229300 Unspecified -Orphanet:95 Friedreich ataxia skos:exactMatch UMLS:C0016719 Unspecified -Orphanet:95 Friedreich ataxia skos:narrowMatch OMIM:601992 Unspecified -Orphanet:95 Friedreich ataxia skos:exactMatch MESH:D005621 Unspecified -Orphanet:95 Friedreich ataxia skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:90 Argininemia oboInOwl:hasDbXref OMIM:207800 Unspecified -Orphanet:90 Argininemia oboInOwl:hasDbXref ICD10:E72.2 Unspecified -Orphanet:90 Argininemia oboInOwl:hasDbXref UMLS:C0268548 Unspecified -Orphanet:90 Argininemia oboInOwl:hasDbXref MedDRA:10062695 Unspecified -Orphanet:90 Argininemia oboInOwl:hasDbXref MESH:D020162 Unspecified -Orphanet:90 Argininemia skos:exactMatch MedDRA:10062695 Unspecified -Orphanet:90 Argininemia skos:broadMatch ICD10:E72.2 Unspecified -Orphanet:90 Argininemia skos:exactMatch MESH:D020162 Unspecified -Orphanet:90 Argininemia skos:exactMatch OMIM:207800 Unspecified -Orphanet:90 Argininemia skos:exactMatch UMLS:C0268548 Unspecified -Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder oboInOwl:hasDbXref OMIM:618372 Unspecified -Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder oboInOwl:hasDbXref ICD10:D69.1 Unspecified -Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:exactMatch OMIM:618372 Unspecified -Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:broadMatch ICD10:D69.1 Unspecified -Orphanet:210159 Adult hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 Unspecified -Orphanet:210159 Adult hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 Unspecified -Orphanet:210159 Adult hepatocellular carcinoma skos:broadMatch ICD10:C22.0 Unspecified -Orphanet:210159 Adult hepatocellular carcinoma skos:broadMatch OMIM:114550 Unspecified -Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref UMLS:C1960539 Unspecified -Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref OMIM:613546 Unspecified -Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref UMLS:C0878680 Unspecified -Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref ICD10:E25.8 Unspecified -Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref MESH:C537436 Unspecified -Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref UMLS:C0853662 Unspecified -Orphanet:91 Aromatase deficiency skos:exactMatch MESH:C537436 Unspecified -Orphanet:91 Aromatase deficiency skos:exactMatch UMLS:C0853662 Unspecified -Orphanet:91 Aromatase deficiency skos:broadMatch ICD10:E25.8 Unspecified -Orphanet:91 Aromatase deficiency skos:exactMatch UMLS:C1960539 Unspecified -Orphanet:91 Aromatase deficiency skos:exactMatch OMIM:613546 Unspecified -Orphanet:91 Aromatase deficiency skos:exactMatch UMLS:C0878680 Unspecified -Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref UMLS:C1291329 Unspecified -Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref ICD10:E74.8 Unspecified -Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref OMIM:606003 Unspecified -Orphanet:101028 Transaldolase deficiency skos:exactMatch OMIM:606003 Unspecified -Orphanet:101028 Transaldolase deficiency skos:exactMatch UMLS:C1291329 Unspecified -Orphanet:101028 Transaldolase deficiency skos:broadMatch ICD10:E74.8 Unspecified -Orphanet:2611 Linear verrucous nevus syndrome oboInOwl:hasDbXref ICD10:Q82.5 Unspecified -Orphanet:2611 Linear verrucous nevus syndrome skos:broadMatch ICD10:Q82.5 Unspecified -Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref UMLS:C0265329 Unspecified -Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref ICD10:Q85.8 Unspecified -Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref OMIM:163200 Unspecified -Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref UMLS:C3854181 Unspecified -Orphanet:2612 Linear nevus sebaceus syndrome skos:exactMatch UMLS:C0265329 Unspecified -Orphanet:2612 Linear nevus sebaceus syndrome skos:broadMatch ICD10:Q85.8 Unspecified -Orphanet:2612 Linear nevus sebaceus syndrome skos:exactMatch OMIM:163200 Unspecified -Orphanet:2612 Linear nevus sebaceus syndrome skos:exactMatch UMLS:C3854181 Unspecified -Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref OMIM:613342 Unspecified -Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref MESH:C537086 Unspecified -Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref UMLS:C2931420 Unspecified -Orphanet:2619 Brachydactylous dwarfism, Mseleni type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:2619 Brachydactylous dwarfism, Mseleni type skos:exactMatch UMLS:C2931420 Unspecified -Orphanet:2619 Brachydactylous dwarfism, Mseleni type skos:exactMatch OMIM:613342 Unspecified -Orphanet:2619 Brachydactylous dwarfism, Mseleni type skos:exactMatch MESH:C537086 Unspecified -Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref ICD10:B87.8 Unspecified -Orphanet:165958 Cavitary myiasis skos:broadMatch ICD10:B87.8 Unspecified -Orphanet:2613 Nail-patella-like renal disease oboInOwl:hasDbXref UMLS:C0403548 Unspecified -Orphanet:2613 Nail-patella-like renal disease oboInOwl:hasDbXref ICD10:N07.8 Unspecified -Orphanet:2613 Nail-patella-like renal disease oboInOwl:hasDbXref OMIM:256020 Unspecified -Orphanet:2613 Nail-patella-like renal disease skos:broadMatch ICD10:N07.8 Unspecified -Orphanet:2613 Nail-patella-like renal disease skos:exactMatch OMIM:256020 Unspecified -Orphanet:2613 Nail-patella-like renal disease skos:exactMatch UMLS:C0403548 Unspecified -Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:100070 Unspecified -Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:609782 Unspecified -Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref ICD10:I71.4 Unspecified -Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:614375 Unspecified -Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:611891 Unspecified -Orphanet:86 Familial abdominal aortic aneurysm skos:narrowMatch OMIM:609782 Unspecified -Orphanet:86 Familial abdominal aortic aneurysm skos:broadMatch ICD10:I71.4 Unspecified -Orphanet:86 Familial abdominal aortic aneurysm skos:narrowMatch OMIM:611891 Unspecified -Orphanet:86 Familial abdominal aortic aneurysm skos:narrowMatch OMIM:614375 Unspecified -Orphanet:86 Familial abdominal aortic aneurysm skos:exactMatch OMIM:100070 Unspecified -Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 Unspecified -Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas skos:broadMatch ICD10:C25.9 Unspecified -Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 Unspecified -Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref UMLS:C0348890 Unspecified -Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:614742 Unspecified -Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:609135 Unspecified -Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref MESH:C538494 Unspecified -Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:614743 Unspecified -Orphanet:88 Idiopathic aplastic anemia skos:exactMatch OMIM:609135 Unspecified -Orphanet:88 Idiopathic aplastic anemia skos:broadMatch OMIM:614743 Unspecified -Orphanet:88 Idiopathic aplastic anemia skos:exactMatch UMLS:C0348890 Unspecified -Orphanet:88 Idiopathic aplastic anemia skos:exactMatch ICD10:D61.0 Unspecified -Orphanet:88 Idiopathic aplastic anemia skos:broadMatch OMIM:614742 Unspecified -Orphanet:88 Idiopathic aplastic anemia skos:exactMatch MESH:C538494 Unspecified -Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref OMIM:612900 Unspecified -Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref OMIM:603513 Unspecified -Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref OMIM:617008 Unspecified -Orphanet:210141 Inherited congenital spastic tetraplegia skos:exactMatch OMIM:603513 Unspecified -Orphanet:210141 Inherited congenital spastic tetraplegia skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:210141 Inherited congenital spastic tetraplegia skos:narrowMatch OMIM:617008 Unspecified -Orphanet:210141 Inherited congenital spastic tetraplegia skos:narrowMatch OMIM:612900 Unspecified -Orphanet:165955 Wound myiasis oboInOwl:hasDbXref UMLS:C0344061 Unspecified -Orphanet:165955 Wound myiasis oboInOwl:hasDbXref ICD10:B87.1 Unspecified -Orphanet:165955 Wound myiasis skos:exactMatch UMLS:C0344061 Unspecified -Orphanet:165955 Wound myiasis skos:broadMatch ICD10:B87.1 Unspecified -Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency oboInOwl:hasDbXref ICD10:D68.5 Unspecified -Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency oboInOwl:hasDbXref OMIM:613118 Unspecified -Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency skos:broadMatch ICD10:D68.5 Unspecified -Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency skos:exactMatch OMIM:613118 Unspecified -Orphanet:477774 Combined oxidative phosphorylation defect type 27 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:477774 Combined oxidative phosphorylation defect type 27 oboInOwl:hasDbXref OMIM:616672 Unspecified -Orphanet:477774 Combined oxidative phosphorylation defect type 27 skos:exactMatch OMIM:616672 Unspecified -Orphanet:477774 Combined oxidative phosphorylation defect type 27 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects oboInOwl:hasDbXref ICD10:K90.8 Unspecified -Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects skos:broadMatch ICD10:K90.8 Unspecified -Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref OMIM:222470 Unspecified -Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref OMIM:614602 Unspecified -Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref UMLS:C1857276 Unspecified -Orphanet:84064 Syndromic diarrhea skos:exactMatch UMLS:C1857276 Unspecified -Orphanet:84064 Syndromic diarrhea skos:narrowMatch OMIM:614602 Unspecified -Orphanet:84064 Syndromic diarrhea skos:exactMatch OMIM:222470 Unspecified -Orphanet:506098 Neuroendocrine carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.9 Unspecified -Orphanet:506098 Neuroendocrine carcinoma of pancreas skos:broadMatch ICD10:C25.9 Unspecified -Orphanet:329967 Intermittent hydrarthrosis oboInOwl:hasDbXref ICD10:M12.4 Unspecified -Orphanet:329967 Intermittent hydrarthrosis skos:exactMatch ICD10:M12.4 Unspecified -Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref MESH:C537778 Unspecified -Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref UMLS:C2609059 Unspecified -Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref MedDRA:10068801 Unspecified -Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref ICD10:M35.8 Unspecified -Orphanet:81 Antisynthetase syndrome skos:broadMatch ICD10:M35.8 Unspecified -Orphanet:81 Antisynthetase syndrome skos:exactMatch MESH:C537778 Unspecified -Orphanet:81 Antisynthetase syndrome skos:exactMatch UMLS:C2609059 Unspecified -Orphanet:81 Antisynthetase syndrome skos:exactMatch MedDRA:10068801 Unspecified -Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach oboInOwl:hasDbXref OMIM:619182 Unspecified -Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach oboInOwl:hasDbXref ICD10:C16.9 Unspecified -Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach skos:broadMatch ICD10:C16.9 Unspecified -Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch OMIM:619182 Unspecified -Orphanet:97352 Pellagra oboInOwl:hasDbXref MESH:D010383 Unspecified -Orphanet:97352 Pellagra oboInOwl:hasDbXref MedDRA:10029400 Unspecified -Orphanet:97352 Pellagra oboInOwl:hasDbXref ICD10:E52 Unspecified -Orphanet:97352 Pellagra oboInOwl:hasDbXref UMLS:C0030783 Unspecified -Orphanet:97352 Pellagra skos:exactMatch ICD10:E52 Unspecified -Orphanet:97352 Pellagra skos:exactMatch MedDRA:10029400 Unspecified -Orphanet:97352 Pellagra skos:exactMatch UMLS:C0030783 Unspecified -Orphanet:97352 Pellagra skos:exactMatch MESH:D010383 Unspecified -Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:314029 High bone mass osteogenesis imperfecta oboInOwl:hasDbXref ICD10:Q78.0 Unspecified -Orphanet:314029 High bone mass osteogenesis imperfecta skos:broadMatch ICD10:Q78.0 Unspecified -Orphanet:97353 Dementia pugilistica oboInOwl:hasDbXref ICD10:F01.8 Unspecified -Orphanet:97353 Dementia pugilistica skos:broadMatch ICD10:F01.8 Unspecified -Orphanet:98686 Congenital trochlear nerve palsy oboInOwl:hasDbXref ICD10:H49.1 Unspecified -Orphanet:98686 Congenital trochlear nerve palsy skos:broadMatch ICD10:H49.1 Unspecified -Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref ICD10:G20+ Unspecified -Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref ICD10:F02.3* Unspecified -Orphanet:97355 Caribbean parkinsonism skos:broadMatch ICD10:F02.3* Unspecified -Orphanet:97355 Caribbean parkinsonism skos:broadMatch ICD10:G20+ Unspecified -Orphanet:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref ICD10:D68.8 Unspecified -Orphanet:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref OMIM:262850 Unspecified -Orphanet:79 Congenital alpha2-antiplasmin deficiency skos:broadMatch ICD10:D68.8 Unspecified -Orphanet:79 Congenital alpha2-antiplasmin deficiency skos:exactMatch OMIM:262850 Unspecified -Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.9 Unspecified -Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.7 Unspecified -Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.1 Unspecified -Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref MedDRA:10042254 Unspecified -Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.0 Unspecified -Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref UMLS:C0038463 Unspecified -Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref UMLS:C0085810 Unspecified -Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref MESH:D013322 Unspecified -Orphanet:76 Strongyloidiasis skos:exactMatch MedDRA:10042254 Unspecified -Orphanet:76 Strongyloidiasis skos:narrowMatch ICD10:B78.0 Unspecified -Orphanet:76 Strongyloidiasis skos:exactMatch UMLS:C0038463 Unspecified -Orphanet:76 Strongyloidiasis skos:narrowMatch ICD10:B78.1 Unspecified -Orphanet:76 Strongyloidiasis skos:narrowMatch ICD10:B78.7 Unspecified -Orphanet:76 Strongyloidiasis skos:narrowMatch ICD10:B78.9 Unspecified -Orphanet:76 Strongyloidiasis skos:exactMatch MESH:D013322 Unspecified -Orphanet:76 Strongyloidiasis skos:exactMatch UMLS:C0085810 Unspecified -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref MESH:D000724 Unspecified -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.8 Unspecified -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.0 Unspecified -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref MedDRA:10020376 Unspecified -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref MedDRA:10002255 Unspecified -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref UMLS:C0002831 Unspecified -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref UMLS:C0019911 Unspecified -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.9 Unspecified -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.1 Unspecified -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref MESH:D006725 Unspecified -Orphanet:78 Ankylostomiasis skos:exactMatch MESH:D006725 Unspecified -Orphanet:78 Ankylostomiasis skos:exactMatch UMLS:C0019911 Unspecified -Orphanet:78 Ankylostomiasis skos:narrowMatch ICD10:B76.1 Unspecified -Orphanet:78 Ankylostomiasis skos:narrowMatch ICD10:B76.9 Unspecified -Orphanet:78 Ankylostomiasis skos:exactMatch UMLS:C0002831 Unspecified -Orphanet:78 Ankylostomiasis skos:exactMatch MedDRA:10002255 Unspecified -Orphanet:78 Ankylostomiasis skos:exactMatch MedDRA:10020376 Unspecified -Orphanet:78 Ankylostomiasis skos:exactMatch MESH:D000724 Unspecified -Orphanet:78 Ankylostomiasis skos:narrowMatch ICD10:B76.0 Unspecified -Orphanet:78 Ankylostomiasis skos:narrowMatch ICD10:B76.8 Unspecified -Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref UMLS:C0795956 Unspecified -Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref ICD10:E78.6 Unspecified -Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref MESH:C535460 Unspecified -Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref OMIM:246700 Unspecified -Orphanet:71 Chylomicron retention disease skos:exactMatch OMIM:246700 Unspecified -Orphanet:71 Chylomicron retention disease skos:exactMatch UMLS:C0795956 Unspecified -Orphanet:71 Chylomicron retention disease skos:exactMatch MESH:C535460 Unspecified -Orphanet:71 Chylomicron retention disease skos:broadMatch ICD10:E78.6 Unspecified -Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref OMIM:227300 Unspecified -Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref UMLS:C1856883 Unspecified -Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref OMIM:613625 Unspecified -Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref OMIM:227310 Unspecified -Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref ICD10:D68.8 Unspecified -Orphanet:35909 Combined deficiency of factor V and factor VIII skos:exactMatch UMLS:C1856883 Unspecified -Orphanet:35909 Combined deficiency of factor V and factor VIII skos:broadMatch ICD10:D68.8 Unspecified -Orphanet:35909 Combined deficiency of factor V and factor VIII skos:narrowMatch OMIM:227310 Unspecified -Orphanet:35909 Combined deficiency of factor V and factor VIII skos:narrowMatch OMIM:613625 Unspecified -Orphanet:35909 Combined deficiency of factor V and factor VIII skos:narrowMatch OMIM:227300 Unspecified -Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref ICD10:B81.3 Unspecified -Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref MESH:C536369 Unspecified -Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref MedDRA:10069517 Unspecified -Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref ICD10:B83.2 Unspecified -Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref UMLS:C0392662 Unspecified -Orphanet:74 Angiostrongyliasis skos:narrowMatch ICD10:B81.3 Unspecified -Orphanet:74 Angiostrongyliasis skos:exactMatch UMLS:C0392662 Unspecified -Orphanet:74 Angiostrongyliasis skos:exactMatch MESH:C536369 Unspecified -Orphanet:74 Angiostrongyliasis skos:exactMatch MedDRA:10069517 Unspecified -Orphanet:74 Angiostrongyliasis skos:narrowMatch ICD10:B83.2 Unspecified -Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:253300 Unspecified -Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.0 Unspecified -Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:253550 Unspecified -Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:271150 Unspecified -Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:253400 Unspecified -Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 Unspecified -Orphanet:70 Proximal spinal muscular atrophy skos:narrowMatch OMIM:253300 Unspecified -Orphanet:70 Proximal spinal muscular atrophy skos:broadMatch ICD10:G12.0 Unspecified -Orphanet:70 Proximal spinal muscular atrophy skos:narrowMatch OMIM:271150 Unspecified -Orphanet:70 Proximal spinal muscular atrophy skos:narrowMatch OMIM:253550 Unspecified -Orphanet:70 Proximal spinal muscular atrophy skos:narrowMatch OMIM:253400 Unspecified -Orphanet:70 Proximal spinal muscular atrophy skos:broadMatch ICD10:G12.1 Unspecified -Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease oboInOwl:hasDbXref OMIM:615952 Unspecified -Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease oboInOwl:hasDbXref ICD10:M35.8 Unspecified -Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease skos:broadMatch ICD10:M35.8 Unspecified -Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease skos:exactMatch OMIM:615952 Unspecified -Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref ICD10:E70.8 Unspecified -Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref OMIM:276880 Unspecified -Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref UMLS:C0268514 Unspecified -Orphanet:210128 Urocanic aciduria skos:exactMatch OMIM:276880 Unspecified -Orphanet:210128 Urocanic aciduria skos:exactMatch UMLS:C0268514 Unspecified -Orphanet:210128 Urocanic aciduria skos:broadMatch ICD10:E70.8 Unspecified -Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent oboInOwl:hasDbXref ICD10:C92.8 Unspecified -Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:broadMatch ICD10:C92.8 Unspecified -Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref ICD10:G40.0 Unspecified -Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref UMLS:C1838062 Unspecified -Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref OMIM:600512 Unspecified -Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref OMIM:616461 Unspecified -Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref OMIM:616436 Unspecified -Orphanet:101046 Autosomal dominant epilepsy with auditory features skos:exactMatch OMIM:600512 Unspecified -Orphanet:101046 Autosomal dominant epilepsy with auditory features skos:exactMatch UMLS:C1838062 Unspecified -Orphanet:101046 Autosomal dominant epilepsy with auditory features skos:broadMatch ICD10:G40.0 Unspecified -Orphanet:101046 Autosomal dominant epilepsy with auditory features skos:narrowMatch OMIM:616461 Unspecified -Orphanet:101046 Autosomal dominant epilepsy with auditory features skos:narrowMatch OMIM:616436 Unspecified -Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:616732 Unspecified -Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:617302 Unspecified -Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:258500 Unspecified -Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:616289 Unspecified -Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref ICD10:H47.2 Unspecified -Orphanet:98676 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:616732 Unspecified -Orphanet:98676 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:617302 Unspecified -Orphanet:98676 Autosomal recessive isolated optic atrophy skos:broadMatch ICD10:H47.2 Unspecified -Orphanet:98676 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:258500 Unspecified -Orphanet:98676 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:616289 Unspecified -Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:165500 Unspecified -Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:605293 Unspecified -Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:618977 Unspecified -Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref ICD10:H47.2 Unspecified -Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:610708 Unspecified -Orphanet:98673 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:610708 Unspecified -Orphanet:98673 Autosomal dominant optic atrophy, classic form skos:broadMatch ICD10:H47.2 Unspecified -Orphanet:98673 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:618977 Unspecified -Orphanet:98673 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:165500 Unspecified -Orphanet:98673 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:605293 Unspecified -Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease oboInOwl:hasDbXref UMLS:C0006272 Unspecified -Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease oboInOwl:hasDbXref ICD10:J44.8 Unspecified -Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease oboInOwl:hasDbXref UMLS:C2350875 Unspecified -Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease skos:exactMatch UMLS:C2350875 Unspecified -Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease skos:broadMatch ICD10:J44.8 Unspecified -Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease skos:exactMatch UMLS:C0006272 Unspecified -Orphanet:314017 Idiopathic linear interstitial keratitis oboInOwl:hasDbXref ICD10:H16.3 Unspecified -Orphanet:314017 Idiopathic linear interstitial keratitis skos:broadMatch ICD10:H16.3 Unspecified -Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref MESH:D018549 Unspecified -Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref UMLS:C0242770 Unspecified -Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref ICD10:J84.1 Unspecified -Orphanet:1302 Cryptogenic organizing pneumonia skos:exactMatch MESH:D018549 Unspecified -Orphanet:1302 Cryptogenic organizing pneumonia skos:exactMatch UMLS:C0242770 Unspecified -Orphanet:1302 Cryptogenic organizing pneumonia skos:broadMatch ICD10:J84.1 Unspecified -Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.1 Unspecified -Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.2 Unspecified -Orphanet:68 Amoebiasis due to free-living amoebae skos:narrowMatch ICD10:B60.2 Unspecified -Orphanet:68 Amoebiasis due to free-living amoebae skos:narrowMatch ICD10:B60.1 Unspecified -Orphanet:1304 Brucellosis oboInOwl:hasDbXref MedDRA:10006500 Unspecified -Orphanet:1304 Brucellosis oboInOwl:hasDbXref MESH:D002006 Unspecified -Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.8 Unspecified -Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.2 Unspecified -Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.0 Unspecified -Orphanet:1304 Brucellosis oboInOwl:hasDbXref UMLS:C0006309 Unspecified -Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.9 Unspecified -Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.1 Unspecified -Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.3 Unspecified -Orphanet:1304 Brucellosis skos:narrowMatch ICD10:A23.9 Unspecified -Orphanet:1304 Brucellosis skos:narrowMatch ICD10:A23.3 Unspecified -Orphanet:1304 Brucellosis skos:narrowMatch ICD10:A23.1 Unspecified -Orphanet:1304 Brucellosis skos:exactMatch MedDRA:10006500 Unspecified -Orphanet:1304 Brucellosis skos:exactMatch MESH:D002006 Unspecified -Orphanet:1304 Brucellosis skos:narrowMatch ICD10:A23.8 Unspecified -Orphanet:1304 Brucellosis skos:narrowMatch ICD10:A23.2 Unspecified -Orphanet:1304 Brucellosis skos:narrowMatch ICD10:A23.0 Unspecified -Orphanet:1304 Brucellosis skos:exactMatch UMLS:C0006309 Unspecified -Orphanet:324299 Multiple paragangliomas associated with polycythemia oboInOwl:hasDbXref ICD10:D75.1 Unspecified -Orphanet:324299 Multiple paragangliomas associated with polycythemia skos:broadMatch ICD10:D75.1 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:612712 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:611755 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:604232 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:204100 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:608553 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref MESH:D057130 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:604537 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:604393 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613843 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613829 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:615360 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref UMLS:C0339527 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:179900 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:618513 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613837 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613835 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613826 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:614186 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:204000 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:610612 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref MedDRA:10070667 Unspecified -Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613341 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:615360 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:613829 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:613843 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:604393 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:204100 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:604537 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:612712 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:604232 Unspecified -Orphanet:65 Leber congenital amaurosis skos:exactMatch OMIM:204000 Unspecified -Orphanet:65 Leber congenital amaurosis skos:exactMatch MedDRA:10070667 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:608553 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:611755 Unspecified -Orphanet:65 Leber congenital amaurosis skos:exactMatch MESH:D057130 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:614186 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:613826 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:613835 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:613837 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:618513 Unspecified -Orphanet:65 Leber congenital amaurosis skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:613341 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:610612 Unspecified -Orphanet:65 Leber congenital amaurosis skos:narrowMatch OMIM:179900 Unspecified -Orphanet:65 Leber congenital amaurosis skos:exactMatch UMLS:C0339527 Unspecified -Orphanet:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref ICD10:G21.3 Unspecified -Orphanet:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref UMLS:C0030568 Unspecified -Orphanet:97349 Postencephalitic parkinsonism skos:exactMatch ICD10:G21.3 Unspecified -Orphanet:97349 Postencephalitic parkinsonism skos:exactMatch UMLS:C0030568 Unspecified -Orphanet:2635 Metatropic dysplasia oboInOwl:hasDbXref MESH:C537356 Unspecified -Orphanet:2635 Metatropic dysplasia oboInOwl:hasDbXref OMIM:156530 Unspecified -Orphanet:2635 Metatropic dysplasia oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:2635 Metatropic dysplasia oboInOwl:hasDbXref UMLS:C0265281 Unspecified -Orphanet:2635 Metatropic dysplasia skos:exactMatch OMIM:156530 Unspecified -Orphanet:2635 Metatropic dysplasia skos:exactMatch UMLS:C0265281 Unspecified -Orphanet:2635 Metatropic dysplasia skos:exactMatch MESH:C537356 Unspecified -Orphanet:2635 Metatropic dysplasia skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:64 Alström syndrome oboInOwl:hasDbXref MESH:D056769 Unspecified -Orphanet:64 Alström syndrome oboInOwl:hasDbXref MedDRA:10068783 Unspecified -Orphanet:64 Alström syndrome oboInOwl:hasDbXref ICD10:E34.8 Unspecified -Orphanet:64 Alström syndrome oboInOwl:hasDbXref UMLS:C0268425 Unspecified -Orphanet:64 Alström syndrome oboInOwl:hasDbXref OMIM:203800 Unspecified -Orphanet:64 Alström syndrome skos:exactMatch MESH:D056769 Unspecified -Orphanet:64 Alström syndrome skos:exactMatch MedDRA:10068783 Unspecified -Orphanet:64 Alström syndrome skos:broadMatch ICD10:E34.8 Unspecified -Orphanet:64 Alström syndrome skos:exactMatch OMIM:203800 Unspecified -Orphanet:64 Alström syndrome skos:exactMatch UMLS:C0268425 Unspecified -Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618307 Unspecified -Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis skos:exactMatch OMIM:618307 Unspecified -Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.0 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.2 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.8 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.4 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.6 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref UMLS:C2930799 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.1 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.3 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.9 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.5 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.7 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref MESH:C531613 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:exactMatch UMLS:C2930799 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:narrowMatch ICD10:A06.4 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:narrowMatch ICD10:A06.2 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:narrowMatch ICD10:A06.0 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:narrowMatch ICD10:A06.8 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:narrowMatch ICD10:A06.6 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:exactMatch MESH:C531613 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:narrowMatch ICD10:A06.5 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:narrowMatch ICD10:A06.3 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:narrowMatch ICD10:A06.1 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:narrowMatch ICD10:A06.9 Unspecified -Orphanet:67 Amoebiasis due to Entamoeba histolytica skos:narrowMatch ICD10:A06.7 Unspecified -Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref OMIM:248500 Unspecified -Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref MESH:D008363 Unspecified -Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref ICD10:E77.1 Unspecified -Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref UMLS:C0024748 Unspecified -Orphanet:61 Alpha-mannosidosis skos:broadMatch ICD10:E77.1 Unspecified -Orphanet:61 Alpha-mannosidosis skos:exactMatch UMLS:C0024748 Unspecified -Orphanet:61 Alpha-mannosidosis skos:exactMatch OMIM:248500 Unspecified -Orphanet:61 Alpha-mannosidosis skos:exactMatch MESH:D008363 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref OMIM:613490 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref UMLS:C3501835 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MedDRA:10001806 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref ICD10:E88.0 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref UMLS:C0221757 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MESH:C531610 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MESH:D019896 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency skos:exactMatch UMLS:C0221757 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency skos:exactMatch MESH:D019896 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency skos:exactMatch MESH:C531610 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency skos:broadMatch ICD10:E88.0 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency skos:exactMatch UMLS:C3501835 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency skos:exactMatch MedDRA:10001806 Unspecified -Orphanet:60 Alpha-1-antitrypsin deficiency skos:exactMatch OMIM:613490 Unspecified -Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref UMLS:C2677362 Unspecified -Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref OMIM:265380 Unspecified -Orphanet:210122 Congenital alveolar capillary dysplasia skos:exactMatch OMIM:265380 Unspecified -Orphanet:210122 Congenital alveolar capillary dysplasia skos:exactMatch UMLS:C2677362 Unspecified -Orphanet:63 Alport syndrome oboInOwl:hasDbXref MESH:D009394 Unspecified -Orphanet:63 Alport syndrome oboInOwl:hasDbXref OMIM:203780 Unspecified -Orphanet:63 Alport syndrome oboInOwl:hasDbXref MedDRA:10001843 Unspecified -Orphanet:63 Alport syndrome oboInOwl:hasDbXref UMLS:C1567741 Unspecified -Orphanet:63 Alport syndrome oboInOwl:hasDbXref OMIM:104200 Unspecified -Orphanet:63 Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:63 Alport syndrome oboInOwl:hasDbXref OMIM:301050 Unspecified -Orphanet:63 Alport syndrome skos:narrowMatch OMIM:203780 Unspecified -Orphanet:63 Alport syndrome skos:exactMatch UMLS:C1567741 Unspecified -Orphanet:63 Alport syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:63 Alport syndrome skos:narrowMatch OMIM:301050 Unspecified -Orphanet:63 Alport syndrome skos:exactMatch MedDRA:10001843 Unspecified -Orphanet:63 Alport syndrome skos:exactMatch MESH:D009394 Unspecified -Orphanet:63 Alport syndrome skos:narrowMatch OMIM:104200 Unspecified -Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref UMLS:C2936332 Unspecified -Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref OMIM:608099 Unspecified -Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref UMLS:C1842550 Unspecified -Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 skos:exactMatch UMLS:C1842550 Unspecified -Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 skos:exactMatch OMIM:608099 Unspecified -Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 skos:exactMatch UMLS:C2936332 Unspecified -Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref UMLS:C1867982 Unspecified -Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref OMIM:175860 Unspecified -Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:79502 Punctate palmoplantar keratoderma type 2 skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:79502 Punctate palmoplantar keratoderma type 2 skos:exactMatch UMLS:C1867982 Unspecified -Orphanet:79502 Punctate palmoplantar keratoderma type 2 skos:exactMatch OMIM:175860 Unspecified -Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 Unspecified -Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref OMIM:618564 Unspecified -Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy skos:exactMatch OMIM:618564 Unspecified -Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy skos:broadMatch ICD10:I67.8 Unspecified -Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref OMIM:148600 Unspecified -Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref OMIM:614936 Unspecified -Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:79501 Punctate palmoplantar keratoderma type 1 skos:narrowMatch OMIM:614936 Unspecified -Orphanet:79501 Punctate palmoplantar keratoderma type 1 skos:narrowMatch OMIM:148600 Unspecified -Orphanet:79501 Punctate palmoplantar keratoderma type 1 skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref UMLS:C0795910 Unspecified -Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref OMIM:310490 Unspecified -Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 skos:exactMatch UMLS:C0795910 Unspecified -Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 skos:exactMatch OMIM:310490 Unspecified -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref ICD10:Q80.8 Unspecified -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref UMLS:C1840296 Unspecified -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref MESH:C536088 Unspecified -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref OMIM:146590 Unspecified -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref UMLS:C0432307 Unspecified -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin skos:exactMatch OMIM:146590 Unspecified -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin skos:broadMatch ICD10:Q80.8 Unspecified -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin skos:exactMatch UMLS:C0432307 Unspecified -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin skos:exactMatch MESH:C536088 Unspecified -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin skos:exactMatch UMLS:C1840296 Unspecified -Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref OMIM:302802 Unspecified -Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref UMLS:C1844865 Unspecified -Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 skos:exactMatch UMLS:C1844865 Unspecified -Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 skos:exactMatch OMIM:302802 Unspecified -Orphanet:79506 Cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref OMIM:614028 Unspecified -Orphanet:79506 Cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref OMIM:143470 Unspecified -Orphanet:79506 Cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref ICD10:E78.4 Unspecified -Orphanet:79506 Cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref UMLS:C0342883 Unspecified -Orphanet:79506 Cholesterol-ester transfer protein deficiency skos:narrowMatch OMIM:614028 Unspecified -Orphanet:79506 Cholesterol-ester transfer protein deficiency skos:exactMatch UMLS:C0342883 Unspecified -Orphanet:79506 Cholesterol-ester transfer protein deficiency skos:exactMatch OMIM:143470 Unspecified -Orphanet:79506 Cholesterol-ester transfer protein deficiency skos:broadMatch ICD10:E78.4 Unspecified -Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS:C1844873 Unspecified -Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:302801 Unspecified -Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 skos:exactMatch OMIM:302801 Unspecified -Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 skos:exactMatch UMLS:C1844873 Unspecified -Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref MESH:C535919 Unspecified -Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref OMIM:302800 Unspecified -Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref UMLS:C0393808 Unspecified -Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 skos:exactMatch UMLS:C0393808 Unspecified -Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 skos:exactMatch OMIM:302800 Unspecified -Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 skos:exactMatch MESH:C535919 Unspecified -Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:58 Alexander disease oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:58 Alexander disease oboInOwl:hasDbXref UMLS:C0270726 Unspecified -Orphanet:58 Alexander disease oboInOwl:hasDbXref OMIM:203450 Unspecified -Orphanet:58 Alexander disease oboInOwl:hasDbXref MESH:D038261 Unspecified -Orphanet:58 Alexander disease skos:exactMatch MESH:D038261 Unspecified -Orphanet:58 Alexander disease skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:58 Alexander disease skos:exactMatch UMLS:C0270726 Unspecified -Orphanet:58 Alexander disease skos:exactMatch OMIM:203450 Unspecified -Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref OMIM:602107 Unspecified -Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref UMLS:C1865856 Unspecified -Orphanet:84093 Hereditary thermosensitive neuropathy skos:exactMatch UMLS:C1865856 Unspecified -Orphanet:84093 Hereditary thermosensitive neuropathy skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:84093 Hereditary thermosensitive neuropathy skos:exactMatch OMIM:602107 Unspecified -Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref UMLS:C0272066 Unspecified -Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref OMIM:611881 Unspecified -Orphanet:57 Glycogen storage disease due to aldolase A deficiency skos:exactMatch OMIM:611881 Unspecified -Orphanet:57 Glycogen storage disease due to aldolase A deficiency skos:exactMatch UMLS:C0272066 Unspecified -Orphanet:57 Glycogen storage disease due to aldolase A deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref OMIM:300523 Unspecified -Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref MESH:C537047 Unspecified -Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref UMLS:C0795889 Unspecified -Orphanet:59 Allan-Herndon-Dudley syndrome skos:exactMatch MESH:C537047 Unspecified -Orphanet:59 Allan-Herndon-Dudley syndrome skos:exactMatch UMLS:C0795889 Unspecified -Orphanet:59 Allan-Herndon-Dudley syndrome skos:exactMatch OMIM:300523 Unspecified -Orphanet:59 Allan-Herndon-Dudley syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref OMIM:300500 Unspecified -Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref MESH:C537863 Unspecified -Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref UMLS:C0342684 Unspecified -Orphanet:54 X-linked recessive ocular albinism skos:exactMatch UMLS:C0342684 Unspecified -Orphanet:54 X-linked recessive ocular albinism skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:54 X-linked recessive ocular albinism skos:exactMatch OMIM:300500 Unspecified -Orphanet:54 X-linked recessive ocular albinism skos:exactMatch MESH:C537863 Unspecified -Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref OMIM:137950 Unspecified -Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref UMLS:C1866075 Unspecified -Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref ICD10:N07.6 Unspecified -Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref UMLS:C3888104 Unspecified -Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref OMIM:601894 Unspecified -Orphanet:84090 Fibronectin glomerulopathy skos:exactMatch UMLS:C3888104 Unspecified -Orphanet:84090 Fibronectin glomerulopathy skos:exactMatch OMIM:137950 Unspecified -Orphanet:84090 Fibronectin glomerulopathy skos:narrowMatch OMIM:601894 Unspecified -Orphanet:84090 Fibronectin glomerulopathy skos:exactMatch UMLS:C1866075 Unspecified -Orphanet:84090 Fibronectin glomerulopathy skos:broadMatch ICD10:N07.6 Unspecified -Orphanet:56 Alkaptonuria oboInOwl:hasDbXref ICD10:E70.2 Unspecified -Orphanet:56 Alkaptonuria oboInOwl:hasDbXref MESH:C537862 Unspecified -Orphanet:56 Alkaptonuria oboInOwl:hasDbXref OMIM:203500 Unspecified -Orphanet:56 Alkaptonuria oboInOwl:hasDbXref MedDRA:10001689 Unspecified -Orphanet:56 Alkaptonuria oboInOwl:hasDbXref UMLS:C2931645 Unspecified -Orphanet:56 Alkaptonuria oboInOwl:hasDbXref UMLS:C0002066 Unspecified -Orphanet:56 Alkaptonuria oboInOwl:hasDbXref MESH:D000474 Unspecified -Orphanet:56 Alkaptonuria skos:exactMatch MedDRA:10001689 Unspecified -Orphanet:56 Alkaptonuria skos:exactMatch UMLS:C2931645 Unspecified -Orphanet:56 Alkaptonuria skos:exactMatch OMIM:203500 Unspecified -Orphanet:56 Alkaptonuria skos:exactMatch UMLS:C0002066 Unspecified -Orphanet:56 Alkaptonuria skos:exactMatch MESH:D000474 Unspecified -Orphanet:56 Alkaptonuria skos:broadMatch ICD10:E70.2 Unspecified -Orphanet:56 Alkaptonuria skos:exactMatch MESH:C537862 Unspecified -Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref MESH:D058540 Unspecified -Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref MedDRA:10054935 Unspecified -Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref ICD10:Q04.0 Unspecified -Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref OMIM:304050 Unspecified -Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref UMLS:C0175713 Unspecified -Orphanet:50 Aicardi syndrome skos:exactMatch MedDRA:10054935 Unspecified -Orphanet:50 Aicardi syndrome skos:exactMatch UMLS:C0175713 Unspecified -Orphanet:50 Aicardi syndrome skos:exactMatch OMIM:304050 Unspecified -Orphanet:50 Aicardi syndrome skos:broadMatch ICD10:Q04.0 Unspecified -Orphanet:50 Aicardi syndrome skos:exactMatch MESH:D058540 Unspecified -Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref UMLS:C3279662 Unspecified -Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref OMIM:614037 Unspecified -Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch OMIM:614037 Unspecified -Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch UMLS:C3279662 Unspecified -Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.1 Unspecified -Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.3 Unspecified -Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.0 Unspecified -Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.2 Unspecified -Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.8 Unspecified -Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:615010 Unspecified -Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:612952 Unspecified -Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:610329 Unspecified -Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:114100 Unspecified -Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:225750 Unspecified -Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:610181 Unspecified -Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:610333 Unspecified -Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref MESH:C535607 Unspecified -Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:615846 Unspecified -Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref UMLS:C0393591 Unspecified -Orphanet:51 Aicardi-Goutières syndrome skos:exactMatch MESH:C535607 Unspecified -Orphanet:51 Aicardi-Goutières syndrome skos:exactMatch UMLS:C0393591 Unspecified -Orphanet:51 Aicardi-Goutières syndrome skos:narrowMatch OMIM:114100 Unspecified -Orphanet:51 Aicardi-Goutières syndrome skos:narrowMatch OMIM:225750 Unspecified -Orphanet:51 Aicardi-Goutières syndrome skos:narrowMatch OMIM:615010 Unspecified -Orphanet:51 Aicardi-Goutières syndrome skos:narrowMatch OMIM:610329 Unspecified -Orphanet:51 Aicardi-Goutières syndrome skos:narrowMatch OMIM:610181 Unspecified -Orphanet:51 Aicardi-Goutières syndrome skos:narrowMatch OMIM:612952 Unspecified -Orphanet:51 Aicardi-Goutières syndrome skos:narrowMatch OMIM:610333 Unspecified -Orphanet:51 Aicardi-Goutières syndrome skos:narrowMatch OMIM:615846 Unspecified -Orphanet:51 Aicardi-Goutières syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref OMIM:612852 Unspecified -Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref UMLS:C2748507 Unspecified -Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch UMLS:C2748507 Unspecified -Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch OMIM:612852 Unspecified -Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:477738 Pediatric multiple sclerosis oboInOwl:hasDbXref ICD10:G35 Unspecified -Orphanet:477738 Pediatric multiple sclerosis skos:broadMatch ICD10:G35 Unspecified -Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref UMLS:C1864738 Unspecified -Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref OMIM:610048 Unspecified -Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:101068 Congenital stromal corneal dystrophy skos:exactMatch UMLS:C1864738 Unspecified -Orphanet:101068 Congenital stromal corneal dystrophy skos:exactMatch OMIM:610048 Unspecified -Orphanet:101068 Congenital stromal corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome oboInOwl:hasDbXref ICD10:Q74.3 Unspecified -Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:broadMatch ICD10:Q74.3 Unspecified -Orphanet:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref UMLS:C0268126 Unspecified -Orphanet:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref OMIM:103050 Unspecified -Orphanet:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref MESH:C538235 Unspecified -Orphanet:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:46 Adenylosuccinate lyase deficiency skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:46 Adenylosuccinate lyase deficiency skos:exactMatch MESH:C538235 Unspecified -Orphanet:46 Adenylosuccinate lyase deficiency skos:exactMatch OMIM:103050 Unspecified -Orphanet:46 Adenylosuccinate lyase deficiency skos:exactMatch UMLS:C0268126 Unspecified -Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome oboInOwl:hasDbXref OMIM:212550 Unspecified -Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome oboInOwl:hasDbXref ICD10:Q14.8 Unspecified -Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch OMIM:212550 Unspecified -Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:broadMatch ICD10:Q14.8 Unspecified -Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref ICD10:M35.8 Unspecified -Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref UMLS:C2676285 Unspecified -Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref OMIM:612394 Unspecified -Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency skos:exactMatch OMIM:612394 Unspecified -Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency skos:exactMatch UMLS:C2676285 Unspecified -Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency skos:broadMatch ICD10:M35.8 Unspecified -Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 Unspecified -Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref UMLS:C2931293 Unspecified -Orphanet:370131 White platelet syndrome skos:exactMatch UMLS:C2931293 Unspecified -Orphanet:370131 White platelet syndrome skos:broadMatch ICD10:D69.1 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref MedDRA:10051260 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref OMIM:302700 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref MESH:D000326 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref UMLS:C0162309 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy skos:narrowMatch OMIM:302700 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy skos:exactMatch UMLS:C0162309 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy skos:exactMatch MedDRA:10051260 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy skos:exactMatch OMIM:300100 Unspecified -Orphanet:43 X-linked adrenoleukodystrophy skos:exactMatch MESH:D000326 Unspecified -Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536038 Unspecified -Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0220710 Unspecified -Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201450 Unspecified -Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201450 Unspecified -Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0220710 Unspecified -Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch MESH:C536038 Unspecified -Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref OMIM:615511 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref MESH:C538234 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref UMLS:C2931781 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref UMLS:C0268123 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref OMIM:612874 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency skos:narrowMatch OMIM:615511 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency skos:exactMatch UMLS:C0268123 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency skos:exactMatch OMIM:612874 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency skos:exactMatch MESH:C538234 Unspecified -Orphanet:45 Adenosine monophosphate deaminase deficiency skos:exactMatch UMLS:C2931781 Unspecified -Orphanet:435934 COG2-CDG oboInOwl:hasDbXref OMIM:617395 Unspecified -Orphanet:435934 COG2-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:435934 COG2-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:435934 COG2-CDG skos:exactMatch OMIM:617395 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:601539 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref UMLS:C0282525 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:202370 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref MESH:D018901 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614885 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:266510 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614863 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614867 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:617370 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614920 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614873 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614871 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614877 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614877 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614873 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614871 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:exactMatch MESH:D018901 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:broadMatch OMIM:601539 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614885 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:266510 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614920 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:exactMatch UMLS:C0282525 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:broadMatch OMIM:617370 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614863 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614867 Unspecified -Orphanet:44 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:202370 Unspecified -Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10:F78.1 Unspecified -Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:300114 Unspecified -Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome skos:broadMatch ICD10:F78.1 Unspecified -Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome skos:exactMatch OMIM:300114 Unspecified -Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref UMLS:C0406775 Unspecified -Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref MESH:C535729 Unspecified -Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref OMIM:127400 Unspecified -Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref ICD10:L81.8 Unspecified -Orphanet:41 Dyschromatosis symmetrica hereditaria skos:exactMatch OMIM:127400 Unspecified -Orphanet:41 Dyschromatosis symmetrica hereditaria skos:exactMatch UMLS:C0406775 Unspecified -Orphanet:41 Dyschromatosis symmetrica hereditaria skos:broadMatch ICD10:L81.8 Unspecified -Orphanet:41 Dyschromatosis symmetrica hereditaria skos:exactMatch MESH:C535729 Unspecified -Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref UMLS:C0029172 Unspecified -Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref ICD10:K13.5 Unspecified -Orphanet:357154 Oral submucous fibrosis skos:exactMatch UMLS:C0029172 Unspecified -Orphanet:357154 Oral submucous fibrosis skos:exactMatch ICD10:K13.5 Unspecified -Orphanet:464453 Acquired methemoglobinemia oboInOwl:hasDbXref ICD10:D74.8 Unspecified -Orphanet:464453 Acquired methemoglobinemia skos:broadMatch ICD10:D74.8 Unspecified -Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref MedDRA:10054329 Unspecified -Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref UMLS:C0553669 Unspecified -Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref UMLS:C0002893 Unspecified -Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref ICD10:D46.7 Unspecified -Orphanet:101096 Aregenerative anemia skos:exactMatch UMLS:C0553669 Unspecified -Orphanet:101096 Aregenerative anemia skos:exactMatch UMLS:C0002893 Unspecified -Orphanet:101096 Aregenerative anemia skos:broadMatch ICD10:D46.7 Unspecified -Orphanet:101096 Aregenerative anemia skos:exactMatch MedDRA:10054329 Unspecified -Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref UMLS:C1865181 Unspecified -Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref OMIM:602562 Unspecified -Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref ICD10:Q87.0 Unspecified -Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch UMLS:C1865181 Unspecified -Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:broadMatch ICD10:Q87.0 Unspecified -Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch OMIM:602562 Unspecified -Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref UMLS:C1842983 Unspecified -Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref OMIM:607831 Unspecified -Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref OMIM:607706 Unspecified -Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness skos:exactMatch UMLS:C1842983 Unspecified -Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness skos:narrowMatch OMIM:607706 Unspecified -Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness skos:narrowMatch OMIM:607831 Unspecified -Orphanet:39 Acromelanosis oboInOwl:hasDbXref ICD10:L81.4 Unspecified -Orphanet:39 Acromelanosis oboInOwl:hasDbXref UMLS:C0406779 Unspecified -Orphanet:39 Acromelanosis skos:exactMatch UMLS:C0406779 Unspecified -Orphanet:39 Acromelanosis skos:broadMatch ICD10:L81.4 Unspecified -Orphanet:370127 Medich giant platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 Unspecified -Orphanet:370127 Medich giant platelet syndrome skos:broadMatch ICD10:D69.1 Unspecified -Orphanet:35 Propionic acidemia oboInOwl:hasDbXref UMLS:C0268579 Unspecified -Orphanet:35 Propionic acidemia oboInOwl:hasDbXref OMIM:606054 Unspecified -Orphanet:35 Propionic acidemia oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:35 Propionic acidemia oboInOwl:hasDbXref MESH:D056693 Unspecified -Orphanet:35 Propionic acidemia oboInOwl:hasDbXref UMLS:C2717876 Unspecified -Orphanet:35 Propionic acidemia oboInOwl:hasDbXref UMLS:C0311298 Unspecified -Orphanet:35 Propionic acidemia skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:35 Propionic acidemia skos:exactMatch UMLS:C2717876 Unspecified -Orphanet:35 Propionic acidemia skos:exactMatch UMLS:C0311298 Unspecified -Orphanet:35 Propionic acidemia skos:exactMatch MESH:D056693 Unspecified -Orphanet:35 Propionic acidemia skos:exactMatch UMLS:C0268579 Unspecified -Orphanet:35 Propionic acidemia skos:exactMatch OMIM:606054 Unspecified -Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref UMLS:C0545044 Unspecified -Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref MESH:C535653 Unspecified -Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref OMIM:101850 Unspecified -Orphanet:38 Acrokeratoelastoidosis of Costa skos:exactMatch MESH:C535653 Unspecified -Orphanet:38 Acrokeratoelastoidosis of Costa skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:38 Acrokeratoelastoidosis of Costa skos:exactMatch OMIM:101850 Unspecified -Orphanet:38 Acrokeratoelastoidosis of Costa skos:exactMatch UMLS:C0545044 Unspecified -Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref UMLS:C0221036 Unspecified -Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref OMIM:201100 Unspecified -Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref ICD10:E83.2 Unspecified -Orphanet:37 Acrodermatitis enteropathica skos:broadMatch ICD10:E83.2 Unspecified -Orphanet:37 Acrodermatitis enteropathica skos:exactMatch UMLS:C0221036 Unspecified -Orphanet:37 Acrodermatitis enteropathica skos:exactMatch OMIM:201100 Unspecified -Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref OMIM:231900 Unspecified -Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref UMLS:C0398746 Unspecified -Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref ICD10:D55.1 Unspecified -Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref OMIM:266130 Unspecified -Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref UMLS:C1291643 Unspecified -Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref MESH:C536835 Unspecified -Orphanet:32 Glutathione synthetase deficiency skos:narrowMatch OMIM:266130 Unspecified -Orphanet:32 Glutathione synthetase deficiency skos:exactMatch UMLS:C1291643 Unspecified -Orphanet:32 Glutathione synthetase deficiency skos:exactMatch MESH:C536835 Unspecified -Orphanet:32 Glutathione synthetase deficiency skos:broadMatch ICD10:D55.1 Unspecified -Orphanet:32 Glutathione synthetase deficiency skos:exactMatch UMLS:C0398746 Unspecified -Orphanet:32 Glutathione synthetase deficiency skos:narrowMatch OMIM:231900 Unspecified -Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref OMIM:614480 Unspecified -Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref ICD10:K76.0 Unspecified -Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis skos:exactMatch OMIM:614480 Unspecified -Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis skos:broadMatch ICD10:K76.0 Unspecified -Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref MESH:C536582 Unspecified -Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref UMLS:C2752074 Unspecified -Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref OMIM:203740 Unspecified -Orphanet:31 Oxoglutaric aciduria skos:exactMatch OMIM:203740 Unspecified -Orphanet:31 Oxoglutaric aciduria skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:31 Oxoglutaric aciduria skos:exactMatch UMLS:C2752074 Unspecified -Orphanet:31 Oxoglutaric aciduria skos:exactMatch MESH:C536582 Unspecified -Orphanet:33 Isovaleric acidemia oboInOwl:hasDbXref OMIM:243500 Unspecified -Orphanet:33 Isovaleric acidemia oboInOwl:hasDbXref MESH:C538167 Unspecified -Orphanet:33 Isovaleric acidemia oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:33 Isovaleric acidemia oboInOwl:hasDbXref UMLS:C0268575 Unspecified -Orphanet:33 Isovaleric acidemia skos:exactMatch UMLS:C0268575 Unspecified -Orphanet:33 Isovaleric acidemia skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:33 Isovaleric acidemia skos:exactMatch OMIM:243500 Unspecified -Orphanet:33 Isovaleric acidemia skos:exactMatch MESH:C538167 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref UMLS:C0238198 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref OMIM:175510 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref OMIM:606764 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref MESH:D046152 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref ICD10:C26.9 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref UMLS:C3179349 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref MedDRA:10051066 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor skos:exactMatch UMLS:C3179349 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor skos:narrowMatch OMIM:175510 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor skos:exactMatch MedDRA:10051066 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor skos:exactMatch OMIM:606764 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor skos:exactMatch MESH:D046152 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor skos:exactMatch UMLS:C0238198 Unspecified -Orphanet:44890 Gastrointestinal stromal tumor skos:broadMatch ICD10:C26.9 Unspecified -Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref UMLS:C0268130 Unspecified -Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref UMLS:C0220987 Unspecified -Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref OMIM:258900 Unspecified -Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref MedDRA:10052621 Unspecified -Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref MESH:C537136 Unspecified -Orphanet:30 Hereditary orotic aciduria skos:exactMatch MESH:C537136 Unspecified -Orphanet:30 Hereditary orotic aciduria skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:30 Hereditary orotic aciduria skos:exactMatch OMIM:258900 Unspecified -Orphanet:30 Hereditary orotic aciduria skos:exactMatch MedDRA:10052621 Unspecified -Orphanet:30 Hereditary orotic aciduria skos:exactMatch UMLS:C0268130 Unspecified -Orphanet:30 Hereditary orotic aciduria skos:exactMatch UMLS:C0220987 Unspecified -Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref ICD10:D56.2 Unspecified -Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref MedDRA:10012236 Unspecified -Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref UMLS:C0271985 Unspecified -Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref OMIM:141749 Unspecified -Orphanet:231237 Delta-beta-thalassemia skos:exactMatch MedDRA:10012236 Unspecified -Orphanet:231237 Delta-beta-thalassemia skos:exactMatch UMLS:C0271985 Unspecified -Orphanet:231237 Delta-beta-thalassemia skos:exactMatch ICD10:D56.2 Unspecified -Orphanet:231237 Delta-beta-thalassemia skos:broadMatch OMIM:141749 Unspecified -Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref ICD10:D64.0 Unspecified -Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref OMIM:615234 Unspecified -Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts skos:exactMatch OMIM:615234 Unspecified -Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts skos:broadMatch ICD10:D64.0 Unspecified -Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref MESH:C535737 Unspecified -Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref UMLS:C1865349 Unspecified -Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref OMIM:602473 Unspecified -Orphanet:51188 Ethylmalonic encephalopathy skos:exactMatch OMIM:602473 Unspecified -Orphanet:51188 Ethylmalonic encephalopathy skos:exactMatch UMLS:C1865349 Unspecified -Orphanet:51188 Ethylmalonic encephalopathy skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:51188 Ethylmalonic encephalopathy skos:exactMatch MESH:C535737 Unspecified -Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref MedDRA:10029235 Unspecified -Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref ICD10:D36.1 Unspecified -Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref UMLS:C0027809 Unspecified -Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref MedDRA:10029234 Unspecified -Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref UMLS:C0854906 Unspecified -Orphanet:252164 Benign schwannoma skos:exactMatch UMLS:C0854906 Unspecified -Orphanet:252164 Benign schwannoma skos:exactMatch MedDRA:10029234 Unspecified -Orphanet:252164 Benign schwannoma skos:exactMatch UMLS:C0027809 Unspecified -Orphanet:252164 Benign schwannoma skos:exactMatch MedDRA:10029235 Unspecified -Orphanet:252164 Benign schwannoma skos:broadMatch ICD10:D36.1 Unspecified -Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 Unspecified -Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome skos:broadMatch ICD10:D58.2 Unspecified -Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref OMIM:607734 Unspecified -Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref UMLS:C1843164 Unspecified -Orphanet:101085 Charcot-Marie-Tooth disease type 1F skos:broadMatch OMIM:607734 Unspecified -Orphanet:101085 Charcot-Marie-Tooth disease type 1F skos:exactMatch UMLS:C1843164 Unspecified -Orphanet:101085 Charcot-Marie-Tooth disease type 1F skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:464443 COG6-CGD oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:464443 COG6-CGD oboInOwl:hasDbXref OMIM:614576 Unspecified -Orphanet:464443 COG6-CGD skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:464443 COG6-CGD skos:exactMatch OMIM:614576 Unspecified -Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref OMIM:607678 Unspecified -Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref MESH:C537985 Unspecified -Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref UMLS:C1843247 Unspecified -Orphanet:101084 Charcot-Marie-Tooth disease type 1D skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:101084 Charcot-Marie-Tooth disease type 1D skos:exactMatch UMLS:C1843247 Unspecified -Orphanet:101084 Charcot-Marie-Tooth disease type 1D skos:exactMatch MESH:C537985 Unspecified -Orphanet:101084 Charcot-Marie-Tooth disease type 1D skos:exactMatch OMIM:607678 Unspecified -Orphanet:464440 Primary dystonia, DYT27 type oboInOwl:hasDbXref OMIM:616411 Unspecified -Orphanet:464440 Primary dystonia, DYT27 type oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:464440 Primary dystonia, DYT27 type skos:exactMatch OMIM:616411 Unspecified -Orphanet:464440 Primary dystonia, DYT27 type skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref OMIM:118220 Unspecified -Orphanet:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref UMLS:C0270911 Unspecified -Orphanet:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101081 Charcot-Marie-Tooth disease type 1A skos:exactMatch UMLS:C0270911 Unspecified -Orphanet:101081 Charcot-Marie-Tooth disease type 1A skos:exactMatch OMIM:118220 Unspecified -Orphanet:101081 Charcot-Marie-Tooth disease type 1A skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:251110 Unspecified -Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:251100 Unspecified -Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:277410 Unspecified -Orphanet:28 Vitamin B12-responsive methylmalonic acidemia skos:narrowMatch OMIM:251110 Unspecified -Orphanet:28 Vitamin B12-responsive methylmalonic acidemia skos:narrowMatch OMIM:251100 Unspecified -Orphanet:28 Vitamin B12-responsive methylmalonic acidemia skos:narrowMatch OMIM:277410 Unspecified -Orphanet:28 Vitamin B12-responsive methylmalonic acidemia skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref MESH:C537984 Unspecified -Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref UMLS:C0270913 Unspecified -Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref OMIM:601098 Unspecified -Orphanet:101083 Charcot-Marie-Tooth disease type 1C skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:101083 Charcot-Marie-Tooth disease type 1C skos:exactMatch MESH:C537984 Unspecified -Orphanet:101083 Charcot-Marie-Tooth disease type 1C skos:exactMatch OMIM:601098 Unspecified -Orphanet:101083 Charcot-Marie-Tooth disease type 1C skos:exactMatch UMLS:C0270913 Unspecified -Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref UMLS:C0270912 Unspecified -Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref OMIM:118200 Unspecified -Orphanet:101082 Charcot-Marie-Tooth disease type 1B skos:exactMatch OMIM:118200 Unspecified -Orphanet:101082 Charcot-Marie-Tooth disease type 1B skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:101082 Charcot-Marie-Tooth disease type 1B skos:exactMatch UMLS:C0270912 Unspecified -Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.3 Unspecified -Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536833 Unspecified -Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268595 Unspecified -Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231670 Unspecified -Orphanet:25 Glutaryl-CoA dehydrogenase deficiency skos:exactMatch MESH:C536833 Unspecified -Orphanet:25 Glutaryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231670 Unspecified -Orphanet:25 Glutaryl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0268595 Unspecified -Orphanet:25 Glutaryl-CoA dehydrogenase deficiency skos:broadMatch ICD10:E72.3 Unspecified -Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref UMLS:C2936826 Unspecified -Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref UMLS:C0342770 Unspecified -Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref MESH:C538191 Unspecified -Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref OMIM:606812 Unspecified -Orphanet:24 Fumaric aciduria skos:exactMatch MESH:C538191 Unspecified -Orphanet:24 Fumaric aciduria skos:exactMatch OMIM:606812 Unspecified -Orphanet:24 Fumaric aciduria skos:exactMatch UMLS:C0342770 Unspecified -Orphanet:24 Fumaric aciduria skos:exactMatch UMLS:C2936826 Unspecified -Orphanet:24 Fumaric aciduria skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref UMLS:C1855114 Unspecified -Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:251000 Unspecified -Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia skos:exactMatch UMLS:C1855114 Unspecified -Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia skos:exactMatch OMIM:251000 Unspecified -Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:84085 Hinman syndrome oboInOwl:hasDbXref ICD10:N32.8 Unspecified -Orphanet:84085 Hinman syndrome skos:broadMatch ICD10:N32.8 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:277380 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:614857 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref UMLS:C1848561 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:277410 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref MESH:C537359 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:277400 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:614857 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria skos:exactMatch MESH:C537359 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:277410 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:277380 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:277400 Unspecified -Orphanet:26 Methylmalonic acidemia with homocystinuria skos:exactMatch UMLS:C1848561 Unspecified -Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref UMLS:C1533587 Unspecified -Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref UMLS:C0268601 Unspecified -Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref OMIM:246450 Unspecified -Orphanet:20 3-hydroxy-3-methylglutaric aciduria skos:exactMatch UMLS:C0268601 Unspecified -Orphanet:20 3-hydroxy-3-methylglutaric aciduria skos:exactMatch OMIM:246450 Unspecified -Orphanet:20 3-hydroxy-3-methylglutaric aciduria skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:20 3-hydroxy-3-methylglutaric aciduria skos:exactMatch UMLS:C1533587 Unspecified -Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref ICD10:Q61.8 Unspecified -Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref OMIM:616217 Unspecified -Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref OMIM:613550 Unspecified -Orphanet:84081 Senior-Boichis syndrome skos:narrowMatch OMIM:613550 Unspecified -Orphanet:84081 Senior-Boichis syndrome skos:broadMatch ICD10:Q61.8 Unspecified -Orphanet:84081 Senior-Boichis syndrome skos:narrowMatch OMIM:616217 Unspecified -Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref UMLS:C0268547 Unspecified -Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref OMIM:207900 Unspecified -Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref ICD10:E72.2 Unspecified -Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref MedDRA:10058299 Unspecified -Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref MESH:D056807 Unspecified -Orphanet:23 Argininosuccinic aciduria skos:exactMatch MESH:D056807 Unspecified -Orphanet:23 Argininosuccinic aciduria skos:exactMatch MedDRA:10058299 Unspecified -Orphanet:23 Argininosuccinic aciduria skos:exactMatch UMLS:C0268547 Unspecified -Orphanet:23 Argininosuccinic aciduria skos:exactMatch OMIM:207900 Unspecified -Orphanet:23 Argininosuccinic aciduria skos:broadMatch ICD10:E72.2 Unspecified -Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref OMIM:271980 Unspecified -Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268631 Unspecified -Orphanet:22 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C0268631 Unspecified -Orphanet:22 Succinic semialdehyde dehydrogenase deficiency skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:22 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch OMIM:271980 Unspecified -Orphanet:84087 Collagen type III glomerulopathy oboInOwl:hasDbXref ICD10:N07.6 Unspecified -Orphanet:84087 Collagen type III glomerulopathy skos:broadMatch ICD10:N07.6 Unspecified -Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref UMLS:C0472777 Unspecified -Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 Unspecified -Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome skos:broadMatch ICD10:D58.2 Unspecified -Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome skos:exactMatch UMLS:C0472777 Unspecified -Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref UMLS:C3151147 Unspecified -Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref MESH:C566340 Unspecified -Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref OMIM:613812 Unspecified -Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref ICD10:K76.8 Unspecified -Orphanet:79302 Congenital bile acid synthesis defect type 3 skos:exactMatch OMIM:613812 Unspecified -Orphanet:79302 Congenital bile acid synthesis defect type 3 skos:exactMatch MESH:C566340 Unspecified -Orphanet:79302 Congenital bile acid synthesis defect type 3 skos:broadMatch ICD10:K76.8 Unspecified -Orphanet:79302 Congenital bile acid synthesis defect type 3 skos:exactMatch UMLS:C3151147 Unspecified -Orphanet:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref ICD10:G50.8 Unspecified -Orphanet:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref OMIM:122450 Unspecified -Orphanet:231013 Congenital trigeminal anesthesia skos:exactMatch OMIM:122450 Unspecified -Orphanet:231013 Congenital trigeminal anesthesia skos:broadMatch ICD10:G50.8 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:616481 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614935 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618449 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:242680 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:300991 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:608646 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:608644 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:610852 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615505 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:616726 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:617091 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:244400 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618063 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:215518 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:611884 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:613808 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612649 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:606763 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612650 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref MedDRA:10069713 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614874 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612274 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615444 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615451 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618801 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615482 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612518 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615294 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615067 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618695 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:616037 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:242670 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:608647 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615500 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615504 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:617092 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:215520 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:613193 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:613807 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:617577 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618781 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612444 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref ICD10:Q34.8 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615872 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614679 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614017 Unspecified -Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615481 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:613808 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:606763 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:612649 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:612650 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:618063 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:215518 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:611884 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:610852 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:608644 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:608646 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:300991 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:616726 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:617091 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:615505 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:242680 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:618449 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:614935 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:616481 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:615444 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:615482 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:615451 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:618801 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:612274 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:broadMatch ICD10:Q34.8 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:614874 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:613807 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:617577 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:exactMatch MedDRA:10069713 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:215520 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:exactMatch OMIM:244400 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:613193 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:608647 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:617092 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:615504 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:615500 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:615067 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:242670 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:616037 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:618695 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:615294 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:612518 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:614017 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:615481 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:615872 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:614679 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:618781 Unspecified -Orphanet:244 Primary ciliary dyskinesia skos:narrowMatch OMIM:612444 Unspecified -Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref MESH:C535442 Unspecified -Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref ICD10:K76.8 Unspecified -Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref OMIM:607765 Unspecified -Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref UMLS:C1843116 Unspecified -Orphanet:79301 Congenital bile acid synthesis defect type 1 skos:exactMatch UMLS:C1843116 Unspecified -Orphanet:79301 Congenital bile acid synthesis defect type 1 skos:broadMatch ICD10:K76.8 Unspecified -Orphanet:79301 Congenital bile acid synthesis defect type 1 skos:exactMatch OMIM:607765 Unspecified -Orphanet:79301 Congenital bile acid synthesis defect type 1 skos:exactMatch MESH:C535442 Unspecified -Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.9 Unspecified -Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas skos:broadMatch ICD10:C25.9 Unspecified -Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref MESH:C535443 Unspecified -Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref UMLS:C1856127 Unspecified -Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref ICD10:K76.8 Unspecified -Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref OMIM:235555 Unspecified -Orphanet:79303 Congenital bile acid synthesis defect type 2 skos:exactMatch OMIM:235555 Unspecified -Orphanet:79303 Congenital bile acid synthesis defect type 2 skos:broadMatch ICD10:K76.8 Unspecified -Orphanet:79303 Congenital bile acid synthesis defect type 2 skos:exactMatch UMLS:C1856127 Unspecified -Orphanet:79303 Congenital bile acid synthesis defect type 2 skos:exactMatch MESH:C535443 Unspecified -Orphanet:314769 Somatomammotropinoma oboInOwl:hasDbXref ICD10:D35.2 Unspecified -Orphanet:314769 Somatomammotropinoma skos:broadMatch ICD10:D35.2 Unspecified -Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:127500 Unspecified -Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref UMLS:C1306229 Unspecified -Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref ICD10:L81.8 Unspecified -Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:612715 Unspecified -Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:615402 Unspecified -Orphanet:241 Dyschromatosis universalis hereditaria skos:exactMatch OMIM:127500 Unspecified -Orphanet:241 Dyschromatosis universalis hereditaria skos:exactMatch UMLS:C1306229 Unspecified -Orphanet:241 Dyschromatosis universalis hereditaria skos:broadMatch ICD10:L81.8 Unspecified -Orphanet:241 Dyschromatosis universalis hereditaria skos:narrowMatch OMIM:615402 Unspecified -Orphanet:241 Dyschromatosis universalis hereditaria skos:narrowMatch OMIM:612715 Unspecified -Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref MESH:C537788 Unspecified -Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref OMIM:207731 Unspecified -Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref UMLS:C1859753 Unspecified -Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref ICD10:Q84.8 Unspecified -Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch UMLS:C1859753 Unspecified -Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch OMIM:207731 Unspecified -Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch MESH:C537788 Unspecified -Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:broadMatch ICD10:Q84.8 Unspecified -Orphanet:397946 Autosomal spastic paraplegia type 58 oboInOwl:hasDbXref OMIM:611302 Unspecified -Orphanet:397946 Autosomal spastic paraplegia type 58 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:397946 Autosomal spastic paraplegia type 58 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:397946 Autosomal spastic paraplegia type 58 skos:exactMatch OMIM:611302 Unspecified -Orphanet:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref OMIM:601075 Unspecified -Orphanet:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref ICD10:Q84.8 Unspecified -Orphanet:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref UMLS:C1832826 Unspecified -Orphanet:1117 Aplasia cutis-myopia syndrome skos:broadMatch ICD10:Q84.8 Unspecified -Orphanet:1117 Aplasia cutis-myopia syndrome skos:exactMatch UMLS:C1832826 Unspecified -Orphanet:1117 Aplasia cutis-myopia syndrome skos:exactMatch OMIM:601075 Unspecified -Orphanet:459033 Ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref OMIM:616267 Unspecified -Orphanet:459033 Ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref ICD10:G60.2 Unspecified -Orphanet:459033 Ataxia-oculomotor apraxia type 4 skos:exactMatch OMIM:616267 Unspecified -Orphanet:459033 Ataxia-oculomotor apraxia type 4 skos:broadMatch ICD10:G60.2 Unspecified -Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oboInOwl:hasDbXref OMIM:615486 Unspecified -Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oboInOwl:hasDbXref ICD10:J84.0 Unspecified -Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:exactMatch OMIM:615486 Unspecified -Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:broadMatch ICD10:J84.0 Unspecified -Orphanet:397941 MAN1B1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:397941 MAN1B1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:607681 Unspecified -Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:612269 Unspecified -Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:611136 Unspecified -Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:600131 Unspecified -Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:611942 Unspecified -Orphanet:64280 Childhood absence epilepsy skos:narrowMatch OMIM:611942 Unspecified -Orphanet:64280 Childhood absence epilepsy skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:64280 Childhood absence epilepsy skos:exactMatch OMIM:600131 Unspecified -Orphanet:64280 Childhood absence epilepsy skos:narrowMatch OMIM:607681 Unspecified -Orphanet:64280 Childhood absence epilepsy skos:broadMatch OMIM:611136 Unspecified -Orphanet:64280 Childhood absence epilepsy skos:narrowMatch OMIM:612269 Unspecified -Orphanet:178506 Brain calcification, Rajab type oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:178506 Brain calcification, Rajab type oboInOwl:hasDbXref OMIM:619013 Unspecified -Orphanet:178506 Brain calcification, Rajab type oboInOwl:hasDbXref OMIM:613658 Unspecified -Orphanet:178506 Brain calcification, Rajab type skos:narrowMatch OMIM:613658 Unspecified -Orphanet:178506 Brain calcification, Rajab type skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:178506 Brain calcification, Rajab type skos:narrowMatch OMIM:619013 Unspecified -Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref ICD10:E80.6 Unspecified -Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref MedDRA:10013800 Unspecified -Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref UMLS:C0022350 Unspecified -Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref OMIM:237500 Unspecified -Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref MESH:D007566 Unspecified -Orphanet:234 Dubin-Johnson syndrome skos:broadMatch ICD10:E80.6 Unspecified -Orphanet:234 Dubin-Johnson syndrome skos:exactMatch MESH:D007566 Unspecified -Orphanet:234 Dubin-Johnson syndrome skos:exactMatch OMIM:237500 Unspecified -Orphanet:234 Dubin-Johnson syndrome skos:exactMatch UMLS:C0022350 Unspecified -Orphanet:234 Dubin-Johnson syndrome skos:exactMatch MedDRA:10013800 Unspecified -Orphanet:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:600721 Unspecified -Orphanet:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:613657 Unspecified -Orphanet:79315 D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:600721 Unspecified -Orphanet:79315 D-2-hydroxyglutaric aciduria skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:79315 D-2-hydroxyglutaric aciduria skos:narrowMatch OMIM:613657 Unspecified -Orphanet:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:236792 Unspecified -Orphanet:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C1855995 Unspecified -Orphanet:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C3888081 Unspecified -Orphanet:79314 L-2-hydroxyglutaric aciduria skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:79314 L-2-hydroxyglutaric aciduria skos:exactMatch UMLS:C1855995 Unspecified -Orphanet:79314 L-2-hydroxyglutaric aciduria skos:exactMatch UMLS:C3888081 Unspecified -Orphanet:79314 L-2-hydroxyglutaric aciduria skos:exactMatch OMIM:236792 Unspecified -Orphanet:580951 Punctate inner choroidopathy oboInOwl:hasDbXref ICD10:H31.0 Unspecified -Orphanet:580951 Punctate inner choroidopathy skos:broadMatch ICD10:H31.0 Unspecified -Orphanet:178509 Perry syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:178509 Perry syndrome oboInOwl:hasDbXref OMIM:168605 Unspecified -Orphanet:178509 Perry syndrome oboInOwl:hasDbXref UMLS:C1868594 Unspecified -Orphanet:178509 Perry syndrome skos:exactMatch UMLS:C1868594 Unspecified -Orphanet:178509 Perry syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:178509 Perry syndrome skos:exactMatch OMIM:168605 Unspecified -Orphanet:79319 MPI-CDG oboInOwl:hasDbXref OMIM:602579 Unspecified -Orphanet:79319 MPI-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79319 MPI-CDG oboInOwl:hasDbXref UMLS:C1865145 Unspecified -Orphanet:79319 MPI-CDG skos:exactMatch UMLS:C1865145 Unspecified -Orphanet:79319 MPI-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:79319 MPI-CDG skos:exactMatch OMIM:602579 Unspecified -Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref MESH:C535726 Unspecified -Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref OMIM:223800 Unspecified -Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref OMIM:304950 Unspecified -Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref UMLS:C0265286 Unspecified -Orphanet:239 Dyggve-Melchior-Clausen disease skos:exactMatch UMLS:C0265286 Unspecified -Orphanet:239 Dyggve-Melchior-Clausen disease skos:exactMatch OMIM:223800 Unspecified -Orphanet:239 Dyggve-Melchior-Clausen disease skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:239 Dyggve-Melchior-Clausen disease skos:narrowMatch OMIM:304950 Unspecified -Orphanet:239 Dyggve-Melchior-Clausen disease skos:exactMatch MESH:C535726 Unspecified -Orphanet:79318 PMM2-CDG oboInOwl:hasDbXref OMIM:212065 Unspecified -Orphanet:79318 PMM2-CDG oboInOwl:hasDbXref UMLS:C0349653 Unspecified -Orphanet:79318 PMM2-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79318 PMM2-CDG skos:exactMatch OMIM:212065 Unspecified -Orphanet:79318 PMM2-CDG skos:exactMatch UMLS:C0349653 Unspecified -Orphanet:79318 PMM2-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type oboInOwl:hasDbXref OMIM:616583 Unspecified -Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type skos:exactMatch OMIM:616583 Unspecified -Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref OMIM:223360 Unspecified -Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C0342687 Unspecified -Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref MESH:C535600 Unspecified -Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref ICD10:G90.8 Unspecified -Orphanet:230 Dopamine beta-hydroxylase deficiency skos:broadMatch ICD10:G90.8 Unspecified -Orphanet:230 Dopamine beta-hydroxylase deficiency skos:exactMatch MESH:C535600 Unspecified -Orphanet:230 Dopamine beta-hydroxylase deficiency skos:exactMatch UMLS:C0342687 Unspecified -Orphanet:230 Dopamine beta-hydroxylase deficiency skos:exactMatch OMIM:223360 Unspecified -Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency oboInOwl:hasDbXref OMIM:615008 Unspecified -Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency oboInOwl:hasDbXref ICD10:D58.8 Unspecified -Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency skos:broadMatch OMIM:615008 Unspecified -Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency skos:broadMatch ICD10:D58.8 Unspecified -Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref OMIM:603903 Unspecified -Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.0 Unspecified -Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.2 Unspecified -Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref MedDRA:10040641 Unspecified -Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.1 Unspecified -Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref MESH:D000755 Unspecified -Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref UMLS:C0002895 Unspecified -Orphanet:232 Sickle cell anemia skos:narrowMatch ICD10:D57.0 Unspecified -Orphanet:232 Sickle cell anemia skos:narrowMatch ICD10:D57.2 Unspecified -Orphanet:232 Sickle cell anemia skos:exactMatch UMLS:C0002895 Unspecified -Orphanet:232 Sickle cell anemia skos:exactMatch MESH:D000755 Unspecified -Orphanet:232 Sickle cell anemia skos:exactMatch MedDRA:10040641 Unspecified -Orphanet:232 Sickle cell anemia skos:narrowMatch ICD10:D57.1 Unspecified -Orphanet:232 Sickle cell anemia skos:exactMatch OMIM:603903 Unspecified -Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency oboInOwl:hasDbXref OMIM:615387 Unspecified -Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency skos:exactMatch OMIM:615387 Unspecified -Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref MESH:C537423 Unspecified -Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref OMIM:257550 Unspecified -Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref UMLS:C0543874 Unspecified -Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref ICD10:H51.8 Unspecified -Orphanet:1125 Ocular motor apraxia, Cogan type skos:exactMatch OMIM:257550 Unspecified -Orphanet:1125 Ocular motor apraxia, Cogan type skos:broadMatch ICD10:H51.8 Unspecified -Orphanet:1125 Ocular motor apraxia, Cogan type skos:exactMatch MESH:C537423 Unspecified -Orphanet:1125 Ocular motor apraxia, Cogan type skos:exactMatch UMLS:C0543874 Unspecified -Orphanet:231 Dracunculiasis oboInOwl:hasDbXref MedDRA:10013618 Unspecified -Orphanet:231 Dracunculiasis oboInOwl:hasDbXref UMLS:C0013100 Unspecified -Orphanet:231 Dracunculiasis oboInOwl:hasDbXref MESH:D004320 Unspecified -Orphanet:231 Dracunculiasis oboInOwl:hasDbXref ICD10:B72 Unspecified -Orphanet:231 Dracunculiasis skos:exactMatch ICD10:B72 Unspecified -Orphanet:231 Dracunculiasis skos:exactMatch MESH:D004320 Unspecified -Orphanet:231 Dracunculiasis skos:exactMatch UMLS:C0013100 Unspecified -Orphanet:231 Dracunculiasis skos:exactMatch MedDRA:10013618 Unspecified -Orphanet:2459 Mansonelliasis oboInOwl:hasDbXref UMLS:C0024759 Unspecified -Orphanet:2459 Mansonelliasis oboInOwl:hasDbXref ICD10:B74.4 Unspecified -Orphanet:2459 Mansonelliasis skos:exactMatch ICD10:B74.4 Unspecified -Orphanet:2459 Mansonelliasis skos:exactMatch UMLS:C0024759 Unspecified -Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.1 Unspecified -Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.3 Unspecified -Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.5 Unspecified -Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.7 Unspecified -Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.0 Unspecified -Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.2 Unspecified -Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.4 Unspecified -Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.6 Unspecified -Orphanet:440437 Familial colorectal cancer Type X skos:narrowMatch ICD10:C18.1 Unspecified -Orphanet:440437 Familial colorectal cancer Type X skos:narrowMatch ICD10:C18.5 Unspecified -Orphanet:440437 Familial colorectal cancer Type X skos:narrowMatch ICD10:C18.3 Unspecified -Orphanet:440437 Familial colorectal cancer Type X skos:narrowMatch ICD10:C18.7 Unspecified -Orphanet:440437 Familial colorectal cancer Type X skos:narrowMatch ICD10:C18.2 Unspecified -Orphanet:440437 Familial colorectal cancer Type X skos:narrowMatch ICD10:C18.0 Unspecified -Orphanet:440437 Familial colorectal cancer Type X skos:narrowMatch ICD10:C18.6 Unspecified -Orphanet:440437 Familial colorectal cancer Type X skos:narrowMatch ICD10:C18.4 Unspecified -Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615599 Unspecified -Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome skos:exactMatch OMIM:615599 Unspecified -Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref ICD10:E22.2 Unspecified -Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref UMLS:C1845202 Unspecified -Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref OMIM:300539 Unspecified -Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch UMLS:C1845202 Unspecified -Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch OMIM:300539 Unspecified -Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis skos:broadMatch ICD10:E22.2 Unspecified -Orphanet:564003 Osteochondrosis of the metatarsal bone oboInOwl:hasDbXref ICD10:M92.7 Unspecified -Orphanet:564003 Osteochondrosis of the metatarsal bone skos:exactMatch ICD10:M92.7 Unspecified -Orphanet:506136 Neuroendocrine neoplasm of esophagus oboInOwl:hasDbXref ICD10:C15.8 Unspecified -Orphanet:506136 Neuroendocrine neoplasm of esophagus skos:broadMatch ICD10:C15.8 Unspecified -Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref OMIM:253600 Unspecified -Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref UMLS:C1869123 Unspecified -Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref OMIM:618129 Unspecified -Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 skos:exactMatch OMIM:618129 Unspecified -Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 skos:exactMatch OMIM:253600 Unspecified -Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 skos:exactMatch UMLS:C1869123 Unspecified -Orphanet:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref MESH:D056267 Unspecified -Orphanet:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref UMLS:C1276140 Unspecified -Orphanet:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref ICD10:C84.0 Unspecified -Orphanet:178517 Localized pagetoid reticulosis skos:exactMatch UMLS:C1276140 Unspecified -Orphanet:178517 Localized pagetoid reticulosis skos:exactMatch MESH:D056267 Unspecified -Orphanet:178517 Localized pagetoid reticulosis skos:broadMatch ICD10:C84.0 Unspecified -Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:T37.2 Unspecified -Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:H35.3 Unspecified -Orphanet:279894 Toxic maculopathy due to antimalarial drugs skos:broadMatch ICD10:H35.3 Unspecified -Orphanet:279894 Toxic maculopathy due to antimalarial drugs skos:broadMatch ICD10:T37.2 Unspecified -Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref OMIM:609200 Unspecified -Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref OMIM:159000 Unspecified -Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref UMLS:C1834659 Unspecified -Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A skos:exactMatch UMLS:C1834659 Unspecified -Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A skos:exactMatch OMIM:159000 Unspecified -Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A skos:broadMatch OMIM:609200 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:158901 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref MedDRA:10064087 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:158900 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref UMLS:C0238288 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:600416 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy skos:narrowMatch OMIM:158900 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy skos:narrowMatch OMIM:600416 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy skos:exactMatch MedDRA:10064087 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy skos:narrowMatch OMIM:158901 Unspecified -Orphanet:269 Facioscapulohumeral dystrophy skos:exactMatch UMLS:C0238288 Unspecified -Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref OMIM:253601 Unspecified -Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref UMLS:C1850889 Unspecified -Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 skos:exactMatch UMLS:C1850889 Unspecified -Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 skos:exactMatch OMIM:253601 Unspecified -Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:231031 Erythema palmare hereditarium oboInOwl:hasDbXref UMLS:C1851502 Unspecified -Orphanet:231031 Erythema palmare hereditarium oboInOwl:hasDbXref ICD10:L59.8 Unspecified -Orphanet:231031 Erythema palmare hereditarium oboInOwl:hasDbXref OMIM:133000 Unspecified -Orphanet:231031 Erythema palmare hereditarium skos:exactMatch OMIM:133000 Unspecified -Orphanet:231031 Erythema palmare hereditarium skos:broadMatch ICD10:L59.8 Unspecified -Orphanet:231031 Erythema palmare hereditarium skos:exactMatch UMLS:C1851502 Unspecified -Orphanet:279897 Primary oculocerebral lymphoma oboInOwl:hasDbXref ICD10:C85.7 Unspecified -Orphanet:279897 Primary oculocerebral lymphoma skos:broadMatch ICD10:C85.7 Unspecified -Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref MedDRA:10040664 Unspecified -Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref UMLS:C0032249 Unspecified -Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref MESH:D011004 Unspecified -Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref ICD10:D50.1 Unspecified -Orphanet:54028 Plummer-Vinson syndrome skos:exactMatch UMLS:C0032249 Unspecified -Orphanet:54028 Plummer-Vinson syndrome skos:exactMatch MedDRA:10040664 Unspecified -Orphanet:54028 Plummer-Vinson syndrome skos:broadMatch ICD10:D50.1 Unspecified -Orphanet:54028 Plummer-Vinson syndrome skos:exactMatch MESH:D011004 Unspecified -Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency oboInOwl:hasDbXref OMIM:615468 Unspecified -Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency skos:exactMatch OMIM:615468 Unspecified -Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612998 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:616516 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0410189 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:310300 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MESH:D020389 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:181350 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:300696 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612999 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:614302 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:310300 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:616516 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:612998 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:614302 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy skos:exactMatch MESH:D020389 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy skos:exactMatch UMLS:C0410189 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:612999 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:300696 Unspecified -Orphanet:261 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:181350 Unspecified -Orphanet:397968 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:397968 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref OMIM:615490 Unspecified -Orphanet:397968 Charcot-Marie-Tooth disease type 2R skos:exactMatch OMIM:615490 Unspecified -Orphanet:397968 Charcot-Marie-Tooth disease type 2R skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:459056 Autosomal recessive spastic paraplegia type 75 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:459056 Autosomal recessive spastic paraplegia type 75 oboInOwl:hasDbXref OMIM:616680 Unspecified -Orphanet:459056 Autosomal recessive spastic paraplegia type 75 skos:exactMatch OMIM:616680 Unspecified -Orphanet:459056 Autosomal recessive spastic paraplegia type 75 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref MedDRA:10028228 Unspecified -Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref MESH:D009101 Unspecified -Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref OMIM:254500 Unspecified -Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref UMLS:C0026764 Unspecified -Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref ICD10:C90.0 Unspecified -Orphanet:29073 Multiple myeloma skos:exactMatch ICD10:C90.0 Unspecified -Orphanet:29073 Multiple myeloma skos:exactMatch UMLS:C0026764 Unspecified -Orphanet:29073 Multiple myeloma skos:exactMatch MESH:D009101 Unspecified -Orphanet:29073 Multiple myeloma skos:exactMatch MedDRA:10028228 Unspecified -Orphanet:29073 Multiple myeloma skos:exactMatch OMIM:254500 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:605373 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:601650 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:C74.1 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:171300 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:C75.5 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:168000 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:614165 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:D35.0 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:D35.6 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:618464 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:618475 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:115310 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:171300 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:broadMatch ICD10:C74.1 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:601650 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:605373 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:115310 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:618464 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:618475 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:broadMatch ICD10:D35.0 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:broadMatch ICD10:D35.6 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:614165 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:168000 Unspecified -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma skos:broadMatch ICD10:C75.5 Unspecified -Orphanet:178512 Folliculotropic mycosis fungoides oboInOwl:hasDbXref ICD10:C84.0 Unspecified -Orphanet:178512 Folliculotropic mycosis fungoides oboInOwl:hasDbXref UMLS:C1627767 Unspecified -Orphanet:178512 Folliculotropic mycosis fungoides skos:exactMatch UMLS:C1627767 Unspecified -Orphanet:178512 Folliculotropic mycosis fungoides skos:broadMatch ICD10:C84.0 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref UMLS:C1851945 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref UMLS:C0013423 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref OMIM:602554 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref OMIM:128100 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref UMLS:C3888090 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia skos:exactMatch UMLS:C3888090 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia skos:narrowMatch OMIM:128100 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia skos:narrowMatch OMIM:602554 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia skos:exactMatch UMLS:C0013423 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia skos:exactMatch UMLS:C1851945 Unspecified -Orphanet:256 Early-onset generalized limb-onset dystonia skos:exactMatch ICD10:G24.1 Unspecified -Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.5 Unspecified -Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:broadMatch ICD10:C84.5 Unspecified -Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref OMIM:226670 Unspecified -Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref UMLS:C2931072 Unspecified -Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch OMIM:226670 Unspecified -Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch UMLS:C2931072 Unspecified -Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref OMIM:301830 Unspecified -Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1844934 Unspecified -Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref MESH:C535380 Unspecified -Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 Unspecified -Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy skos:exactMatch MESH:C535380 Unspecified -Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy skos:exactMatch OMIM:301830 Unspecified -Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy skos:exactMatch UMLS:C1844934 Unspecified -Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy skos:broadMatch ICD10:G12.1 Unspecified -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref UMLS:C1858854 Unspecified -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIM:613926 Unspecified -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIM:604004 Unspecified -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIM:613925 Unspecified -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 Unspecified -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts skos:narrowMatch OMIM:613926 Unspecified -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts skos:narrowMatch OMIM:613925 Unspecified -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch UMLS:C1858854 Unspecified -Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 Unspecified -Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref MESH:C536614 Unspecified -Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C1859721 Unspecified -Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref OMIM:208100 Unspecified -Orphanet:1143 Neurogenic arthrogryposis multiplex congenita skos:exactMatch UMLS:C1859721 Unspecified -Orphanet:1143 Neurogenic arthrogryposis multiplex congenita skos:exactMatch OMIM:208100 Unspecified -Orphanet:1143 Neurogenic arthrogryposis multiplex congenita skos:exactMatch MESH:C536614 Unspecified -Orphanet:1143 Neurogenic arthrogryposis multiplex congenita skos:broadMatch ICD10:Q74.3 Unspecified -Orphanet:231040 Familial generalized lentiginosis oboInOwl:hasDbXref ICD10:L81.4 Unspecified -Orphanet:231040 Familial generalized lentiginosis oboInOwl:hasDbXref OMIM:151001 Unspecified -Orphanet:231040 Familial generalized lentiginosis skos:broadMatch ICD10:L81.4 Unspecified -Orphanet:231040 Familial generalized lentiginosis skos:exactMatch OMIM:151001 Unspecified -Orphanet:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 Unspecified -Orphanet:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref OMIM:600634 Unspecified -Orphanet:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref OMIM:102200 Unspecified -Orphanet:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref UMLS:C1863340 Unspecified -Orphanet:314777 Familial isolated pituitary adenoma skos:exactMatch UMLS:C1863340 Unspecified -Orphanet:314777 Familial isolated pituitary adenoma skos:narrowMatch OMIM:600634 Unspecified -Orphanet:314777 Familial isolated pituitary adenoma skos:broadMatch OMIM:102200 Unspecified -Orphanet:314777 Familial isolated pituitary adenoma skos:broadMatch ICD10:D35.2 Unspecified -Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref OMIM:606772 Unspecified -Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref UMLS:C1847522 Unspecified -Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch UMLS:C1847522 Unspecified -Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch OMIM:606772 Unspecified -Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.8 Unspecified -Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:broadMatch ICD10:C84.8 Unspecified -Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615109 Unspecified -Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615107 Unspecified -Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:612359 Unspecified -Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:616858 Unspecified -Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:158350 Unspecified -Orphanet:201 Cowden syndrome oboInOwl:hasDbXref MESH:D006223 Unspecified -Orphanet:201 Cowden syndrome oboInOwl:hasDbXref UMLS:C0018553 Unspecified -Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615106 Unspecified -Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615108 Unspecified -Orphanet:201 Cowden syndrome oboInOwl:hasDbXref MedDRA:10051906 Unspecified -Orphanet:201 Cowden syndrome oboInOwl:hasDbXref ICD10:Q85.8 Unspecified -Orphanet:201 Cowden syndrome skos:broadMatch ICD10:Q85.8 Unspecified -Orphanet:201 Cowden syndrome skos:narrowMatch OMIM:615106 Unspecified -Orphanet:201 Cowden syndrome skos:narrowMatch OMIM:615108 Unspecified -Orphanet:201 Cowden syndrome skos:exactMatch MedDRA:10051906 Unspecified -Orphanet:201 Cowden syndrome skos:narrowMatch OMIM:616858 Unspecified -Orphanet:201 Cowden syndrome skos:exactMatch UMLS:C0018553 Unspecified -Orphanet:201 Cowden syndrome skos:exactMatch MESH:D006223 Unspecified -Orphanet:201 Cowden syndrome skos:narrowMatch OMIM:612359 Unspecified -Orphanet:201 Cowden syndrome skos:narrowMatch OMIM:615109 Unspecified -Orphanet:201 Cowden syndrome skos:narrowMatch OMIM:615107 Unspecified -Orphanet:201 Cowden syndrome skos:exactMatch OMIM:158350 Unspecified -Orphanet:202 Crandall syndrome oboInOwl:hasDbXref UMLS:C0432348 Unspecified -Orphanet:202 Crandall syndrome skos:exactMatch UMLS:C0432348 Unspecified -Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref OMIM:606785 Unspecified -Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref UMLS:C0010324 Unspecified -Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref MESH:D003414 Unspecified -Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref ICD10:E80.5 Unspecified -Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref OMIM:218800 Unspecified -Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref MedDRA:10011386 Unspecified -Orphanet:205 Crigler-Najjar syndrome skos:narrowMatch OMIM:606785 Unspecified -Orphanet:205 Crigler-Najjar syndrome skos:exactMatch MedDRA:10011386 Unspecified -Orphanet:205 Crigler-Najjar syndrome skos:exactMatch MESH:D003414 Unspecified -Orphanet:205 Crigler-Najjar syndrome skos:exactMatch ICD10:E80.5 Unspecified -Orphanet:205 Crigler-Najjar syndrome skos:narrowMatch OMIM:218800 Unspecified -Orphanet:205 Crigler-Najjar syndrome skos:exactMatch UMLS:C0010324 Unspecified -Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C0022336 Unspecified -Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 Unspecified -Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref MedDRA:10011384 Unspecified -Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 Unspecified -Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref MESH:D007562 Unspecified -Orphanet:204 Sporadic Creutzfeldt-Jakob disease skos:broadMatch OMIM:123400 Unspecified -Orphanet:204 Sporadic Creutzfeldt-Jakob disease skos:exactMatch MedDRA:10011384 Unspecified -Orphanet:204 Sporadic Creutzfeldt-Jakob disease skos:exactMatch MESH:D007562 Unspecified -Orphanet:204 Sporadic Creutzfeldt-Jakob disease skos:exactMatch UMLS:C0022336 Unspecified -Orphanet:204 Sporadic Creutzfeldt-Jakob disease skos:broadMatch ICD10:A81.0 Unspecified -Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref MESH:C536988 Unspecified -Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref OMIM:252320 Unspecified -Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref UMLS:C1854961 Unspecified -Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch OMIM:252320 Unspecified -Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch UMLS:C1854961 Unspecified -Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch MESH:C536988 Unspecified -Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:2404 Loiasis oboInOwl:hasDbXref MESH:D008118 Unspecified -Orphanet:2404 Loiasis oboInOwl:hasDbXref ICD10:B74.3 Unspecified -Orphanet:2404 Loiasis oboInOwl:hasDbXref MedDRA:10024797 Unspecified -Orphanet:2404 Loiasis oboInOwl:hasDbXref UMLS:C0023968 Unspecified -Orphanet:2404 Loiasis skos:exactMatch UMLS:C0023968 Unspecified -Orphanet:2404 Loiasis skos:exactMatch MedDRA:10024797 Unspecified -Orphanet:2404 Loiasis skos:exactMatch ICD10:B74.3 Unspecified -Orphanet:2404 Loiasis skos:exactMatch MESH:D008118 Unspecified -Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref ICD10:G83.8 Unspecified -Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref MedDRA:10024792 Unspecified -Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref UMLS:C0023944 Unspecified -Orphanet:2406 Locked-in syndrome skos:exactMatch UMLS:C0023944 Unspecified -Orphanet:2406 Locked-in syndrome skos:exactMatch MedDRA:10024792 Unspecified -Orphanet:2406 Locked-in syndrome skos:broadMatch ICD10:G83.8 Unspecified -Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref OMIM:245660 Unspecified -Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref UMLS:C1328355 Unspecified -Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref ICD10:Q81.8 Unspecified -Orphanet:2407 Laryngo-onycho-cutaneous syndrome skos:exactMatch OMIM:245660 Unspecified -Orphanet:2407 Laryngo-onycho-cutaneous syndrome skos:exactMatch UMLS:C1328355 Unspecified -Orphanet:2407 Laryngo-onycho-cutaneous syndrome skos:broadMatch ICD10:Q81.8 Unspecified -Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome oboInOwl:hasDbXref ICD10:G11.3 Unspecified -Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome oboInOwl:hasDbXref OMIM:615919 Unspecified -Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome skos:broadMatch ICD10:G11.3 Unspecified -Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome skos:exactMatch OMIM:615919 Unspecified -Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref UMLS:C0376407 Unspecified -Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref UMLS:C0457002 Unspecified -Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref ICD10:C84.0 Unspecified -Orphanet:33111 Granulomatous slack skin skos:exactMatch UMLS:C0376407 Unspecified -Orphanet:33111 Granulomatous slack skin skos:broadMatch ICD10:C84.0 Unspecified -Orphanet:33111 Granulomatous slack skin skos:exactMatch UMLS:C0457002 Unspecified -Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref UMLS:C0265800 Unspecified -Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref MESH:C537727 Unspecified -Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref UMLS:C1849554 Unspecified -Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref ICD10:Q33.8 Unspecified -Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref OMIM:265300 Unspecified -Orphanet:2414 Congenital pulmonary lymphangiectasia skos:exactMatch OMIM:265300 Unspecified -Orphanet:2414 Congenital pulmonary lymphangiectasia skos:exactMatch UMLS:C1849554 Unspecified -Orphanet:2414 Congenital pulmonary lymphangiectasia skos:broadMatch ICD10:Q33.8 Unspecified -Orphanet:2414 Congenital pulmonary lymphangiectasia skos:exactMatch UMLS:C0265800 Unspecified -Orphanet:2414 Congenital pulmonary lymphangiectasia skos:exactMatch MESH:C537727 Unspecified -Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:313900 Unspecified -Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:188000 Unspecified -Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:273900 Unspecified -Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:612004 Unspecified -Orphanet:268322 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:612004 Unspecified -Orphanet:268322 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:188000 Unspecified -Orphanet:268322 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:273900 Unspecified -Orphanet:268322 Hereditary thrombocytopenia with normal platelets skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:268322 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:313900 Unspecified -Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency oboInOwl:hasDbXref ICD10:Q28.8 Unspecified -Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency oboInOwl:hasDbXref OMIM:614437 Unspecified -Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency skos:broadMatch ICD10:Q28.8 Unspecified -Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency skos:broadMatch OMIM:614437 Unspecified -Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref MedDRA:10067685 Unspecified -Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref UMLS:C0022972 Unspecified -Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref ICD10:G73.1 Unspecified -Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref MESH:D015624 Unspecified -Orphanet:43393 Lambert-Eaton myasthenic syndrome skos:exactMatch ICD10:G73.1 Unspecified -Orphanet:43393 Lambert-Eaton myasthenic syndrome skos:exactMatch MESH:D015624 Unspecified -Orphanet:43393 Lambert-Eaton myasthenic syndrome skos:exactMatch UMLS:C0022972 Unspecified -Orphanet:43393 Lambert-Eaton myasthenic syndrome skos:exactMatch MedDRA:10067685 Unspecified -Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref OMIM:242600 Unspecified -Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref UMLS:C0268654 Unspecified -Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref MESH:C536285 Unspecified -Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref ICD10:E72.0 Unspecified -Orphanet:42062 Iminoglycinuria skos:broadMatch ICD10:E72.0 Unspecified -Orphanet:42062 Iminoglycinuria skos:exactMatch OMIM:242600 Unspecified -Orphanet:42062 Iminoglycinuria skos:exactMatch UMLS:C0268654 Unspecified -Orphanet:42062 Iminoglycinuria skos:exactMatch MESH:C536285 Unspecified -Orphanet:79324 ALG12-CDG oboInOwl:hasDbXref OMIM:607143 Unspecified -Orphanet:79324 ALG12-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79324 ALG12-CDG oboInOwl:hasDbXref UMLS:C2931001 Unspecified -Orphanet:79324 ALG12-CDG skos:exactMatch UMLS:C2931001 Unspecified -Orphanet:79324 ALG12-CDG skos:exactMatch OMIM:607143 Unspecified -Orphanet:79324 ALG12-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD10:N25.1 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:304800 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref MESH:D018500 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref MedDRA:10029147 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:125800 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref UMLS:C0162283 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus skos:exactMatch MESH:D018500 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus skos:narrowMatch OMIM:125800 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus skos:exactMatch ICD10:N25.1 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus skos:exactMatch MedDRA:10029147 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus skos:narrowMatch OMIM:304800 Unspecified -Orphanet:223 Nephrogenic diabetes insipidus skos:exactMatch UMLS:C0162283 Unspecified -Orphanet:79323 MPDU1-CDG oboInOwl:hasDbXref OMIM:609180 Unspecified -Orphanet:79323 MPDU1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79323 MPDU1-CDG oboInOwl:hasDbXref UMLS:C1836669 Unspecified -Orphanet:79323 MPDU1-CDG skos:exactMatch UMLS:C1836669 Unspecified -Orphanet:79323 MPDU1-CDG skos:exactMatch OMIM:609180 Unspecified -Orphanet:79323 MPDU1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:222 Erosive pustular dermatosis of the scalp oboInOwl:hasDbXref UMLS:C0406464 Unspecified -Orphanet:222 Erosive pustular dermatosis of the scalp skos:exactMatch UMLS:C0406464 Unspecified -Orphanet:79326 ALG2-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79326 ALG2-CDG oboInOwl:hasDbXref OMIM:607906 Unspecified -Orphanet:79326 ALG2-CDG oboInOwl:hasDbXref UMLS:C1842836 Unspecified -Orphanet:79326 ALG2-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:79326 ALG2-CDG skos:exactMatch UMLS:C1842836 Unspecified -Orphanet:79326 ALG2-CDG skos:exactMatch OMIM:607906 Unspecified -Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref UMLS:C0342289 Unspecified -Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref MESH:C536246 Unspecified -Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref ICD10:E13.8 Unspecified -Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref OMIM:520000 Unspecified -Orphanet:225 Maternally-inherited diabetes and deafness skos:exactMatch OMIM:520000 Unspecified -Orphanet:225 Maternally-inherited diabetes and deafness skos:broadMatch ICD10:E13.8 Unspecified -Orphanet:225 Maternally-inherited diabetes and deafness skos:exactMatch MESH:C536246 Unspecified -Orphanet:225 Maternally-inherited diabetes and deafness skos:exactMatch UMLS:C0342289 Unspecified -Orphanet:79325 ALG8-CDG oboInOwl:hasDbXref UMLS:C2931002 Unspecified -Orphanet:79325 ALG8-CDG oboInOwl:hasDbXref OMIM:608104 Unspecified -Orphanet:79325 ALG8-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79325 ALG8-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:79325 ALG8-CDG skos:exactMatch OMIM:608104 Unspecified -Orphanet:79325 ALG8-CDG skos:exactMatch UMLS:C2931002 Unspecified -Orphanet:79328 ALG9-CDG oboInOwl:hasDbXref OMIM:263210 Unspecified -Orphanet:79328 ALG9-CDG oboInOwl:hasDbXref OMIM:608776 Unspecified -Orphanet:79328 ALG9-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79328 ALG9-CDG oboInOwl:hasDbXref UMLS:C2931006 Unspecified -Orphanet:79328 ALG9-CDG skos:exactMatch OMIM:608776 Unspecified -Orphanet:79328 ALG9-CDG skos:exactMatch UMLS:C2931006 Unspecified -Orphanet:79328 ALG9-CDG skos:narrowMatch OMIM:263210 Unspecified -Orphanet:79328 ALG9-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies oboInOwl:hasDbXref OMIM:615471 Unspecified -Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies skos:exactMatch OMIM:615471 Unspecified -Orphanet:79327 ALG1-CDG oboInOwl:hasDbXref UMLS:C2931005 Unspecified -Orphanet:79327 ALG1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79327 ALG1-CDG oboInOwl:hasDbXref OMIM:608540 Unspecified -Orphanet:79327 ALG1-CDG skos:exactMatch OMIM:608540 Unspecified -Orphanet:79327 ALG1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:79327 ALG1-CDG skos:exactMatch UMLS:C2931005 Unspecified -Orphanet:229 Familial aortic dissection oboInOwl:hasDbXref ICD10:I71.0 Unspecified -Orphanet:229 Familial aortic dissection oboInOwl:hasDbXref OMIM:607086 Unspecified -Orphanet:229 Familial aortic dissection oboInOwl:hasDbXref UMLS:C0392775 Unspecified -Orphanet:229 Familial aortic dissection skos:exactMatch UMLS:C0392775 Unspecified -Orphanet:229 Familial aortic dissection skos:exactMatch OMIM:607086 Unspecified -Orphanet:229 Familial aortic dissection skos:broadMatch ICD10:I71.0 Unspecified -Orphanet:79329 MGAT2-CDG oboInOwl:hasDbXref OMIM:212066 Unspecified -Orphanet:79329 MGAT2-CDG oboInOwl:hasDbXref UMLS:C2931008 Unspecified -Orphanet:79329 MGAT2-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79329 MGAT2-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:79329 MGAT2-CDG skos:exactMatch OMIM:212066 Unspecified -Orphanet:79329 MGAT2-CDG skos:exactMatch UMLS:C2931008 Unspecified -Orphanet:79320 ALG6-CDG oboInOwl:hasDbXref OMIM:603147 Unspecified -Orphanet:79320 ALG6-CDG oboInOwl:hasDbXref UMLS:C2930997 Unspecified -Orphanet:79320 ALG6-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79320 ALG6-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:79320 ALG6-CDG skos:exactMatch UMLS:C2930997 Unspecified -Orphanet:79320 ALG6-CDG skos:exactMatch OMIM:603147 Unspecified -Orphanet:221 Dermatomyositis oboInOwl:hasDbXref UMLS:C0011633 Unspecified -Orphanet:221 Dermatomyositis oboInOwl:hasDbXref UMLS:C0221056 Unspecified -Orphanet:221 Dermatomyositis oboInOwl:hasDbXref MESH:D003882 Unspecified -Orphanet:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 Unspecified -Orphanet:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 Unspecified -Orphanet:221 Dermatomyositis oboInOwl:hasDbXref MedDRA:10012503 Unspecified -Orphanet:221 Dermatomyositis skos:exactMatch UMLS:C0221056 Unspecified -Orphanet:221 Dermatomyositis skos:exactMatch MESH:D003882 Unspecified -Orphanet:221 Dermatomyositis skos:broadMatch ICD10:M33.1 Unspecified -Orphanet:221 Dermatomyositis skos:exactMatch UMLS:C0011633 Unspecified -Orphanet:221 Dermatomyositis skos:broadMatch ICD10:M33.0 Unspecified -Orphanet:221 Dermatomyositis skos:exactMatch MedDRA:10012503 Unspecified -Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref MedDRA:10037418 Unspecified -Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref UMLS:C0519063 Unspecified -Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref ICD10:C85.7 Unspecified -Orphanet:2420 Primary pulmonary lymphoma skos:exactMatch UMLS:C0519063 Unspecified -Orphanet:2420 Primary pulmonary lymphoma skos:exactMatch MedDRA:10037418 Unspecified -Orphanet:2420 Primary pulmonary lymphoma skos:broadMatch ICD10:C85.7 Unspecified -Orphanet:79322 DPM1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79322 DPM1-CDG oboInOwl:hasDbXref UMLS:C1837396 Unspecified -Orphanet:79322 DPM1-CDG oboInOwl:hasDbXref OMIM:608799 Unspecified -Orphanet:79322 DPM1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:79322 DPM1-CDG skos:exactMatch OMIM:608799 Unspecified -Orphanet:79322 DPM1-CDG skos:exactMatch UMLS:C1837396 Unspecified -Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref MESH:D030321 Unspecified -Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref UMLS:C0950121 Unspecified -Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref OMIM:194080 Unspecified -Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref ICD10:N04.1 Unspecified -Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref MedDRA:10070179 Unspecified -Orphanet:220 Denys-Drash syndrome skos:exactMatch UMLS:C0950121 Unspecified -Orphanet:220 Denys-Drash syndrome skos:broadMatch ICD10:N04.1 Unspecified -Orphanet:220 Denys-Drash syndrome skos:exactMatch OMIM:194080 Unspecified -Orphanet:220 Denys-Drash syndrome skos:exactMatch MedDRA:10070179 Unspecified -Orphanet:220 Denys-Drash syndrome skos:exactMatch MESH:D030321 Unspecified -Orphanet:79321 ALG3-CDG oboInOwl:hasDbXref OMIM:601110 Unspecified -Orphanet:79321 ALG3-CDG oboInOwl:hasDbXref UMLS:C1832736 Unspecified -Orphanet:79321 ALG3-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79321 ALG3-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:79321 ALG3-CDG skos:exactMatch UMLS:C1832736 Unspecified -Orphanet:79321 ALG3-CDG skos:exactMatch OMIM:601110 Unspecified -Orphanet:438117 Steel syndrome oboInOwl:hasDbXref ICD10:Q87.5 Unspecified -Orphanet:438117 Steel syndrome oboInOwl:hasDbXref OMIM:615155 Unspecified -Orphanet:438117 Steel syndrome skos:exactMatch OMIM:615155 Unspecified -Orphanet:438117 Steel syndrome skos:broadMatch ICD10:Q87.5 Unspecified -Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDbXref OMIM:610921 Unspecified -Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDbXref ICD10:J84.8 Unspecified -Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency skos:exactMatch OMIM:610921 Unspecified -Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency skos:broadMatch ICD10:J84.8 Unspecified -Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:616140 Unspecified -Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch OMIM:616140 Unspecified -Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:212 Cystathioninuria oboInOwl:hasDbXref MESH:C535408 Unspecified -Orphanet:212 Cystathioninuria oboInOwl:hasDbXref UMLS:C0268616 Unspecified -Orphanet:212 Cystathioninuria oboInOwl:hasDbXref OMIM:219500 Unspecified -Orphanet:212 Cystathioninuria oboInOwl:hasDbXref UMLS:C0220993 Unspecified -Orphanet:212 Cystathioninuria oboInOwl:hasDbXref ICD10:E72.1 Unspecified -Orphanet:212 Cystathioninuria skos:exactMatch UMLS:C0220993 Unspecified -Orphanet:212 Cystathioninuria skos:exactMatch MESH:C535408 Unspecified -Orphanet:212 Cystathioninuria skos:exactMatch OMIM:219500 Unspecified -Orphanet:212 Cystathioninuria skos:exactMatch UMLS:C0268616 Unspecified -Orphanet:212 Cystathioninuria skos:broadMatch ICD10:E72.1 Unspecified -Orphanet:214 Cystinuria oboInOwl:hasDbXref MedDRA:10011778 Unspecified -Orphanet:214 Cystinuria oboInOwl:hasDbXref UMLS:C0268646 Unspecified -Orphanet:214 Cystinuria oboInOwl:hasDbXref MESH:D003555 Unspecified -Orphanet:214 Cystinuria oboInOwl:hasDbXref ICD10:E72.0 Unspecified -Orphanet:214 Cystinuria oboInOwl:hasDbXref OMIM:220100 Unspecified -Orphanet:214 Cystinuria oboInOwl:hasDbXref UMLS:C0010691 Unspecified -Orphanet:214 Cystinuria skos:exactMatch OMIM:220100 Unspecified -Orphanet:214 Cystinuria skos:exactMatch MESH:D003555 Unspecified -Orphanet:214 Cystinuria skos:exactMatch UMLS:C0010691 Unspecified -Orphanet:214 Cystinuria skos:exactMatch MedDRA:10011778 Unspecified -Orphanet:214 Cystinuria skos:exactMatch UMLS:C0268646 Unspecified -Orphanet:214 Cystinuria skos:broadMatch ICD10:E72.0 Unspecified -Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C0034155 Unspecified -Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref OMIM:274150 Unspecified -Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MedDRA:10043648 Unspecified -Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 Unspecified -Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MESH:D011697 Unspecified -Orphanet:54057 Thrombotic thrombocytopenic purpura skos:narrowMatch OMIM:274150 Unspecified -Orphanet:54057 Thrombotic thrombocytopenic purpura skos:exactMatch MedDRA:10043648 Unspecified -Orphanet:54057 Thrombotic thrombocytopenic purpura skos:exactMatch MESH:D011697 Unspecified -Orphanet:54057 Thrombotic thrombocytopenic purpura skos:broadMatch ICD10:M31.1 Unspecified -Orphanet:54057 Thrombotic thrombocytopenic purpura skos:exactMatch UMLS:C0034155 Unspecified -Orphanet:213 Cystinosis oboInOwl:hasDbXref ICD10:E72.0 Unspecified -Orphanet:213 Cystinosis oboInOwl:hasDbXref OMIM:219900 Unspecified -Orphanet:213 Cystinosis oboInOwl:hasDbXref MedDRA:10011777 Unspecified -Orphanet:213 Cystinosis oboInOwl:hasDbXref UMLS:C0010690 Unspecified -Orphanet:213 Cystinosis oboInOwl:hasDbXref OMIM:219800 Unspecified -Orphanet:213 Cystinosis oboInOwl:hasDbXref OMIM:219750 Unspecified -Orphanet:213 Cystinosis oboInOwl:hasDbXref MESH:D003554 Unspecified -Orphanet:213 Cystinosis skos:narrowMatch OMIM:219750 Unspecified -Orphanet:213 Cystinosis skos:exactMatch MESH:D003554 Unspecified -Orphanet:213 Cystinosis skos:exactMatch UMLS:C0010690 Unspecified -Orphanet:213 Cystinosis skos:narrowMatch OMIM:219800 Unspecified -Orphanet:213 Cystinosis skos:exactMatch MedDRA:10011777 Unspecified -Orphanet:213 Cystinosis skos:broadMatch ICD10:E72.0 Unspecified -Orphanet:213 Cystinosis skos:narrowMatch OMIM:219900 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:617024 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref UMLS:C0339535 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:610427 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:610445 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:163500 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:615058 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:300071 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:310500 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:610444 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:614565 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:613216 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref MESH:C536122 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:257270 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:616389 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:613830 Unspecified -Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref ICD10:H53.6 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:257270 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:616389 Unspecified -Orphanet:215 Congenital stationary night blindness skos:exactMatch MESH:C536122 Unspecified -Orphanet:215 Congenital stationary night blindness skos:broadMatch ICD10:H53.6 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:613216 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:163500 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:300071 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:615058 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:310500 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:614565 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:610444 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:613830 Unspecified -Orphanet:215 Congenital stationary night blindness skos:exactMatch UMLS:C0339535 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:617024 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:610427 Unspecified -Orphanet:215 Congenital stationary night blindness skos:narrowMatch OMIM:610445 Unspecified -Orphanet:218 Darier disease oboInOwl:hasDbXref MESH:D007644 Unspecified -Orphanet:218 Darier disease oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:218 Darier disease oboInOwl:hasDbXref OMIM:124200 Unspecified -Orphanet:218 Darier disease oboInOwl:hasDbXref MedDRA:10023369 Unspecified -Orphanet:218 Darier disease oboInOwl:hasDbXref UMLS:C0022595 Unspecified -Orphanet:218 Darier disease skos:exactMatch UMLS:C0022595 Unspecified -Orphanet:218 Darier disease skos:exactMatch MedDRA:10023369 Unspecified -Orphanet:218 Darier disease skos:exactMatch OMIM:124200 Unspecified -Orphanet:218 Darier disease skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:218 Darier disease skos:exactMatch MESH:D007644 Unspecified -Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1835172 Unspecified -Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:exactMatch UMLS:C1835172 Unspecified -Orphanet:79330 MOGS-CDG oboInOwl:hasDbXref UMLS:C1853736 Unspecified -Orphanet:79330 MOGS-CDG oboInOwl:hasDbXref OMIM:606056 Unspecified -Orphanet:79330 MOGS-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79330 MOGS-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:79330 MOGS-CDG skos:exactMatch OMIM:606056 Unspecified -Orphanet:79330 MOGS-CDG skos:exactMatch UMLS:C1853736 Unspecified -Orphanet:210 Cyclosporosis oboInOwl:hasDbXref ICD10:A07.3 Unspecified -Orphanet:210 Cyclosporosis skos:broadMatch ICD10:A07.3 Unspecified -Orphanet:79333 COG7-CDG oboInOwl:hasDbXref UMLS:C2931010 Unspecified -Orphanet:79333 COG7-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79333 COG7-CDG oboInOwl:hasDbXref OMIM:608779 Unspecified -Orphanet:79333 COG7-CDG skos:exactMatch OMIM:608779 Unspecified -Orphanet:79333 COG7-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:79333 COG7-CDG skos:exactMatch UMLS:C2931010 Unspecified -Orphanet:79332 B4GALT1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:79332 B4GALT1-CDG oboInOwl:hasDbXref UMLS:C2931009 Unspecified -Orphanet:79332 B4GALT1-CDG oboInOwl:hasDbXref OMIM:607091 Unspecified -Orphanet:79332 B4GALT1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:79332 B4GALT1-CDG skos:exactMatch OMIM:607091 Unspecified -Orphanet:79332 B4GALT1-CDG skos:exactMatch UMLS:C2931009 Unspecified -Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref UMLS:C1832525 Unspecified -Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref OMIM:601287 Unspecified -Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 skos:exactMatch UMLS:C1832525 Unspecified -Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 skos:exactMatch OMIM:601287 Unspecified -Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref ICD10:E72.1 Unspecified -Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref OMIM:613971 Unspecified -Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:exactMatch OMIM:613971 Unspecified -Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:broadMatch ICD10:E72.1 Unspecified -Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref OMIM:209300 Unspecified -Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref UMLS:C1859593 Unspecified -Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref UMLS:C0521802 Unspecified -Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref MESH:C538259 Unspecified -Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref ICD10:E88.0 Unspecified -Orphanet:1195 Congenital atransferrinemia skos:exactMatch MESH:C538259 Unspecified -Orphanet:1195 Congenital atransferrinemia skos:exactMatch UMLS:C0521802 Unspecified -Orphanet:1195 Congenital atransferrinemia skos:exactMatch OMIM:209300 Unspecified -Orphanet:1195 Congenital atransferrinemia skos:exactMatch ICD10:E88.0 Unspecified -Orphanet:1195 Congenital atransferrinemia skos:exactMatch UMLS:C1859593 Unspecified -Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref UMLS:C3279699 Unspecified -Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref OMIM:614052 Unspecified -Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy skos:exactMatch OMIM:614052 Unspecified -Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy skos:exactMatch UMLS:C3279699 Unspecified -Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref ICD10:M86.3 Unspecified -Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref UMLS:C0410422 Unspecified -Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref OMIM:259680 Unspecified -Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis skos:exactMatch OMIM:259680 Unspecified -Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis skos:exactMatch UMLS:C0410422 Unspecified -Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis skos:exactMatch ICD10:M86.3 Unspecified -Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref OMIM:615376 Unspecified -Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C skos:exactMatch OMIM:615376 Unspecified -Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome oboInOwl:hasDbXref ICD10:D64.0 Unspecified -Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome oboInOwl:hasDbXref OMIM:616084 Unspecified -Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:broadMatch ICD10:D64.0 Unspecified -Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:exactMatch OMIM:616084 Unspecified -Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref OMIM:604117 Unspecified -Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref UMLS:C1858805 Unspecified -Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis skos:exactMatch OMIM:604117 Unspecified -Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis skos:exactMatch UMLS:C1858805 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615023 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:242100 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615024 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615022 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma oboInOwl:hasDbXref UMLS:C0079154 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:612281 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:606545 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma oboInOwl:hasDbXref ICD10:Q80.2 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:612281 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:606545 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:615022 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:615024 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma skos:broadMatch ICD10:Q80.2 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma skos:exactMatch UMLS:C0079154 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:615023 Unspecified -Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:242100 Unspecified -Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref UMLS:C0432316 Unspecified -Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref OMIM:131960 Unspecified -Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref MESH:C535959 Unspecified -Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation skos:exactMatch OMIM:131960 Unspecified -Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation skos:exactMatch MESH:C535959 Unspecified -Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation skos:exactMatch UMLS:C0432316 Unspecified -Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome oboInOwl:hasDbXref OMIM:148360 Unspecified -Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch OMIM:148360 Unspecified -Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref OMIM:131760 Unspecified -Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref UMLS:C0079295 Unspecified -Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form skos:exactMatch UMLS:C0079295 Unspecified -Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form skos:exactMatch OMIM:131760 Unspecified -Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref OMIM:131900 Unspecified -Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref UMLS:C0079299 Unspecified -Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref MESH:C535961 Unspecified -Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form skos:exactMatch MESH:C535961 Unspecified -Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form skos:exactMatch OMIM:131900 Unspecified -Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form skos:exactMatch UMLS:C0079299 Unspecified -Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:457265 Progressive myoclonic epilepsy type 9 oboInOwl:hasDbXref OMIM:616540 Unspecified -Orphanet:457265 Progressive myoclonic epilepsy type 9 oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:457265 Progressive myoclonic epilepsy type 9 skos:exactMatch OMIM:616540 Unspecified -Orphanet:457265 Progressive myoclonic epilepsy type 9 skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref ICD10:F78.8 Unspecified -Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref OMIM:300958 Unspecified -Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:broadMatch OMIM:300958 Unspecified -Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:broadMatch ICD10:F78.8 Unspecified -Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref OMIM:615122 Unspecified -Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref ICD10:D47.9 Unspecified -Orphanet:238505 Combined immunodeficiency due to CD27 deficiency skos:exactMatch OMIM:615122 Unspecified -Orphanet:238505 Combined immunodeficiency due to CD27 deficiency skos:broadMatch ICD10:D47.9 Unspecified -Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref OMIM:615285 Unspecified -Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref ICD10:D70 Unspecified -Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:broadMatch ICD10:D70 Unspecified -Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch OMIM:615285 Unspecified -Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 Unspecified -Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref MedDRA:10008521 Unspecified -Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref UMLS:C2931785 Unspecified -Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref MESH:C538250 Unspecified -Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref UMLS:C0263666 Unspecified -Orphanet:93672 Juvenile dermatomyositis skos:exactMatch MESH:C538250 Unspecified -Orphanet:93672 Juvenile dermatomyositis skos:exactMatch UMLS:C0263666 Unspecified -Orphanet:93672 Juvenile dermatomyositis skos:exactMatch UMLS:C2931785 Unspecified -Orphanet:93672 Juvenile dermatomyositis skos:exactMatch ICD10:M33.0 Unspecified -Orphanet:93672 Juvenile dermatomyositis skos:exactMatch MedDRA:10008521 Unspecified -Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref ICD10:E72.1 Unspecified -Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref OMIM:614300 Unspecified -Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency skos:broadMatch ICD10:E72.1 Unspecified -Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency skos:exactMatch OMIM:614300 Unspecified -Orphanet:555905 IgA pemphigus oboInOwl:hasDbXref ICD10:L10.8 Unspecified -Orphanet:555905 IgA pemphigus skos:broadMatch ICD10:L10.8 Unspecified -Orphanet:308013 Focal acral hyperkeratosis oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:308013 Focal acral hyperkeratosis oboInOwl:hasDbXref UMLS:C1302839 Unspecified -Orphanet:308013 Focal acral hyperkeratosis skos:exactMatch UMLS:C1302839 Unspecified -Orphanet:308013 Focal acral hyperkeratosis skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref ICD10:G25.5 Unspecified -Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref OMIM:615356 Unspecified -Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:broadMatch ICD10:G25.5 Unspecified -Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref OMIM:615356 Unspecified -Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 skos:exactMatch OMIM:615356 Unspecified -Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref ICD10:L10.8 Unspecified -Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref UMLS:C0406650 Unspecified -Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref MedDRA:10024515 Unspecified -Orphanet:46488 Linear IgA dermatosis skos:exactMatch MedDRA:10024515 Unspecified -Orphanet:46488 Linear IgA dermatosis skos:broadMatch ICD10:L10.8 Unspecified -Orphanet:46488 Linear IgA dermatosis skos:exactMatch UMLS:C0406650 Unspecified -Orphanet:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref MedDRA:10057052 Unspecified -Orphanet:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref ICD10:L12.1 Unspecified -Orphanet:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref OMIM:164185 Unspecified -Orphanet:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref UMLS:C0030804 Unspecified -Orphanet:46486 Mucous membrane pemphigoid skos:broadMatch OMIM:164185 Unspecified -Orphanet:46486 Mucous membrane pemphigoid skos:broadMatch ICD10:L12.1 Unspecified -Orphanet:46486 Mucous membrane pemphigoid skos:exactMatch MedDRA:10057052 Unspecified -Orphanet:46486 Mucous membrane pemphigoid skos:exactMatch UMLS:C0030804 Unspecified -Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref ICD10:L12.3 Unspecified -Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref MedDRA:10056508 Unspecified -Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref UMLS:C0079293 Unspecified -Orphanet:46487 Epidermolysis bullosa acquisita skos:exactMatch UMLS:C0079293 Unspecified -Orphanet:46487 Epidermolysis bullosa acquisita skos:exactMatch MedDRA:10056508 Unspecified -Orphanet:46487 Epidermolysis bullosa acquisita skos:exactMatch ICD10:L12.3 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:618048 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:256040 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:617591 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:619175 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:619183 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:619175 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:618048 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:256040 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:617591 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:619183 Unspecified -Orphanet:324977 Proteasome-associated autoinflammatory syndrome skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:324972 MAGIC syndrome oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:324972 MAGIC syndrome skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:235370 Unspecified -Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref MESH:D004612 Unspecified -Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:611804 Unspecified -Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref MedDRA:10014490 Unspecified -Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:130600 Unspecified -Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:617948 Unspecified -Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 Unspecified -Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref UMLS:C0013902 Unspecified -Orphanet:288 Hereditary elliptocytosis skos:exactMatch ICD10:D58.1 Unspecified -Orphanet:288 Hereditary elliptocytosis skos:exactMatch UMLS:C0013902 Unspecified -Orphanet:288 Hereditary elliptocytosis skos:narrowMatch OMIM:617948 Unspecified -Orphanet:288 Hereditary elliptocytosis skos:exactMatch MedDRA:10014490 Unspecified -Orphanet:288 Hereditary elliptocytosis skos:narrowMatch OMIM:130600 Unspecified -Orphanet:288 Hereditary elliptocytosis skos:exactMatch MESH:D004612 Unspecified -Orphanet:288 Hereditary elliptocytosis skos:narrowMatch OMIM:611804 Unspecified -Orphanet:288 Hereditary elliptocytosis skos:narrowMatch OMIM:235370 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.5 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.7 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.3 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.6 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.4 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref UMLS:C0544862 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref MESH:C537387 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref OMIM:249400 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis skos:exactMatch UMLS:C0544862 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis skos:narrowMatch ICD10:D22.7 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis skos:narrowMatch ICD10:D22.3 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis skos:narrowMatch ICD10:D22.5 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis skos:exactMatch MESH:C537387 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis skos:exactMatch OMIM:249400 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis skos:narrowMatch ICD10:D22.4 Unspecified -Orphanet:2481 Neurocutaneous melanocytosis skos:narrowMatch ICD10:D22.6 Unspecified -Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref MESH:D018442 Unspecified -Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref UMLS:C1275321 Unspecified -Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 Unspecified -Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma skos:broadMatch ICD10:C83.0 Unspecified -Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma skos:exactMatch MESH:D018442 Unspecified -Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma skos:exactMatch UMLS:C1275321 Unspecified -Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref OMIM:606407 Unspecified -Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 Unspecified -Orphanet:238523 Atypical hypotonia-cystinuria syndrome skos:broadMatch OMIM:606407 Unspecified -Orphanet:238523 Atypical hypotonia-cystinuria syndrome skos:broadMatch ICD10:E72.0 Unspecified -Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref OMIM:122400 Unspecified -Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref UMLS:C1852551 Unspecified -Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:293381 Epithelial recurrent erosion dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:293381 Epithelial recurrent erosion dystrophy skos:exactMatch OMIM:122400 Unspecified -Orphanet:293381 Epithelial recurrent erosion dystrophy skos:exactMatch UMLS:C1852551 Unspecified -Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref OMIM:614889 Unspecified -Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:broadMatch OMIM:614889 Unspecified -Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref MedDRA:10058328 Unspecified -Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref ICD10:O43.0 Unspecified -Orphanet:95431 Twin to twin transfusion syndrome skos:exactMatch MedDRA:10058328 Unspecified -Orphanet:95431 Twin to twin transfusion syndrome skos:broadMatch ICD10:O43.0 Unspecified -Orphanet:283 Demodicidosis oboInOwl:hasDbXref UMLS:C3854478 Unspecified -Orphanet:283 Demodicidosis oboInOwl:hasDbXref ICD10:B88.0 Unspecified -Orphanet:283 Demodicidosis skos:exactMatch UMLS:C3854478 Unspecified -Orphanet:283 Demodicidosis skos:broadMatch ICD10:B88.0 Unspecified -Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref OMIM:271250 Unspecified -Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref UMLS:C1849094 Unspecified -Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome skos:exactMatch OMIM:271250 Unspecified -Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome skos:exactMatch UMLS:C1849094 Unspecified -Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref OMIM:607317 Unspecified -Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref UMLS:C1846492 Unspecified -Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome skos:exactMatch OMIM:607317 Unspecified -Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome skos:exactMatch UMLS:C1846492 Unspecified -Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268337 Unspecified -Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130020 Unspecified -Orphanet:285 Hypermobile Ehlers-Danlos syndrome skos:exactMatch OMIM:130020 Unspecified -Orphanet:285 Hypermobile Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:285 Hypermobile Ehlers-Danlos syndrome skos:exactMatch UMLS:C0268337 Unspecified -Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref ICD10:H46 Unspecified -Orphanet:499096 Isolated optic neuritis skos:broadMatch ICD10:H46 Unspecified -Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref UMLS:C0432215 Unspecified -Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref MESH:C535387 Unspecified -Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref OMIM:208230 Unspecified -Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood skos:exactMatch OMIM:208230 Unspecified -Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood skos:exactMatch UMLS:C0432215 Unspecified -Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood skos:exactMatch MESH:C535387 Unspecified -Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref MedDRA:10053042 Unspecified -Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.6 Unspecified -Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref UMLS:C0948954 Unspecified -Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref MESH:C536591 Unspecified -Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.5 Unspecified -Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.7 Unspecified -Orphanet:284 Alveolar echinococcosis skos:exactMatch MedDRA:10053042 Unspecified -Orphanet:284 Alveolar echinococcosis skos:narrowMatch ICD10:B67.5 Unspecified -Orphanet:284 Alveolar echinococcosis skos:narrowMatch ICD10:B67.7 Unspecified -Orphanet:284 Alveolar echinococcosis skos:narrowMatch ICD10:B67.6 Unspecified -Orphanet:284 Alveolar echinococcosis skos:exactMatch UMLS:C0948954 Unspecified -Orphanet:284 Alveolar echinococcosis skos:exactMatch MESH:C536591 Unspecified -Orphanet:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0220679 Unspecified -Orphanet:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130000 Unspecified -Orphanet:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130010 Unspecified -Orphanet:287 Classical Ehlers-Danlos syndrome skos:exactMatch OMIM:130010 Unspecified -Orphanet:287 Classical Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:287 Classical Ehlers-Danlos syndrome skos:exactMatch OMIM:130000 Unspecified -Orphanet:287 Classical Ehlers-Danlos syndrome skos:exactMatch UMLS:C0220679 Unspecified -Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref OMIM:611521 Unspecified -Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref UMLS:C1969086 Unspecified -Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref ICD10:D82.4 Unspecified -Orphanet:331226 Susceptibility to infection due to TYK2 deficiency skos:broadMatch ICD10:D82.4 Unspecified -Orphanet:331226 Susceptibility to infection due to TYK2 deficiency skos:exactMatch UMLS:C1969086 Unspecified -Orphanet:331226 Susceptibility to infection due to TYK2 deficiency skos:exactMatch OMIM:611521 Unspecified -Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130050 Unspecified -Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268338 Unspecified -Orphanet:286 Vascular Ehlers-Danlos syndrome skos:exactMatch UMLS:C0268338 Unspecified -Orphanet:286 Vascular Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:286 Vascular Ehlers-Danlos syndrome skos:exactMatch OMIM:130050 Unspecified -Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome oboInOwl:hasDbXref ICD10:F78.1 Unspecified -Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome oboInOwl:hasDbXref OMIM:616269 Unspecified -Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:exactMatch OMIM:616269 Unspecified -Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:broadMatch ICD10:F78.1 Unspecified -Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref OMIM:615978 Unspecified -Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch OMIM:615978 Unspecified -Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref MESH:D012410 Unspecified -Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref ICD10:P35.0 Unspecified -Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref UMLS:C0035921 Unspecified -Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref MedDRA:10010618 Unspecified -Orphanet:290 Congenital rubella syndrome skos:exactMatch UMLS:C0035921 Unspecified -Orphanet:290 Congenital rubella syndrome skos:exactMatch MedDRA:10010618 Unspecified -Orphanet:290 Congenital rubella syndrome skos:exactMatch ICD10:P35.0 Unspecified -Orphanet:290 Congenital rubella syndrome skos:exactMatch MESH:D012410 Unspecified -Orphanet:38874 Dihydropyrimidinuria oboInOwl:hasDbXref UMLS:C0342803 Unspecified -Orphanet:38874 Dihydropyrimidinuria oboInOwl:hasDbXref UMLS:C3495551 Unspecified -Orphanet:38874 Dihydropyrimidinuria oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:38874 Dihydropyrimidinuria oboInOwl:hasDbXref OMIM:222748 Unspecified -Orphanet:38874 Dihydropyrimidinuria skos:exactMatch UMLS:C0342803 Unspecified -Orphanet:38874 Dihydropyrimidinuria skos:exactMatch UMLS:C3495551 Unspecified -Orphanet:38874 Dihydropyrimidinuria skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:38874 Dihydropyrimidinuria skos:exactMatch OMIM:222748 Unspecified -Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref UMLS:C0006666 Unspecified -Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref MedDRA:10051714 Unspecified -Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref ICD10:E83.5 Unspecified -Orphanet:280062 Calciphylaxis skos:exactMatch UMLS:C0006666 Unspecified -Orphanet:280062 Calciphylaxis skos:exactMatch MedDRA:10051714 Unspecified -Orphanet:280062 Calciphylaxis skos:broadMatch ICD10:E83.5 Unspecified -Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.4 Unspecified -Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma skos:broadMatch ICD10:C84.4 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref MedDRA:10066367 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref OMIM:102700 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref MESH:C531816 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref UMLS:C0268124 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref UMLS:C0392607 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref ICD10:D81.3 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency skos:exactMatch UMLS:C0392607 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency skos:exactMatch ICD10:D81.3 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency skos:exactMatch UMLS:C0268124 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency skos:exactMatch MESH:C531816 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency skos:exactMatch OMIM:102700 Unspecified -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency skos:exactMatch MedDRA:10066367 Unspecified -Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref ICD10:K29.6 Unspecified -Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref UMLS:C0017155 Unspecified -Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref OMIM:137280 Unspecified -Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref MedDRA:10017807 Unspecified -Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref UMLS:C2936660 Unspecified -Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref MedDRA:10017868 Unspecified -Orphanet:2494 Ménétrier disease skos:exactMatch MedDRA:10017807 Unspecified -Orphanet:2494 Ménétrier disease skos:exactMatch OMIM:137280 Unspecified -Orphanet:2494 Ménétrier disease skos:exactMatch UMLS:C0017155 Unspecified -Orphanet:2494 Ménétrier disease skos:exactMatch MedDRA:10017868 Unspecified -Orphanet:2494 Ménétrier disease skos:broadMatch ICD10:K29.6 Unspecified -Orphanet:2494 Ménétrier disease skos:exactMatch UMLS:C2936660 Unspecified -Orphanet:1163 Aspergillosis oboInOwl:hasDbXref MESH:D001228 Unspecified -Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.1 Unspecified -Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.7 Unspecified -Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.9 Unspecified -Orphanet:1163 Aspergillosis oboInOwl:hasDbXref MedDRA:10003488 Unspecified -Orphanet:1163 Aspergillosis oboInOwl:hasDbXref UMLS:C0004030 Unspecified -Orphanet:1163 Aspergillosis oboInOwl:hasDbXref OMIM:614079 Unspecified -Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.0 Unspecified -Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.2 Unspecified -Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.8 Unspecified -Orphanet:1163 Aspergillosis skos:narrowMatch ICD10:B44.9 Unspecified -Orphanet:1163 Aspergillosis skos:narrowMatch ICD10:B44.1 Unspecified -Orphanet:1163 Aspergillosis skos:narrowMatch ICD10:B44.7 Unspecified -Orphanet:1163 Aspergillosis skos:exactMatch MedDRA:10003488 Unspecified -Orphanet:1163 Aspergillosis skos:exactMatch UMLS:C0004030 Unspecified -Orphanet:1163 Aspergillosis skos:narrowMatch OMIM:614079 Unspecified -Orphanet:1163 Aspergillosis skos:narrowMatch ICD10:B44.8 Unspecified -Orphanet:1163 Aspergillosis skos:narrowMatch ICD10:B44.2 Unspecified -Orphanet:1163 Aspergillosis skos:narrowMatch ICD10:B44.0 Unspecified -Orphanet:1163 Aspergillosis skos:exactMatch MESH:D001228 Unspecified -Orphanet:1160 Chylous ascites oboInOwl:hasDbXref ICD10:I89.8 Unspecified -Orphanet:1160 Chylous ascites oboInOwl:hasDbXref MedDRA:10003446 Unspecified -Orphanet:1160 Chylous ascites oboInOwl:hasDbXref OMIM:208300 Unspecified -Orphanet:1160 Chylous ascites oboInOwl:hasDbXref UMLS:C0008732 Unspecified -Orphanet:1160 Chylous ascites oboInOwl:hasDbXref MESH:D002915 Unspecified -Orphanet:1160 Chylous ascites skos:broadMatch ICD10:I89.8 Unspecified -Orphanet:1160 Chylous ascites skos:exactMatch MESH:D002915 Unspecified -Orphanet:1160 Chylous ascites skos:exactMatch UMLS:C0008732 Unspecified -Orphanet:1160 Chylous ascites skos:exactMatch OMIM:208300 Unspecified -Orphanet:1160 Chylous ascites skos:exactMatch MedDRA:10003446 Unspecified -Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency oboInOwl:hasDbXref OMIM:616126 Unspecified -Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch OMIM:616126 Unspecified -Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref OMIM:164300 Unspecified -Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MedDRA:10052181 Unspecified -Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref UMLS:C0270952 Unspecified -Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MESH:D039141 Unspecified -Orphanet:270 Oculopharyngeal muscular dystrophy skos:exactMatch OMIM:164300 Unspecified -Orphanet:270 Oculopharyngeal muscular dystrophy skos:exactMatch MESH:D039141 Unspecified -Orphanet:270 Oculopharyngeal muscular dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:270 Oculopharyngeal muscular dystrophy skos:exactMatch UMLS:C0270952 Unspecified -Orphanet:270 Oculopharyngeal muscular dystrophy skos:exactMatch MedDRA:10052181 Unspecified -Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref MedDRA:10061981 Unspecified -Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref UMLS:C1262087 Unspecified -Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref MESH:D050798 Unspecified -Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref ICD10:G44.8 Unspecified -Orphanet:57145 SUNCT syndrome skos:exactMatch UMLS:C1262087 Unspecified -Orphanet:57145 SUNCT syndrome skos:exactMatch MESH:D050798 Unspecified -Orphanet:57145 SUNCT syndrome skos:broadMatch ICD10:G44.8 Unspecified -Orphanet:57145 SUNCT syndrome skos:exactMatch MedDRA:10061981 Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref UMLS:C0004031 Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10:B44.1+ Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref OMIM:103920 Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MedDRA:10006474 Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MESH:D001229 Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10:J99.8* Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis skos:broadMatch ICD10:B44.1+ Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis skos:narrowMatch OMIM:103920 Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis skos:broadMatch ICD10:J99.8* Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis skos:exactMatch MESH:D001229 Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis skos:exactMatch MedDRA:10006474 Unspecified -Orphanet:1164 Allergic bronchopulmonary aspergillosis skos:exactMatch UMLS:C0004031 Unspecified -Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref MedDRA:10057473 Unspecified -Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref OMIM:231200 Unspecified -Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref OMIM:153670 Unspecified -Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref MESH:D001606 Unspecified -Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref ICD10:D69.1 Unspecified -Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref UMLS:C0005129 Unspecified -Orphanet:274 Bernard-Soulier syndrome skos:broadMatch ICD10:D69.1 Unspecified -Orphanet:274 Bernard-Soulier syndrome skos:exactMatch UMLS:C0005129 Unspecified -Orphanet:274 Bernard-Soulier syndrome skos:narrowMatch OMIM:153670 Unspecified -Orphanet:274 Bernard-Soulier syndrome skos:exactMatch OMIM:231200 Unspecified -Orphanet:274 Bernard-Soulier syndrome skos:exactMatch MedDRA:10057473 Unspecified -Orphanet:274 Bernard-Soulier syndrome skos:exactMatch MESH:D001606 Unspecified -Orphanet:2495 Meningioma oboInOwl:hasDbXref MESH:D008579 Unspecified -Orphanet:2495 Meningioma oboInOwl:hasDbXref MedDRA:10027191 Unspecified -Orphanet:2495 Meningioma oboInOwl:hasDbXref OMIM:606190 Unspecified -Orphanet:2495 Meningioma oboInOwl:hasDbXref ICD10:D32.9 Unspecified -Orphanet:2495 Meningioma oboInOwl:hasDbXref UMLS:C0025286 Unspecified -Orphanet:2495 Meningioma skos:exactMatch UMLS:C0025286 Unspecified -Orphanet:2495 Meningioma skos:narrowMatch OMIM:606190 Unspecified -Orphanet:2495 Meningioma skos:broadMatch ICD10:D32.9 Unspecified -Orphanet:2495 Meningioma skos:exactMatch MedDRA:10027191 Unspecified -Orphanet:2495 Meningioma skos:exactMatch MESH:D008579 Unspecified -Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref ICD10:D80.4 Unspecified -Orphanet:331235 Selective IgM deficiency skos:exactMatch ICD10:D80.4 Unspecified -Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 Unspecified -Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref MESH:C538008 Unspecified -Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C2931688 Unspecified -Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 Unspecified -Orphanet:273 Steinert myotonic dystrophy skos:exactMatch UMLS:C2931688 Unspecified -Orphanet:273 Steinert myotonic dystrophy skos:exactMatch MESH:C538008 Unspecified -Orphanet:273 Steinert myotonic dystrophy skos:broadMatch ICD10:G71.1 Unspecified -Orphanet:273 Steinert myotonic dystrophy skos:exactMatch OMIM:160900 Unspecified -Orphanet:293375 Grayson-Wilbrandt corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:293375 Grayson-Wilbrandt corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref OMIM:209950 Unspecified -Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:broadMatch OMIM:209950 Unspecified -Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency oboInOwl:hasDbXref OMIM:300400 Unspecified -Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency oboInOwl:hasDbXref UMLS:C2931540 Unspecified -Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency oboInOwl:hasDbXref ICD10:D81.2 Unspecified -Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:broadMatch ICD10:D81.2 Unspecified -Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch UMLS:C2931540 Unspecified -Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch OMIM:300400 Unspecified -Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref ICD10:D81.1 Unspecified -Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref OMIM:602450 Unspecified -Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref UMLS:C1865372 Unspecified -Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch UMLS:C1865372 Unspecified -Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency skos:broadMatch ICD10:D81.1 Unspecified -Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency skos:broadMatch OMIM:602450 Unspecified -Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref UMLS:C1859598 Unspecified -Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref OMIM:208920 Unspecified -Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref ICD10:G11.3 Unspecified -Orphanet:1168 Ataxia-oculomotor apraxia type 1 skos:exactMatch OMIM:208920 Unspecified -Orphanet:1168 Ataxia-oculomotor apraxia type 1 skos:broadMatch ICD10:G11.3 Unspecified -Orphanet:1168 Ataxia-oculomotor apraxia type 1 skos:exactMatch UMLS:C1859598 Unspecified -Orphanet:95428 COG8-CDG oboInOwl:hasDbXref OMIM:611182 Unspecified -Orphanet:95428 COG8-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:95428 COG8-CDG oboInOwl:hasDbXref UMLS:C1970021 Unspecified -Orphanet:95428 COG8-CDG skos:exactMatch UMLS:C1970021 Unspecified -Orphanet:95428 COG8-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:95428 COG8-CDG skos:exactMatch OMIM:611182 Unspecified -Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref ICD10:L81.7 Unspecified -Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref OMIM:300652 Unspecified -Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref OMIM:106050 Unspecified -Orphanet:95429 Angioma serpiginosum skos:narrowMatch OMIM:300652 Unspecified -Orphanet:95429 Angioma serpiginosum skos:narrowMatch OMIM:106050 Unspecified -Orphanet:95429 Angioma serpiginosum skos:broadMatch ICD10:L81.7 Unspecified -Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect oboInOwl:hasDbXref OMIM:617872 Unspecified -Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:exactMatch OMIM:617872 Unspecified -Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome oboInOwl:hasDbXref OMIM:604416 Unspecified -Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome oboInOwl:hasDbXref MESH:C536253 Unspecified -Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome oboInOwl:hasDbXref UMLS:C1858361 Unspecified -Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch UMLS:C1858361 Unspecified -Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch MESH:C536253 Unspecified -Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch OMIM:604416 Unspecified -Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref OMIM:170390 Unspecified -Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref UMLS:C1563715 Unspecified -Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref ICD10:G72.3 Unspecified -Orphanet:37553 Andersen-Tawil syndrome skos:broadMatch ICD10:G72.3 Unspecified -Orphanet:37553 Andersen-Tawil syndrome skos:exactMatch UMLS:C1563715 Unspecified -Orphanet:37553 Andersen-Tawil syndrome skos:exactMatch OMIM:170390 Unspecified -Orphanet:95427 Secondary short bowel syndrome oboInOwl:hasDbXref ICD10:K91.2 Unspecified -Orphanet:95427 Secondary short bowel syndrome skos:narrowMatch ICD10:K91.2 Unspecified -Orphanet:280071 ALG11-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:280071 ALG11-CDG oboInOwl:hasDbXref OMIM:613661 Unspecified -Orphanet:280071 ALG11-CDG skos:exactMatch OMIM:613661 Unspecified -Orphanet:280071 ALG11-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:83453 Vulvovaginal gingival syndrome oboInOwl:hasDbXref ICD10:L43.8 Unspecified -Orphanet:83453 Vulvovaginal gingival syndrome skos:broadMatch ICD10:L43.8 Unspecified -Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref OMIM:602014 Unspecified -Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref ICD10:E83.4 Unspecified -Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref UMLS:C1865974 Unspecified -Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia skos:exactMatch UMLS:C1865974 Unspecified -Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia skos:broadMatch ICD10:E83.4 Unspecified -Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia skos:exactMatch OMIM:602014 Unspecified -Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref OMIM:604335 Unspecified -Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref UMLS:C0458219 Unspecified -Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref ICD10:G90.6 Unspecified -Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref MESH:D020918 Unspecified -Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref MedDRA:10064332 Unspecified -Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref ICD10:G90.5 Unspecified -Orphanet:83452 Complex regional pain syndrome skos:narrowMatch ICD10:G90.6 Unspecified -Orphanet:83452 Complex regional pain syndrome skos:exactMatch MedDRA:10064332 Unspecified -Orphanet:83452 Complex regional pain syndrome skos:narrowMatch OMIM:604335 Unspecified -Orphanet:83452 Complex regional pain syndrome skos:exactMatch MESH:D020918 Unspecified -Orphanet:83452 Complex regional pain syndrome skos:narrowMatch ICD10:G90.5 Unspecified -Orphanet:83452 Complex regional pain syndrome skos:exactMatch UMLS:C0458219 Unspecified -Orphanet:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref ICD10:C82.6 Unspecified -Orphanet:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref UMLS:C1333171 Unspecified -Orphanet:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref UMLS:C1631066 Unspecified -Orphanet:178540 Primary cutaneous follicle center lymphoma skos:exactMatch UMLS:C1333171 Unspecified -Orphanet:178540 Primary cutaneous follicle center lymphoma skos:exactMatch UMLS:C1631066 Unspecified -Orphanet:178540 Primary cutaneous follicle center lymphoma skos:exactMatch ICD10:C82.6 Unspecified -Orphanet:37559 Acquired kinky hair syndrome oboInOwl:hasDbXref ICD10:L67.8 Unspecified -Orphanet:37559 Acquired kinky hair syndrome skos:broadMatch ICD10:L67.8 Unspecified -Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type oboInOwl:hasDbXref ICD10:C83.3 Unspecified -Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type skos:broadMatch ICD10:C83.3 Unspecified -Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref UMLS:C0555197 Unspecified -Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.4 Unspecified -Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref MESH:C537063 Unspecified -Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.5 Unspecified -Orphanet:83451 Florid cemento-osseous dysplasia skos:broadMatch ICD10:D16.5 Unspecified -Orphanet:83451 Florid cemento-osseous dysplasia skos:exactMatch UMLS:C0555197 Unspecified -Orphanet:83451 Florid cemento-osseous dysplasia skos:broadMatch ICD10:D16.4 Unspecified -Orphanet:83451 Florid cemento-osseous dysplasia skos:exactMatch MESH:C537063 Unspecified -Orphanet:83450 Regional odontodysplasia oboInOwl:hasDbXref ICD10:K00.4 Unspecified -Orphanet:83450 Regional odontodysplasia skos:broadMatch ICD10:K00.4 Unspecified -Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref ICD10:G11.0 Unspecified -Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref UMLS:C1859298 Unspecified -Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref OMIM:213200 Unspecified -Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 skos:exactMatch UMLS:C1859298 Unspecified -Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 skos:exactMatch OMIM:213200 Unspecified -Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 skos:broadMatch ICD10:G11.0 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.6 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.8 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.2 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.0 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.9 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.5 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.7 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.1 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.3 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder skos:narrowMatch ICD10:C67.1 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder skos:narrowMatch ICD10:C67.9 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder skos:narrowMatch ICD10:C67.7 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder skos:narrowMatch ICD10:C67.5 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder skos:narrowMatch ICD10:C67.3 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder skos:narrowMatch ICD10:C67.2 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder skos:narrowMatch ICD10:C67.0 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder skos:narrowMatch ICD10:C67.8 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder skos:narrowMatch ICD10:C67.6 Unspecified -Orphanet:284400 Small cell carcinoma of the bladder skos:narrowMatch ICD10:C67.4 Unspecified -Orphanet:36238 Staphylococcal necrotizing pneumonia oboInOwl:hasDbXref ICD10:J15.2 Unspecified -Orphanet:36238 Staphylococcal necrotizing pneumonia skos:broadMatch ICD10:J15.2 Unspecified -Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref OMIM:605672 Unspecified -Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref OMIM:212840 Unspecified -Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C1859305 Unspecified -Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome skos:exactMatch OMIM:212840 Unspecified -Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome skos:narrowMatch OMIM:605672 Unspecified -Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome skos:exactMatch UMLS:C1859305 Unspecified -Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:36237 Bullous impetigo oboInOwl:hasDbXref ICD10:L01.0 Unspecified -Orphanet:36237 Bullous impetigo oboInOwl:hasDbXref MedDRA:10006563 Unspecified -Orphanet:36237 Bullous impetigo oboInOwl:hasDbXref UMLS:C0021100 Unspecified -Orphanet:36237 Bullous impetigo skos:broadMatch ICD10:L01.0 Unspecified -Orphanet:36237 Bullous impetigo skos:exactMatch MedDRA:10006563 Unspecified -Orphanet:36237 Bullous impetigo skos:exactMatch UMLS:C0021100 Unspecified -Orphanet:263501 COG4-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:263501 COG4-CDG oboInOwl:hasDbXref OMIM:613489 Unspecified -Orphanet:263501 COG4-CDG skos:exactMatch OMIM:613489 Unspecified -Orphanet:263501 COG4-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome oboInOwl:hasDbXref OMIM:601338 Unspecified -Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome oboInOwl:hasDbXref UMLS:C1832466 Unspecified -Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch UMLS:C1832466 Unspecified -Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch OMIM:601338 Unspecified -Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref MedDRA:10041929 Unspecified -Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref MESH:D013206 Unspecified -Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref ICD10:L00 Unspecified -Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref UMLS:C0038165 Unspecified -Orphanet:36236 Staphylococcal scalded skin syndrome skos:exactMatch MedDRA:10041929 Unspecified -Orphanet:36236 Staphylococcal scalded skin syndrome skos:exactMatch MESH:D013206 Unspecified -Orphanet:36236 Staphylococcal scalded skin syndrome skos:exactMatch UMLS:C0038165 Unspecified -Orphanet:36236 Staphylococcal scalded skin syndrome skos:exactMatch ICD10:L00 Unspecified -Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref UMLS:C1848932 Unspecified -Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref OMIM:272600 Unspecified -Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome skos:exactMatch OMIM:272600 Unspecified -Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome skos:exactMatch UMLS:C1848932 Unspecified -Orphanet:36235 Staphylococcal scarlet fever oboInOwl:hasDbXref ICD10:A38 Unspecified -Orphanet:36235 Staphylococcal scarlet fever skos:broadMatch ICD10:A38 Unspecified -Orphanet:36234 Bacterial toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 Unspecified -Orphanet:36234 Bacterial toxic-shock syndrome skos:exactMatch ICD10:A48.3 Unspecified -Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency oboInOwl:hasDbXref OMIM:614892 Unspecified -Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch OMIM:614892 Unspecified -Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref UMLS:C0393520 Unspecified -Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref MESH:C535633 Unspecified -Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref OMIM:212895 Unspecified -Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch MESH:C535633 Unspecified -Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch OMIM:212895 Unspecified -Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch UMLS:C0393520 Unspecified -Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:1175 X-linked progressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:1175 X-linked progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:302500 Unspecified -Orphanet:1175 X-linked progressive cerebellar ataxia skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:1175 X-linked progressive cerebellar ataxia skos:broadMatch OMIM:302500 Unspecified -Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref ICD10:G96.8 Unspecified -Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref UMLS:C1868576 Unspecified -Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref OMIM:168885 Unspecified -Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch OMIM:168885 Unspecified -Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia skos:broadMatch ICD10:G96.8 Unspecified -Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch UMLS:C1868576 Unspecified -Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 Unspecified -Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy skos:broadMatch ICD10:I67.8 Unspecified -Orphanet:263508 COG1-CDG oboInOwl:hasDbXref OMIM:611209 Unspecified -Orphanet:263508 COG1-CDG oboInOwl:hasDbXref UMLS:C2931011 Unspecified -Orphanet:263508 COG1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:263508 COG1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:263508 COG1-CDG skos:exactMatch OMIM:611209 Unspecified -Orphanet:263508 COG1-CDG skos:exactMatch UMLS:C2931011 Unspecified -Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref OMIM:601457 Unspecified -Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref ICD10:D81.1 Unspecified -Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref UMLS:C1832322 Unspecified -Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency skos:exactMatch OMIM:601457 Unspecified -Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency skos:broadMatch ICD10:D81.1 Unspecified -Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency skos:exactMatch UMLS:C1832322 Unspecified -Orphanet:519406 Thygeson superficial punctate keratitis oboInOwl:hasDbXref ICD10:H16.1 Unspecified -Orphanet:519406 Thygeson superficial punctate keratitis skos:broadMatch ICD10:H16.1 Unspecified -Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref ICD10:E83.2 Unspecified -Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref OMIM:194470 Unspecified -Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref UMLS:C1860229 Unspecified -Orphanet:251523 Hyperzincemia and hypercalprotectinemia skos:exactMatch UMLS:C1860229 Unspecified -Orphanet:251523 Hyperzincemia and hypercalprotectinemia skos:broadMatch ICD10:E83.2 Unspecified -Orphanet:251523 Hyperzincemia and hypercalprotectinemia skos:broadMatch OMIM:194470 Unspecified -Orphanet:519408 Mooren ulcer oboInOwl:hasDbXref ICD10:H16.0 Unspecified -Orphanet:519408 Mooren ulcer skos:broadMatch ICD10:H16.0 Unspecified -Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome oboInOwl:hasDbXref UMLS:C1859093 Unspecified -Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome oboInOwl:hasDbXref OMIM:215470 Unspecified -Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch OMIM:215470 Unspecified -Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch UMLS:C1859093 Unspecified -Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome oboInOwl:hasDbXref OMIM:271270 Unspecified -Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1849088 Unspecified -Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch UMLS:C1849088 Unspecified -Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch OMIM:271270 Unspecified -Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:238557 Chuvash erythrocytosis oboInOwl:hasDbXref OMIM:263400 Unspecified -Orphanet:238557 Chuvash erythrocytosis oboInOwl:hasDbXref ICD10:D75.1 Unspecified -Orphanet:238557 Chuvash erythrocytosis skos:broadMatch ICD10:D75.1 Unspecified -Orphanet:238557 Chuvash erythrocytosis skos:exactMatch OMIM:263400 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref ICD10:G25.3 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref UMLS:C1096154 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref MESH:D053578 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref UMLS:C0393626 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref UMLS:C1721017 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref MedDRA:10053854 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome skos:exactMatch UMLS:C1721017 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome skos:exactMatch MedDRA:10053854 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome skos:exactMatch MESH:D053578 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome skos:exactMatch UMLS:C0393626 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome skos:exactMatch UMLS:C1096154 Unspecified -Orphanet:1183 Opsoclonus-myoclonus syndrome skos:broadMatch ICD10:G25.3 Unspecified -Orphanet:1182 Spastic ataxia with congenital miosis oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:1182 Spastic ataxia with congenital miosis oboInOwl:hasDbXref UMLS:C1862441 Unspecified -Orphanet:1182 Spastic ataxia with congenital miosis oboInOwl:hasDbXref OMIM:108650 Unspecified -Orphanet:1182 Spastic ataxia with congenital miosis skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:1182 Spastic ataxia with congenital miosis skos:exactMatch UMLS:C1862441 Unspecified -Orphanet:1182 Spastic ataxia with congenital miosis skos:exactMatch OMIM:108650 Unspecified -Orphanet:292 Congenital enterovirus infection oboInOwl:hasDbXref ICD10:P35.8 Unspecified -Orphanet:292 Congenital enterovirus infection skos:broadMatch ICD10:P35.8 Unspecified -Orphanet:291 Congenital varicella syndrome oboInOwl:hasDbXref ICD10:P35.8 Unspecified -Orphanet:291 Congenital varicella syndrome skos:exactMatch ICD10:P35.8 Unspecified -Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref OMIM:301835 Unspecified -Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref UMLS:C0796028 Unspecified -Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref MESH:C535388 Unspecified -Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:1187 Lethal ataxia with deafness and optic atrophy skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:1187 Lethal ataxia with deafness and optic atrophy skos:exactMatch MESH:C535388 Unspecified -Orphanet:1187 Lethal ataxia with deafness and optic atrophy skos:exactMatch UMLS:C0796028 Unspecified -Orphanet:1187 Lethal ataxia with deafness and optic atrophy skos:exactMatch OMIM:301835 Unspecified -Orphanet:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref ICD10:P35.1 Unspecified -Orphanet:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref UMLS:C0349499 Unspecified -Orphanet:294 Fetal cytomegalovirus syndrome skos:exactMatch ICD10:P35.1 Unspecified -Orphanet:294 Fetal cytomegalovirus syndrome skos:exactMatch UMLS:C0349499 Unspecified -Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref MESH:C535523 Unspecified -Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1849096 Unspecified -Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref OMIM:271245 Unspecified -Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:1186 Infantile-onset spinocerebellar ataxia skos:exactMatch OMIM:271245 Unspecified -Orphanet:1186 Infantile-onset spinocerebellar ataxia skos:exactMatch UMLS:C1849096 Unspecified -Orphanet:1186 Infantile-onset spinocerebellar ataxia skos:exactMatch MESH:C535523 Unspecified -Orphanet:1186 Infantile-onset spinocerebellar ataxia skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:293 Congenital herpes simplex virus infection oboInOwl:hasDbXref ICD10:P35.2 Unspecified -Orphanet:293 Congenital herpes simplex virus infection skos:broadMatch ICD10:P35.2 Unspecified -Orphanet:595133 Perivascular epithelioid cell neoplasm oboInOwl:hasDbXref ICD10:D21.9 Unspecified -Orphanet:595133 Perivascular epithelioid cell neoplasm skos:broadMatch ICD10:D21.9 Unspecified -Orphanet:296 Ollier disease oboInOwl:hasDbXref MedDRA:10014642 Unspecified -Orphanet:296 Ollier disease oboInOwl:hasDbXref UMLS:C0013366 Unspecified -Orphanet:296 Ollier disease oboInOwl:hasDbXref OMIM:166000 Unspecified -Orphanet:296 Ollier disease oboInOwl:hasDbXref UMLS:C0014084 Unspecified -Orphanet:296 Ollier disease oboInOwl:hasDbXref ICD10:Q78.4 Unspecified -Orphanet:296 Ollier disease oboInOwl:hasDbXref MESH:D004687 Unspecified -Orphanet:296 Ollier disease skos:exactMatch UMLS:C0014084 Unspecified -Orphanet:296 Ollier disease skos:exactMatch OMIM:166000 Unspecified -Orphanet:296 Ollier disease skos:exactMatch UMLS:C0013366 Unspecified -Orphanet:296 Ollier disease skos:exactMatch MedDRA:10014642 Unspecified -Orphanet:296 Ollier disease skos:exactMatch ICD10:Q78.4 Unspecified -Orphanet:296 Ollier disease skos:exactMatch MESH:D004687 Unspecified -Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:499085 Chronic relapsing inflammatory optic neuropathy oboInOwl:hasDbXref ICD10:H46 Unspecified -Orphanet:499085 Chronic relapsing inflammatory optic neuropathy skos:broadMatch ICD10:H46 Unspecified -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:603041 Unspecified -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:613662 Unspecified -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref UMLS:C0872218 Unspecified -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:612075 Unspecified -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy skos:broadMatch OMIM:612075 Unspecified -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy skos:broadMatch OMIM:603041 Unspecified -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy skos:exactMatch UMLS:C0872218 Unspecified -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy skos:broadMatch OMIM:613662 Unspecified -Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.8 Unspecified -Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.0 Unspecified -Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref UMLS:C0014061 Unspecified -Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref MedDRA:10043848 Unspecified -Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.9 Unspecified -Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.1 Unspecified -Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref MESH:D004675 Unspecified -Orphanet:297 Tick-borne encephalitis skos:exactMatch MESH:D004675 Unspecified -Orphanet:297 Tick-borne encephalitis skos:narrowMatch ICD10:A84.8 Unspecified -Orphanet:297 Tick-borne encephalitis skos:narrowMatch ICD10:A84.0 Unspecified -Orphanet:297 Tick-borne encephalitis skos:exactMatch MedDRA:10043848 Unspecified -Orphanet:297 Tick-borne encephalitis skos:narrowMatch ICD10:A84.9 Unspecified -Orphanet:297 Tick-borne encephalitis skos:narrowMatch ICD10:A84.1 Unspecified -Orphanet:297 Tick-borne encephalitis skos:exactMatch UMLS:C0014061 Unspecified -Orphanet:519410 Terrien marginal degeneration oboInOwl:hasDbXref ICD10:H18.4 Unspecified -Orphanet:519410 Terrien marginal degeneration skos:broadMatch ICD10:H18.4 Unspecified -Orphanet:542657 Isolated hyperchlorhidrosis oboInOwl:hasDbXref OMIM:143860 Unspecified -Orphanet:542657 Isolated hyperchlorhidrosis skos:exactMatch OMIM:143860 Unspecified -Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:457246 Clear cell sarcoma of kidney skos:broadMatch ICD10:C64 Unspecified -Orphanet:369913 Combined oxidative phosphorylation defect type 17 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:369913 Combined oxidative phosphorylation defect type 17 oboInOwl:hasDbXref OMIM:615440 Unspecified -Orphanet:369913 Combined oxidative phosphorylation defect type 17 skos:exactMatch OMIM:615440 Unspecified -Orphanet:369913 Combined oxidative phosphorylation defect type 17 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:51890 Anterior cutaneous nerve entrapment syndrome oboInOwl:hasDbXref ICD10:G58.0 Unspecified -Orphanet:51890 Anterior cutaneous nerve entrapment syndrome skos:broadMatch ICD10:G58.0 Unspecified -Orphanet:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref ICD10:C18.1 Unspecified -Orphanet:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref UMLS:C1706832 Unspecified -Orphanet:391723 Mucinous adenocarcinoma of the appendix skos:exactMatch UMLS:C1706832 Unspecified -Orphanet:391723 Mucinous adenocarcinoma of the appendix skos:broadMatch ICD10:C18.1 Unspecified -Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref OMIM:612567 Unspecified -Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref ICD10:K52.8 Unspecified -Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref OMIM:613148 Unspecified -Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:narrowMatch OMIM:613148 Unspecified -Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:narrowMatch OMIM:612567 Unspecified -Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:broadMatch ICD10:K52.8 Unspecified -Orphanet:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref OMIM:614212 Unspecified -Orphanet:263524 Acute necrotizing encephalopathy of childhood skos:narrowMatch OMIM:614212 Unspecified -Orphanet:263524 Acute necrotizing encephalopathy of childhood skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:36258 Buerger disease oboInOwl:hasDbXref ICD10:I73.1 Unspecified -Orphanet:36258 Buerger disease oboInOwl:hasDbXref UMLS:C0040021 Unspecified -Orphanet:36258 Buerger disease oboInOwl:hasDbXref OMIM:211480 Unspecified -Orphanet:36258 Buerger disease skos:exactMatch OMIM:211480 Unspecified -Orphanet:36258 Buerger disease skos:exactMatch UMLS:C0040021 Unspecified -Orphanet:36258 Buerger disease skos:exactMatch ICD10:I73.1 Unspecified -Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref ICD10:E03.1 Unspecified -Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref OMIM:618573 Unspecified -Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome skos:exactMatch OMIM:618573 Unspecified -Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome skos:broadMatch ICD10:E03.1 Unspecified -Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref UMLS:C3151205 Unspecified -Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref OMIM:613839 Unspecified -Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref ICD10:D52.8 Unspecified -Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease skos:broadMatch ICD10:D52.8 Unspecified -Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch OMIM:613839 Unspecified -Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch UMLS:C3151205 Unspecified -Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref UMLS:C0752125 Unspecified -Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref OMIM:164500 Unspecified -Orphanet:94147 Spinocerebellar ataxia type 7 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:94147 Spinocerebellar ataxia type 7 skos:exactMatch OMIM:164500 Unspecified -Orphanet:94147 Spinocerebellar ataxia type 7 skos:exactMatch UMLS:C0752125 Unspecified -Orphanet:57196 Medial condensing osteitis of the clavicle oboInOwl:hasDbXref ICD10:M85.3 Unspecified -Orphanet:57196 Medial condensing osteitis of the clavicle skos:broadMatch ICD10:M85.3 Unspecified -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref OMIM:607271 Unspecified -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref ICD10:D47.9 Unspecified -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref UMLS:C1846545 Unspecified -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections skos:broadMatch ICD10:D47.9 Unspecified -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections skos:exactMatch UMLS:C1846545 Unspecified -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections skos:exactMatch OMIM:607271 Unspecified -Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref MedDRA:10037556 Unspecified -Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref MESH:D014884 Unspecified -Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref ICD10:D65 Unspecified -Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref MESH:D055665 Unspecified -Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref UMLS:C0085650 Unspecified -Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref UMLS:C0043068 Unspecified -Orphanet:49566 Acquired purpura fulminans skos:exactMatch UMLS:C0043068 Unspecified -Orphanet:49566 Acquired purpura fulminans skos:exactMatch MESH:D055665 Unspecified -Orphanet:49566 Acquired purpura fulminans skos:exactMatch UMLS:C0085650 Unspecified -Orphanet:49566 Acquired purpura fulminans skos:broadMatch ICD10:D65 Unspecified -Orphanet:49566 Acquired purpura fulminans skos:exactMatch MedDRA:10037556 Unspecified -Orphanet:49566 Acquired purpura fulminans skos:exactMatch MESH:D014884 Unspecified -Orphanet:83482 Mycoplasma encephalitis oboInOwl:hasDbXref ICD10:B96.0 Unspecified -Orphanet:83482 Mycoplasma encephalitis skos:broadMatch ICD10:B96.0 Unspecified -Orphanet:83484 St. Louis encephalitis oboInOwl:hasDbXref ICD10:A83.3 Unspecified -Orphanet:83484 St. Louis encephalitis oboInOwl:hasDbXref MESH:D004674 Unspecified -Orphanet:83484 St. Louis encephalitis oboInOwl:hasDbXref MedDRA:10041896 Unspecified -Orphanet:83484 St. Louis encephalitis oboInOwl:hasDbXref UMLS:C0014060 Unspecified -Orphanet:83484 St. Louis encephalitis skos:broadMatch ICD10:A83.3 Unspecified -Orphanet:83484 St. Louis encephalitis skos:exactMatch UMLS:C0014060 Unspecified -Orphanet:83484 St. Louis encephalitis skos:exactMatch MedDRA:10041896 Unspecified -Orphanet:83484 St. Louis encephalitis skos:exactMatch MESH:D004674 Unspecified -Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref UMLS:C0014053 Unspecified -Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref MESH:D004670 Unspecified -Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref MedDRA:10014584 Unspecified -Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref ICD10:A83.5 Unspecified -Orphanet:83483 La Crosse encephalitis skos:exactMatch UMLS:C0014053 Unspecified -Orphanet:83483 La Crosse encephalitis skos:broadMatch ICD10:A83.5 Unspecified -Orphanet:83483 La Crosse encephalitis skos:exactMatch MedDRA:10014584 Unspecified -Orphanet:83483 La Crosse encephalitis skos:exactMatch MESH:D004670 Unspecified -Orphanet:319640 Retinal macular dystrophy type 2 oboInOwl:hasDbXref UMLS:C0339512 Unspecified -Orphanet:319640 Retinal macular dystrophy type 2 oboInOwl:hasDbXref OMIM:608051 Unspecified -Orphanet:319640 Retinal macular dystrophy type 2 oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:319640 Retinal macular dystrophy type 2 skos:exactMatch OMIM:608051 Unspecified -Orphanet:319640 Retinal macular dystrophy type 2 skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:319640 Retinal macular dystrophy type 2 skos:exactMatch UMLS:C0339512 Unspecified -Orphanet:319646 PGM1-CDG oboInOwl:hasDbXref OMIM:614921 Unspecified -Orphanet:319646 PGM1-CDG oboInOwl:hasDbXref UMLS:C2752015 Unspecified -Orphanet:319646 PGM1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:319646 PGM1-CDG skos:exactMatch OMIM:614921 Unspecified -Orphanet:319646 PGM1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:319646 PGM1-CDG skos:exactMatch UMLS:C2752015 Unspecified -Orphanet:99829 Yellow fever oboInOwl:hasDbXref MedDRA:10048240 Unspecified -Orphanet:99829 Yellow fever oboInOwl:hasDbXref UMLS:C0043395 Unspecified -Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.0 Unspecified -Orphanet:99829 Yellow fever oboInOwl:hasDbXref MESH:D015004 Unspecified -Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.1 Unspecified -Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.9 Unspecified -Orphanet:99829 Yellow fever skos:exactMatch MESH:D015004 Unspecified -Orphanet:99829 Yellow fever skos:narrowMatch ICD10:A95.0 Unspecified -Orphanet:99829 Yellow fever skos:exactMatch UMLS:C0043395 Unspecified -Orphanet:99829 Yellow fever skos:narrowMatch ICD10:A95.1 Unspecified -Orphanet:99829 Yellow fever skos:narrowMatch ICD10:A95.9 Unspecified -Orphanet:99829 Yellow fever skos:exactMatch MedDRA:10048240 Unspecified -Orphanet:99828 Dengue fever oboInOwl:hasDbXref MedDRA:10012310 Unspecified -Orphanet:99828 Dengue fever oboInOwl:hasDbXref UMLS:C0019100 Unspecified -Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.9 Unspecified -Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.1 Unspecified -Orphanet:99828 Dengue fever oboInOwl:hasDbXref UMLS:C0011311 Unspecified -Orphanet:99828 Dengue fever oboInOwl:hasDbXref UMLS:C0376300 Unspecified -Orphanet:99828 Dengue fever oboInOwl:hasDbXref MESH:D003715 Unspecified -Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.2 Unspecified -Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.0 Unspecified -Orphanet:99828 Dengue fever oboInOwl:hasDbXref OMIM:614371 Unspecified -Orphanet:99828 Dengue fever skos:narrowMatch ICD10:A97.1 Unspecified -Orphanet:99828 Dengue fever skos:narrowMatch ICD10:A97.9 Unspecified -Orphanet:99828 Dengue fever skos:broadMatch OMIM:614371 Unspecified -Orphanet:99828 Dengue fever skos:exactMatch UMLS:C0376300 Unspecified -Orphanet:99828 Dengue fever skos:narrowMatch ICD10:A97.0 Unspecified -Orphanet:99828 Dengue fever skos:narrowMatch ICD10:A97.2 Unspecified -Orphanet:99828 Dengue fever skos:exactMatch MESH:D003715 Unspecified -Orphanet:99828 Dengue fever skos:exactMatch UMLS:C0019100 Unspecified -Orphanet:99828 Dengue fever skos:exactMatch MedDRA:10012310 Unspecified -Orphanet:99828 Dengue fever skos:exactMatch UMLS:C0011311 Unspecified -Orphanet:99825 Nipah virus disease oboInOwl:hasDbXref ICD10:A98.8 Unspecified -Orphanet:99825 Nipah virus disease skos:broadMatch ICD10:A98.8 Unspecified -Orphanet:99824 Lassa fever oboInOwl:hasDbXref ICD10:A96.2 Unspecified -Orphanet:99824 Lassa fever oboInOwl:hasDbXref MedDRA:10023927 Unspecified -Orphanet:99824 Lassa fever oboInOwl:hasDbXref MESH:D007835 Unspecified -Orphanet:99824 Lassa fever oboInOwl:hasDbXref UMLS:C0023092 Unspecified -Orphanet:99824 Lassa fever skos:exactMatch MESH:D007835 Unspecified -Orphanet:99824 Lassa fever skos:exactMatch UMLS:C0023092 Unspecified -Orphanet:99824 Lassa fever skos:exactMatch MedDRA:10023927 Unspecified -Orphanet:99824 Lassa fever skos:exactMatch ICD10:A96.2 Unspecified -Orphanet:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.0 Unspecified -Orphanet:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019099 Unspecified -Orphanet:99827 Crimean-Congo hemorrhagic fever skos:exactMatch UMLS:C0019099 Unspecified -Orphanet:99827 Crimean-Congo hemorrhagic fever skos:exactMatch ICD10:A98.0 Unspecified -Orphanet:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref ICD10:D47.9 Unspecified -Orphanet:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref OMIM:605233 Unspecified -Orphanet:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref UMLS:C2931071 Unspecified -Orphanet:275523 Dianzani autoimmune lymphoproliferative disease skos:broadMatch ICD10:D47.9 Unspecified -Orphanet:275523 Dianzani autoimmune lymphoproliferative disease skos:exactMatch OMIM:605233 Unspecified -Orphanet:275523 Dianzani autoimmune lymphoproliferative disease skos:exactMatch UMLS:C2931071 Unspecified -Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref MedDRA:10026822 Unspecified -Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.3 Unspecified -Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref UMLS:C0024788 Unspecified -Orphanet:99826 Marburg hemorrhagic fever skos:exactMatch UMLS:C0024788 Unspecified -Orphanet:99826 Marburg hemorrhagic fever skos:exactMatch ICD10:A98.3 Unspecified -Orphanet:99826 Marburg hemorrhagic fever skos:exactMatch MedDRA:10026822 Unspecified -Orphanet:284448 CLIPPERS oboInOwl:hasDbXref ICD10:G04.8 Unspecified -Orphanet:284448 CLIPPERS oboInOwl:hasDbXref UMLS:C3854437 Unspecified -Orphanet:284448 CLIPPERS skos:broadMatch ICD10:G04.8 Unspecified -Orphanet:284448 CLIPPERS skos:exactMatch UMLS:C3854437 Unspecified -Orphanet:83468 Solitary bone cyst oboInOwl:hasDbXref ICD10:M85.4 Unspecified -Orphanet:83468 Solitary bone cyst oboInOwl:hasDbXref UMLS:C0005937 Unspecified -Orphanet:83468 Solitary bone cyst skos:exactMatch ICD10:M85.4 Unspecified -Orphanet:83468 Solitary bone cyst skos:exactMatch UMLS:C0005937 Unspecified -Orphanet:83467 Morvan syndrome oboInOwl:hasDbXref UMLS:C3854373 Unspecified -Orphanet:83467 Morvan syndrome oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:83467 Morvan syndrome oboInOwl:hasDbXref UMLS:C0751540 Unspecified -Orphanet:83467 Morvan syndrome skos:exactMatch UMLS:C0751540 Unspecified -Orphanet:83467 Morvan syndrome skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:83467 Morvan syndrome skos:exactMatch UMLS:C3854373 Unspecified -Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells oboInOwl:hasDbXref ICD10:C91.7 Unspecified -Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells skos:broadMatch ICD10:C91.7 Unspecified -Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref UMLS:C0281508 Unspecified -Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref MedDRA:10064581 Unspecified -Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref ICD10:C48.2 Unspecified -Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref MESH:D058405 Unspecified -Orphanet:83469 Desmoplastic small round cell tumor skos:broadMatch ICD10:C48.2 Unspecified -Orphanet:83469 Desmoplastic small round cell tumor skos:exactMatch MESH:D058405 Unspecified -Orphanet:83469 Desmoplastic small round cell tumor skos:exactMatch MedDRA:10064581 Unspecified -Orphanet:83469 Desmoplastic small round cell tumor skos:exactMatch UMLS:C0281508 Unspecified -Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref UMLS:C1847827 Unspecified -Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref ICD10:D81.1 Unspecified -Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref OMIM:606593 Unspecified -Orphanet:99812 LIG4 syndrome skos:exactMatch UMLS:C1847827 Unspecified -Orphanet:99812 LIG4 syndrome skos:exactMatch OMIM:606593 Unspecified -Orphanet:99812 LIG4 syndrome skos:broadMatch ICD10:D81.1 Unspecified -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref MESH:D004816 Unspecified -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref UMLS:C0014518 Unspecified -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref ICD10:L51.2 Unspecified -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref OMIM:608579 Unspecified -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref MedDRA:10044223 Unspecified -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum skos:exactMatch MedDRA:10044223 Unspecified -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum skos:exactMatch UMLS:C0014518 Unspecified -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum skos:exactMatch ICD10:L51.2 Unspecified -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum skos:exactMatch MESH:D004816 Unspecified -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum skos:broadMatch OMIM:608579 Unspecified -Orphanet:75840 Congenital muscular dystrophy, Ullrich type oboInOwl:hasDbXref OMIM:254090 Unspecified -Orphanet:75840 Congenital muscular dystrophy, Ullrich type oboInOwl:hasDbXref UMLS:C0410179 Unspecified -Orphanet:75840 Congenital muscular dystrophy, Ullrich type oboInOwl:hasDbXref OMIM:616470 Unspecified -Orphanet:75840 Congenital muscular dystrophy, Ullrich type oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:75840 Congenital muscular dystrophy, Ullrich type skos:exactMatch UMLS:C0410179 Unspecified -Orphanet:75840 Congenital muscular dystrophy, Ullrich type skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:75840 Congenital muscular dystrophy, Ullrich type skos:exactMatch OMIM:254090 Unspecified -Orphanet:75840 Congenital muscular dystrophy, Ullrich type skos:narrowMatch OMIM:616470 Unspecified -Orphanet:94125 Recessive mitochondrial ataxia syndrome oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:94125 Recessive mitochondrial ataxia syndrome skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref UMLS:C0751435 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:264070 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:261640 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref UMLS:C0751436 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref ICD10:E70.1 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:261630 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:233910 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:261630 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:broadMatch ICD10:E70.1 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch UMLS:C0751436 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:233910 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:261640 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch UMLS:C0751435 Unspecified -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:264070 Unspecified -Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref OMIM:607250 Unspecified -Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.2 Unspecified -Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref UMLS:C1846574 Unspecified -Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 skos:exactMatch UMLS:C1846574 Unspecified -Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 skos:exactMatch OMIM:607250 Unspecified -Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 skos:broadMatch ICD10:G60.2 Unspecified -Orphanet:36273 Gastric linitis plastica oboInOwl:hasDbXref ICD10:C16.9 Unspecified -Orphanet:36273 Gastric linitis plastica skos:broadMatch ICD10:C16.9 Unspecified -Orphanet:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref ICD10:G11.0 Unspecified -Orphanet:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref UMLS:C1832585 Unspecified -Orphanet:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref OMIM:601238 Unspecified -Orphanet:94122 Cerebellar ataxia, Cayman type skos:exactMatch OMIM:601238 Unspecified -Orphanet:94122 Cerebellar ataxia, Cayman type skos:broadMatch ICD10:G11.0 Unspecified -Orphanet:94122 Cerebellar ataxia, Cayman type skos:exactMatch UMLS:C1832585 Unspecified -Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref OMIM:614654 Unspecified -Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:exactMatch OMIM:614654 Unspecified -Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref UMLS:C1863959 Unspecified -Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref ICD10:E05.8 Unspecified -Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref MESH:C566384 Unspecified -Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref ICD10:O99.2 Unspecified -Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref OMIM:603373 Unspecified -Orphanet:99819 Familial gestational hyperthyroidism skos:exactMatch UMLS:C1863959 Unspecified -Orphanet:99819 Familial gestational hyperthyroidism skos:exactMatch MESH:C566384 Unspecified -Orphanet:99819 Familial gestational hyperthyroidism skos:exactMatch OMIM:603373 Unspecified -Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 Unspecified -Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref OMIM:270300 Unspecified -Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref OMIM:616265 Unspecified -Orphanet:263543 Generalized peeling skin syndrome skos:exactMatch OMIM:270300 Unspecified -Orphanet:263543 Generalized peeling skin syndrome skos:narrowMatch OMIM:616265 Unspecified -Orphanet:263543 Generalized peeling skin syndrome skos:broadMatch ICD10:Q80.8 Unspecified -Orphanet:83465 Narcolepsy type 2 oboInOwl:hasDbXref ICD10:G47.4 Unspecified -Orphanet:83465 Narcolepsy type 2 skos:broadMatch ICD10:G47.4 Unspecified -Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 Unspecified -Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref OMIM:609796 Unspecified -Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref UMLS:C1853354 Unspecified -Orphanet:263534 Acral peeling skin syndrome skos:broadMatch ICD10:Q80.8 Unspecified -Orphanet:263534 Acral peeling skin syndrome skos:exactMatch OMIM:609796 Unspecified -Orphanet:263534 Acral peeling skin syndrome skos:exactMatch UMLS:C1853354 Unspecified -Orphanet:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref OMIM:144700 Unspecified -Orphanet:422526 Hereditary clear cell renal cell carcinoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:422526 Hereditary clear cell renal cell carcinoma skos:broadMatch OMIM:144700 Unspecified -Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref OMIM:187950 Unspecified -Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref OMIM:601977 Unspecified -Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref OMIM:614521 Unspecified -Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref ICD10:D68.8 Unspecified -Orphanet:71493 Familial thrombocytosis skos:broadMatch OMIM:601977 Unspecified -Orphanet:71493 Familial thrombocytosis skos:broadMatch OMIM:187950 Unspecified -Orphanet:71493 Familial thrombocytosis skos:broadMatch ICD10:D68.8 Unspecified -Orphanet:71493 Familial thrombocytosis skos:broadMatch OMIM:614521 Unspecified -Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome oboInOwl:hasDbXref OMIM:618367 Unspecified -Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome skos:exactMatch OMIM:618367 Unspecified -Orphanet:319667 Primary lymphoma of the conjunctiva oboInOwl:hasDbXref ICD10:C85.7 Unspecified -Orphanet:319667 Primary lymphoma of the conjunctiva skos:broadMatch ICD10:C85.7 Unspecified -Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref OMIM:260565 Unspecified -Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref OMIM:617507 Unspecified -Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref UMLS:C1850056 Unspecified -Orphanet:99807 PEHO-like syndrome skos:exactMatch OMIM:617507 Unspecified -Orphanet:99807 PEHO-like syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:99807 PEHO-like syndrome skos:exactMatch UMLS:C1850056 Unspecified -Orphanet:99807 PEHO-like syndrome skos:broadMatch OMIM:260565 Unspecified -Orphanet:75858 MORM syndrome oboInOwl:hasDbXref OMIM:610156 Unspecified -Orphanet:75858 MORM syndrome oboInOwl:hasDbXref UMLS:C1857802 Unspecified -Orphanet:75858 MORM syndrome oboInOwl:hasDbXref MESH:C536984 Unspecified -Orphanet:75858 MORM syndrome skos:exactMatch OMIM:610156 Unspecified -Orphanet:75858 MORM syndrome skos:exactMatch UMLS:C1857802 Unspecified -Orphanet:75858 MORM syndrome skos:exactMatch MESH:C536984 Unspecified -Orphanet:284454 Acute zonal occult outer retinopathy oboInOwl:hasDbXref UMLS:C0730298 Unspecified -Orphanet:284454 Acute zonal occult outer retinopathy skos:exactMatch UMLS:C0730298 Unspecified -Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref UMLS:C0751583 Unspecified -Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref ICD10:A92.3 Unspecified -Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref OMIM:610379 Unspecified -Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref UMLS:C0043124 Unspecified -Orphanet:83476 West-Nile encephalitis skos:exactMatch UMLS:C0043124 Unspecified -Orphanet:83476 West-Nile encephalitis skos:broadMatch ICD10:A92.3 Unspecified -Orphanet:83476 West-Nile encephalitis skos:narrowMatch OMIM:610379 Unspecified -Orphanet:83476 West-Nile encephalitis skos:exactMatch UMLS:C0751583 Unspecified -Orphanet:83471 Thymic aplasia oboInOwl:hasDbXref ICD10:D81.4 Unspecified -Orphanet:83471 Thymic aplasia oboInOwl:hasDbXref UMLS:C0685894 Unspecified -Orphanet:83471 Thymic aplasia oboInOwl:hasDbXref OMIM:242700 Unspecified -Orphanet:83471 Thymic aplasia oboInOwl:hasDbXref UMLS:C0152094 Unspecified -Orphanet:83471 Thymic aplasia skos:exactMatch ICD10:D81.4 Unspecified -Orphanet:83471 Thymic aplasia skos:exactMatch UMLS:C0685894 Unspecified -Orphanet:83471 Thymic aplasia skos:exactMatch UMLS:C0152094 Unspecified -Orphanet:83471 Thymic aplasia skos:exactMatch OMIM:242700 Unspecified -Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref UMLS:C0334576 Unspecified -Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref ICD10:C71.0 Unspecified -Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref MedDRA:10066254 Unspecified -Orphanet:251582 Gliomatosis cerebri skos:exactMatch MedDRA:10066254 Unspecified -Orphanet:251582 Gliomatosis cerebri skos:broadMatch ICD10:C71.0 Unspecified -Orphanet:251582 Gliomatosis cerebri skos:exactMatch UMLS:C0334576 Unspecified -Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref UMLS:C1837518 Unspecified -Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref MESH:C537202 Unspecified -Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref OMIM:608703 Unspecified -Orphanet:101111 Spinocerebellar ataxia type 25 skos:exactMatch OMIM:608703 Unspecified -Orphanet:101111 Spinocerebellar ataxia type 25 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:101111 Spinocerebellar ataxia type 25 skos:exactMatch UMLS:C1837518 Unspecified -Orphanet:101111 Spinocerebellar ataxia type 25 skos:exactMatch MESH:C537202 Unspecified -Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref OMIM:612539 Unspecified -Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref UMLS:C2675528 Unspecified -Orphanet:171863 Autosomal dominant spastic paraplegia type 42 skos:exactMatch UMLS:C2675528 Unspecified -Orphanet:171863 Autosomal dominant spastic paraplegia type 42 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:171863 Autosomal dominant spastic paraplegia type 42 skos:exactMatch OMIM:612539 Unspecified -Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref MESH:C537199 Unspecified -Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref UMLS:C1837541 Unspecified -Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref OMIM:608687 Unspecified -Orphanet:101110 Spinocerebellar ataxia type 20 skos:exactMatch OMIM:608687 Unspecified -Orphanet:101110 Spinocerebellar ataxia type 20 skos:exactMatch UMLS:C1837541 Unspecified -Orphanet:101110 Spinocerebellar ataxia type 20 skos:exactMatch MESH:C537199 Unspecified -Orphanet:101110 Spinocerebellar ataxia type 20 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref UMLS:C2748544 Unspecified -Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref OMIM:612813 Unspecified -Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch OMIM:612813 Unspecified -Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch UMLS:C2748544 Unspecified -Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref UMLS:C1836395 Unspecified -Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref OMIM:609306 Unspecified -Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref MESH:C537203 Unspecified -Orphanet:101112 Spinocerebellar ataxia type 26 skos:exactMatch MESH:C537203 Unspecified -Orphanet:101112 Spinocerebellar ataxia type 26 skos:exactMatch OMIM:609306 Unspecified -Orphanet:101112 Spinocerebellar ataxia type 26 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:101112 Spinocerebellar ataxia type 26 skos:exactMatch UMLS:C1836395 Unspecified -Orphanet:73247 Eosinophilic esophagitis oboInOwl:hasDbXref OMIM:610247 Unspecified -Orphanet:73247 Eosinophilic esophagitis oboInOwl:hasDbXref ICD10:K20 Unspecified -Orphanet:73247 Eosinophilic esophagitis oboInOwl:hasDbXref MedDRA:10064212 Unspecified -Orphanet:73247 Eosinophilic esophagitis oboInOwl:hasDbXref OMIM:613412 Unspecified -Orphanet:73247 Eosinophilic esophagitis oboInOwl:hasDbXref UMLS:C0341106 Unspecified -Orphanet:73247 Eosinophilic esophagitis oboInOwl:hasDbXref MESH:D057765 Unspecified -Orphanet:73247 Eosinophilic esophagitis skos:exactMatch UMLS:C0341106 Unspecified -Orphanet:73247 Eosinophilic esophagitis skos:broadMatch ICD10:K20 Unspecified -Orphanet:73247 Eosinophilic esophagitis skos:exactMatch MedDRA:10064212 Unspecified -Orphanet:73247 Eosinophilic esophagitis skos:exactMatch MESH:D057765 Unspecified -Orphanet:73247 Eosinophilic esophagitis skos:exactMatch OMIM:610247 Unspecified -Orphanet:73247 Eosinophilic esophagitis skos:narrowMatch OMIM:613412 Unspecified -Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.9 Unspecified -Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.1 Unspecified -Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:189800 Unspecified -Orphanet:275555 Preeclampsia oboInOwl:hasDbXref MedDRA:10036485 Unspecified -Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:609403 Unspecified -Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:614595 Unspecified -Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.2 Unspecified -Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.0 Unspecified -Orphanet:275555 Preeclampsia oboInOwl:hasDbXref UMLS:C0032914 Unspecified -Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:609404 Unspecified -Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:609402 Unspecified -Orphanet:275555 Preeclampsia skos:exactMatch UMLS:C0032914 Unspecified -Orphanet:275555 Preeclampsia skos:narrowMatch OMIM:614595 Unspecified -Orphanet:275555 Preeclampsia skos:narrowMatch OMIM:609403 Unspecified -Orphanet:275555 Preeclampsia skos:narrowMatch ICD10:O14.1 Unspecified -Orphanet:275555 Preeclampsia skos:narrowMatch ICD10:O14.9 Unspecified -Orphanet:275555 Preeclampsia skos:exactMatch MedDRA:10036485 Unspecified -Orphanet:275555 Preeclampsia skos:exactMatch OMIM:189800 Unspecified -Orphanet:275555 Preeclampsia skos:narrowMatch OMIM:609402 Unspecified -Orphanet:275555 Preeclampsia skos:narrowMatch OMIM:609404 Unspecified -Orphanet:275555 Preeclampsia skos:narrowMatch ICD10:O14.0 Unspecified -Orphanet:275555 Preeclampsia skos:narrowMatch ICD10:O14.2 Unspecified -Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref UMLS:C0043324 Unspecified -Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref MESH:D014972 Unspecified -Orphanet:158000 Juvenile xanthogranuloma skos:exactMatch UMLS:C0043324 Unspecified -Orphanet:158000 Juvenile xanthogranuloma skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:158000 Juvenile xanthogranuloma skos:exactMatch MESH:D014972 Unspecified -Orphanet:329894 Juvenile overlap myositis oboInOwl:hasDbXref ICD10:M33.0 Unspecified -Orphanet:329894 Juvenile overlap myositis skos:broadMatch ICD10:M33.0 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:617343 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:145000 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref MESH:C564166 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:618883 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:610071 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:600166 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref UMLS:C4551961 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref ICD10:E21.0 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:145000 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:618883 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:617343 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism skos:exactMatch UMLS:C4551961 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:600166 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism skos:broadMatch ICD10:E21.0 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism skos:exactMatch MESH:C564166 Unspecified -Orphanet:99879 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:610071 Unspecified -Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref UMLS:C0730271 Unspecified -Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref ICD10:H35.3 Unspecified -Orphanet:178493 Myopic macular degeneration skos:exactMatch UMLS:C0730271 Unspecified -Orphanet:178493 Myopic macular degeneration skos:broadMatch ICD10:H35.3 Unspecified -Orphanet:158008 Papular xanthoma oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:158008 Papular xanthoma skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref MedDRA:10022557 Unspecified -Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref UMLS:C0042166 Unspecified -Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref ICD10:H30.2 Unspecified -Orphanet:279914 Intermediate uveitis skos:broadMatch ICD10:H30.2 Unspecified -Orphanet:279914 Intermediate uveitis skos:exactMatch MedDRA:10022557 Unspecified -Orphanet:279914 Intermediate uveitis skos:exactMatch UMLS:C0042166 Unspecified -Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref UMLS:C0334579 Unspecified -Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref MedDRA:10060971 Unspecified -Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref MedDRA:10002224 Unspecified -Orphanet:251589 Anaplastic astrocytoma skos:exactMatch MedDRA:10002224 Unspecified -Orphanet:251589 Anaplastic astrocytoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:251589 Anaplastic astrocytoma skos:exactMatch UMLS:C0334579 Unspecified -Orphanet:251589 Anaplastic astrocytoma skos:exactMatch MedDRA:10060971 Unspecified -Orphanet:87884 Non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 Unspecified -Orphanet:87884 Non-syndromic genetic deafness skos:exactMatch ICD10:H90.5 Unspecified -Orphanet:158003 Xanthoma disseminatum oboInOwl:hasDbXref MedDRA:10052575 Unspecified -Orphanet:158003 Xanthoma disseminatum oboInOwl:hasDbXref UMLS:C0043322 Unspecified -Orphanet:158003 Xanthoma disseminatum oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:158003 Xanthoma disseminatum skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:158003 Xanthoma disseminatum skos:exactMatch MedDRA:10052575 Unspecified -Orphanet:158003 Xanthoma disseminatum skos:exactMatch UMLS:C0043322 Unspecified -Orphanet:279919 Infectious posterior uveitis oboInOwl:hasDbXref ICD10:H32.0 Unspecified -Orphanet:279919 Infectious posterior uveitis skos:broadMatch ICD10:H32.0 Unspecified -Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome oboInOwl:hasDbXref OMIM:617099 Unspecified -Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:exactMatch OMIM:617099 Unspecified -Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref OMIM:300636 Unspecified -Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref OMIM:300645 Unspecified -Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases skos:narrowMatch OMIM:300636 Unspecified -Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases skos:narrowMatch OMIM:300645 Unspecified -Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref MESH:C535415 Unspecified -Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref UMLS:C1843173 Unspecified -Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref OMIM:607731 Unspecified -Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101102 Charcot-Marie-Tooth disease type 2H skos:exactMatch OMIM:607731 Unspecified -Orphanet:101102 Charcot-Marie-Tooth disease type 2H skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:101102 Charcot-Marie-Tooth disease type 2H skos:exactMatch UMLS:C1843173 Unspecified -Orphanet:101102 Charcot-Marie-Tooth disease type 2H skos:exactMatch MESH:C535415 Unspecified -Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.8 Unspecified -Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 Unspecified -Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 Unspecified -Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.9 Unspecified -Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 Unspecified -Orphanet:279922 Infectious anterior uveitis skos:broadMatch ICD10:H20.0 Unspecified -Orphanet:279922 Infectious anterior uveitis skos:broadMatch ICD10:H20.2 Unspecified -Orphanet:279922 Infectious anterior uveitis skos:broadMatch ICD10:H20.8 Unspecified -Orphanet:279922 Infectious anterior uveitis skos:broadMatch ICD10:H20.1 Unspecified -Orphanet:279922 Infectious anterior uveitis skos:broadMatch ICD10:H20.9 Unspecified -Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref OMIM:605589 Unspecified -Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref UMLS:C1854150 Unspecified -Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref MESH:C537991 Unspecified -Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch MESH:C537991 Unspecified -Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch UMLS:C1854150 Unspecified -Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch OMIM:605589 Unspecified -Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref ICD10:C62.9 Unspecified -Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref OMIM:273300 Unspecified -Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref UMLS:C0334517 Unspecified -Orphanet:99865 Spermatocytic seminoma skos:exactMatch UMLS:C0334517 Unspecified -Orphanet:99865 Spermatocytic seminoma skos:broadMatch ICD10:C62.9 Unspecified -Orphanet:99865 Spermatocytic seminoma skos:broadMatch OMIM:273300 Unspecified -Orphanet:99867 Thymoma oboInOwl:hasDbXref UMLS:C0040100 Unspecified -Orphanet:99867 Thymoma oboInOwl:hasDbXref MESH:D013945 Unspecified -Orphanet:99867 Thymoma oboInOwl:hasDbXref ICD10:D15.0 Unspecified -Orphanet:99867 Thymoma oboInOwl:hasDbXref ICD10:D38.4 Unspecified -Orphanet:99867 Thymoma oboInOwl:hasDbXref OMIM:274230 Unspecified -Orphanet:99867 Thymoma oboInOwl:hasDbXref MedDRA:10043670 Unspecified -Orphanet:99867 Thymoma skos:broadMatch ICD10:D15.0 Unspecified -Orphanet:99867 Thymoma skos:exactMatch MedDRA:10043670 Unspecified -Orphanet:99867 Thymoma skos:exactMatch MESH:D013945 Unspecified -Orphanet:99867 Thymoma skos:exactMatch UMLS:C0040100 Unspecified -Orphanet:99867 Thymoma skos:narrowMatch OMIM:274230 Unspecified -Orphanet:99867 Thymoma skos:narrowMatch ICD10:D38.4 Unspecified -Orphanet:73256 Central neurocytoma oboInOwl:hasDbXref UMLS:C0206719 Unspecified -Orphanet:73256 Central neurocytoma skos:exactMatch UMLS:C0206719 Unspecified -Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency oboInOwl:hasDbXref OMIM:614893 Unspecified -Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch OMIM:614893 Unspecified -Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 Unspecified -Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C1961099 Unspecified -Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia skos:exactMatch UMLS:C1961099 Unspecified -Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia skos:broadMatch ICD10:C91.0 Unspecified -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C83.5 Unspecified -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C1292769 Unspecified -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C0006413 Unspecified -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:615545 Unspecified -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 Unspecified -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia skos:narrowMatch OMIM:615545 Unspecified -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia skos:broadMatch ICD10:C91.0 Unspecified -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia skos:broadMatch ICD10:C83.5 Unspecified -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia skos:exactMatch UMLS:C0006413 Unspecified -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia skos:exactMatch UMLS:C1292769 Unspecified -Orphanet:280917 Idiopathic posterior uveitis oboInOwl:hasDbXref ICD10:H30.9 Unspecified -Orphanet:280917 Idiopathic posterior uveitis skos:broadMatch ICD10:H30.9 Unspecified -Orphanet:280914 Idiopathic anterior uveitis oboInOwl:hasDbXref UMLS:C0339315 Unspecified -Orphanet:280914 Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.9 Unspecified -Orphanet:280914 Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 Unspecified -Orphanet:280914 Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.8 Unspecified -Orphanet:280914 Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 Unspecified -Orphanet:280914 Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 Unspecified -Orphanet:280914 Idiopathic anterior uveitis skos:broadMatch ICD10:H20.2 Unspecified -Orphanet:280914 Idiopathic anterior uveitis skos:broadMatch ICD10:H20.0 Unspecified -Orphanet:280914 Idiopathic anterior uveitis skos:broadMatch ICD10:H20.8 Unspecified -Orphanet:280914 Idiopathic anterior uveitis skos:exactMatch UMLS:C0339315 Unspecified -Orphanet:280914 Idiopathic anterior uveitis skos:broadMatch ICD10:H20.1 Unspecified -Orphanet:280914 Idiopathic anterior uveitis skos:broadMatch ICD10:H20.9 Unspecified -Orphanet:99869 Thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 Unspecified -Orphanet:99869 Thymic neuroendocrine carcinoma skos:broadMatch ICD10:C37 Unspecified -Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy oboInOwl:hasDbXref ICD10:K29.6 Unspecified -Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy skos:broadMatch ICD10:K29.6 Unspecified -Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref UMLS:C0205969 Unspecified -Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref MedDRA:10061031 Unspecified -Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref ICD10:C37 Unspecified -Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref UMLS:C1322286 Unspecified -Orphanet:99868 Thymic carcinoma skos:exactMatch UMLS:C0205969 Unspecified -Orphanet:99868 Thymic carcinoma skos:broadMatch ICD10:C37 Unspecified -Orphanet:99868 Thymic carcinoma skos:exactMatch MedDRA:10061031 Unspecified -Orphanet:99868 Thymic carcinoma skos:exactMatch UMLS:C1322286 Unspecified -Orphanet:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref OMIM:113750 Unspecified -Orphanet:370097 Oculocutaneous albinism type 6 skos:broadMatch OMIM:113750 Unspecified -Orphanet:370097 Oculocutaneous albinism type 6 skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:279925 Infectious panuveitis oboInOwl:hasDbXref ICD10:H44.1 Unspecified -Orphanet:279925 Infectious panuveitis skos:broadMatch ICD10:H44.1 Unspecified -Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref UMLS:C1853250 Unspecified -Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref MESH:C537201 Unspecified -Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref OMIM:610245 Unspecified -Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:101108 Spinocerebellar ataxia type 23 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:101108 Spinocerebellar ataxia type 23 skos:exactMatch OMIM:610245 Unspecified -Orphanet:101108 Spinocerebellar ataxia type 23 skos:exactMatch UMLS:C1853250 Unspecified -Orphanet:101108 Spinocerebellar ataxia type 23 skos:exactMatch MESH:C537201 Unspecified -Orphanet:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref OMIM:615312 Unspecified -Orphanet:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:370091 Oculocutaneous albinism type 5 skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:370091 Oculocutaneous albinism type 5 skos:exactMatch OMIM:615312 Unspecified -Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref UMLS:C1853249 Unspecified -Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref MESH:C537205 Unspecified -Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref OMIM:610246 Unspecified -Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:101109 Spinocerebellar ataxia type 28 skos:exactMatch OMIM:610246 Unspecified -Orphanet:101109 Spinocerebellar ataxia type 28 skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:101109 Spinocerebellar ataxia type 28 skos:exactMatch MESH:C537205 Unspecified -Orphanet:101109 Spinocerebellar ataxia type 28 skos:exactMatch UMLS:C1853249 Unspecified -Orphanet:171881 Cap myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:171881 Cap myopathy oboInOwl:hasDbXref OMIM:609285 Unspecified -Orphanet:171881 Cap myopathy oboInOwl:hasDbXref UMLS:C3710589 Unspecified -Orphanet:171881 Cap myopathy oboInOwl:hasDbXref OMIM:609284 Unspecified -Orphanet:171881 Cap myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:171881 Cap myopathy skos:broadMatch OMIM:609285 Unspecified -Orphanet:171881 Cap myopathy skos:exactMatch UMLS:C3710589 Unspecified -Orphanet:171881 Cap myopathy skos:broadMatch OMIM:609284 Unspecified -Orphanet:171886 Cylindrical spirals myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:171886 Cylindrical spirals myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:73224 Tubular renal disease-cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:N25.8 Unspecified -Orphanet:73224 Tubular renal disease-cardiomyopathy syndrome skos:broadMatch ICD10:N25.8 Unspecified -Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:182230 Unspecified -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:262600 Unspecified -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref ICD10:E23.0 Unspecified -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:613038 Unspecified -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:613986 Unspecified -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms skos:narrowMatch OMIM:262600 Unspecified -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms skos:narrowMatch OMIM:182230 Unspecified -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms skos:exactMatch OMIM:613038 Unspecified -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms skos:broadMatch ICD10:E23.0 Unspecified -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms skos:narrowMatch OMIM:613986 Unspecified -Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:L99.0* Unspecified -Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref OMIM:617920 Unspecified -Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:E85.4+ Unspecified -Orphanet:319635 Amyloidosis cutis dyschromia skos:broadMatch ICD10:L99.0* Unspecified -Orphanet:319635 Amyloidosis cutis dyschromia skos:broadMatch ICD10:E85.4+ Unspecified -Orphanet:319635 Amyloidosis cutis dyschromia skos:exactMatch OMIM:617920 Unspecified -Orphanet:99852 Ravine syndrome oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:99852 Ravine syndrome skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref OMIM:618279 Unspecified -Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 skos:exactMatch OMIM:618279 Unspecified -Orphanet:99857 Secondary syringomyelia oboInOwl:hasDbXref ICD10:G95.0 Unspecified -Orphanet:99857 Secondary syringomyelia skos:broadMatch ICD10:G95.0 Unspecified -Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref OMIM:611773 Unspecified -Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref UMLS:C2673195 Unspecified -Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref ICD10:I99 Unspecified -Orphanet:73229 HANAC syndrome skos:exactMatch UMLS:C2673195 Unspecified -Orphanet:73229 HANAC syndrome skos:exactMatch OMIM:611773 Unspecified -Orphanet:73229 HANAC syndrome skos:broadMatch ICD10:I99 Unspecified -Orphanet:275534 Myostatin-related muscle hypertrophy oboInOwl:hasDbXref UMLS:C2931112 Unspecified -Orphanet:275534 Myostatin-related muscle hypertrophy oboInOwl:hasDbXref OMIM:614160 Unspecified -Orphanet:275534 Myostatin-related muscle hypertrophy oboInOwl:hasDbXref ICD10:M62.8 Unspecified -Orphanet:275534 Myostatin-related muscle hypertrophy skos:broadMatch ICD10:M62.8 Unspecified -Orphanet:275534 Myostatin-related muscle hypertrophy skos:exactMatch OMIM:614160 Unspecified -Orphanet:275534 Myostatin-related muscle hypertrophy skos:exactMatch UMLS:C2931112 Unspecified -Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome oboInOwl:hasDbXref OMIM:615438 Unspecified -Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome oboInOwl:hasDbXref ICD10:K72.0 Unspecified -Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome skos:broadMatch ICD10:K72.0 Unspecified -Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome skos:exactMatch OMIM:615438 Unspecified -Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C92.7 Unspecified -Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) skos:broadMatch ICD10:C92.7 Unspecified -Orphanet:499004 Tuberculous meningitis oboInOwl:hasDbXref ICD10:A17.0 Unspecified -Orphanet:499004 Tuberculous meningitis skos:exactMatch ICD10:A17.0 Unspecified -Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref UMLS:C0280785 Unspecified -Orphanet:251595 Diffuse astrocytoma skos:exactMatch UMLS:C0280785 Unspecified -Orphanet:251595 Diffuse astrocytoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref OMIM:268200 Unspecified -Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref ICD10:R82.1 Unspecified -Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref OMIM:550500 Unspecified -Orphanet:99845 Genetic recurrent myoglobinuria skos:broadMatch ICD10:R82.1 Unspecified -Orphanet:99845 Genetic recurrent myoglobinuria skos:narrowMatch OMIM:268200 Unspecified -Orphanet:99845 Genetic recurrent myoglobinuria skos:narrowMatch OMIM:550500 Unspecified -Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome oboInOwl:hasDbXref ICD10:Q79.8 Unspecified -Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome skos:broadMatch ICD10:Q79.8 Unspecified -Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref UMLS:C1834567 Unspecified -Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref ICD10:R82.1 Unspecified -Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref OMIM:160010 Unspecified -Orphanet:99846 Autosomal dominant myoglobinuria skos:exactMatch OMIM:160010 Unspecified -Orphanet:99846 Autosomal dominant myoglobinuria skos:broadMatch ICD10:R82.1 Unspecified -Orphanet:99846 Autosomal dominant myoglobinuria skos:exactMatch UMLS:C1834567 Unspecified -Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref OMIM:612932 Unspecified -Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref UMLS:C2752027 Unspecified -Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch UMLS:C2752027 Unspecified -Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch OMIM:612932 Unspecified -Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 Unspecified -Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref OMIM:256150 Unspecified -Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref OMIM:256550 Unspecified -Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref UMLS:C3888317 Unspecified -Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref UMLS:C0268228 Unspecified -Orphanet:87876 Sialidosis type 2 skos:narrowMatch OMIM:256150 Unspecified -Orphanet:87876 Sialidosis type 2 skos:broadMatch ICD10:E77.1 Unspecified -Orphanet:87876 Sialidosis type 2 skos:exactMatch UMLS:C3888317 Unspecified -Orphanet:87876 Sialidosis type 2 skos:exactMatch UMLS:C0268228 Unspecified -Orphanet:87876 Sialidosis type 2 skos:exactMatch OMIM:256550 Unspecified -Orphanet:279904 Primary intraocular lymphoma oboInOwl:hasDbXref ICD10:C85.7 Unspecified -Orphanet:279904 Primary intraocular lymphoma oboInOwl:hasDbXref UMLS:C0281658 Unspecified -Orphanet:279904 Primary intraocular lymphoma skos:exactMatch UMLS:C0281658 Unspecified -Orphanet:279904 Primary intraocular lymphoma skos:broadMatch ICD10:C85.7 Unspecified -Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref UMLS:C2673535 Unspecified -Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref OMIM:605407 Unspecified -Orphanet:101150 Autosomal recessive dopa-responsive dystonia skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:101150 Autosomal recessive dopa-responsive dystonia skos:exactMatch OMIM:605407 Unspecified -Orphanet:101150 Autosomal recessive dopa-responsive dystonia skos:exactMatch UMLS:C2673535 Unspecified -Orphanet:570762 Infective endocarditis oboInOwl:hasDbXref ICD10:I33.0 Unspecified -Orphanet:570762 Infective endocarditis skos:broadMatch ICD10:I33.0 Unspecified -Orphanet:464359 Benign metanephric tumor oboInOwl:hasDbXref ICD10:D30.0 Unspecified -Orphanet:464359 Benign metanephric tumor skos:broadMatch ICD10:D30.0 Unspecified -Orphanet:477661 IL21-related infantile inflammatory bowel disease oboInOwl:hasDbXref OMIM:615767 Unspecified -Orphanet:477661 IL21-related infantile inflammatory bowel disease skos:exactMatch OMIM:615767 Unspecified -Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:615224 Unspecified -Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:604348 Unspecified -Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref ICD10:G47.2 Unspecified -Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref UMLS:C1858496 Unspecified -Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:616882 Unspecified -Orphanet:164736 Familial advanced sleep-phase syndrome skos:exactMatch UMLS:C1858496 Unspecified -Orphanet:164736 Familial advanced sleep-phase syndrome skos:broadMatch ICD10:G47.2 Unspecified -Orphanet:164736 Familial advanced sleep-phase syndrome skos:exactMatch OMIM:604348 Unspecified -Orphanet:164736 Familial advanced sleep-phase syndrome skos:narrowMatch OMIM:615224 Unspecified -Orphanet:164736 Familial advanced sleep-phase syndrome skos:narrowMatch OMIM:616882 Unspecified -Orphanet:440392 Interstitial lung disease due to SP-C deficiency oboInOwl:hasDbXref ICD10:J84.8 Unspecified -Orphanet:440392 Interstitial lung disease due to SP-C deficiency oboInOwl:hasDbXref OMIM:610913 Unspecified -Orphanet:440392 Interstitial lung disease due to SP-C deficiency skos:broadMatch OMIM:610913 Unspecified -Orphanet:440392 Interstitial lung disease due to SP-C deficiency skos:broadMatch ICD10:J84.8 Unspecified -Orphanet:97240 Zebra body myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:97240 Zebra body myopathy oboInOwl:hasDbXref UMLS:C0270969 Unspecified -Orphanet:97240 Zebra body myopathy skos:exactMatch UMLS:C0270969 Unspecified -Orphanet:97240 Zebra body myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref OMIM:607734 Unspecified -Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 skos:broadMatch OMIM:607734 Unspecified -Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:228379 Virus-associated trichodysplasia spinulosa oboInOwl:hasDbXref UMLS:C3267126 Unspecified -Orphanet:228379 Virus-associated trichodysplasia spinulosa skos:exactMatch UMLS:C3267126 Unspecified -Orphanet:464343 Catastrophic antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 Unspecified -Orphanet:464343 Catastrophic antiphospholipid syndrome skos:broadMatch ICD10:D68.6 Unspecified -Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W oboInOwl:hasDbXref OMIM:616625 Unspecified -Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W skos:exactMatch OMIM:616625 Unspecified -Orphanet:370059 NEVADA syndrome oboInOwl:hasDbXref ICD10:Q84.8 Unspecified -Orphanet:370059 NEVADA syndrome skos:broadMatch ICD10:Q84.8 Unspecified -Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref MESH:C535683 Unspecified -Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref OMIM:602771 Unspecified -Orphanet:97244 Rigid spine syndrome skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:97244 Rigid spine syndrome skos:exactMatch MESH:C535683 Unspecified -Orphanet:97244 Rigid spine syndrome skos:broadMatch OMIM:602771 Unspecified -Orphanet:370052 SCALP syndrome oboInOwl:hasDbXref ICD10:Q84.8 Unspecified -Orphanet:370052 SCALP syndrome skos:broadMatch ICD10:Q84.8 Unspecified -Orphanet:477650 Fibroblastic rheumatism oboInOwl:hasDbXref ICD10:M06.4 Unspecified -Orphanet:477650 Fibroblastic rheumatism skos:broadMatch ICD10:M06.4 Unspecified -Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref MESH:D010229 Unspecified -Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.9 Unspecified -Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.7 Unspecified -Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref MedDRA:10061906 Unspecified -Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.8 Unspecified -Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.0 Unspecified -Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref UMLS:C0030409 Unspecified -Orphanet:73260 Paracoccidioidomycosis skos:exactMatch MedDRA:10061906 Unspecified -Orphanet:73260 Paracoccidioidomycosis skos:exactMatch UMLS:C0030409 Unspecified -Orphanet:73260 Paracoccidioidomycosis skos:narrowMatch ICD10:B41.7 Unspecified -Orphanet:73260 Paracoccidioidomycosis skos:narrowMatch ICD10:B41.9 Unspecified -Orphanet:73260 Paracoccidioidomycosis skos:exactMatch MESH:D010229 Unspecified -Orphanet:73260 Paracoccidioidomycosis skos:narrowMatch ICD10:B41.0 Unspecified -Orphanet:73260 Paracoccidioidomycosis skos:narrowMatch ICD10:B41.8 Unspecified -Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref MESH:C536663 Unspecified -Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref UMLS:C0342870 Unspecified -Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref OMIM:261515 Unspecified -Orphanet:300 Bifunctional enzyme deficiency skos:exactMatch OMIM:261515 Unspecified -Orphanet:300 Bifunctional enzyme deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:300 Bifunctional enzyme deficiency skos:exactMatch UMLS:C0342870 Unspecified -Orphanet:300 Bifunctional enzyme deficiency skos:exactMatch MESH:C536663 Unspecified -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:226400 Unspecified -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:305350 Unspecified -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref MedDRA:10052339 Unspecified -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:B07 Unspecified -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS:C0014522 Unspecified -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618267 Unspecified -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618309 Unspecified -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref MESH:D004819 Unspecified -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618231 Unspecified -Orphanet:302 Epidermodysplasia verruciformis skos:broadMatch ICD10:B07 Unspecified -Orphanet:302 Epidermodysplasia verruciformis skos:narrowMatch OMIM:305350 Unspecified -Orphanet:302 Epidermodysplasia verruciformis skos:exactMatch OMIM:618231 Unspecified -Orphanet:302 Epidermodysplasia verruciformis skos:exactMatch MESH:D004819 Unspecified -Orphanet:302 Epidermodysplasia verruciformis skos:narrowMatch OMIM:618267 Unspecified -Orphanet:302 Epidermodysplasia verruciformis skos:exactMatch MedDRA:10052339 Unspecified -Orphanet:302 Epidermodysplasia verruciformis skos:exactMatch UMLS:C0014522 Unspecified -Orphanet:302 Epidermodysplasia verruciformis skos:narrowMatch OMIM:618309 Unspecified -Orphanet:302 Epidermodysplasia verruciformis skos:exactMatch OMIM:226400 Unspecified -Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref MESH:C537934 Unspecified -Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref OMIM:603358 Unspecified -Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref UMLS:C1864002 Unspecified -Orphanet:53693 GRACILE syndrome skos:exactMatch MESH:C537934 Unspecified -Orphanet:53693 GRACILE syndrome skos:exactMatch OMIM:603358 Unspecified -Orphanet:53693 GRACILE syndrome skos:exactMatch UMLS:C1864002 Unspecified -Orphanet:53693 GRACILE syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:97230 Solar urticaria oboInOwl:hasDbXref UMLS:C0263610 Unspecified -Orphanet:97230 Solar urticaria oboInOwl:hasDbXref ICD10:L56.3 Unspecified -Orphanet:97230 Solar urticaria oboInOwl:hasDbXref MedDRA:10041307 Unspecified -Orphanet:97230 Solar urticaria skos:exactMatch MedDRA:10041307 Unspecified -Orphanet:97230 Solar urticaria skos:exactMatch ICD10:L56.3 Unspecified -Orphanet:97230 Solar urticaria skos:exactMatch UMLS:C0263610 Unspecified -Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref MESH:C535808 Unspecified -Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref UMLS:C0796074 Unspecified -Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref OMIM:304700 Unspecified -Orphanet:52368 Mohr-Tranebjaerg syndrome skos:exactMatch OMIM:304700 Unspecified -Orphanet:52368 Mohr-Tranebjaerg syndrome skos:exactMatch UMLS:C0796074 Unspecified -Orphanet:52368 Mohr-Tranebjaerg syndrome skos:exactMatch MESH:C535808 Unspecified -Orphanet:52368 Mohr-Tranebjaerg syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia oboInOwl:hasDbXref UMLS:C2750066 Unspecified -Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia oboInOwl:hasDbXref OMIM:613330 Unspecified -Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch OMIM:613330 Unspecified -Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch UMLS:C2750066 Unspecified -Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref UMLS:C0220669 Unspecified -Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:607745 Unspecified -Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:605751 Unspecified -Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:612627 Unspecified -Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:617080 Unspecified -Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:601764 Unspecified -Orphanet:306 Benign familial infantile epilepsy skos:narrowMatch OMIM:605751 Unspecified -Orphanet:306 Benign familial infantile epilepsy skos:narrowMatch OMIM:612627 Unspecified -Orphanet:306 Benign familial infantile epilepsy skos:exactMatch UMLS:C0220669 Unspecified -Orphanet:306 Benign familial infantile epilepsy skos:narrowMatch OMIM:617080 Unspecified -Orphanet:306 Benign familial infantile epilepsy skos:exactMatch OMIM:601764 Unspecified -Orphanet:306 Benign familial infantile epilepsy skos:narrowMatch OMIM:607745 Unspecified -Orphanet:306 Benign familial infantile epilepsy skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.2 Unspecified -Orphanet:252015 Choriocarcinoma of the central nervous system skos:broadMatch ICD10:C71.2 Unspecified -Orphanet:464370 Neonatal alloimmune neutropenia oboInOwl:hasDbXref ICD10:P61.5 Unspecified -Orphanet:464370 Neonatal alloimmune neutropenia skos:broadMatch ICD10:P61.5 Unspecified -Orphanet:53698 Hyaline body myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:53698 Hyaline body myopathy oboInOwl:hasDbXref OMIM:608358 Unspecified -Orphanet:53698 Hyaline body myopathy oboInOwl:hasDbXref OMIM:255160 Unspecified -Orphanet:53698 Hyaline body myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:53698 Hyaline body myopathy skos:narrowMatch OMIM:608358 Unspecified -Orphanet:53698 Hyaline body myopathy skos:narrowMatch OMIM:255160 Unspecified -Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref UMLS:C2930924 Unspecified -Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref OMIM:209950 Unspecified -Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref MESH:C535530 Unspecified -Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:exactMatch UMLS:C2930924 Unspecified -Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:exactMatch MESH:C535530 Unspecified -Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:broadMatch OMIM:209950 Unspecified -Orphanet:370046 Didymosis aplasticosebacea oboInOwl:hasDbXref ICD10:Q84.8 Unspecified -Orphanet:370046 Didymosis aplasticosebacea skos:broadMatch ICD10:Q84.8 Unspecified -Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref ICD10:Q78.5 Unspecified -Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref UMLS:C0432225 Unspecified -Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref MESH:C537353 Unspecified -Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref OMIM:250400 Unspecified -Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type skos:exactMatch OMIM:250400 Unspecified -Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type skos:broadMatch ICD10:Q78.5 Unspecified -Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type skos:exactMatch UMLS:C0432225 Unspecified -Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type skos:exactMatch MESH:C537353 Unspecified -Orphanet:280921 Idiopathic panuveitis oboInOwl:hasDbXref ICD10:H44.1 Unspecified -Orphanet:280921 Idiopathic panuveitis skos:broadMatch ICD10:H44.1 Unspecified -Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref MESH:C535685 Unspecified -Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref UMLS:C1853698 Unspecified -Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref OMIM:600332 Unspecified -Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref MedDRA:10069417 Unspecified -Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref OMIM:606072 Unspecified -Orphanet:97238 Rippling muscle disease skos:exactMatch OMIM:606072 Unspecified -Orphanet:97238 Rippling muscle disease skos:exactMatch MedDRA:10069417 Unspecified -Orphanet:97238 Rippling muscle disease skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:97238 Rippling muscle disease skos:narrowMatch OMIM:600332 Unspecified -Orphanet:97238 Rippling muscle disease skos:exactMatch MESH:C535685 Unspecified -Orphanet:97238 Rippling muscle disease skos:exactMatch UMLS:C1853698 Unspecified -Orphanet:73267 Non-24-hour sleep-wake syndrome oboInOwl:hasDbXref UMLS:C0751759 Unspecified -Orphanet:73267 Non-24-hour sleep-wake syndrome oboInOwl:hasDbXref ICD10:G47.2 Unspecified -Orphanet:73267 Non-24-hour sleep-wake syndrome skos:broadMatch ICD10:G47.2 Unspecified -Orphanet:73267 Non-24-hour sleep-wake syndrome skos:exactMatch UMLS:C0751759 Unspecified -Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref UMLS:C1844560 Unspecified -Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref OMIM:305550 Unspecified -Orphanet:97232 Fingerprint body myopathy skos:exactMatch OMIM:305550 Unspecified -Orphanet:97232 Fingerprint body myopathy skos:exactMatch UMLS:C1844560 Unspecified -Orphanet:97232 Fingerprint body myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref ICD10:E73.0 Unspecified -Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref UMLS:C0268179 Unspecified -Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref OMIM:223000 Unspecified -Orphanet:53690 Congenital lactase deficiency skos:exactMatch UMLS:C0268179 Unspecified -Orphanet:53690 Congenital lactase deficiency skos:exactMatch OMIM:223000 Unspecified -Orphanet:53690 Congenital lactase deficiency skos:exactMatch ICD10:E73.0 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref MESH:D009091 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.5 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.3 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.1 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.9 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref UMLS:C0026718 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref MESH:D020096 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref MedDRA:10061418 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref MedDRA:10028098 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.4 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.2 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.0 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.8 Unspecified -Orphanet:73263 Zygomycosis oboInOwl:hasDbXref UMLS:C0043541 Unspecified -Orphanet:73263 Zygomycosis skos:exactMatch UMLS:C0043541 Unspecified -Orphanet:73263 Zygomycosis skos:narrowMatch ICD10:B46.0 Unspecified -Orphanet:73263 Zygomycosis skos:narrowMatch ICD10:B46.2 Unspecified -Orphanet:73263 Zygomycosis skos:narrowMatch ICD10:B46.4 Unspecified -Orphanet:73263 Zygomycosis skos:narrowMatch ICD10:B46.8 Unspecified -Orphanet:73263 Zygomycosis skos:exactMatch MedDRA:10028098 Unspecified -Orphanet:73263 Zygomycosis skos:exactMatch MedDRA:10061418 Unspecified -Orphanet:73263 Zygomycosis skos:narrowMatch ICD10:B46.9 Unspecified -Orphanet:73263 Zygomycosis skos:narrowMatch ICD10:B46.1 Unspecified -Orphanet:73263 Zygomycosis skos:narrowMatch ICD10:B46.3 Unspecified -Orphanet:73263 Zygomycosis skos:narrowMatch ICD10:B46.5 Unspecified -Orphanet:73263 Zygomycosis skos:exactMatch UMLS:C0026718 Unspecified -Orphanet:73263 Zygomycosis skos:exactMatch MESH:D009091 Unspecified -Orphanet:73263 Zygomycosis skos:exactMatch MESH:D020096 Unspecified -Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref OMIM:261670 Unspecified -Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref UMLS:C0268149 Unspecified -Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch UMLS:C0268149 Unspecified -Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch OMIM:261670 Unspecified -Orphanet:158022 Progressive nodular histiocytosis oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:158022 Progressive nodular histiocytosis skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:329874 Idiopathic giant cell myocarditis oboInOwl:hasDbXref ICD10:I40.1 Unspecified -Orphanet:329874 Idiopathic giant cell myocarditis skos:broadMatch ICD10:I40.1 Unspecified -Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome oboInOwl:hasDbXref OMIM:619075 Unspecified -Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome oboInOwl:hasDbXref ICD10:E72.4 Unspecified -Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome skos:broadMatch ICD10:E72.4 Unspecified -Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome skos:exactMatch OMIM:619075 Unspecified -Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref OMIM:300717 Unspecified -Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref UMLS:C0270970 Unspecified -Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref OMIM:300718 Unspecified -Orphanet:97239 Reducing body myopathy skos:exactMatch UMLS:C0270970 Unspecified -Orphanet:97239 Reducing body myopathy skos:narrowMatch OMIM:300717 Unspecified -Orphanet:97239 Reducing body myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:97239 Reducing body myopathy skos:narrowMatch OMIM:300718 Unspecified -Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref MESH:C537575 Unspecified -Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref UMLS:C0473586 Unspecified -Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref OMIM:616734 Unspecified -Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref OMIM:156610 Unspecified -Orphanet:2505 Multiple benign circumferential skin creases on limbs skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:2505 Multiple benign circumferential skin creases on limbs skos:exactMatch UMLS:C0473586 Unspecified -Orphanet:2505 Multiple benign circumferential skin creases on limbs skos:exactMatch OMIM:156610 Unspecified -Orphanet:2505 Multiple benign circumferential skin creases on limbs skos:exactMatch MESH:C537575 Unspecified -Orphanet:2505 Multiple benign circumferential skin creases on limbs skos:narrowMatch OMIM:616734 Unspecified -Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref OMIM:251880 Unspecified -Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency skos:exactMatch OMIM:251880 Unspecified -Orphanet:477684 Combined oxidative phosphorylation defect type 26 oboInOwl:hasDbXref OMIM:616539 Unspecified -Orphanet:477684 Combined oxidative phosphorylation defect type 26 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:477684 Combined oxidative phosphorylation defect type 26 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:477684 Combined oxidative phosphorylation defect type 26 skos:exactMatch OMIM:616539 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:613060 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref MedDRA:10071082 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:611136 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref UMLS:C0270853 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:614280 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:604827 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:254770 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref MESH:D020190 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:617924 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:608816 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:611364 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:607628 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:607682 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:exactMatch UMLS:C0270853 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:broadMatch OMIM:611136 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:exactMatch OMIM:254770 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:broadMatch OMIM:613060 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:exactMatch MESH:D020190 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:608816 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:611364 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:617924 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:broadMatch OMIM:607628 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:broadMatch OMIM:607682 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:614280 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:exactMatch MedDRA:10071082 Unspecified -Orphanet:307 Juvenile myoclonic epilepsy skos:broadMatch OMIM:604827 Unspecified -Orphanet:544482 Infection-related hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 Unspecified -Orphanet:544482 Infection-related hemolytic uremic syndrome skos:broadMatch ICD10:D58.8 Unspecified -Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref OMIM:269600 Unspecified -Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref UMLS:C0036489 Unspecified -Orphanet:158029 Sea-blue histiocytosis skos:exactMatch UMLS:C0036489 Unspecified -Orphanet:158029 Sea-blue histiocytosis skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:158029 Sea-blue histiocytosis skos:exactMatch OMIM:269600 Unspecified -Orphanet:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref OMIM:142630 Unspecified -Orphanet:158025 Hereditary progressive mucinous histiocytosis skos:exactMatch OMIM:142630 Unspecified -Orphanet:158025 Hereditary progressive mucinous histiocytosis skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref OMIM:614201 Unspecified -Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref ICD10:D69.8 Unspecified -Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref OMIM:614200 Unspecified -Orphanet:73271 Bleeding diathesis due to a collagen receptor defect skos:broadMatch ICD10:D69.8 Unspecified -Orphanet:73271 Bleeding diathesis due to a collagen receptor defect skos:narrowMatch OMIM:614201 Unspecified -Orphanet:73271 Bleeding diathesis due to a collagen receptor defect skos:narrowMatch OMIM:614200 Unspecified -Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref OMIM:608747 Unspecified -Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref ICD10:E34.3 Unspecified -Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref UMLS:C1837475 Unspecified -Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency skos:broadMatch ICD10:E34.3 Unspecified -Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch UMLS:C1837475 Unspecified -Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch OMIM:608747 Unspecified -Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1866256 Unspecified -Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:601794 Unspecified -Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome skos:exactMatch UMLS:C1866256 Unspecified -Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome skos:exactMatch OMIM:601794 Unspecified -Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref OMIM:612940 Unspecified -Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref UMLS:C2751987 Unspecified -Orphanet:357064 Autosomal recessive cutis laxa type 2B skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:357064 Autosomal recessive cutis laxa type 2B skos:exactMatch UMLS:C2751987 Unspecified -Orphanet:357064 Autosomal recessive cutis laxa type 2B skos:exactMatch OMIM:612940 Unspecified -Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref UMLS:C1704981 Unspecified -Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref OMIM:145001 Unspecified -Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref ICD10:E21.0 Unspecified -Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome skos:broadMatch OMIM:145001 Unspecified -Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome skos:broadMatch ICD10:E21.0 Unspecified -Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome skos:exactMatch UMLS:C1704981 Unspecified -Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref OMIM:214700 Unspecified -Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref MESH:C536210 Unspecified -Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref UMLS:C0267662 Unspecified -Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref ICD10:P78.3 Unspecified -Orphanet:53689 Congenital chloride diarrhea skos:exactMatch MESH:C536210 Unspecified -Orphanet:53689 Congenital chloride diarrhea skos:exactMatch UMLS:C0267662 Unspecified -Orphanet:53689 Congenital chloride diarrhea skos:broadMatch ICD10:P78.3 Unspecified -Orphanet:53689 Congenital chloride diarrhea skos:exactMatch OMIM:214700 Unspecified -Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref UMLS:C0543669 Unspecified -Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref OMIM:162830 Unspecified -Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref ICD10:D72.8 Unspecified -Orphanet:279943 Hereditary neutrophilia skos:broadMatch ICD10:D72.8 Unspecified -Orphanet:279943 Hereditary neutrophilia skos:exactMatch OMIM:162830 Unspecified -Orphanet:279943 Hereditary neutrophilia skos:exactMatch UMLS:C0543669 Unspecified -Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:610374 Unspecified -Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C1832386 Unspecified -Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:601410 Unspecified -Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:610582 Unspecified -Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 Unspecified -Orphanet:99886 Transient neonatal diabetes mellitus skos:narrowMatch OMIM:610374 Unspecified -Orphanet:99886 Transient neonatal diabetes mellitus skos:exactMatch OMIM:601410 Unspecified -Orphanet:99886 Transient neonatal diabetes mellitus skos:exactMatch UMLS:C1832386 Unspecified -Orphanet:99886 Transient neonatal diabetes mellitus skos:broadMatch ICD10:P70.2 Unspecified -Orphanet:99886 Transient neonatal diabetes mellitus skos:narrowMatch OMIM:610582 Unspecified -Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref ICD10:E24.3 Unspecified -Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion skos:broadMatch ICD10:E24.3 Unspecified -Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref OMIM:602079 Unspecified -Orphanet:468726 Severe primary trimethylaminuria skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:468726 Severe primary trimethylaminuria skos:broadMatch OMIM:602079 Unspecified -Orphanet:370039 Angora hair nevus oboInOwl:hasDbXref ICD10:Q82.5 Unspecified -Orphanet:370039 Angora hair nevus skos:broadMatch ICD10:Q82.5 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C1833104 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618856 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618858 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:606176 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618857 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus skos:narrowMatch OMIM:618857 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus skos:broadMatch ICD10:P70.2 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus skos:narrowMatch OMIM:618856 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus skos:narrowMatch OMIM:618858 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus skos:exactMatch UMLS:C1833104 Unspecified -Orphanet:99885 Isolated permanent neonatal diabetes mellitus skos:exactMatch OMIM:606176 Unspecified -Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref OMIM:270450 Unspecified -Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref ICD10:E34.3 Unspecified -Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref UMLS:C1849157 Unspecified -Orphanet:73273 Growth delay due to insulin-like growth factor I resistance skos:exactMatch OMIM:270450 Unspecified -Orphanet:73273 Growth delay due to insulin-like growth factor I resistance skos:broadMatch ICD10:E34.3 Unspecified -Orphanet:73273 Growth delay due to insulin-like growth factor I resistance skos:exactMatch UMLS:C1849157 Unspecified -Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref MESH:D058252 Unspecified -Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref UMLS:C1275339 Unspecified -Orphanet:158011 Necrobiotic xanthogranuloma skos:exactMatch MESH:D058252 Unspecified -Orphanet:158011 Necrobiotic xanthogranuloma skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:158011 Necrobiotic xanthogranuloma skos:exactMatch UMLS:C1275339 Unspecified -Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref OMIM:616801 Unspecified -Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref OMIM:615419 Unspecified -Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome skos:narrowMatch OMIM:616801 Unspecified -Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome skos:narrowMatch OMIM:615419 Unspecified -Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616281 Unspecified -Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome skos:exactMatch OMIM:616281 Unspecified -Orphanet:158019 Indeterminate cell histiocytosis oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:158019 Indeterminate cell histiocytosis skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref OMIM:602782 Unspecified -Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref MedDRA:10063397 Unspecified -Orphanet:158014 Rosaï-Dorfman disease skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:158014 Rosaï-Dorfman disease skos:exactMatch MedDRA:10063397 Unspecified -Orphanet:363746 Balint syndrome oboInOwl:hasDbXref ICD10:H51.8 Unspecified -Orphanet:363746 Balint syndrome oboInOwl:hasDbXref UMLS:C0270706 Unspecified -Orphanet:363746 Balint syndrome skos:broadMatch ICD10:H51.8 Unspecified -Orphanet:363746 Balint syndrome skos:exactMatch UMLS:C0270706 Unspecified -Orphanet:252031 Diffuse leptomeningeal melanocytosis oboInOwl:hasDbXref ICD10:C70.9 Unspecified -Orphanet:252031 Diffuse leptomeningeal melanocytosis skos:broadMatch ICD10:C70.9 Unspecified -Orphanet:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref UMLS:C1266159 Unspecified -Orphanet:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref ICD10:D39.2 Unspecified -Orphanet:254698 Epithelioid trophoblastic tumor skos:exactMatch UMLS:C1266159 Unspecified -Orphanet:254698 Epithelioid trophoblastic tumor skos:broadMatch ICD10:D39.2 Unspecified -Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref UMLS:C1854104 Unspecified -Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref OMIM:605642 Unspecified -Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C73 Unspecified -Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia skos:broadMatch ICD10:C73 Unspecified -Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia skos:broadMatch ICD10:C64 Unspecified -Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch UMLS:C1854104 Unspecified -Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch OMIM:605642 Unspecified -Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref OMIM:278250 Unspecified -Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref OMIM:219200 Unspecified -Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref UMLS:C0268355 Unspecified -Orphanet:357058 Autosomal recessive cutis laxa type 2A skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:357058 Autosomal recessive cutis laxa type 2A skos:exactMatch UMLS:C0268355 Unspecified -Orphanet:357058 Autosomal recessive cutis laxa type 2A skos:narrowMatch OMIM:278250 Unspecified -Orphanet:357058 Autosomal recessive cutis laxa type 2A skos:narrowMatch OMIM:219200 Unspecified -Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:464318 Verrucous hemangioma oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:464318 Verrucous hemangioma skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome oboInOwl:hasDbXref OMIM:615960 Unspecified -Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome skos:exactMatch OMIM:615960 Unspecified -Orphanet:97282 VIPoma oboInOwl:hasDbXref UMLS:C0086768 Unspecified -Orphanet:97282 VIPoma oboInOwl:hasDbXref ICD10:E16.8 Unspecified -Orphanet:97282 VIPoma oboInOwl:hasDbXref UMLS:C0011993 Unspecified -Orphanet:97282 VIPoma oboInOwl:hasDbXref MedDRA:10047430 Unspecified -Orphanet:97282 VIPoma oboInOwl:hasDbXref MESH:D003969 Unspecified -Orphanet:97282 VIPoma skos:exactMatch MESH:D003969 Unspecified -Orphanet:97282 VIPoma skos:exactMatch MedDRA:10047430 Unspecified -Orphanet:97282 VIPoma skos:exactMatch UMLS:C0011993 Unspecified -Orphanet:97282 VIPoma skos:broadMatch ICD10:E16.8 Unspecified -Orphanet:97282 VIPoma skos:exactMatch UMLS:C0086768 Unspecified -Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref MESH:D013005 Unspecified -Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref ICD10:E16.8 Unspecified -Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref UMLS:C0037661 Unspecified -Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref MedDRA:10041329 Unspecified -Orphanet:97283 Somatostatinoma skos:exactMatch MedDRA:10041329 Unspecified -Orphanet:97283 Somatostatinoma skos:exactMatch UMLS:C0037661 Unspecified -Orphanet:97283 Somatostatinoma skos:exactMatch MESH:D013005 Unspecified -Orphanet:97283 Somatostatinoma skos:broadMatch ICD10:E16.8 Unspecified -Orphanet:314795 SHOX-related short stature oboInOwl:hasDbXref OMIM:300582 Unspecified -Orphanet:314795 SHOX-related short stature oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:314795 SHOX-related short stature skos:exactMatch OMIM:300582 Unspecified -Orphanet:314795 SHOX-related short stature skos:broadMatch ICD10:Q87.1 Unspecified -Orphanet:97285 Thyroid lymphoma oboInOwl:hasDbXref ICD10:C85.7 Unspecified -Orphanet:97285 Thyroid lymphoma skos:broadMatch ICD10:C85.7 Unspecified -Orphanet:561854 FOXG1 syndrome oboInOwl:hasDbXref ICD10:F84.8 Unspecified -Orphanet:561854 FOXG1 syndrome skos:broadMatch ICD10:F84.8 Unspecified -Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref UMLS:C1865409 Unspecified -Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref OMIM:602433 Unspecified -Orphanet:357043 Amyotrophic lateral sclerosis type 4 skos:exactMatch OMIM:602433 Unspecified -Orphanet:357043 Amyotrophic lateral sclerosis type 4 skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:357043 Amyotrophic lateral sclerosis type 4 skos:exactMatch UMLS:C1865409 Unspecified -Orphanet:97280 Glucagonoma oboInOwl:hasDbXref MESH:D005935 Unspecified -Orphanet:97280 Glucagonoma oboInOwl:hasDbXref ICD10:E16.8 Unspecified -Orphanet:97280 Glucagonoma oboInOwl:hasDbXref UMLS:C0017689 Unspecified -Orphanet:97280 Glucagonoma oboInOwl:hasDbXref MedDRA:10018404 Unspecified -Orphanet:97280 Glucagonoma skos:broadMatch ICD10:E16.8 Unspecified -Orphanet:97280 Glucagonoma skos:exactMatch MESH:D005935 Unspecified -Orphanet:97280 Glucagonoma skos:exactMatch MedDRA:10018404 Unspecified -Orphanet:97280 Glucagonoma skos:exactMatch UMLS:C0017689 Unspecified -Orphanet:466962 SMARCA4-deficient sarcoma of thorax oboInOwl:hasDbXref ICD10:C49.3 Unspecified -Orphanet:466962 SMARCA4-deficient sarcoma of thorax skos:broadMatch ICD10:C49.3 Unspecified -Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor type oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor type skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref OMIM:604484 Unspecified -Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref ICD10:D44.8 Unspecified -Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref UMLS:C1847319 Unspecified -Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref OMIM:606864 Unspecified -Orphanet:97286 Carney-Stratakis syndrome skos:exactMatch OMIM:606864 Unspecified -Orphanet:97286 Carney-Stratakis syndrome skos:broadMatch ICD10:D44.8 Unspecified -Orphanet:97286 Carney-Stratakis syndrome skos:exactMatch UMLS:C1847319 Unspecified -Orphanet:97287 Bronchial neuroendocrine tumor oboInOwl:hasDbXref ICD10:D38.1 Unspecified -Orphanet:97287 Bronchial neuroendocrine tumor skos:broadMatch ICD10:D38.1 Unspecified -Orphanet:370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:97289 Thymic neuroendocrine tumor oboInOwl:hasDbXref ICD10:C37 Unspecified -Orphanet:97289 Thymic neuroendocrine tumor skos:broadMatch ICD10:C37 Unspecified -Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref OMIM:602440 Unspecified -Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref MESH:C538253 Unspecified -Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref MedDRA:10069681 Unspecified -Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref UMLS:C1865384 Unspecified -Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref ICD10:G12.8 Unspecified -Orphanet:65684 Monomelic amyotrophy skos:exactMatch UMLS:C1865384 Unspecified -Orphanet:65684 Monomelic amyotrophy skos:exactMatch MedDRA:10069681 Unspecified -Orphanet:65684 Monomelic amyotrophy skos:exactMatch OMIM:602440 Unspecified -Orphanet:65684 Monomelic amyotrophy skos:exactMatch MESH:C538253 Unspecified -Orphanet:65684 Monomelic amyotrophy skos:broadMatch ICD10:G12.8 Unspecified -Orphanet:65683 Isolated focal cortical dysplasia oboInOwl:hasDbXref UMLS:C1846385 Unspecified -Orphanet:65683 Isolated focal cortical dysplasia oboInOwl:hasDbXref OMIM:607341 Unspecified -Orphanet:65683 Isolated focal cortical dysplasia oboInOwl:hasDbXref ICD10:Q04.8 Unspecified -Orphanet:65683 Isolated focal cortical dysplasia oboInOwl:hasDbXref UMLS:C2938983 Unspecified -Orphanet:65683 Isolated focal cortical dysplasia skos:exactMatch UMLS:C2938983 Unspecified -Orphanet:65683 Isolated focal cortical dysplasia skos:broadMatch ICD10:Q04.8 Unspecified -Orphanet:65683 Isolated focal cortical dysplasia skos:narrowMatch OMIM:607341 Unspecified -Orphanet:65683 Isolated focal cortical dysplasia skos:exactMatch UMLS:C1846385 Unspecified -Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref ICD10:G04.1 Unspecified -Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref MedDRA:10044696 Unspecified -Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref OMIM:159580 Unspecified -Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref UMLS:C0030481 Unspecified -Orphanet:289326 Tropical spastic paraparesis skos:exactMatch OMIM:159580 Unspecified -Orphanet:289326 Tropical spastic paraparesis skos:exactMatch UMLS:C0030481 Unspecified -Orphanet:289326 Tropical spastic paraparesis skos:exactMatch ICD10:G04.1 Unspecified -Orphanet:289326 Tropical spastic paraparesis skos:exactMatch MedDRA:10044696 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref MESH:C537986 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref UMLS:C3495591 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref OMIM:118300 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref MESH:C538078 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref UMLS:C2931686 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref UMLS:C1861669 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E skos:exactMatch UMLS:C1861669 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E skos:exactMatch UMLS:C2931686 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E skos:exactMatch OMIM:118300 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E skos:exactMatch MESH:C538078 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E skos:exactMatch UMLS:C3495591 Unspecified -Orphanet:90658 Charcot-Marie-Tooth disease type 1E skos:exactMatch MESH:C537986 Unspecified -Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref OMIM:300835 Unspecified -Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref ICD10:D64.4 Unspecified -Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia skos:broadMatch ICD10:D64.4 Unspecified -Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia skos:exactMatch OMIM:300835 Unspecified -Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref UMLS:C0149841 Unspecified -Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref OMIM:605479 Unspecified -Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K83.1 Unspecified -Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref OMIM:243300 Unspecified -Orphanet:65682 Benign recurrent intrahepatic cholestasis skos:narrowMatch OMIM:605479 Unspecified -Orphanet:65682 Benign recurrent intrahepatic cholestasis skos:broadMatch ICD10:K83.1 Unspecified -Orphanet:65682 Benign recurrent intrahepatic cholestasis skos:exactMatch UMLS:C0149841 Unspecified -Orphanet:65682 Benign recurrent intrahepatic cholestasis skos:narrowMatch OMIM:243300 Unspecified -Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref UMLS:C0206734 Unspecified -Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref ICD10:D33.7 Unspecified -Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref MedDRA:10018813 Unspecified -Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref ICD10:D33.4 Unspecified -Orphanet:252054 Hemangioblastoma skos:narrowMatch ICD10:D33.4 Unspecified -Orphanet:252054 Hemangioblastoma skos:exactMatch MedDRA:10018813 Unspecified -Orphanet:252054 Hemangioblastoma skos:narrowMatch ICD10:D33.7 Unspecified -Orphanet:252054 Hemangioblastoma skos:exactMatch UMLS:C0206734 Unspecified -Orphanet:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 Unspecified -Orphanet:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref MedDRA:10013706 Unspecified -Orphanet:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref UMLS:C0263591 Unspecified -Orphanet:231111 Drug-induced lupus erythematosus skos:exactMatch UMLS:C0263591 Unspecified -Orphanet:231111 Drug-induced lupus erythematosus skos:exactMatch MedDRA:10013706 Unspecified -Orphanet:231111 Drug-induced lupus erythematosus skos:exactMatch ICD10:M32.0 Unspecified -Orphanet:97279 Insulinoma oboInOwl:hasDbXref UMLS:C0021670 Unspecified -Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:D13.7 Unspecified -Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:D37.7 Unspecified -Orphanet:97279 Insulinoma oboInOwl:hasDbXref MedDRA:10022498 Unspecified -Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:C25.4 Unspecified -Orphanet:97279 Insulinoma oboInOwl:hasDbXref MESH:D007340 Unspecified -Orphanet:97279 Insulinoma skos:narrowMatch ICD10:C25.4 Unspecified -Orphanet:97279 Insulinoma skos:exactMatch UMLS:C0021670 Unspecified -Orphanet:97279 Insulinoma skos:exactMatch MedDRA:10022498 Unspecified -Orphanet:97279 Insulinoma skos:narrowMatch ICD10:D37.7 Unspecified -Orphanet:97279 Insulinoma skos:narrowMatch ICD10:D13.7 Unspecified -Orphanet:97279 Insulinoma skos:exactMatch MESH:D007340 Unspecified -Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref OMIM:165800 Unspecified -Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref ICD10:M89.8 Unspecified -Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome skos:broadMatch ICD10:M89.8 Unspecified -Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome skos:exactMatch OMIM:165800 Unspecified -Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref OMIM:148700 Unspecified -Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses skos:broadMatch OMIM:148700 Unspecified -Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:397922 Ferro-cerebro-cutaneous syndrome oboInOwl:hasDbXref ICD10:G23.0 Unspecified -Orphanet:397922 Ferro-cerebro-cutaneous syndrome skos:broadMatch ICD10:G23.0 Unspecified -Orphanet:440368 Necrotizing soft tissue infection oboInOwl:hasDbXref ICD10:M72.6 Unspecified -Orphanet:440368 Necrotizing soft tissue infection skos:broadMatch ICD10:M72.6 Unspecified -Orphanet:464336 BENTA disease oboInOwl:hasDbXref OMIM:616452 Unspecified -Orphanet:464336 BENTA disease oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:464336 BENTA disease skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:464336 BENTA disease skos:exactMatch OMIM:616452 Unspecified -Orphanet:252050 Primary melanoma of the central nervous system oboInOwl:hasDbXref ICD10:C70.9 Unspecified -Orphanet:252050 Primary melanoma of the central nervous system skos:broadMatch ICD10:C70.9 Unspecified -Orphanet:97278 PPoma oboInOwl:hasDbXref ICD10:E16.8 Unspecified -Orphanet:97278 PPoma skos:broadMatch ICD10:E16.8 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref MESH:D029593 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref OMIM:612347 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref ICD10:I45.8 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref UMLS:C0022387 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref OMIM:220400 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref MedDRA:10057936 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome skos:exactMatch OMIM:220400 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome skos:exactMatch UMLS:C0022387 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome skos:narrowMatch OMIM:612347 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome skos:exactMatch MedDRA:10057936 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome skos:exactMatch MESH:D029593 Unspecified -Orphanet:90647 Jervell and Lange-Nielsen syndrome skos:broadMatch ICD10:I45.8 Unspecified -Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref OMIM:615945 Unspecified -Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:363710 Spinocerebellar ataxia type 37 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:363710 Spinocerebellar ataxia type 37 skos:exactMatch OMIM:615945 Unspecified -Orphanet:97261 GRFoma oboInOwl:hasDbXref ICD10:E16.8 Unspecified -Orphanet:97261 GRFoma oboInOwl:hasDbXref ICD10:C25.9 Unspecified -Orphanet:252046 Meningeal melanocytoma oboInOwl:hasDbXref ICD10:D32.9 Unspecified -Orphanet:252046 Meningeal melanocytoma oboInOwl:hasDbXref UMLS:C1266113 Unspecified -Orphanet:252046 Meningeal melanocytoma skos:exactMatch UMLS:C1266113 Unspecified -Orphanet:252046 Meningeal melanocytoma skos:broadMatch ICD10:D32.9 Unspecified -Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency oboInOwl:hasDbXref OMIM:616095 Unspecified -Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency skos:exactMatch OMIM:616095 Unspecified -Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C3279840 Unspecified -Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref OMIM:614105 Unspecified -Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C3279840 Unspecified -Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch OMIM:614105 Unspecified -Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D18.1 Unspecified -Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:broadMatch ICD10:D18.1 Unspecified -Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:397937 Polyglucosan body myopathy type 1 oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:397937 Polyglucosan body myopathy type 1 oboInOwl:hasDbXref OMIM:615895 Unspecified -Orphanet:397937 Polyglucosan body myopathy type 1 skos:broadMatch OMIM:615895 Unspecified -Orphanet:397937 Polyglucosan body myopathy type 1 skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:464329 Kaposiform lymphangiomatosis oboInOwl:hasDbXref ICD10:D18.1 Unspecified -Orphanet:464329 Kaposiform lymphangiomatosis skos:broadMatch ICD10:D18.1 Unspecified -Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref UMLS:C1844933 Unspecified -Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref OMIM:301840 Unspecified -Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref MESH:C537316 Unspecified -Orphanet:85292 X-linked spinocerebellar ataxia type 4 skos:exactMatch MESH:C537316 Unspecified -Orphanet:85292 X-linked spinocerebellar ataxia type 4 skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:85292 X-linked spinocerebellar ataxia type 4 skos:exactMatch OMIM:301840 Unspecified -Orphanet:85292 X-linked spinocerebellar ataxia type 4 skos:exactMatch UMLS:C1844933 Unspecified -Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome oboInOwl:hasDbXref OMIM:300491 Unspecified -Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome oboInOwl:hasDbXref UMLS:C1845343 Unspecified -Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:exactMatch UMLS:C1845343 Unspecified -Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:exactMatch OMIM:300491 Unspecified -Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation oboInOwl:hasDbXref ICD10:D46 Unspecified -Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea oboInOwl:hasDbXref ICD10:G04.8 Unspecified -Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:broadMatch ICD10:G04.8 Unspecified -Orphanet:363705 Craniofaciofrontodigital syndrome oboInOwl:hasDbXref UMLS:C2676032 Unspecified -Orphanet:363705 Craniofaciofrontodigital syndrome oboInOwl:hasDbXref OMIM:114620 Unspecified -Orphanet:363705 Craniofaciofrontodigital syndrome oboInOwl:hasDbXref ICD10:Q87.0 Unspecified -Orphanet:363705 Craniofaciofrontodigital syndrome skos:exactMatch UMLS:C2676032 Unspecified -Orphanet:363705 Craniofaciofrontodigital syndrome skos:broadMatch ICD10:Q87.0 Unspecified -Orphanet:363705 Craniofaciofrontodigital syndrome skos:exactMatch OMIM:114620 Unspecified -Orphanet:139491 Hemochromatosis type 4 oboInOwl:hasDbXref OMIM:606069 Unspecified -Orphanet:139491 Hemochromatosis type 4 oboInOwl:hasDbXref ICD10:E83.1 Unspecified -Orphanet:139491 Hemochromatosis type 4 oboInOwl:hasDbXref UMLS:C1853733 Unspecified -Orphanet:139491 Hemochromatosis type 4 oboInOwl:hasDbXref MESH:C537249 Unspecified -Orphanet:139491 Hemochromatosis type 4 skos:broadMatch ICD10:E83.1 Unspecified -Orphanet:139491 Hemochromatosis type 4 skos:exactMatch OMIM:606069 Unspecified -Orphanet:139491 Hemochromatosis type 4 skos:exactMatch UMLS:C1853733 Unspecified -Orphanet:139491 Hemochromatosis type 4 skos:exactMatch MESH:C537249 Unspecified -Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:616400 Unspecified -Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:613000 Unspecified -Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma skos:narrowMatch OMIM:616400 Unspecified -Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma skos:narrowMatch OMIM:613000 Unspecified -Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref MedDRA:10039483 Unspecified -Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref UMLS:C0036231 Unspecified -Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref ICD10:A07.8 Unspecified -Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref MESH:D012523 Unspecified -Orphanet:54368 Sarcocystosis skos:exactMatch MESH:D012523 Unspecified -Orphanet:54368 Sarcocystosis skos:exactMatch UMLS:C0036231 Unspecified -Orphanet:54368 Sarcocystosis skos:exactMatch MedDRA:10039483 Unspecified -Orphanet:54368 Sarcocystosis skos:broadMatch ICD10:A07.8 Unspecified -Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) oboInOwl:hasDbXref ICD10:C94.2 Unspecified -Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:broadMatch ICD10:C94.2 Unspecified -Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref UMLS:C0346109 Unspecified -Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref MedDRA:10056558 Unspecified -Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref ICD10:C45.1 Unspecified -Orphanet:168811 Malignant peritoneal mesothelioma skos:exactMatch ICD10:C45.1 Unspecified -Orphanet:168811 Malignant peritoneal mesothelioma skos:exactMatch UMLS:C0346109 Unspecified -Orphanet:168811 Malignant peritoneal mesothelioma skos:exactMatch MedDRA:10056558 Unspecified -Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability oboInOwl:hasDbXref OMIM:614756 Unspecified -Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability oboInOwl:hasDbXref ICD10:G11.0 Unspecified -Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability skos:broadMatch ICD10:G11.0 Unspecified -Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability skos:exactMatch OMIM:614756 Unspecified -Orphanet:254492 Frontal fibrosing alopecia oboInOwl:hasDbXref UMLS:C1274700 Unspecified -Orphanet:254492 Frontal fibrosing alopecia oboInOwl:hasDbXref ICD10:L66.1 Unspecified -Orphanet:254492 Frontal fibrosing alopecia skos:broadMatch ICD10:L66.1 Unspecified -Orphanet:254492 Frontal fibrosing alopecia skos:exactMatch UMLS:C1274700 Unspecified -Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref UMLS:C1842357 Unspecified -Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref OMIM:608236 Unspecified -Orphanet:140481 Autosomal dominant slowed nerve conduction velocity skos:exactMatch UMLS:C1842357 Unspecified -Orphanet:140481 Autosomal dominant slowed nerve conduction velocity skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:140481 Autosomal dominant slowed nerve conduction velocity skos:exactMatch OMIM:608236 Unspecified -Orphanet:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref ICD10:C45.1 Unspecified -Orphanet:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref UMLS:C0206680 Unspecified -Orphanet:168816 Peritoneal cystic mesothelioma skos:broadMatch ICD10:C45.1 Unspecified -Orphanet:168816 Peritoneal cystic mesothelioma skos:exactMatch UMLS:C0206680 Unspecified -Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:616683 Unspecified -Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch OMIM:616683 Unspecified -Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618379 Unspecified -Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy skos:exactMatch OMIM:618379 Unspecified -Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref OMIM:612016 Unspecified -Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref OMIM:619028 Unspecified -Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref UMLS:C2677589 Unspecified -Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency skos:narrowMatch OMIM:619028 Unspecified -Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency skos:narrowMatch OMIM:612016 Unspecified -Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch UMLS:C2677589 Unspecified -Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy oboInOwl:hasDbXref ICD10:G93.4 Unspecified -Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:broadMatch ICD10:G93.4 Unspecified -Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref UMLS:C1835698 Unspecified -Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref ICD10:H16.8 Unspecified -Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref MESH:C537022 Unspecified -Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref OMIM:148190 Unspecified -Orphanet:2334 Autosomal dominant keratitis skos:exactMatch MESH:C537022 Unspecified -Orphanet:2334 Autosomal dominant keratitis skos:exactMatch OMIM:148190 Unspecified -Orphanet:2334 Autosomal dominant keratitis skos:broadMatch ICD10:H16.8 Unspecified -Orphanet:2334 Autosomal dominant keratitis skos:exactMatch UMLS:C1835698 Unspecified -Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref OMIM:614702 Unspecified -Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:exactMatch OMIM:614702 Unspecified -Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:402035 Eosinophilic colitis oboInOwl:hasDbXref ICD10:K52.8 Unspecified -Orphanet:402035 Eosinophilic colitis oboInOwl:hasDbXref UMLS:C0267448 Unspecified -Orphanet:402035 Eosinophilic colitis skos:exactMatch UMLS:C0267448 Unspecified -Orphanet:402035 Eosinophilic colitis skos:broadMatch ICD10:K52.8 Unspecified -Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref UMLS:C1845069 Unspecified -Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref MESH:C537043 Unspecified -Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref OMIM:300650 Unspecified -Orphanet:1000 Ocular albinism with late-onset sensorineural deafness skos:exactMatch MESH:C537043 Unspecified -Orphanet:1000 Ocular albinism with late-onset sensorineural deafness skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:1000 Ocular albinism with late-onset sensorineural deafness skos:exactMatch OMIM:300650 Unspecified -Orphanet:1000 Ocular albinism with late-onset sensorineural deafness skos:exactMatch UMLS:C1845069 Unspecified -Orphanet:2337 Non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1838359 Unspecified -Orphanet:2337 Non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600231 Unspecified -Orphanet:2337 Non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1833030 Unspecified -Orphanet:2337 Non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:2337 Non-epidermolytic palmoplantar keratoderma skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:2337 Non-epidermolytic palmoplantar keratoderma skos:exactMatch OMIM:600231 Unspecified -Orphanet:2337 Non-epidermolytic palmoplantar keratoderma skos:exactMatch UMLS:C1833030 Unspecified -Orphanet:2337 Non-epidermolytic palmoplantar keratoderma skos:exactMatch UMLS:C1838359 Unspecified -Orphanet:2330 Kasabach-Merritt syndrome oboInOwl:hasDbXref OMIM:141000 Unspecified -Orphanet:2330 Kasabach-Merritt syndrome oboInOwl:hasDbXref UMLS:C0221025 Unspecified -Orphanet:2330 Kasabach-Merritt syndrome oboInOwl:hasDbXref MedDRA:10058423 Unspecified -Orphanet:2330 Kasabach-Merritt syndrome oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:2330 Kasabach-Merritt syndrome skos:exactMatch MedDRA:10058423 Unspecified -Orphanet:2330 Kasabach-Merritt syndrome skos:exactMatch OMIM:141000 Unspecified -Orphanet:2330 Kasabach-Merritt syndrome skos:exactMatch UMLS:C0221025 Unspecified -Orphanet:2330 Kasabach-Merritt syndrome skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:1006 Alopecia antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 Unspecified -Orphanet:1006 Alopecia antibody deficiency skos:broadMatch ICD10:D80.8 Unspecified -Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref OMIM:611775 Unspecified -Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref ICD10:M30.3 Unspecified -Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref MedDRA:10023320 Unspecified -Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref UMLS:C0026691 Unspecified -Orphanet:2331 Kawasaki disease skos:exactMatch MedDRA:10023320 Unspecified -Orphanet:2331 Kawasaki disease skos:exactMatch UMLS:C0026691 Unspecified -Orphanet:2331 Kawasaki disease skos:exactMatch ICD10:M30.3 Unspecified -Orphanet:2331 Kawasaki disease skos:exactMatch OMIM:611775 Unspecified -Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 Unspecified -Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:606693 Unspecified -Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis skos:broadMatch ICD10:E75.4 Unspecified -Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis skos:broadMatch OMIM:606693 Unspecified -Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome oboInOwl:hasDbXref OMIM:616682 Unspecified -Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome skos:exactMatch OMIM:616682 Unspecified -Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref UMLS:C0025183 Unspecified -Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome skos:exactMatch UMLS:C0025183 Unspecified -Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref OMIM:104130 Unspecified -Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537057 Unspecified -Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1863090 Unspecified -Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch UMLS:C1863090 Unspecified -Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch OMIM:104130 Unspecified -Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch MESH:C537057 Unspecified -Orphanet:168829 Primary peritoneal carcinoma oboInOwl:hasDbXref ICD10:C48.2 Unspecified -Orphanet:168829 Primary peritoneal carcinoma skos:broadMatch ICD10:C48.2 Unspecified -Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref OMIM:256450 Unspecified -Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency skos:broadMatch OMIM:256450 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref UMLS:C0343057 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:612843 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:604093 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:308800 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref MESH:C536159 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans skos:narrowMatch OMIM:308800 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans skos:exactMatch MESH:C536159 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans skos:narrowMatch OMIM:612843 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans skos:exactMatch UMLS:C0343057 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:2340 Keratosis follicularis spinulosa decalvans skos:broadMatch OMIM:604093 Unspecified -Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref OMIM:601820 Unspecified -Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:broadMatch OMIM:601820 Unspecified -Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:614066 Unspecified -Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:613744 Unspecified -Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:612936 Unspecified -Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:614067 Unspecified -Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:614066 Unspecified -Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:612936 Unspecified -Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:613744 Unspecified -Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:614067 Unspecified -Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref OMIM:615735 Unspecified -Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering skos:exactMatch OMIM:615735 Unspecified -Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref UMLS:C1720860 Unspecified -Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref OMIM:151660 Unspecified -Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:2348 Familial partial lipodystrophy, Dunnigan type skos:exactMatch OMIM:151660 Unspecified -Orphanet:2348 Familial partial lipodystrophy, Dunnigan type skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:2348 Familial partial lipodystrophy, Dunnigan type skos:exactMatch UMLS:C1720860 Unspecified -Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref OMIM:104100 Unspecified -Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref UMLS:C1863093 Unspecified -Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch OMIM:104100 Unspecified -Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch UMLS:C1863093 Unspecified -Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:314667 TMEM165-CDG oboInOwl:hasDbXref OMIM:614727 Unspecified -Orphanet:314667 TMEM165-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:314667 TMEM165-CDG skos:exactMatch OMIM:614727 Unspecified -Orphanet:314667 TMEM165-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref MESH:C537627 Unspecified -Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref UMLS:C1855627 Unspecified -Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref OMIM:245010 Unspecified -Orphanet:2342 Haim-Munk syndrome skos:exactMatch UMLS:C1855627 Unspecified -Orphanet:2342 Haim-Munk syndrome skos:exactMatch MESH:C537627 Unspecified -Orphanet:2342 Haim-Munk syndrome skos:exactMatch OMIM:245010 Unspecified -Orphanet:2342 Haim-Munk syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:617822 Unspecified -Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome skos:exactMatch OMIM:617822 Unspecified -Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:601217 Unspecified -Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C1832593 Unspecified -Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:601217 Unspecified -Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch UMLS:C1832593 Unspecified -Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref OMIM:300423 Unspecified -Orphanet:93952 X-linked intellectual disability, Hedera type skos:exactMatch OMIM:300423 Unspecified -Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbXref ICD10:E03.1 Unspecified -Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbXref UMLS:C0270958 Unspecified -Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome skos:exactMatch UMLS:C0270958 Unspecified -Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome skos:broadMatch ICD10:E03.1 Unspecified -Orphanet:436252 Combined immunodeficiency-enteropathy spectrum oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:436252 Combined immunodeficiency-enteropathy spectrum oboInOwl:hasDbXref OMIM:243150 Unspecified -Orphanet:436252 Combined immunodeficiency-enteropathy spectrum skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:436252 Combined immunodeficiency-enteropathy spectrum skos:exactMatch OMIM:243150 Unspecified -Orphanet:93958 Oromandibular dystonia oboInOwl:hasDbXref ICD10:G24.4 Unspecified -Orphanet:93958 Oromandibular dystonia oboInOwl:hasDbXref UMLS:C0393607 Unspecified -Orphanet:93958 Oromandibular dystonia skos:exactMatch ICD10:G24.4 Unspecified -Orphanet:93958 Oromandibular dystonia skos:exactMatch UMLS:C0393607 Unspecified -Orphanet:314652 Variant ABeta2M amyloidosis oboInOwl:hasDbXref ICD10:E85.1 Unspecified -Orphanet:314652 Variant ABeta2M amyloidosis skos:broadMatch ICD10:E85.1 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:104310 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:605055 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref ICD10:G30.0 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:606889 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:607822 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:602096 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:609790 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:607116 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:611154 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:611152 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:104300 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:609636 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:611073 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:606187 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:605526 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:604154 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref UMLS:C0276496 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:exactMatch UMLS:C0276496 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:611073 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:604154 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:606187 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:611152 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:611154 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:605526 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:609636 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:broadMatch OMIM:104300 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:609790 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:607116 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:605055 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:602096 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:606889 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:607822 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:104310 Unspecified -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease skos:broadMatch ICD10:G30.0 Unspecified -Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref UMLS:C2677586 Unspecified -Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref OMIM:612020 Unspecified -Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:139480 Autosomal recessive spastic paraplegia type 39 skos:exactMatch OMIM:612020 Unspecified -Orphanet:139480 Autosomal recessive spastic paraplegia type 39 skos:exactMatch UMLS:C2677586 Unspecified -Orphanet:139480 Autosomal recessive spastic paraplegia type 39 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome oboInOwl:hasDbXref OMIM:619173 Unspecified -Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome skos:exactMatch OMIM:619173 Unspecified -Orphanet:280774 Generalized essential telangiectasia oboInOwl:hasDbXref UMLS:C0473555 Unspecified -Orphanet:280774 Generalized essential telangiectasia skos:exactMatch UMLS:C0473555 Unspecified -Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIM:617072 Unspecified -Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy skos:exactMatch OMIM:617072 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:614809 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:305800 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:609814 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref MESH:D015432 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C0017662 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:615008 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref MedDRA:10018370 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis skos:exactMatch MedDRA:10018370 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:305800 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:615008 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:609814 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:614809 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis skos:exactMatch MESH:D015432 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis skos:exactMatch UMLS:C0017662 Unspecified -Orphanet:54370 Primary membranoproliferative glomerulonephritis skos:broadMatch ICD10:N03.5 Unspecified -Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref OMIM:204110 Unspecified -Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref MESH:C536604 Unspecified -Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref UMLS:C1857588 Unspecified -Orphanet:1021 Amaurosis-hypertrichosis syndrome skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:1021 Amaurosis-hypertrichosis syndrome skos:exactMatch UMLS:C1857588 Unspecified -Orphanet:1021 Amaurosis-hypertrichosis syndrome skos:exactMatch MESH:C536604 Unspecified -Orphanet:1021 Amaurosis-hypertrichosis syndrome skos:exactMatch OMIM:204110 Unspecified -Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease oboInOwl:hasDbXref OMIM:616117 Unspecified -Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease oboInOwl:hasDbXref ICD10:I45.8 Unspecified -Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease skos:broadMatch ICD10:I45.8 Unspecified -Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease skos:exactMatch OMIM:616117 Unspecified -Orphanet:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy oboInOwl:hasDbXref OMIM:181430 Unspecified -Orphanet:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:exactMatch OMIM:181430 Unspecified -Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616108 Unspecified -Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:narrowMatch ICD10:Q87.8 Unspecified -Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:exactMatch OMIM:616108 Unspecified -Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref UMLS:C3151085 Unspecified -Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref OMIM:613791 Unspecified -Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:331187 Immunodeficiency due to MASP-2 deficiency skos:exactMatch UMLS:C3151085 Unspecified -Orphanet:331187 Immunodeficiency due to MASP-2 deficiency skos:exactMatch OMIM:613791 Unspecified -Orphanet:331187 Immunodeficiency due to MASP-2 deficiency skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref OMIM:615918 Unspecified -Orphanet:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:420733 Combined oxidative phosphorylation defect type 21 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:420733 Combined oxidative phosphorylation defect type 21 skos:exactMatch OMIM:615918 Unspecified -Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy oboInOwl:hasDbXref UMLS:C1969645 Unspecified -Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy oboInOwl:hasDbXref OMIM:611390 Unspecified -Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy skos:exactMatch OMIM:611390 Unspecified -Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy skos:exactMatch UMLS:C1969645 Unspecified -Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref OMIM:105500 Unspecified -Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref UMLS:C0543859 Unspecified -Orphanet:90020 Parkinson-dementia complex of Guam skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:90020 Parkinson-dementia complex of Guam skos:exactMatch UMLS:C0543859 Unspecified -Orphanet:90020 Parkinson-dementia complex of Guam skos:exactMatch OMIM:105500 Unspecified -Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts oboInOwl:hasDbXref ICD10:E23.0 Unspecified -Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts skos:broadMatch ICD10:E23.0 Unspecified -Orphanet:90021 Radiation myelitis oboInOwl:hasDbXref ICD10:G97.8 Unspecified -Orphanet:90021 Radiation myelitis skos:broadMatch ICD10:G97.8 Unspecified -Orphanet:91351 Pituitary dermoid and epidermoid cysts oboInOwl:hasDbXref ICD10:E23.0 Unspecified -Orphanet:91351 Pituitary dermoid and epidermoid cysts skos:broadMatch ICD10:E23.0 Unspecified -Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref OMIM:254130 Unspecified -Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref MESH:C537480 Unspecified -Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref OMIM:613318 Unspecified -Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref UMLS:C1850808 Unspecified -Orphanet:45448 Miyoshi myopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:45448 Miyoshi myopathy skos:exactMatch UMLS:C1850808 Unspecified -Orphanet:45448 Miyoshi myopathy skos:exactMatch MESH:C537480 Unspecified -Orphanet:45448 Miyoshi myopathy skos:narrowMatch OMIM:613318 Unspecified -Orphanet:45448 Miyoshi myopathy skos:exactMatch OMIM:254130 Unspecified -Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies oboInOwl:hasDbXref ICD10:P72.2 Unspecified -Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies skos:broadMatch ICD10:P72.2 Unspecified -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref UMLS:C1835829 Unspecified -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref ICD10:D82.8 Unspecified -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref OMIM:610798 Unspecified -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency skos:exactMatch OMIM:610798 Unspecified -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency skos:exactMatch UMLS:C1835829 Unspecified -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency skos:broadMatch ICD10:D82.8 Unspecified -Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome oboInOwl:hasDbXref ICD10:E23.0 Unspecified -Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome skos:broadMatch ICD10:E23.0 Unspecified -Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref OMIM:133020 Unspecified -Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 Unspecified -Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref UMLS:C0014805 Unspecified -Orphanet:90026 Primary erythromelalgia skos:exactMatch UMLS:C0014805 Unspecified -Orphanet:90026 Primary erythromelalgia skos:broadMatch ICD10:I73.8 Unspecified -Orphanet:90026 Primary erythromelalgia skos:exactMatch OMIM:133020 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274900 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref ICD10:E03.1 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274700 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274500 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref ICD10:E03.0 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274400 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274800 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:607200 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis skos:broadMatch ICD10:E03.0 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274800 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis skos:exactMatch OMIM:274400 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:607200 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis skos:broadMatch ICD10:E03.1 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274500 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274700 Unspecified -Orphanet:95716 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274900 Unspecified -Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:L99.0* Unspecified -Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ Unspecified -Orphanet:49804 Lichen amyloidosis skos:broadMatch ICD10:E85.4+ Unspecified -Orphanet:49804 Lichen amyloidosis skos:broadMatch ICD10:L99.0* Unspecified -Orphanet:95717 Idiopathic congenital hypothyroidism oboInOwl:hasDbXref ICD10:E03.1 Unspecified -Orphanet:95717 Idiopathic congenital hypothyroidism skos:broadMatch ICD10:E03.1 Unspecified -Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref MedDRA:10049058 Unspecified -Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref MESH:D017359 Unspecified -Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref UMLS:C0162739 Unspecified -Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref ICD10:O14.2 Unspecified -Orphanet:244242 HELLP syndrome skos:exactMatch ICD10:O14.2 Unspecified -Orphanet:244242 HELLP syndrome skos:exactMatch MESH:D017359 Unspecified -Orphanet:244242 HELLP syndrome skos:exactMatch MedDRA:10049058 Unspecified -Orphanet:244242 HELLP syndrome skos:exactMatch UMLS:C0162739 Unspecified -Orphanet:91359 Chronic pneumonitis of infancy oboInOwl:hasDbXref ICD10:J84.0 Unspecified -Orphanet:91359 Chronic pneumonitis of infancy skos:broadMatch ICD10:J84.0 Unspecified -Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref OMIM:272750 Unspecified -Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref ICD10:E75.0 Unspecified -Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref UMLS:C0268275 Unspecified -Orphanet:309246 GM2 gangliosidosis, AB variant skos:exactMatch UMLS:C0268275 Unspecified -Orphanet:309246 GM2 gangliosidosis, AB variant skos:exactMatch OMIM:272750 Unspecified -Orphanet:309246 GM2 gangliosidosis, AB variant skos:broadMatch ICD10:E75.0 Unspecified -Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref ICD10:E55.0 Unspecified -Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref OMIM:600081 Unspecified -Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref UMLS:C0268689 Unspecified -Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref OMIM:264700 Unspecified -Orphanet:289157 Hypocalcemic vitamin D-dependent rickets skos:broadMatch ICD10:E55.0 Unspecified -Orphanet:289157 Hypocalcemic vitamin D-dependent rickets skos:exactMatch UMLS:C0268689 Unspecified -Orphanet:289157 Hypocalcemic vitamin D-dependent rickets skos:exactMatch OMIM:264700 Unspecified -Orphanet:289157 Hypocalcemic vitamin D-dependent rickets skos:narrowMatch OMIM:600081 Unspecified -Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy oboInOwl:hasDbXref ICD10:H47.2 Unspecified -Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy skos:broadMatch ICD10:H47.2 Unspecified -Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref OMIM:613860 Unspecified -Orphanet:331190 Immunodeficiency due to ficolin3 deficiency skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:331190 Immunodeficiency due to ficolin3 deficiency skos:exactMatch OMIM:613860 Unspecified -Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref OMIM:601952 Unspecified -Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref UMLS:C1866029 Unspecified -Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch UMLS:C1866029 Unspecified -Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch OMIM:601952 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.1 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.3 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.9 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref OMIM:612388 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref OMIM:181000 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref MESH:D012507 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref MedDRA:10039486 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.0 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.2 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.8 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref OMIM:612387 Unspecified -Orphanet:797 Sarcoidosis oboInOwl:hasDbXref UMLS:C0036202 Unspecified -Orphanet:797 Sarcoidosis skos:exactMatch UMLS:C0036202 Unspecified -Orphanet:797 Sarcoidosis skos:narrowMatch OMIM:612388 Unspecified -Orphanet:797 Sarcoidosis skos:narrowMatch ICD10:D86.3 Unspecified -Orphanet:797 Sarcoidosis skos:narrowMatch ICD10:D86.1 Unspecified -Orphanet:797 Sarcoidosis skos:narrowMatch ICD10:D86.9 Unspecified -Orphanet:797 Sarcoidosis skos:exactMatch MESH:D012507 Unspecified -Orphanet:797 Sarcoidosis skos:exactMatch OMIM:181000 Unspecified -Orphanet:797 Sarcoidosis skos:exactMatch MedDRA:10039486 Unspecified -Orphanet:797 Sarcoidosis skos:narrowMatch OMIM:612387 Unspecified -Orphanet:797 Sarcoidosis skos:narrowMatch ICD10:D86.2 Unspecified -Orphanet:797 Sarcoidosis skos:narrowMatch ICD10:D86.8 Unspecified -Orphanet:797 Sarcoidosis skos:narrowMatch ICD10:D86.0 Unspecified -Orphanet:796 Sandhoff disease oboInOwl:hasDbXref MESH:D012497 Unspecified -Orphanet:796 Sandhoff disease oboInOwl:hasDbXref ICD10:E75.0 Unspecified -Orphanet:796 Sandhoff disease oboInOwl:hasDbXref OMIM:268800 Unspecified -Orphanet:796 Sandhoff disease oboInOwl:hasDbXref UMLS:C0036161 Unspecified -Orphanet:796 Sandhoff disease skos:broadMatch ICD10:E75.0 Unspecified -Orphanet:796 Sandhoff disease skos:exactMatch UMLS:C0036161 Unspecified -Orphanet:796 Sandhoff disease skos:exactMatch MESH:D012497 Unspecified -Orphanet:796 Sandhoff disease skos:exactMatch OMIM:268800 Unspecified -Orphanet:799 Schizencephaly oboInOwl:hasDbXref UMLS:C0266484 Unspecified -Orphanet:799 Schizencephaly oboInOwl:hasDbXref ICD10:Q04.6 Unspecified -Orphanet:799 Schizencephaly oboInOwl:hasDbXref OMIM:269160 Unspecified -Orphanet:799 Schizencephaly skos:exactMatch UMLS:C0266484 Unspecified -Orphanet:799 Schizencephaly skos:exactMatch OMIM:269160 Unspecified -Orphanet:799 Schizencephaly skos:broadMatch ICD10:Q04.6 Unspecified -Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref UMLS:C0025294 Unspecified -Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref MedDRA:10027249 Unspecified -Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref ICD10:G01* Unspecified -Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref ICD10:A39.0+ Unspecified -Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref MESH:D008585 Unspecified -Orphanet:33475 Meningococcal meningitis skos:exactMatch ICD10:A39.0+ Unspecified -Orphanet:33475 Meningococcal meningitis skos:exactMatch MESH:D008585 Unspecified -Orphanet:33475 Meningococcal meningitis skos:exactMatch ICD10:G01* Unspecified -Orphanet:33475 Meningococcal meningitis skos:exactMatch UMLS:C0025294 Unspecified -Orphanet:33475 Meningococcal meningitis skos:exactMatch MedDRA:10027249 Unspecified -Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome oboInOwl:hasDbXref OMIM:617183 Unspecified -Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome skos:exactMatch OMIM:617183 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615780 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617023 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618220 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612165 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600852 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:607921 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613809 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613801 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:619007 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613731 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:601718 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618613 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:604232 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613575 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613582 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612572 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618697 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:611131 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615922 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:312612 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180105 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612712 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:608380 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618826 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:608133 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref MedDRA:10038914 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615434 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612095 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300424 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612943 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613861 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617304 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:604393 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:610282 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614181 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613827 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613810 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618345 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:268025 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616394 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:609923 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:602594 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180210 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613341 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:400004 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615725 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616544 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613194 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616562 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618955 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615565 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:606068 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617433 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613983 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300029 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613758 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613756 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613750 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:610359 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616469 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:602772 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600105 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref UMLS:C0035334 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600138 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600132 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613581 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614500 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613769 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617460 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613767 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613794 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600059 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618173 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300605 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613464 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180104 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180100 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:312600 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:610599 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615233 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618195 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614494 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613862 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300155 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:268000 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613617 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614180 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617781 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617123 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:268060 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613428 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616188 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref MESH:D012174 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613660 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:601414 Unspecified -Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:609913 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:312600 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:180100 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:180104 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:600059 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:300605 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613464 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:268060 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613428 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:617123 Unspecified -Orphanet:791 Retinitis pigmentosa skos:exactMatch MESH:D012174 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:601414 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:609913 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613617 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613862 Unspecified -Orphanet:791 Retinitis pigmentosa skos:exactMatch OMIM:268000 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613983 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:300029 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:616469 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:610359 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:610599 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:615233 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:614494 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:618195 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:618173 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:602594 Unspecified -Orphanet:791 Retinitis pigmentosa skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:180210 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:400004 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:615725 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:600138 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613581 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:600132 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:602772 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:600105 Unspecified -Orphanet:791 Retinitis pigmentosa skos:exactMatch UMLS:C0035334 Unspecified -Orphanet:791 Retinitis pigmentosa skos:broadMatch OMIM:613660 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613794 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:617460 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613767 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613769 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613750 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613756 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613758 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:617433 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:300155 Unspecified -Orphanet:791 Retinitis pigmentosa skos:broadMatch OMIM:613341 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:614180 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:617781 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:616562 Unspecified -Orphanet:791 Retinitis pigmentosa skos:broadMatch OMIM:614500 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:616544 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613194 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:615565 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:606068 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:312612 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:180105 Unspecified -Orphanet:791 Retinitis pigmentosa skos:broadMatch OMIM:604232 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:618345 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:609923 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:268025 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:616394 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:610282 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613861 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:617304 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:618613 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:601718 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:618826 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:608133 Unspecified -Orphanet:791 Retinitis pigmentosa skos:broadMatch OMIM:612712 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:608380 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:612943 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:612095 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:615434 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:300424 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:612165 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:617023 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:618220 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613582 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613575 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:618697 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:615922 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:611131 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:612572 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613731 Unspecified -Orphanet:791 Retinitis pigmentosa skos:broadMatch OMIM:604393 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:614181 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613827 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613810 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613801 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:613809 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:607921 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:600852 Unspecified -Orphanet:791 Retinitis pigmentosa skos:exactMatch MedDRA:10038914 Unspecified -Orphanet:791 Retinitis pigmentosa skos:narrowMatch OMIM:615780 Unspecified -Orphanet:790 Retinoblastoma oboInOwl:hasDbXref MedDRA:10038916 Unspecified -Orphanet:790 Retinoblastoma oboInOwl:hasDbXref MESH:D012175 Unspecified -Orphanet:790 Retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 Unspecified -Orphanet:790 Retinoblastoma oboInOwl:hasDbXref OMIM:180200 Unspecified -Orphanet:790 Retinoblastoma oboInOwl:hasDbXref UMLS:C0035335 Unspecified -Orphanet:790 Retinoblastoma skos:exactMatch ICD10:C69.2 Unspecified -Orphanet:790 Retinoblastoma skos:exactMatch MESH:D012175 Unspecified -Orphanet:790 Retinoblastoma skos:exactMatch MedDRA:10038916 Unspecified -Orphanet:790 Retinoblastoma skos:exactMatch UMLS:C0035335 Unspecified -Orphanet:790 Retinoblastoma skos:exactMatch OMIM:180200 Unspecified -Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref MedDRA:10051316 Unspecified -Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref UMLS:C0263859 Unspecified -Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref ICD10:M86.3 Unspecified -Orphanet:793 SAPHO syndrome skos:exactMatch UMLS:C0263859 Unspecified -Orphanet:793 SAPHO syndrome skos:broadMatch ICD10:M86.3 Unspecified -Orphanet:793 SAPHO syndrome skos:exactMatch MedDRA:10051316 Unspecified -Orphanet:449566 Eosinophilic angiocentric fibrosis oboInOwl:hasDbXref ICD10:J39.8 Unspecified -Orphanet:449566 Eosinophilic angiocentric fibrosis skos:broadMatch ICD10:J39.8 Unspecified -Orphanet:448237 Zika virus disease oboInOwl:hasDbXref ICD10:A92.5 Unspecified -Orphanet:448237 Zika virus disease skos:exactMatch ICD10:A92.5 Unspecified -Orphanet:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref OMIM:615917 Unspecified -Orphanet:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:420728 Combined oxidative phosphorylation defect type 20 skos:exactMatch OMIM:615917 Unspecified -Orphanet:420728 Combined oxidative phosphorylation defect type 20 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:402082 Progressive myoclonic epilepsy type 5 oboInOwl:hasDbXref OMIM:607459 Unspecified -Orphanet:402082 Progressive myoclonic epilepsy type 5 oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:402082 Progressive myoclonic epilepsy type 5 skos:broadMatch OMIM:607459 Unspecified -Orphanet:402082 Progressive myoclonic epilepsy type 5 skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:91349 Non-functioning pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 Unspecified -Orphanet:91349 Non-functioning pituitary adenoma oboInOwl:hasDbXref UMLS:C0338078 Unspecified -Orphanet:91349 Non-functioning pituitary adenoma skos:exactMatch UMLS:C0338078 Unspecified -Orphanet:91349 Non-functioning pituitary adenoma skos:broadMatch ICD10:D35.2 Unspecified -Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref UMLS:C1859978 Unspecified -Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref ICD10:E27.1 Unspecified -Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref OMIM:202150 Unspecified -Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:broadMatch ICD10:E27.1 Unspecified -Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch UMLS:C1859978 Unspecified -Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch OMIM:202150 Unspecified -Orphanet:91347 TSH-secreting pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 Unspecified -Orphanet:91347 TSH-secreting pituitary adenoma oboInOwl:hasDbXref UMLS:C0346303 Unspecified -Orphanet:91347 TSH-secreting pituitary adenoma skos:broadMatch ICD10:D35.2 Unspecified -Orphanet:91347 TSH-secreting pituitary adenoma skos:exactMatch UMLS:C0346303 Unspecified -Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref ICD10:E27.1 Unspecified -Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref UMLS:C0220766 Unspecified -Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref UMLS:C0342482 Unspecified -Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref OMIM:300200 Unspecified -Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref OMIM:202155 Unspecified -Orphanet:95702 X-linked adrenal hypoplasia congenita skos:narrowMatch OMIM:202155 Unspecified -Orphanet:95702 X-linked adrenal hypoplasia congenita skos:broadMatch ICD10:E27.1 Unspecified -Orphanet:95702 X-linked adrenal hypoplasia congenita skos:exactMatch OMIM:300200 Unspecified -Orphanet:95702 X-linked adrenal hypoplasia congenita skos:exactMatch UMLS:C0342482 Unspecified -Orphanet:95702 X-linked adrenal hypoplasia congenita skos:exactMatch UMLS:C0220766 Unspecified -Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome oboInOwl:hasDbXref OMIM:616276 Unspecified -Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:exactMatch OMIM:616276 Unspecified -Orphanet:91348 Functioning gonadotropic adenoma oboInOwl:hasDbXref ICD10:D35.2 Unspecified -Orphanet:91348 Functioning gonadotropic adenoma oboInOwl:hasDbXref UMLS:C0346304 Unspecified -Orphanet:91348 Functioning gonadotropic adenoma skos:exactMatch UMLS:C0346304 Unspecified -Orphanet:91348 Functioning gonadotropic adenoma skos:broadMatch ICD10:D35.2 Unspecified -Orphanet:45453 Incessant infant ventricular tachycardia oboInOwl:hasDbXref ICD10:I47.2 Unspecified -Orphanet:45453 Incessant infant ventricular tachycardia oboInOwl:hasDbXref UMLS:C0340487 Unspecified -Orphanet:45453 Incessant infant ventricular tachycardia skos:broadMatch ICD10:I47.2 Unspecified -Orphanet:45453 Incessant infant ventricular tachycardia skos:exactMatch UMLS:C0340487 Unspecified -Orphanet:45452 Idiopathic neonatal atrial flutter oboInOwl:hasDbXref ICD10:P29.1 Unspecified -Orphanet:45452 Idiopathic neonatal atrial flutter skos:broadMatch ICD10:P29.1 Unspecified -Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref UMLS:C0003949 Unspecified -Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref ICD10:J61 Unspecified -Orphanet:2302 Asbestos intoxication skos:broadMatch ICD10:J61 Unspecified -Orphanet:2302 Asbestos intoxication skos:exactMatch UMLS:C0003949 Unspecified -Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref OMIM:609508 Unspecified -Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref ICD10:H33.0 Unspecified -Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref UMLS:C1836081 Unspecified -Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment skos:exactMatch UMLS:C1836081 Unspecified -Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment skos:broadMatch ICD10:H33.0 Unspecified -Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment skos:broadMatch OMIM:609508 Unspecified -Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref ICD10:L95.1 Unspecified -Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref MedDRA:10056968 Unspecified -Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref UMLS:C0263398 Unspecified -Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref MESH:C535509 Unspecified -Orphanet:90000 Erythema elevatum diutinum skos:exactMatch ICD10:L95.1 Unspecified -Orphanet:90000 Erythema elevatum diutinum skos:exactMatch MedDRA:10056968 Unspecified -Orphanet:90000 Erythema elevatum diutinum skos:exactMatch UMLS:C0263398 Unspecified -Orphanet:90000 Erythema elevatum diutinum skos:exactMatch MESH:C535509 Unspecified -Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:260130 Unspecified -Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:167200 Unspecified -Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:615728 Unspecified -Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:615726 Unspecified -Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref UMLS:C0265334 Unspecified -Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:167210 Unspecified -Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref ICD10:Q84.5 Unspecified -Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref MESH:D053549 Unspecified -Orphanet:2309 Pachyonychia congenita skos:exactMatch UMLS:C0265334 Unspecified -Orphanet:2309 Pachyonychia congenita skos:narrowMatch OMIM:167200 Unspecified -Orphanet:2309 Pachyonychia congenita skos:narrowMatch OMIM:260130 Unspecified -Orphanet:2309 Pachyonychia congenita skos:exactMatch MESH:D053549 Unspecified -Orphanet:2309 Pachyonychia congenita skos:narrowMatch OMIM:615726 Unspecified -Orphanet:2309 Pachyonychia congenita skos:narrowMatch OMIM:615728 Unspecified -Orphanet:2309 Pachyonychia congenita skos:narrowMatch OMIM:167210 Unspecified -Orphanet:2309 Pachyonychia congenita skos:broadMatch ICD10:Q84.5 Unspecified -Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref MedDRA:10071575 Unspecified -Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref ICD10:M35.8 Unspecified -Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref UMLS:C0409999 Unspecified -Orphanet:90002 Undifferentiated connective tissue syndrome skos:broadMatch ICD10:M35.8 Unspecified -Orphanet:90002 Undifferentiated connective tissue syndrome skos:exactMatch UMLS:C0409999 Unspecified -Orphanet:90002 Undifferentiated connective tissue syndrome skos:exactMatch MedDRA:10071575 Unspecified -Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref ICD10:Q21.0 Unspecified -Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref MESH:C536510 Unspecified -Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS:C0342287 Unspecified -Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref OMIM:249270 Unspecified -Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome skos:exactMatch UMLS:C0342287 Unspecified -Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome skos:exactMatch OMIM:249270 Unspecified -Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome skos:exactMatch MESH:C536510 Unspecified -Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome skos:exactMatch ICD10:Q21.0 Unspecified -Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref ICD10:H53.8 Unspecified -Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref UMLS:C3159311 Unspecified -Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref OMIM:300843 Unspecified -Orphanet:90001 X-linked cone dysfunction syndrome with myopia skos:exactMatch OMIM:300843 Unspecified -Orphanet:90001 X-linked cone dysfunction syndrome with myopia skos:broadMatch ICD10:H53.8 Unspecified -Orphanet:90001 X-linked cone dysfunction syndrome with myopia skos:exactMatch UMLS:C3159311 Unspecified -Orphanet:90003 Inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 Unspecified -Orphanet:90003 Inflammatory pseudotumor of the liver skos:broadMatch ICD10:K75.8 Unspecified -Orphanet:208524 Herpetiform pemphigus oboInOwl:hasDbXref ICD10:L10.8 Unspecified -Orphanet:208524 Herpetiform pemphigus skos:broadMatch ICD10:L10.8 Unspecified -Orphanet:598363 Multisystem inflammatory syndrome in children and adults oboInOwl:hasDbXref ICD10:U10.9 Unspecified -Orphanet:598363 Multisystem inflammatory syndrome in children and adults skos:broadMatch ICD10:U10.9 Unspecified -Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref OMIM:616291 Unspecified -Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome skos:exactMatch OMIM:616291 Unspecified -Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref ICD10:P59.8 Unspecified -Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref OMIM:237900 Unspecified -Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref UMLS:C0270210 Unspecified -Orphanet:2312 Transient familial neonatal hyperbilirubinemia skos:exactMatch UMLS:C0270210 Unspecified -Orphanet:2312 Transient familial neonatal hyperbilirubinemia skos:broadMatch ICD10:P59.8 Unspecified -Orphanet:2312 Transient familial neonatal hyperbilirubinemia skos:exactMatch OMIM:237900 Unspecified -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref ICD10:D70 Unspecified -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref UMLS:C2675526 Unspecified -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref OMIM:612541 Unspecified -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:broadMatch ICD10:D70 Unspecified -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch OMIM:612541 Unspecified -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch UMLS:C2675526 Unspecified -Orphanet:2314 Autosomal dominant hyper-IgE syndrome oboInOwl:hasDbXref OMIM:147060 Unspecified -Orphanet:2314 Autosomal dominant hyper-IgE syndrome oboInOwl:hasDbXref UMLS:C2936739 Unspecified -Orphanet:2314 Autosomal dominant hyper-IgE syndrome oboInOwl:hasDbXref ICD10:D82.4 Unspecified -Orphanet:2314 Autosomal dominant hyper-IgE syndrome oboInOwl:hasDbXref UMLS:C3887645 Unspecified -Orphanet:2314 Autosomal dominant hyper-IgE syndrome oboInOwl:hasDbXref UMLS:C3489795 Unspecified -Orphanet:2314 Autosomal dominant hyper-IgE syndrome skos:exactMatch UMLS:C2936739 Unspecified -Orphanet:2314 Autosomal dominant hyper-IgE syndrome skos:exactMatch UMLS:C3887645 Unspecified -Orphanet:2314 Autosomal dominant hyper-IgE syndrome skos:exactMatch UMLS:C3489795 Unspecified -Orphanet:2314 Autosomal dominant hyper-IgE syndrome skos:broadMatch ICD10:D82.4 Unspecified -Orphanet:2314 Autosomal dominant hyper-IgE syndrome skos:exactMatch OMIM:147060 Unspecified -Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency oboInOwl:hasDbXref ICD10:D70 Unspecified -Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency oboInOwl:hasDbXref OMIM:617014 Unspecified -Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch OMIM:617014 Unspecified -Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:broadMatch ICD10:D70 Unspecified -Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref ICD10:Q78.8 Unspecified -Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref UMLS:C1842465 Unspecified -Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref OMIM:608154 Unspecified -Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch OMIM:608154 Unspecified -Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch UMLS:C1842465 Unspecified -Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome skos:broadMatch ICD10:Q78.8 Unspecified -Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:1070 Anisakiasis oboInOwl:hasDbXref ICD10:B81.0 Unspecified -Orphanet:1070 Anisakiasis oboInOwl:hasDbXref UMLS:C2711591 Unspecified -Orphanet:1070 Anisakiasis oboInOwl:hasDbXref UMLS:C0162576 Unspecified -Orphanet:1070 Anisakiasis oboInOwl:hasDbXref MESH:D017129 Unspecified -Orphanet:1070 Anisakiasis oboInOwl:hasDbXref MedDRA:10002533 Unspecified -Orphanet:1070 Anisakiasis skos:exactMatch MESH:D017129 Unspecified -Orphanet:1070 Anisakiasis skos:exactMatch MedDRA:10002533 Unspecified -Orphanet:1070 Anisakiasis skos:exactMatch UMLS:C0162576 Unspecified -Orphanet:1070 Anisakiasis skos:exactMatch UMLS:C2711591 Unspecified -Orphanet:1070 Anisakiasis skos:exactMatch ICD10:B81.0 Unspecified -Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref OMIM:117360 Unspecified -Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref ICD10:G11.0 Unspecified -Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref UMLS:C1861732 Unspecified -Orphanet:208513 Spinocerebellar ataxia type 29 skos:exactMatch UMLS:C1861732 Unspecified -Orphanet:208513 Spinocerebellar ataxia type 29 skos:broadMatch ICD10:G11.0 Unspecified -Orphanet:208513 Spinocerebellar ataxia type 29 skos:exactMatch OMIM:117360 Unspecified -Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref MedDRA:10019054 Unspecified -Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref UMLS:C0349633 Unspecified -Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref ICD10:C91.4 Unspecified -Orphanet:300878 Hairy cell leukemia variant skos:exactMatch UMLS:C0349633 Unspecified -Orphanet:300878 Hairy cell leukemia variant skos:broadMatch ICD10:C91.4 Unspecified -Orphanet:300878 Hairy cell leukemia variant skos:exactMatch MedDRA:10019054 Unspecified -Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref OMIM:308350 Unspecified -Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy skos:broadMatch OMIM:308350 Unspecified -Orphanet:90068 Cocaine intoxication oboInOwl:hasDbXref ICD10:T40.5 Unspecified -Orphanet:90068 Cocaine intoxication skos:exactMatch ICD10:T40.5 Unspecified -Orphanet:90069 Systemic monochloroacetate poisoning oboInOwl:hasDbXref ICD10:T60.3 Unspecified -Orphanet:90069 Systemic monochloroacetate poisoning skos:broadMatch ICD10:T60.3 Unspecified -Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency oboInOwl:hasDbXref OMIM:613116 Unspecified -Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency oboInOwl:hasDbXref ICD10:D68.5 Unspecified -Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:broadMatch ICD10:D68.5 Unspecified -Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch OMIM:613116 Unspecified -Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref UMLS:C1837530 Unspecified -Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref OMIM:608688 Unspecified -Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:250977 AICA-ribosiduria skos:exactMatch OMIM:608688 Unspecified -Orphanet:250977 AICA-ribosiduria skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:250977 AICA-ribosiduria skos:exactMatch UMLS:C1837530 Unspecified -Orphanet:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref UMLS:C1858080 Unspecified -Orphanet:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:364055 Severe early-childhood-onset retinal dystrophy skos:exactMatch UMLS:C1858080 Unspecified -Orphanet:364055 Severe early-childhood-onset retinal dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects oboInOwl:hasDbXref ICD10:Q04.3 Unspecified -Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects skos:broadMatch ICD10:Q04.3 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:188550 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:616534 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:188470 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:603744 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:606240 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:603386 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:616535 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma skos:broadMatch OMIM:188550 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:616534 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:603744 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:606240 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:188470 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma skos:broadMatch ICD10:C73 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:603386 Unspecified -Orphanet:319487 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:616535 Unspecified -Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref UMLS:C0035344 Unspecified -Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref OMIM:133780 Unspecified -Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref MESH:D012178 Unspecified -Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref ICD10:H35.1 Unspecified -Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref MedDRA:10038933 Unspecified -Orphanet:90050 Retinopathy of prematurity skos:exactMatch MedDRA:10038933 Unspecified -Orphanet:90050 Retinopathy of prematurity skos:exactMatch MESH:D012178 Unspecified -Orphanet:90050 Retinopathy of prematurity skos:exactMatch ICD10:H35.1 Unspecified -Orphanet:90050 Retinopathy of prematurity skos:exactMatch UMLS:C0035344 Unspecified -Orphanet:90050 Retinopathy of prematurity skos:broadMatch OMIM:133780 Unspecified -Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref MedDRA:10007729 Unspecified -Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref MESH:D002372 Unspecified -Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref UMLS:C0007361 Unspecified -Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref ICD10:A28.1 Unspecified -Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref UMLS:C0238909 Unspecified -Orphanet:50839 Cat-scratch disease skos:exactMatch UMLS:C0238909 Unspecified -Orphanet:50839 Cat-scratch disease skos:exactMatch MedDRA:10007729 Unspecified -Orphanet:50839 Cat-scratch disease skos:exactMatch UMLS:C0007361 Unspecified -Orphanet:50839 Cat-scratch disease skos:exactMatch ICD10:A28.1 Unspecified -Orphanet:50839 Cat-scratch disease skos:exactMatch MESH:D002372 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:617168 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:615436 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:611788 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:613780 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:609192 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:615582 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:132900 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:607086 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:616166 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:614816 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref ICD10:I71.2 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:610168 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:607087 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:613780 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:611788 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:615436 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:617168 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:broadMatch ICD10:I71.2 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:607086 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:615582 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:broadMatch OMIM:610168 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:132900 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:616166 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:614816 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:607087 Unspecified -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection skos:broadMatch OMIM:609192 Unspecified -Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation oboInOwl:hasDbXref ICD10:C83.3 Unspecified -Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation skos:broadMatch ICD10:C83.3 Unspecified -Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome oboInOwl:hasDbXref OMIM:617207 Unspecified -Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:exactMatch OMIM:617207 Unspecified -Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 Unspecified -Orphanet:364043 ALK-positive large B-cell lymphoma skos:broadMatch ICD10:C83.3 Unspecified -Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref OMIM:614575 Unspecified -Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch OMIM:614575 Unspecified -Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref UMLS:C0152264 Unspecified -Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref OMIM:133100 Unspecified -Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref ICD10:D75.0 Unspecified -Orphanet:90042 Primary familial polycythemia skos:broadMatch ICD10:D75.0 Unspecified -Orphanet:90042 Primary familial polycythemia skos:exactMatch OMIM:133100 Unspecified -Orphanet:90042 Primary familial polycythemia skos:exactMatch UMLS:C0152264 Unspecified -Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref UMLS:C2677897 Unspecified -Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref OMIM:300750 Unspecified -Orphanet:171607 X-linked spastic paraplegia type 34 skos:exactMatch OMIM:300750 Unspecified -Orphanet:171607 X-linked spastic paraplegia type 34 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:171607 X-linked spastic paraplegia type 34 skos:exactMatch UMLS:C2677897 Unspecified -Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref MedDRA:10053885 Unspecified -Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref UMLS:C0541719 Unspecified -Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref MedDRA:10042217 Unspecified -Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref ICD10:D75.1 Unspecified -Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref UMLS:C2242785 Unspecified -Orphanet:90041 Gaisböck syndrome skos:exactMatch UMLS:C2242785 Unspecified -Orphanet:90041 Gaisböck syndrome skos:exactMatch MedDRA:10042217 Unspecified -Orphanet:90041 Gaisböck syndrome skos:broadMatch ICD10:D75.1 Unspecified -Orphanet:90041 Gaisböck syndrome skos:exactMatch UMLS:C0541719 Unspecified -Orphanet:90041 Gaisböck syndrome skos:exactMatch MedDRA:10053885 Unspecified -Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref ICD10:D58.8 Unspecified -Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref UMLS:C1836705 Unspecified -Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref OMIM:609153 Unspecified -Orphanet:90044 Familial pseudohyperkalemia skos:exactMatch OMIM:609153 Unspecified -Orphanet:90044 Familial pseudohyperkalemia skos:exactMatch UMLS:C1836705 Unspecified -Orphanet:90044 Familial pseudohyperkalemia skos:broadMatch ICD10:D58.8 Unspecified -Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref MedDRA:10015099 Unspecified -Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref UMLS:C0205944 Unspecified -Orphanet:293202 Epithelioid sarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:293202 Epithelioid sarcoma skos:exactMatch UMLS:C0205944 Unspecified -Orphanet:293202 Epithelioid sarcoma skos:exactMatch MedDRA:10015099 Unspecified -Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref UMLS:C0342705 Unspecified -Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref ICD10:D52.8 Unspecified -Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref OMIM:229050 Unspecified -Orphanet:90045 Hereditary folate malabsorption skos:exactMatch OMIM:229050 Unspecified -Orphanet:90045 Hereditary folate malabsorption skos:broadMatch ICD10:D52.8 Unspecified -Orphanet:90045 Hereditary folate malabsorption skos:exactMatch UMLS:C0342705 Unspecified -Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref OMIM:613312 Unspecified -Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref ICD10:E83.3 Unspecified -Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref OMIM:241520 Unspecified -Orphanet:289176 Autosomal recessive hypophosphatemic rickets skos:narrowMatch OMIM:241520 Unspecified -Orphanet:289176 Autosomal recessive hypophosphatemic rickets skos:broadMatch ICD10:E83.3 Unspecified -Orphanet:289176 Autosomal recessive hypophosphatemic rickets skos:narrowMatch OMIM:613312 Unspecified -Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref ICD10:K00.8 Unspecified -Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref OMIM:125350 Unspecified -Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref UMLS:C1852222 Unspecified -Orphanet:412206 Primary failure of tooth eruption skos:exactMatch OMIM:125350 Unspecified -Orphanet:412206 Primary failure of tooth eruption skos:exactMatch UMLS:C1852222 Unspecified -Orphanet:412206 Primary failure of tooth eruption skos:broadMatch ICD10:K00.8 Unspecified -Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref ICD10:I77.4 Unspecified -Orphanet:293208 Celiac artery compression syndrome skos:exactMatch ICD10:I77.4 Unspecified -Orphanet:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref OMIM:182170 Unspecified -Orphanet:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 Unspecified -Orphanet:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref OMIM:205950 Unspecified -Orphanet:260305 Autosomal recessive sideroblastic anemia skos:narrowMatch OMIM:205950 Unspecified -Orphanet:260305 Autosomal recessive sideroblastic anemia skos:narrowMatch OMIM:182170 Unspecified -Orphanet:260305 Autosomal recessive sideroblastic anemia skos:broadMatch ICD10:D64.0 Unspecified -Orphanet:364039 Hydroa vacciniforme-like lymphoma oboInOwl:hasDbXref ICD10:C84.5 Unspecified -Orphanet:364039 Hydroa vacciniforme-like lymphoma skos:broadMatch ICD10:C84.5 Unspecified -Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oboInOwl:hasDbXref ICD10:D47.9 Unspecified -Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:broadMatch ICD10:D47.9 Unspecified -Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref UMLS:C2936880 Unspecified -Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref OMIM:611945 Unspecified -Orphanet:171612 Autosomal dominant spastic paraplegia type 37 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:171612 Autosomal dominant spastic paraplegia type 37 skos:exactMatch OMIM:611945 Unspecified -Orphanet:171612 Autosomal dominant spastic paraplegia type 37 skos:exactMatch UMLS:C2936880 Unspecified -Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref OMIM:612335 Unspecified -Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref UMLS:C2676732 Unspecified -Orphanet:171617 Autosomal dominant spastic paraplegia type 38 skos:exactMatch UMLS:C2676732 Unspecified -Orphanet:171617 Autosomal dominant spastic paraplegia type 38 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:171617 Autosomal dominant spastic paraplegia type 38 skos:exactMatch OMIM:612335 Unspecified -Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref OMIM:235700 Unspecified -Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref ICD10:D55.2 Unspecified -Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency skos:broadMatch ICD10:D55.2 Unspecified -Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch OMIM:235700 Unspecified -Orphanet:91364 Non-specific interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.8 Unspecified -Orphanet:91364 Non-specific interstitial pneumonia oboInOwl:hasDbXref UMLS:C1290344 Unspecified -Orphanet:91364 Non-specific interstitial pneumonia skos:exactMatch UMLS:C1290344 Unspecified -Orphanet:91364 Non-specific interstitial pneumonia skos:broadMatch ICD10:J84.8 Unspecified -Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref OMIM:618660 Unspecified -Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref ICD10:D55.1 Unspecified -Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref OMIM:618667 Unspecified -Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency skos:narrowMatch OMIM:618667 Unspecified -Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency skos:exactMatch OMIM:618660 Unspecified -Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency skos:broadMatch ICD10:D55.1 Unspecified -Orphanet:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref ICD10:D59.1 Unspecified -Orphanet:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref UMLS:C0272118 Unspecified -Orphanet:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref MedDRA:10047822 Unspecified -Orphanet:90033 Autoimmune hemolytic anemia, warm type skos:exactMatch MedDRA:10047822 Unspecified -Orphanet:90033 Autoimmune hemolytic anemia, warm type skos:exactMatch UMLS:C0272118 Unspecified -Orphanet:90033 Autoimmune hemolytic anemia, warm type skos:broadMatch ICD10:D59.1 Unspecified -Orphanet:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref MESH:C538618 Unspecified -Orphanet:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref ICD10:D59.6 Unspecified -Orphanet:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref UMLS:C0272129 Unspecified -Orphanet:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref UMLS:C0086774 Unspecified -Orphanet:90035 Paroxysmal cold hemoglobinuria skos:exactMatch UMLS:C0086774 Unspecified -Orphanet:90035 Paroxysmal cold hemoglobinuria skos:broadMatch ICD10:D59.6 Unspecified -Orphanet:90035 Paroxysmal cold hemoglobinuria skos:exactMatch UMLS:C0272129 Unspecified -Orphanet:90035 Paroxysmal cold hemoglobinuria skos:exactMatch MESH:C538618 Unspecified -Orphanet:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.0 Unspecified -Orphanet:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS:C0391817 Unspecified -Orphanet:90037 Drug-induced autoimmune hemolytic anemia skos:exactMatch UMLS:C0391817 Unspecified -Orphanet:90037 Drug-induced autoimmune hemolytic anemia skos:broadMatch ICD10:D59.0 Unspecified -Orphanet:90036 Mixed-type autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.1 Unspecified -Orphanet:90036 Mixed-type autoimmune hemolytic anemia skos:broadMatch ICD10:D59.1 Unspecified -Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref UMLS:C0272080 Unspecified -Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref ICD10:D58.2 Unspecified -Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref MedDRA:10055019 Unspecified -Orphanet:90039 Hemoglobin D disease skos:exactMatch MedDRA:10055019 Unspecified -Orphanet:90039 Hemoglobin D disease skos:exactMatch UMLS:C0272080 Unspecified -Orphanet:90039 Hemoglobin D disease skos:broadMatch ICD10:D58.2 Unspecified -Orphanet:412217 Dystonia-aphonia syndrome oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:412217 Dystonia-aphonia syndrome skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref MedDRA:10038270 Unspecified -Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref UMLS:C0002894 Unspecified -Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref ICD10:D46.2 Unspecified -Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref MESH:D000754 Unspecified -Orphanet:86839 Refractory anemia with excess blasts skos:exactMatch UMLS:C0002894 Unspecified -Orphanet:86839 Refractory anemia with excess blasts skos:exactMatch MESH:D000754 Unspecified -Orphanet:86839 Refractory anemia with excess blasts skos:exactMatch MedDRA:10038270 Unspecified -Orphanet:86839 Refractory anemia with excess blasts skos:broadMatch ICD10:D46.2 Unspecified -Orphanet:447774 Secondary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 Unspecified -Orphanet:447774 Secondary sclerosing cholangitis skos:broadMatch ICD10:K83.0 Unspecified -Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref ICD10:F72 Unspecified -Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref OMIM:300699 Unspecified -Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations skos:broadMatch ICD10:F72 Unspecified -Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations skos:exactMatch OMIM:300699 Unspecified -Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref OMIM:616094 Unspecified -Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch OMIM:616094 Unspecified -Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.3 Unspecified -Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref OMIM:607785 Unspecified -Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref MESH:D054429 Unspecified -Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0349639 Unspecified -Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref MedDRA:10023249 Unspecified -Orphanet:86834 Juvenile myelomonocytic leukemia skos:exactMatch ICD10:C93.3 Unspecified -Orphanet:86834 Juvenile myelomonocytic leukemia skos:exactMatch MESH:D054429 Unspecified -Orphanet:86834 Juvenile myelomonocytic leukemia skos:exactMatch OMIM:607785 Unspecified -Orphanet:86834 Juvenile myelomonocytic leukemia skos:exactMatch UMLS:C0349639 Unspecified -Orphanet:86834 Juvenile myelomonocytic leukemia skos:exactMatch MedDRA:10023249 Unspecified -Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:604364 Unspecified -Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref ICD10:G40.0 Unspecified -Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:617116 Unspecified -Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:617118 Unspecified -Orphanet:98820 Familial focal epilepsy with variable foci skos:narrowMatch OMIM:617118 Unspecified -Orphanet:98820 Familial focal epilepsy with variable foci skos:narrowMatch OMIM:617116 Unspecified -Orphanet:98820 Familial focal epilepsy with variable foci skos:broadMatch ICD10:G40.0 Unspecified -Orphanet:98820 Familial focal epilepsy with variable foci skos:narrowMatch OMIM:604364 Unspecified -Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:612933 Unspecified -Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:614128 Unspecified -Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E74.4 Unspecified -Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency skos:broadMatch ICD10:E74.4 Unspecified -Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency skos:narrowMatch OMIM:614128 Unspecified -Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency skos:narrowMatch OMIM:612933 Unspecified -Orphanet:447777 Keratocystic odontogenic tumor oboInOwl:hasDbXref ICD10:D16.4 Unspecified -Orphanet:447777 Keratocystic odontogenic tumor skos:broadMatch ICD10:D16.4 Unspecified -Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 Unspecified -Orphanet:98827 Unclassified myelodysplastic syndrome skos:broadMatch ICD10:D46.7 Unspecified -Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref ICD10:C92.5 Unspecified -Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:exactMatch ICD10:C92.5 Unspecified -Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref ICD10:C92.2 Unspecified -Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref MESH:D054438 Unspecified -Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref MedDRA:10054651 Unspecified -Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref UMLS:C0349640 Unspecified -Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref UMLS:C1292772 Unspecified -Orphanet:98824 Atypical chronic myeloid leukemia skos:exactMatch UMLS:C0349640 Unspecified -Orphanet:98824 Atypical chronic myeloid leukemia skos:exactMatch UMLS:C1292772 Unspecified -Orphanet:98824 Atypical chronic myeloid leukemia skos:exactMatch ICD10:C92.2 Unspecified -Orphanet:98824 Atypical chronic myeloid leukemia skos:exactMatch MESH:D054438 Unspecified -Orphanet:98824 Atypical chronic myeloid leukemia skos:exactMatch MedDRA:10054651 Unspecified -Orphanet:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0023480 Unspecified -Orphanet:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.1 Unspecified -Orphanet:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref MESH:D015477 Unspecified -Orphanet:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref MedDRA:10009018 Unspecified -Orphanet:98823 Chronic myelomonocytic leukemia skos:exactMatch MedDRA:10009018 Unspecified -Orphanet:98823 Chronic myelomonocytic leukemia skos:exactMatch MESH:D015477 Unspecified -Orphanet:98823 Chronic myelomonocytic leukemia skos:exactMatch UMLS:C0023480 Unspecified -Orphanet:98823 Chronic myelomonocytic leukemia skos:exactMatch ICD10:C93.1 Unspecified -Orphanet:98826 Refractory anemia oboInOwl:hasDbXref MedDRA:10038269 Unspecified -Orphanet:98826 Refractory anemia oboInOwl:hasDbXref UMLS:C0002893 Unspecified -Orphanet:98826 Refractory anemia oboInOwl:hasDbXref ICD10:D46.7 Unspecified -Orphanet:98826 Refractory anemia oboInOwl:hasDbXref MESH:D000753 Unspecified -Orphanet:98826 Refractory anemia skos:broadMatch ICD10:D46.7 Unspecified -Orphanet:98826 Refractory anemia skos:exactMatch UMLS:C0002893 Unspecified -Orphanet:98826 Refractory anemia skos:exactMatch MedDRA:10038269 Unspecified -Orphanet:98826 Refractory anemia skos:exactMatch MESH:D000753 Unspecified -Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations oboInOwl:hasDbXref OMIM:605724 Unspecified -Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations oboInOwl:hasDbXref ICD10:D61.0 Unspecified -Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations skos:broadMatch ICD10:D61.0 Unspecified -Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations skos:exactMatch OMIM:605724 Unspecified -Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref ICD10:C94.6 Unspecified -Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease skos:exactMatch ICD10:C94.6 Unspecified -Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref UMLS:C0343055 Unspecified -Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref OMIM:616106 Unspecified -Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref ICD10:L40.1 Unspecified -Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref OMIM:614204 Unspecified -Orphanet:247353 Generalized pustular psoriasis skos:broadMatch OMIM:614204 Unspecified -Orphanet:247353 Generalized pustular psoriasis skos:exactMatch ICD10:L40.1 Unspecified -Orphanet:247353 Generalized pustular psoriasis skos:narrowMatch OMIM:616106 Unspecified -Orphanet:247353 Generalized pustular psoriasis skos:exactMatch UMLS:C0343055 Unspecified -Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref OMIM:131440 Unspecified -Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref ICD10:D47.1 Unspecified -Orphanet:86830 Chronic myeloproliferative disease, unclassifiable skos:narrowMatch OMIM:131440 Unspecified -Orphanet:86830 Chronic myeloproliferative disease, unclassifiable skos:broadMatch ICD10:D47.1 Unspecified -Orphanet:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref ICD10:E74.4 Unspecified -Orphanet:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref OMIM:614741 Unspecified -Orphanet:447784 Mitochondrial pyruvate carrier deficiency skos:broadMatch ICD10:E74.4 Unspecified -Orphanet:447784 Mitochondrial pyruvate carrier deficiency skos:exactMatch OMIM:614741 Unspecified -Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref ICD10:C83.3 Unspecified -Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system skos:broadMatch ICD10:C83.3 Unspecified -Orphanet:86849 Acute basophilic leukemia oboInOwl:hasDbXref ICD10:C94.7 Unspecified -Orphanet:86849 Acute basophilic leukemia oboInOwl:hasDbXref UMLS:C0023437 Unspecified -Orphanet:86849 Acute basophilic leukemia oboInOwl:hasDbXref MESH:D015471 Unspecified -Orphanet:86849 Acute basophilic leukemia skos:broadMatch ICD10:C94.7 Unspecified -Orphanet:86849 Acute basophilic leukemia skos:exactMatch UMLS:C0023437 Unspecified -Orphanet:86849 Acute basophilic leukemia skos:exactMatch MESH:D015471 Unspecified -Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref OMIM:602111 Unspecified -Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref UMLS:C0432226 Unspecified -Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref OMIM:613073 Unspecified -Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref ICD10:Q78.5 Unspecified -Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref MESH:C537351 Unspecified -Orphanet:1040 Metaphyseal anadysplasia skos:narrowMatch OMIM:613073 Unspecified -Orphanet:1040 Metaphyseal anadysplasia skos:broadMatch ICD10:Q78.5 Unspecified -Orphanet:1040 Metaphyseal anadysplasia skos:exactMatch UMLS:C0432226 Unspecified -Orphanet:1040 Metaphyseal anadysplasia skos:broadMatch OMIM:602111 Unspecified -Orphanet:1040 Metaphyseal anadysplasia skos:exactMatch MESH:C537351 Unspecified -Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref ICD10:C92.8 Unspecified -Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref UMLS:C1292773 Unspecified -Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref OMIM:601626 Unspecified -Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features skos:exactMatch ICD10:C92.8 Unspecified -Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features skos:exactMatch UMLS:C1292773 Unspecified -Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features skos:broadMatch OMIM:601626 Unspecified -Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:311510 Unspecified -Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796195 Unspecified -Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G20 Unspecified -Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome skos:broadMatch ICD10:G20 Unspecified -Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome skos:exactMatch OMIM:311510 Unspecified -Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome skos:exactMatch UMLS:C0796195 Unspecified -Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref OMIM:612126 Unspecified -Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref UMLS:C1842534 Unspecified -Orphanet:98811 Paroxysmal exertion-induced dyskinesia skos:exactMatch UMLS:C1842534 Unspecified -Orphanet:98811 Paroxysmal exertion-induced dyskinesia skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:98811 Paroxysmal exertion-induced dyskinesia skos:exactMatch OMIM:612126 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref UMLS:C1869117 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref MESH:C537181 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref MedDRA:10065657 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:611147 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:118800 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref MedDRA:10065658 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia skos:exactMatch MedDRA:10065658 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia skos:exactMatch OMIM:118800 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia skos:exactMatch MedDRA:10065657 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia skos:exactMatch MESH:C537181 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia skos:narrowMatch OMIM:611147 Unspecified -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia skos:exactMatch UMLS:C1869117 Unspecified -Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:608096 Unspecified -Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref MESH:C536956 Unspecified -Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.2 Unspecified -Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:611631 Unspecified -Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref UMLS:C1842564 Unspecified -Orphanet:98819 Familial temporal lobe epilepsy skos:exactMatch UMLS:C1842564 Unspecified -Orphanet:98819 Familial temporal lobe epilepsy skos:broadMatch ICD10:G40.2 Unspecified -Orphanet:98819 Familial temporal lobe epilepsy skos:exactMatch MESH:C536956 Unspecified -Orphanet:98819 Familial temporal lobe epilepsy skos:narrowMatch OMIM:611631 Unspecified -Orphanet:98819 Familial temporal lobe epilepsy skos:exactMatch OMIM:608096 Unspecified -Orphanet:93126 Pauci-immune glomerulonephritis oboInOwl:hasDbXref ICD10:N05.7 Unspecified -Orphanet:93126 Pauci-immune glomerulonephritis skos:broadMatch ICD10:N05.7 Unspecified -Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref OMIM:245570 Unspecified -Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref MedDRA:10052075 Unspecified -Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref MESH:D018887 Unspecified -Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref ICD10:F80.3 Unspecified -Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref UMLS:C0282512 Unspecified -Orphanet:98818 Landau-Kleffner syndrome skos:exactMatch ICD10:F80.3 Unspecified -Orphanet:98818 Landau-Kleffner syndrome skos:exactMatch UMLS:C0282512 Unspecified -Orphanet:98818 Landau-Kleffner syndrome skos:broadMatch OMIM:245570 Unspecified -Orphanet:98818 Landau-Kleffner syndrome skos:exactMatch MESH:D018887 Unspecified -Orphanet:98818 Landau-Kleffner syndrome skos:exactMatch MedDRA:10052075 Unspecified -Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref OMIM:612132 Unspecified -Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 Unspecified -Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref OMIM:300291 Unspecified -Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref UMLS:C1846006 Unspecified -Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency skos:broadMatch ICD10:D82.8 Unspecified -Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency skos:narrowMatch OMIM:612132 Unspecified -Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch OMIM:300291 Unspecified -Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch UMLS:C1846006 Unspecified -Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome oboInOwl:hasDbXref OMIM:617093 Unspecified -Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome oboInOwl:hasDbXref ICD10:F78.8 Unspecified -Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome skos:exactMatch OMIM:617093 Unspecified -Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome skos:broadMatch ICD10:F78.8 Unspecified -Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref UMLS:C0334674 Unspecified -Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref ICD10:C94.4 Unspecified -Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref MedDRA:10000879 Unspecified -Orphanet:86843 Acute panmyelosis with myelofibrosis skos:exactMatch MedDRA:10000879 Unspecified -Orphanet:86843 Acute panmyelosis with myelofibrosis skos:exactMatch ICD10:C94.4 Unspecified -Orphanet:86843 Acute panmyelosis with myelofibrosis skos:exactMatch UMLS:C0334674 Unspecified -Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref UMLS:C0740302 Unspecified -Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref ICD10:D46.7 Unspecified -Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref OMIM:153550 Unspecified -Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref UMLS:C1292779 Unspecified -Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality skos:exactMatch UMLS:C1292779 Unspecified -Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality skos:exactMatch OMIM:153550 Unspecified -Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality skos:broadMatch ICD10:D46.7 Unspecified -Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality skos:exactMatch UMLS:C0740302 Unspecified -Orphanet:478029 Combined oxidative phosphorylation defect type 29 oboInOwl:hasDbXref OMIM:616811 Unspecified -Orphanet:478029 Combined oxidative phosphorylation defect type 29 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:478029 Combined oxidative phosphorylation defect type 29 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:478029 Combined oxidative phosphorylation defect type 29 skos:exactMatch OMIM:616811 Unspecified -Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oboInOwl:hasDbXref OMIM:615707 Unspecified -Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch OMIM:615707 Unspecified -Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref OMIM:612631 Unspecified -Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref UMLS:C2675459 Unspecified -Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref ICD10:D55.3 Unspecified -Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency skos:exactMatch UMLS:C2675459 Unspecified -Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency skos:broadMatch ICD10:D55.3 Unspecified -Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency skos:exactMatch OMIM:612631 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref MESH:C535500 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:615369 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:616346 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref UMLS:C0238111 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref MedDRA:10048816 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:617113 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:618141 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome skos:narrowMatch OMIM:616346 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome skos:narrowMatch OMIM:615369 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome skos:exactMatch MedDRA:10048816 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome skos:narrowMatch OMIM:617113 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome skos:exactMatch UMLS:C0238111 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome skos:exactMatch MESH:C535500 Unspecified -Orphanet:2382 Lennox-Gastaut syndrome skos:narrowMatch OMIM:618141 Unspecified -Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref OMIM:300990 Unspecified -Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref OMIM:300194 Unspecified -Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref UMLS:C1846242 Unspecified -Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch UMLS:C1846242 Unspecified -Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch OMIM:300194 Unspecified -Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:broadMatch OMIM:300990 Unspecified -Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref OMIM:180920 Unspecified -Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD10:Q38.4 Unspecified -Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref UMLS:C0158667 Unspecified -Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD10:Q10.4 Unspecified -Orphanet:86815 Aplasia of lacrimal and salivary glands skos:exactMatch UMLS:C0158667 Unspecified -Orphanet:86815 Aplasia of lacrimal and salivary glands skos:exactMatch OMIM:180920 Unspecified -Orphanet:86816 Congenital analbuminemia oboInOwl:hasDbXref OMIM:616000 Unspecified -Orphanet:86816 Congenital analbuminemia oboInOwl:hasDbXref ICD10:R77.0 Unspecified -Orphanet:86816 Congenital analbuminemia skos:exactMatch OMIM:616000 Unspecified -Orphanet:86816 Congenital analbuminemia skos:broadMatch ICD10:R77.0 Unspecified -Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref ICD10:H31.2 Unspecified -Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref OMIM:108985 Unspecified -Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref UMLS:C1862382 Unspecified -Orphanet:86813 Helicoid peripapillary chorioretinal degeneration skos:exactMatch UMLS:C1862382 Unspecified -Orphanet:86813 Helicoid peripapillary chorioretinal degeneration skos:broadMatch ICD10:H31.2 Unspecified -Orphanet:86813 Helicoid peripapillary chorioretinal degeneration skos:exactMatch OMIM:108985 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:601068 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:607876 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:615400 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:615127 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:613608 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:615127 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:613608 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:615400 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:607876 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:86814 Benign adult familial myoclonic epilepsy skos:exactMatch OMIM:601068 Unspecified -Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 Unspecified -Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref UMLS:C1321547 Unspecified -Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma skos:exactMatch UMLS:C1321547 Unspecified -Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma skos:broadMatch ICD10:C83.3 Unspecified -Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref OMIM:609308 Unspecified -Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref UMLS:C1836373 Unspecified -Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 skos:exactMatch OMIM:609308 Unspecified -Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 skos:exactMatch UMLS:C1836373 Unspecified -Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref ICD10:M91.1 Unspecified -Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref OMIM:150600 Unspecified -Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref UMLS:C0023234 Unspecified -Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref MedDRA:10034735 Unspecified -Orphanet:2380 Legg-Calvé-Perthes disease skos:exactMatch UMLS:C0023234 Unspecified -Orphanet:2380 Legg-Calvé-Perthes disease skos:exactMatch MedDRA:10034735 Unspecified -Orphanet:2380 Legg-Calvé-Perthes disease skos:exactMatch OMIM:150600 Unspecified -Orphanet:2380 Legg-Calvé-Perthes disease skos:exactMatch ICD10:M91.1 Unspecified -Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref OMIM:619065 Unspecified -Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref OMIM:220111 Unspecified -Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref UMLS:C1857355 Unspecified -Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:narrowMatch OMIM:220111 Unspecified -Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch UMLS:C1857355 Unspecified -Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:narrowMatch OMIM:619065 Unspecified -Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref ICD10:K62.7 Unspecified -Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref MedDRA:10037766 Unspecified -Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref UMLS:C0400827 Unspecified -Orphanet:70475 Radiation proctitis skos:exactMatch UMLS:C0400827 Unspecified -Orphanet:70475 Radiation proctitis skos:exactMatch ICD10:K62.7 Unspecified -Orphanet:70475 Radiation proctitis skos:exactMatch MedDRA:10037766 Unspecified -Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:618252 Unspecified -Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:256000 Unspecified -Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:618228 Unspecified -Orphanet:70474 Leigh syndrome with cardiomyopathy skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:70474 Leigh syndrome with cardiomyopathy skos:narrowMatch OMIM:618252 Unspecified -Orphanet:70474 Leigh syndrome with cardiomyopathy skos:broadMatch OMIM:256000 Unspecified -Orphanet:70474 Leigh syndrome with cardiomyopathy skos:narrowMatch OMIM:618228 Unspecified -Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref OMIM:209500 Unspecified -Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref ICD10:L65.8 Unspecified -Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref UMLS:C1859592 Unspecified -Orphanet:86819 Atrichia with papular lesions skos:broadMatch ICD10:L65.8 Unspecified -Orphanet:86819 Atrichia with papular lesions skos:exactMatch UMLS:C1859592 Unspecified -Orphanet:86819 Atrichia with papular lesions skos:exactMatch OMIM:209500 Unspecified -Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref ICD10:Q84.4 Unspecified -Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref MESH:C535889 Unspecified -Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref OMIM:151600 Unspecified -Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref UMLS:C0544855 Unspecified -Orphanet:2387 Leukonychia totalis skos:broadMatch ICD10:Q84.4 Unspecified -Orphanet:2387 Leukonychia totalis skos:exactMatch UMLS:C0544855 Unspecified -Orphanet:2387 Leukonychia totalis skos:exactMatch MESH:C535889 Unspecified -Orphanet:2387 Leukonychia totalis skos:broadMatch OMIM:151600 Unspecified -Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref OMIM:200150 Unspecified -Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref UMLS:C0393576 Unspecified -Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref ICD10:E78.6 Unspecified -Orphanet:2388 Choreoacanthocytosis skos:broadMatch ICD10:E78.6 Unspecified -Orphanet:2388 Choreoacanthocytosis skos:exactMatch UMLS:C0393576 Unspecified -Orphanet:2388 Choreoacanthocytosis skos:exactMatch OMIM:200150 Unspecified -Orphanet:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref OMIM:602629 Unspecified -Orphanet:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref UMLS:C1414216 Unspecified -Orphanet:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:98806 Primary dystonia, DYT6 type skos:exactMatch UMLS:C1414216 Unspecified -Orphanet:98806 Primary dystonia, DYT6 type skos:exactMatch OMIM:602629 Unspecified -Orphanet:98806 Primary dystonia, DYT6 type skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref OMIM:128101 Unspecified -Orphanet:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref UMLS:C1851943 Unspecified -Orphanet:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref UMLS:C1860315 Unspecified -Orphanet:98805 Primary dystonia, DYT4 type skos:exactMatch UMLS:C1860315 Unspecified -Orphanet:98805 Primary dystonia, DYT4 type skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:98805 Primary dystonia, DYT4 type skos:exactMatch OMIM:128101 Unspecified -Orphanet:98805 Primary dystonia, DYT4 type skos:exactMatch UMLS:C1851943 Unspecified -Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations oboInOwl:hasDbXref OMIM:601626 Unspecified -Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations skos:broadMatch OMIM:601626 Unspecified -Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref OMIM:128230 Unspecified -Orphanet:98808 Autosomal dominant dopa-responsive dystonia skos:exactMatch OMIM:128230 Unspecified -Orphanet:98808 Autosomal dominant dopa-responsive dystonia skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:353344 Idiopathic macular telangiectasia type 1 oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:353344 Idiopathic macular telangiectasia type 1 skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref OMIM:614455 Unspecified -Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E skos:exactMatch OMIM:614455 Unspecified -Orphanet:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref UMLS:C1843264 Unspecified -Orphanet:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref OMIM:607671 Unspecified -Orphanet:98807 Primary dystonia, DYT13 type skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:98807 Primary dystonia, DYT13 type skos:exactMatch OMIM:607671 Unspecified -Orphanet:98807 Primary dystonia, DYT13 type skos:exactMatch UMLS:C1843264 Unspecified -Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene oboInOwl:hasDbXref ICD10:D75.1 Unspecified -Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene skos:broadMatch ICD10:D75.1 Unspecified -Orphanet:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref UMLS:C0022577 Unspecified -Orphanet:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 Unspecified -Orphanet:70476 Vernal keratoconjunctivitis skos:broadMatch ICD10:H16.2 Unspecified -Orphanet:70476 Vernal keratoconjunctivitis skos:exactMatch UMLS:C0022577 Unspecified -Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref UMLS:C1868682 Unspecified -Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:128200 Unspecified -Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:611031 Unspecified -Orphanet:98809 Paroxysmal kinesigenic dyskinesia skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:98809 Paroxysmal kinesigenic dyskinesia skos:exactMatch UMLS:C1868682 Unspecified -Orphanet:98809 Paroxysmal kinesigenic dyskinesia skos:exactMatch OMIM:128200 Unspecified -Orphanet:98809 Paroxysmal kinesigenic dyskinesia skos:narrowMatch OMIM:611031 Unspecified -Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles oboInOwl:hasDbXref OMIM:613102 Unspecified -Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch OMIM:613102 Unspecified -Orphanet:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref UMLS:C0023481 Unspecified -Orphanet:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref MESH:D015467 Unspecified -Orphanet:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref ICD10:D47.1 Unspecified -Orphanet:86829 Chronic neutrophilic leukemia skos:exactMatch UMLS:C0023481 Unspecified -Orphanet:86829 Chronic neutrophilic leukemia skos:exactMatch MESH:D015467 Unspecified -Orphanet:86829 Chronic neutrophilic leukemia skos:broadMatch ICD10:D47.1 Unspecified -Orphanet:530792 RELA fusion-positive ependymoma oboInOwl:hasDbXref ICD10:C71.0 Unspecified -Orphanet:530792 RELA fusion-positive ependymoma skos:broadMatch ICD10:C71.0 Unspecified -Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 Unspecified -Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma skos:broadMatch ICD10:C83.0 Unspecified -Orphanet:1063 Tufted angioma oboInOwl:hasDbXref OMIM:607859 Unspecified -Orphanet:1063 Tufted angioma oboInOwl:hasDbXref MESH:C536924 Unspecified -Orphanet:1063 Tufted angioma oboInOwl:hasDbXref UMLS:C0346073 Unspecified -Orphanet:1063 Tufted angioma oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:1063 Tufted angioma skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:1063 Tufted angioma skos:exactMatch UMLS:C0346073 Unspecified -Orphanet:1063 Tufted angioma skos:exactMatch MESH:C536924 Unspecified -Orphanet:1063 Tufted angioma skos:exactMatch OMIM:607859 Unspecified -Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref MESH:C536364 Unspecified -Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref UMLS:C1275084 Unspecified -Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref OMIM:106070 Unspecified -Orphanet:1062 Hereditary neurocutaneous malformation skos:exactMatch OMIM:106070 Unspecified -Orphanet:1062 Hereditary neurocutaneous malformation skos:exactMatch UMLS:C1275084 Unspecified -Orphanet:1062 Hereditary neurocutaneous malformation skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:1062 Hereditary neurocutaneous malformation skos:exactMatch MESH:C536364 Unspecified -Orphanet:2390 Lichtenstein syndrome oboInOwl:hasDbXref ICD10:D70 Unspecified -Orphanet:2390 Lichtenstein syndrome oboInOwl:hasDbXref UMLS:C1855502 Unspecified -Orphanet:2390 Lichtenstein syndrome oboInOwl:hasDbXref OMIM:246550 Unspecified -Orphanet:2390 Lichtenstein syndrome skos:exactMatch UMLS:C1855502 Unspecified -Orphanet:2390 Lichtenstein syndrome skos:exactMatch OMIM:246550 Unspecified -Orphanet:2390 Lichtenstein syndrome skos:broadMatch ICD10:D70 Unspecified -Orphanet:225123 Hemochromatosis type 3 oboInOwl:hasDbXref MESH:C537248 Unspecified -Orphanet:225123 Hemochromatosis type 3 oboInOwl:hasDbXref OMIM:604250 Unspecified -Orphanet:225123 Hemochromatosis type 3 oboInOwl:hasDbXref UMLS:C1858664 Unspecified -Orphanet:225123 Hemochromatosis type 3 oboInOwl:hasDbXref ICD10:E83.1 Unspecified -Orphanet:225123 Hemochromatosis type 3 skos:exactMatch OMIM:604250 Unspecified -Orphanet:225123 Hemochromatosis type 3 skos:exactMatch MESH:C537248 Unspecified -Orphanet:225123 Hemochromatosis type 3 skos:broadMatch ICD10:E83.1 Unspecified -Orphanet:225123 Hemochromatosis type 3 skos:exactMatch UMLS:C1858664 Unspecified -Orphanet:319465 Inherited acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 Unspecified -Orphanet:319465 Inherited acute myeloid leukemia oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:319465 Inherited acute myeloid leukemia skos:broadMatch OMIM:601626 Unspecified -Orphanet:319465 Inherited acute myeloid leukemia skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref UMLS:C0406612 Unspecified -Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref OMIM:613001 Unspecified -Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref MESH:C535736 Unspecified -Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref ICD10:E88.2 Unspecified -Orphanet:2396 Encephalocraniocutaneous lipomatosis skos:broadMatch ICD10:E88.2 Unspecified -Orphanet:2396 Encephalocraniocutaneous lipomatosis skos:exactMatch OMIM:613001 Unspecified -Orphanet:2396 Encephalocraniocutaneous lipomatosis skos:exactMatch UMLS:C0406612 Unspecified -Orphanet:2396 Encephalocraniocutaneous lipomatosis skos:exactMatch MESH:C535736 Unspecified -Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS:C0024445 Unspecified -Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref OMIM:151800 Unspecified -Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS:C2931642 Unspecified -Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS:C0023804 Unspecified -Orphanet:2398 Multiple symmetric lipomatosis skos:exactMatch OMIM:151800 Unspecified -Orphanet:2398 Multiple symmetric lipomatosis skos:exactMatch UMLS:C0023804 Unspecified -Orphanet:2398 Multiple symmetric lipomatosis skos:exactMatch UMLS:C0024445 Unspecified -Orphanet:2398 Multiple symmetric lipomatosis skos:exactMatch UMLS:C2931642 Unspecified -Orphanet:2398 Multiple symmetric lipomatosis skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:478042 Combined oxidative phosphorylation defect type 30 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:478042 Combined oxidative phosphorylation defect type 30 oboInOwl:hasDbXref OMIM:616974 Unspecified -Orphanet:478042 Combined oxidative phosphorylation defect type 30 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:478042 Combined oxidative phosphorylation defect type 30 skos:exactMatch OMIM:616974 Unspecified -Orphanet:353356 Vasoproliferative tumor of the retina oboInOwl:hasDbXref ICD10:D31.2 Unspecified -Orphanet:353356 Vasoproliferative tumor of the retina skos:broadMatch ICD10:D31.2 Unspecified -Orphanet:353351 Idiopathic macular telangiectasia type 3 oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:353351 Idiopathic macular telangiectasia type 3 skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C1698767 Unspecified -Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C1301362 Unspecified -Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C86.6 Unspecified -Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref MedDRA:10065863 Unspecified -Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma skos:broadMatch ICD10:C86.6 Unspecified -Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma skos:exactMatch UMLS:C1698767 Unspecified -Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma skos:exactMatch MedDRA:10065863 Unspecified -Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma skos:exactMatch UMLS:C1301362 Unspecified -Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref OMIM:617383 Unspecified -Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref OMIM:608805 Unspecified -Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref ICD10:M87.8 Unspecified -Orphanet:86820 Familial avascular necrosis of femoral head skos:exactMatch OMIM:608805 Unspecified -Orphanet:86820 Familial avascular necrosis of femoral head skos:exactMatch OMIM:617383 Unspecified -Orphanet:86820 Familial avascular necrosis of femoral head skos:broadMatch ICD10:M87.8 Unspecified -Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome oboInOwl:hasDbXref OMIM:617228 Unspecified -Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:exactMatch OMIM:617228 Unspecified -Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:488280 14q32 duplication syndrome oboInOwl:hasDbXref ICD10:D47.1 Unspecified -Orphanet:488280 14q32 duplication syndrome oboInOwl:hasDbXref OMIM:616604 Unspecified -Orphanet:488280 14q32 duplication syndrome skos:broadMatch ICD10:D47.1 Unspecified -Orphanet:488280 14q32 duplication syndrome skos:exactMatch OMIM:616604 Unspecified -Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K59.8 Unspecified -Orphanet:563708 Syndromic congenital sodium diarrhea skos:broadMatch ICD10:K59.8 Unspecified -Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref ICD10:B17.0 Unspecified -Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref UMLS:C0011226 Unspecified -Orphanet:402823 Hepatitis delta skos:exactMatch UMLS:C0011226 Unspecified -Orphanet:402823 Hepatitis delta skos:exactMatch ICD10:B17.0 Unspecified -Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref UMLS:C0018197 Unspecified -Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref ICD10:C86.0 Unspecified -Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref MESH:D054391 Unspecified -Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref UMLS:C0392788 Unspecified -Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref MedDRA:10065855 Unspecified -Orphanet:86879 Extranodal nasal NK/T cell lymphoma skos:exactMatch MedDRA:10065855 Unspecified -Orphanet:86879 Extranodal nasal NK/T cell lymphoma skos:exactMatch UMLS:C0392788 Unspecified -Orphanet:86879 Extranodal nasal NK/T cell lymphoma skos:exactMatch MESH:D054391 Unspecified -Orphanet:86879 Extranodal nasal NK/T cell lymphoma skos:exactMatch UMLS:C0018197 Unspecified -Orphanet:86879 Extranodal nasal NK/T cell lymphoma skos:exactMatch ICD10:C86.0 Unspecified -Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref UMLS:C0311338 Unspecified -Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref OMIM:136880 Unspecified -Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:227796 Fundus albipunctatus skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:227796 Fundus albipunctatus skos:exactMatch OMIM:136880 Unspecified -Orphanet:227796 Fundus albipunctatus skos:exactMatch UMLS:C0311338 Unspecified -Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome oboInOwl:hasDbXref OMIM:602499 Unspecified -Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome skos:exactMatch OMIM:602499 Unspecified -Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref ICD10:Q78.8 Unspecified -Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref ICD10:G71.1 Unspecified -Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref UMLS:C0036391 Unspecified -Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref OMIM:255800 Unspecified -Orphanet:800 Schwartz-Jampel syndrome skos:exactMatch UMLS:C0036391 Unspecified -Orphanet:800 Schwartz-Jampel syndrome skos:broadMatch ICD10:G71.1 Unspecified -Orphanet:800 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 Unspecified -Orphanet:800 Schwartz-Jampel syndrome skos:broadMatch ICD10:Q78.8 Unspecified -Orphanet:468678 White-Sutton syndrome oboInOwl:hasDbXref OMIM:616364 Unspecified -Orphanet:468678 White-Sutton syndrome skos:exactMatch OMIM:616364 Unspecified -Orphanet:447737 DOCK2 deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:447737 DOCK2 deficiency oboInOwl:hasDbXref OMIM:616433 Unspecified -Orphanet:447737 DOCK2 deficiency skos:exactMatch OMIM:616433 Unspecified -Orphanet:447737 DOCK2 deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:447731 NIK deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:447731 NIK deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:163924 Non-herpetic acute limbic encephalitis oboInOwl:hasDbXref ICD10:G04.8 Unspecified -Orphanet:163924 Non-herpetic acute limbic encephalitis skos:broadMatch ICD10:G04.8 Unspecified -Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref OMIM:611556 Unspecified -Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch OMIM:611556 Unspecified -Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref ICD10:D58.1 Unspecified -Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref OMIM:166900 Unspecified -Orphanet:98868 Southeast Asian ovalocytosis skos:exactMatch OMIM:166900 Unspecified -Orphanet:98868 Southeast Asian ovalocytosis skos:broadMatch ICD10:D58.1 Unspecified -Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref OMIM:615631 Unspecified -Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref ICD10:D64.4 Unspecified -Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref OMIM:224120 Unspecified -Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref UMLS:C0271933 Unspecified -Orphanet:98869 Congenital dyserythropoietic anemia type I skos:exactMatch OMIM:224120 Unspecified -Orphanet:98869 Congenital dyserythropoietic anemia type I skos:exactMatch UMLS:C0271933 Unspecified -Orphanet:98869 Congenital dyserythropoietic anemia type I skos:narrowMatch OMIM:615631 Unspecified -Orphanet:98869 Congenital dyserythropoietic anemia type I skos:broadMatch ICD10:D64.4 Unspecified -Orphanet:411777 Generalized eruptive keratoacanthoma oboInOwl:hasDbXref ICD10:L85.8 Unspecified -Orphanet:411777 Generalized eruptive keratoacanthoma skos:broadMatch ICD10:L85.8 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:205250 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:611895 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:613954 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:606640 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:612577 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref UMLS:C0002736 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:612069 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:105400 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:615426 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:617839 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:619141 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref MESH:D000690 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:608031 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:613435 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref MedDRA:10002026 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:615515 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:606070 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:616437 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:600795 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:616208 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:608627 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:300857 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:619133 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:617892 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:608030 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:614808 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:300857 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:614808 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:617892 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:616437 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:600795 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:616208 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:619133 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:608627 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:608030 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:615515 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:606070 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:exactMatch MedDRA:10002026 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:613435 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:606640 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:613954 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:612069 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:619141 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:615426 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:617839 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:205250 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:612577 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:exactMatch UMLS:C0002736 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:608031 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:exactMatch OMIM:105400 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:611895 Unspecified -Orphanet:803 Amyotrophic lateral sclerosis skos:exactMatch MESH:D000690 Unspecified -Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref MESH:D015459 Unspecified -Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref ICD10:C91.5 Unspecified -Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref UMLS:C0023493 Unspecified -Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref MedDRA:10001413 Unspecified -Orphanet:86875 Adult T-cell leukemia/lymphoma skos:exactMatch UMLS:C0023493 Unspecified -Orphanet:86875 Adult T-cell leukemia/lymphoma skos:broadMatch ICD10:C91.5 Unspecified -Orphanet:86875 Adult T-cell leukemia/lymphoma skos:exactMatch MedDRA:10001413 Unspecified -Orphanet:86875 Adult T-cell leukemia/lymphoma skos:exactMatch MESH:D015459 Unspecified -Orphanet:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref ICD10:L40.3 Unspecified -Orphanet:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref MedDRA:10050185 Unspecified -Orphanet:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref UMLS:C0030246 Unspecified -Orphanet:163927 Pustulosis palmaris et plantaris skos:exactMatch MedDRA:10050185 Unspecified -Orphanet:163927 Pustulosis palmaris et plantaris skos:exactMatch UMLS:C0030246 Unspecified -Orphanet:163927 Pustulosis palmaris et plantaris skos:exactMatch ICD10:L40.3 Unspecified -Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref UMLS:C0041341 Unspecified -Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref MedDRA:10045138 Unspecified -Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref OMIM:613254 Unspecified -Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref MESH:D014402 Unspecified -Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref OMIM:191100 Unspecified -Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref ICD10:Q85.1 Unspecified -Orphanet:805 Tuberous sclerosis complex skos:exactMatch ICD10:Q85.1 Unspecified -Orphanet:805 Tuberous sclerosis complex skos:narrowMatch OMIM:191100 Unspecified -Orphanet:805 Tuberous sclerosis complex skos:exactMatch MESH:D014402 Unspecified -Orphanet:805 Tuberous sclerosis complex skos:exactMatch UMLS:C0041341 Unspecified -Orphanet:805 Tuberous sclerosis complex skos:narrowMatch OMIM:613254 Unspecified -Orphanet:805 Tuberous sclerosis complex skos:exactMatch MedDRA:10045138 Unspecified -Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref UMLS:C1292777 Unspecified -Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref ICD10:C94.7 Unspecified -Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref UMLS:C1522378 Unspecified -Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref MedDRA:10028811 Unspecified -Orphanet:86873 Aggressive NK-cell leukemia skos:broadMatch ICD10:C94.7 Unspecified -Orphanet:86873 Aggressive NK-cell leukemia skos:exactMatch UMLS:C1292777 Unspecified -Orphanet:86873 Aggressive NK-cell leukemia skos:exactMatch UMLS:C1522378 Unspecified -Orphanet:86873 Aggressive NK-cell leukemia skos:exactMatch MedDRA:10028811 Unspecified -Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref MESH:D015461 Unspecified -Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref MedDRA:10042985 Unspecified -Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.6 Unspecified -Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref UMLS:C0023494 Unspecified -Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref UMLS:C2363142 Unspecified -Orphanet:86871 T-cell prolymphocytic leukemia skos:exactMatch ICD10:C91.6 Unspecified -Orphanet:86871 T-cell prolymphocytic leukemia skos:exactMatch MESH:D015461 Unspecified -Orphanet:86871 T-cell prolymphocytic leukemia skos:exactMatch MedDRA:10042985 Unspecified -Orphanet:86871 T-cell prolymphocytic leukemia skos:exactMatch UMLS:C0023494 Unspecified -Orphanet:86871 T-cell prolymphocytic leukemia skos:exactMatch UMLS:C2363142 Unspecified -Orphanet:806 Scott syndrome oboInOwl:hasDbXref ICD10:D69.8 Unspecified -Orphanet:806 Scott syndrome oboInOwl:hasDbXref UMLS:C0796149 Unspecified -Orphanet:806 Scott syndrome oboInOwl:hasDbXref OMIM:262890 Unspecified -Orphanet:806 Scott syndrome skos:broadMatch ICD10:D69.8 Unspecified -Orphanet:806 Scott syndrome skos:exactMatch OMIM:262890 Unspecified -Orphanet:806 Scott syndrome skos:exactMatch UMLS:C0796149 Unspecified -Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref MedDRA:10065862 Unspecified -Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref UMLS:C1955861 Unspecified -Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref UMLS:C2930809 Unspecified -Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref ICD10:C91.7 Unspecified -Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref MESH:D054066 Unspecified -Orphanet:86872 T-cell large granular lymphocyte leukemia skos:exactMatch MESH:D054066 Unspecified -Orphanet:86872 T-cell large granular lymphocyte leukemia skos:broadMatch ICD10:C91.7 Unspecified -Orphanet:86872 T-cell large granular lymphocyte leukemia skos:exactMatch UMLS:C2930809 Unspecified -Orphanet:86872 T-cell large granular lymphocyte leukemia skos:exactMatch UMLS:C1955861 Unspecified -Orphanet:86872 T-cell large granular lymphocyte leukemia skos:exactMatch MedDRA:10065862 Unspecified -Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref MESH:D008947 Unspecified -Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref ICD10:M35.1 Unspecified -Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref MedDRA:10027754 Unspecified -Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref UMLS:C0026272 Unspecified -Orphanet:809 Mixed connective tissue disease skos:exactMatch ICD10:M35.1 Unspecified -Orphanet:809 Mixed connective tissue disease skos:exactMatch MESH:D008947 Unspecified -Orphanet:809 Mixed connective tissue disease skos:exactMatch UMLS:C0026272 Unspecified -Orphanet:809 Mixed connective tissue disease skos:exactMatch MedDRA:10027754 Unspecified -Orphanet:86870 CD4+/CD56+ hematodermic neoplasm oboInOwl:hasDbXref ICD10:C86.4 Unspecified -Orphanet:86870 CD4+/CD56+ hematodermic neoplasm skos:exactMatch ICD10:C86.4 Unspecified -Orphanet:447740 Susceptibility to localized juvenile periodontitis oboInOwl:hasDbXref ICD10:D71 Unspecified -Orphanet:447740 Susceptibility to localized juvenile periodontitis skos:broadMatch ICD10:D71 Unspecified -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref ICD10:E83.3 Unspecified -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:619073 Unspecified -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:277440 Unspecified -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:600785 Unspecified -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref UMLS:C3536983 Unspecified -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets skos:narrowMatch OMIM:600785 Unspecified -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets skos:narrowMatch OMIM:277440 Unspecified -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets skos:exactMatch UMLS:C3536983 Unspecified -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets skos:broadMatch ICD10:E83.3 Unspecified -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets skos:narrowMatch OMIM:619073 Unspecified -Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref OMIM:603585 Unspecified -Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref UMLS:C1970344 Unspecified -Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:238459 SLC35A1-CDG skos:exactMatch UMLS:C1970344 Unspecified -Orphanet:238459 SLC35A1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:238459 SLC35A1-CDG skos:exactMatch OMIM:603585 Unspecified -Orphanet:468661 Autosomal recessive spastic paraplegia type 74 oboInOwl:hasDbXref OMIM:616451 Unspecified -Orphanet:468661 Autosomal recessive spastic paraplegia type 74 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:468661 Autosomal recessive spastic paraplegia type 74 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:468661 Autosomal recessive spastic paraplegia type 74 skos:exactMatch OMIM:616451 Unspecified -Orphanet:93164 Transient pseudohypoaldosteronism oboInOwl:hasDbXref ICD10:N15.8 Unspecified -Orphanet:93164 Transient pseudohypoaldosteronism skos:broadMatch ICD10:N15.8 Unspecified -Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref OMIM:613135 Unspecified -Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C2751067 Unspecified -Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:238455 Infantile dystonia-parkinsonism skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:238455 Infantile dystonia-parkinsonism skos:exactMatch UMLS:C2751067 Unspecified -Orphanet:238455 Infantile dystonia-parkinsonism skos:exactMatch OMIM:613135 Unspecified -Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref ICD10:D68.4 Unspecified -Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref UMLS:C0392610 Unspecified -Orphanet:26348 Acquired prothrombin deficiency skos:exactMatch UMLS:C0392610 Unspecified -Orphanet:26348 Acquired prothrombin deficiency skos:broadMatch ICD10:D68.4 Unspecified -Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 Unspecified -Orphanet:225147 Sporadic infantile bilateral striatal necrosis skos:broadMatch ICD10:G23.2 Unspecified -Orphanet:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 Unspecified -Orphanet:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref OMIM:263000 Unspecified -Orphanet:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref UMLS:C0238378 Unspecified -Orphanet:98852 Desquamative interstitial pneumonia skos:narrowMatch OMIM:263000 Unspecified -Orphanet:98852 Desquamative interstitial pneumonia skos:broadMatch ICD10:J84.1 Unspecified -Orphanet:98852 Desquamative interstitial pneumonia skos:exactMatch UMLS:C0238378 Unspecified -Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands oboInOwl:hasDbXref OMIM:106190 Unspecified -Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands skos:exactMatch OMIM:106190 Unspecified -Orphanet:26349 Protein S acquired deficiency oboInOwl:hasDbXref UMLS:C2363755 Unspecified -Orphanet:26349 Protein S acquired deficiency oboInOwl:hasDbXref ICD10:D68.8 Unspecified -Orphanet:26349 Protein S acquired deficiency oboInOwl:hasDbXref MedDRA:10068370 Unspecified -Orphanet:26349 Protein S acquired deficiency skos:broadMatch ICD10:D68.8 Unspecified -Orphanet:26349 Protein S acquired deficiency skos:exactMatch MedDRA:10068370 Unspecified -Orphanet:26349 Protein S acquired deficiency skos:exactMatch UMLS:C2363755 Unspecified -Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref UMLS:C0023461 Unspecified -Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 Unspecified -Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref MedDRA:10056450 Unspecified -Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref MESH:D007946 Unspecified -Orphanet:98851 Mast cell leukemia skos:exactMatch MESH:D007946 Unspecified -Orphanet:98851 Mast cell leukemia skos:exactMatch UMLS:C0023461 Unspecified -Orphanet:98851 Mast cell leukemia skos:exactMatch MedDRA:10056450 Unspecified -Orphanet:98851 Mast cell leukemia skos:exactMatch ICD10:C94.3 Unspecified -Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 Unspecified -Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref MedDRA:10056453 Unspecified -Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref UMLS:C1112486 Unspecified -Orphanet:98850 Aggressive systemic mastocytosis skos:exactMatch MedDRA:10056453 Unspecified -Orphanet:98850 Aggressive systemic mastocytosis skos:exactMatch UMLS:C1112486 Unspecified -Orphanet:98850 Aggressive systemic mastocytosis skos:broadMatch ICD10:C96.2 Unspecified -Orphanet:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref OMIM:614947 Unspecified -Orphanet:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:319524 Combined oxidative phosphorylation defect type 15 skos:exactMatch OMIM:614947 Unspecified -Orphanet:319524 Combined oxidative phosphorylation defect type 15 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:163931 Acrodermatitis continua of Hallopeau oboInOwl:hasDbXref ICD10:L40.2 Unspecified -Orphanet:163931 Acrodermatitis continua of Hallopeau skos:broadMatch ICD10:L40.2 Unspecified -Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref ICD10:D82.8 Unspecified -Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref OMIM:611926 Unspecified -Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:broadMatch ICD10:D82.8 Unspecified -Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch OMIM:611926 Unspecified -Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref MedDRA:10069664 Unspecified -Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref UMLS:C1274788 Unspecified -Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 Unspecified -Orphanet:163934 Atopic keratoconjunctivitis skos:broadMatch ICD10:H16.2 Unspecified -Orphanet:163934 Atopic keratoconjunctivitis skos:exactMatch UMLS:C1274788 Unspecified -Orphanet:163934 Atopic keratoconjunctivitis skos:exactMatch MedDRA:10069664 Unspecified -Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref OMIM:605588 Unspecified -Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref UMLS:C1854154 Unspecified -Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref MESH:C537990 Unspecified -Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch MESH:C537990 Unspecified -Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch UMLS:C1854154 Unspecified -Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch OMIM:605588 Unspecified -Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:411788 Familial isolated trichomegaly oboInOwl:hasDbXref OMIM:190330 Unspecified -Orphanet:411788 Familial isolated trichomegaly skos:broadMatch OMIM:190330 Unspecified -Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref MedDRA:10002449 Unspecified -Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.5 Unspecified -Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref UMLS:C0020981 Unspecified -Orphanet:86886 Angioimmunoblastic T-cell lymphoma skos:exactMatch UMLS:C0020981 Unspecified -Orphanet:86886 Angioimmunoblastic T-cell lymphoma skos:exactMatch ICD10:C86.5 Unspecified -Orphanet:86886 Angioimmunoblastic T-cell lymphoma skos:exactMatch MedDRA:10002449 Unspecified -Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617616 Unspecified -Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome skos:exactMatch OMIM:617616 Unspecified -Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref UMLS:C0393484 Unspecified -Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref MESH:C535291 Unspecified -Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref UMLS:C2930868 Unspecified -Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref ICD10:G04.8 Unspecified -Orphanet:1929 Rasmussen subacute encephalitis skos:exactMatch UMLS:C2930868 Unspecified -Orphanet:1929 Rasmussen subacute encephalitis skos:broadMatch ICD10:G04.8 Unspecified -Orphanet:1929 Rasmussen subacute encephalitis skos:exactMatch UMLS:C0393484 Unspecified -Orphanet:1929 Rasmussen subacute encephalitis skos:exactMatch MESH:C535291 Unspecified -Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref UMLS:C2677903 Unspecified -Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref ICD10:Q04.3 Unspecified -Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref OMIM:300749 Unspecified -Orphanet:163937 X-linked intellectual disability, Najm type skos:exactMatch OMIM:300749 Unspecified -Orphanet:163937 X-linked intellectual disability, Najm type skos:exactMatch UMLS:C2677903 Unspecified -Orphanet:163937 X-linked intellectual disability, Najm type skos:broadMatch ICD10:Q04.3 Unspecified -Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref ICD10:C83.6 Unspecified -Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref OMIM:618398 Unspecified -Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref UMLS:C0522624 Unspecified -Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref MESH:C537503 Unspecified -Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch UMLS:C0522624 Unspecified -Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch MESH:C537503 Unspecified -Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch OMIM:618398 Unspecified -Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch ICD10:C83.6 Unspecified -Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref ICD10:C84.4 Unspecified -Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref MedDRA:10034623 Unspecified -Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref MESH:D016411 Unspecified -Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref UMLS:C0079774 Unspecified -Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:exactMatch UMLS:C0079774 Unspecified -Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:exactMatch MedDRA:10034623 Unspecified -Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:exactMatch MESH:D016411 Unspecified -Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:broadMatch ICD10:C84.4 Unspecified -Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.1 Unspecified -Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref MedDRA:10066957 Unspecified -Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref UMLS:C1333984 Unspecified -Orphanet:86882 Hepatosplenic T-cell lymphoma skos:exactMatch MedDRA:10066957 Unspecified -Orphanet:86882 Hepatosplenic T-cell lymphoma skos:exactMatch UMLS:C1333984 Unspecified -Orphanet:86882 Hepatosplenic T-cell lymphoma skos:exactMatch ICD10:C86.1 Unspecified -Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref UMLS:C0456889 Unspecified -Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.2 Unspecified -Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref MESH:D058527 Unspecified -Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref MedDRA:10022703 Unspecified -Orphanet:86880 Enteropathy-associated T-cell lymphoma skos:exactMatch MESH:D058527 Unspecified -Orphanet:86880 Enteropathy-associated T-cell lymphoma skos:exactMatch MedDRA:10022703 Unspecified -Orphanet:86880 Enteropathy-associated T-cell lymphoma skos:exactMatch UMLS:C0456889 Unspecified -Orphanet:86880 Enteropathy-associated T-cell lymphoma skos:exactMatch ICD10:C86.2 Unspecified -Orphanet:821 Sotos syndrome oboInOwl:hasDbXref ICD10:Q87.3 Unspecified -Orphanet:821 Sotos syndrome oboInOwl:hasDbXref OMIM:617169 Unspecified -Orphanet:821 Sotos syndrome oboInOwl:hasDbXref MESH:D058495 Unspecified -Orphanet:821 Sotos syndrome oboInOwl:hasDbXref MedDRA:10064387 Unspecified -Orphanet:821 Sotos syndrome oboInOwl:hasDbXref UMLS:C0175695 Unspecified -Orphanet:821 Sotos syndrome oboInOwl:hasDbXref OMIM:117550 Unspecified -Orphanet:821 Sotos syndrome skos:narrowMatch OMIM:617169 Unspecified -Orphanet:821 Sotos syndrome skos:exactMatch UMLS:C0175695 Unspecified -Orphanet:821 Sotos syndrome skos:broadMatch ICD10:Q87.3 Unspecified -Orphanet:821 Sotos syndrome skos:exactMatch MESH:D058495 Unspecified -Orphanet:821 Sotos syndrome skos:narrowMatch OMIM:117550 Unspecified -Orphanet:821 Sotos syndrome skos:exactMatch MedDRA:10064387 Unspecified -Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref UMLS:C0282492 Unspecified -Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref MedDRA:10053841 Unspecified -Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref OMIM:182410 Unspecified -Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref MESH:D018860 Unspecified -Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref ICD10:I77.8 Unspecified -Orphanet:820 Sneddon syndrome skos:exactMatch MESH:D018860 Unspecified -Orphanet:820 Sneddon syndrome skos:exactMatch OMIM:182410 Unspecified -Orphanet:820 Sneddon syndrome skos:broadMatch ICD10:I77.8 Unspecified -Orphanet:820 Sneddon syndrome skos:exactMatch MedDRA:10053841 Unspecified -Orphanet:820 Sneddon syndrome skos:exactMatch UMLS:C0282492 Unspecified -Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref OMIM:609270 Unspecified -Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1836474 Unspecified -Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia skos:exactMatch OMIM:609270 Unspecified -Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia skos:exactMatch UMLS:C1836474 Unspecified -Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref MedDRA:10051713 Unspecified -Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref UMLS:C0027961 Unspecified -Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref ICD10:D22.3 Unspecified -Orphanet:263425 Nevus of Ota skos:broadMatch ICD10:D22.3 Unspecified -Orphanet:263425 Nevus of Ota skos:exactMatch UMLS:C0027961 Unspecified -Orphanet:263425 Nevus of Ota skos:exactMatch MedDRA:10051713 Unspecified -Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:500003 Unspecified -Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:271930 Unspecified -Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 Unspecified -Orphanet:225154 Familial infantile bilateral striatal necrosis skos:broadMatch ICD10:G23.2 Unspecified -Orphanet:225154 Familial infantile bilateral striatal necrosis skos:exactMatch OMIM:271930 Unspecified -Orphanet:225154 Familial infantile bilateral striatal necrosis skos:narrowMatch OMIM:500003 Unspecified -Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref UMLS:C0032131 Unspecified -Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref MESH:D010954 Unspecified -Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref MedDRA:10035484 Unspecified -Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref ICD10:C90.3 Unspecified -Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 Unspecified -Orphanet:86855 Plasmacytoma skos:narrowMatch ICD10:C90.3 Unspecified -Orphanet:86855 Plasmacytoma skos:exactMatch MedDRA:10035484 Unspecified -Orphanet:86855 Plasmacytoma skos:exactMatch UMLS:C0032131 Unspecified -Orphanet:86855 Plasmacytoma skos:exactMatch MESH:D010954 Unspecified -Orphanet:86855 Plasmacytoma skos:narrowMatch ICD10:C90.2 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:305100 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:224900 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:129490 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614941 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:300291 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:612132 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0406702 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0162359 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614940 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C1706004 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia skos:exactMatch ICD10:Q82.4 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:129490 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:614941 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia skos:exactMatch UMLS:C1706004 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:300291 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:224900 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:305100 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia skos:exactMatch UMLS:C0162359 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:612132 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:614940 Unspecified -Orphanet:238468 Hypohidrotic ectodermal dysplasia skos:exactMatch UMLS:C0406702 Unspecified -Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:616649 Unspecified -Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref UMLS:C0221409 Unspecified -Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref ICD10:D58.0 Unspecified -Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:182900 Unspecified -Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:612690 Unspecified -Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref MESH:C536356 Unspecified -Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:270970 Unspecified -Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref UMLS:C0037889 Unspecified -Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref MESH:D013103 Unspecified -Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:612653 Unspecified -Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref MedDRA:10019904 Unspecified -Orphanet:822 Hereditary spherocytosis skos:exactMatch UMLS:C0037889 Unspecified -Orphanet:822 Hereditary spherocytosis skos:exactMatch MESH:D013103 Unspecified -Orphanet:822 Hereditary spherocytosis skos:narrowMatch OMIM:616649 Unspecified -Orphanet:822 Hereditary spherocytosis skos:exactMatch MedDRA:10019904 Unspecified -Orphanet:822 Hereditary spherocytosis skos:narrowMatch OMIM:612690 Unspecified -Orphanet:822 Hereditary spherocytosis skos:narrowMatch OMIM:612653 Unspecified -Orphanet:822 Hereditary spherocytosis skos:exactMatch MESH:C536356 Unspecified -Orphanet:822 Hereditary spherocytosis skos:exactMatch OMIM:182900 Unspecified -Orphanet:822 Hereditary spherocytosis skos:exactMatch ICD10:D58.0 Unspecified -Orphanet:822 Hereditary spherocytosis skos:exactMatch UMLS:C0221409 Unspecified -Orphanet:822 Hereditary spherocytosis skos:narrowMatch OMIM:270970 Unspecified -Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref OMIM:607278 Unspecified -Orphanet:488265 Osteofibrous dysplasia skos:exactMatch OMIM:607278 Unspecified -Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency oboInOwl:hasDbXref OMIM:614891 Unspecified -Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch OMIM:614891 Unspecified -Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref MedDRA:10056670 Unspecified -Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref ICD10:C86.6 Unspecified -Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref MESH:D017731 Unspecified -Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref UMLS:C0206182 Unspecified -Orphanet:98842 Lymphomatoid papulosis skos:exactMatch UMLS:C0206182 Unspecified -Orphanet:98842 Lymphomatoid papulosis skos:exactMatch MESH:D017731 Unspecified -Orphanet:98842 Lymphomatoid papulosis skos:exactMatch ICD10:C86.6 Unspecified -Orphanet:98842 Lymphomatoid papulosis skos:exactMatch MedDRA:10056670 Unspecified -Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref MESH:D017728 Unspecified -Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.6 Unspecified -Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C0206180 Unspecified -Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.7 Unspecified -Orphanet:98841 Anaplastic large cell lymphoma skos:exactMatch UMLS:C0206180 Unspecified -Orphanet:98841 Anaplastic large cell lymphoma skos:narrowMatch ICD10:C84.6 Unspecified -Orphanet:98841 Anaplastic large cell lymphoma skos:narrowMatch ICD10:C84.7 Unspecified -Orphanet:98841 Anaplastic large cell lymphoma skos:exactMatch MESH:D017728 Unspecified -Orphanet:468699 SLC39A8-CDG oboInOwl:hasDbXref OMIM:616721 Unspecified -Orphanet:468699 SLC39A8-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:468699 SLC39A8-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:468699 SLC39A8-CDG skos:exactMatch OMIM:616721 Unspecified -Orphanet:447757 Autosomal dominant spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:447757 Autosomal dominant spastic paraplegia type 9B skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref UMLS:C0276226 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:616532 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:617900 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref ICD10:G05.1* Unspecified -Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:613002 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:614850 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:614849 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref ICD10:B00.4+ Unspecified -Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref UMLS:C0019385 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:610551 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis skos:narrowMatch OMIM:616532 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis skos:exactMatch ICD10:B00.4+ Unspecified -Orphanet:1930 Herpes simplex virus encephalitis skos:narrowMatch OMIM:617900 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis skos:exactMatch ICD10:G05.1* Unspecified -Orphanet:1930 Herpes simplex virus encephalitis skos:exactMatch OMIM:610551 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis skos:exactMatch UMLS:C0019385 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis skos:exactMatch UMLS:C0276226 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis skos:narrowMatch OMIM:613002 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis skos:narrowMatch OMIM:614849 Unspecified -Orphanet:1930 Herpes simplex virus encephalitis skos:narrowMatch OMIM:614850 Unspecified -Orphanet:557003 Oculocerebrodental syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:557003 Oculocerebrodental syndrome oboInOwl:hasDbXref OMIM:618440 Unspecified -Orphanet:557003 Oculocerebrodental syndrome skos:exactMatch OMIM:618440 Unspecified -Orphanet:557003 Oculocerebrodental syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:481665 USP18 deficiency oboInOwl:hasDbXref ICD10:Q02 Unspecified -Orphanet:481665 USP18 deficiency oboInOwl:hasDbXref OMIM:617397 Unspecified -Orphanet:481665 USP18 deficiency skos:broadMatch ICD10:Q02 Unspecified -Orphanet:481665 USP18 deficiency skos:exactMatch OMIM:617397 Unspecified -Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency oboInOwl:hasDbXref OMIM:614890 Unspecified -Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch OMIM:614890 Unspecified -Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref OMIM:601162 Unspecified -Orphanet:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:447753 Autosomal dominant spastic paraplegia type 9A skos:exactMatch OMIM:601162 Unspecified -Orphanet:447753 Autosomal dominant spastic paraplegia type 9A skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref OMIM:616034 Unspecified -Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref UMLS:C1857252 Unspecified -Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency skos:exactMatch UMLS:C1857252 Unspecified -Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency skos:exactMatch OMIM:616034 Unspecified -Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref ICD10:C96.2 Unspecified -Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref UMLS:C1301365 Unspecified -Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm skos:exactMatch UMLS:C1301365 Unspecified -Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm skos:broadMatch ICD10:C96.2 Unspecified -Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref OMIM:612073 Unspecified -Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch OMIM:612073 Unspecified -Orphanet:481662 Familial Chilblain lupus oboInOwl:hasDbXref OMIM:610448 Unspecified -Orphanet:481662 Familial Chilblain lupus oboInOwl:hasDbXref OMIM:614415 Unspecified -Orphanet:481662 Familial Chilblain lupus skos:narrowMatch OMIM:614415 Unspecified -Orphanet:481662 Familial Chilblain lupus skos:narrowMatch OMIM:610448 Unspecified -Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref OMIM:602066 Unspecified -Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref UMLS:C1865926 Unspecified -Orphanet:31709 Infantile convulsions and choreoathetosis skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:31709 Infantile convulsions and choreoathetosis skos:exactMatch UMLS:C1865926 Unspecified -Orphanet:31709 Infantile convulsions and choreoathetosis skos:exactMatch OMIM:602066 Unspecified -Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref ICD10:D47.0 Unspecified -Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref MedDRA:10056452 Unspecified -Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref UMLS:C0272203 Unspecified -Orphanet:98848 Indolent systemic mastocytosis skos:broadMatch ICD10:D47.0 Unspecified -Orphanet:98848 Indolent systemic mastocytosis skos:exactMatch MedDRA:10056452 Unspecified -Orphanet:98848 Indolent systemic mastocytosis skos:exactMatch UMLS:C0272203 Unspecified -Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref UMLS:C0349632 Unspecified -Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref ICD10:C83.0 Unspecified -Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref MedDRA:10062113 Unspecified -Orphanet:86854 Splenic marginal zone lymphoma skos:exactMatch MedDRA:10062113 Unspecified -Orphanet:86854 Splenic marginal zone lymphoma skos:exactMatch UMLS:C0349632 Unspecified -Orphanet:86854 Splenic marginal zone lymphoma skos:broadMatch ICD10:C83.0 Unspecified -Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref UMLS:C0001815 Unspecified -Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref OMIM:254450 Unspecified -Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref ICD10:D47.4 Unspecified -Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref UMLS:C0026987 Unspecified -Orphanet:824 Primary myelofibrosis skos:exactMatch UMLS:C0026987 Unspecified -Orphanet:824 Primary myelofibrosis skos:exactMatch OMIM:254450 Unspecified -Orphanet:824 Primary myelofibrosis skos:exactMatch UMLS:C0001815 Unspecified -Orphanet:824 Primary myelofibrosis skos:broadMatch ICD10:D47.4 Unspecified -Orphanet:827 Stargardt disease oboInOwl:hasDbXref OMIM:603786 Unspecified -Orphanet:827 Stargardt disease oboInOwl:hasDbXref UMLS:C0271093 Unspecified -Orphanet:827 Stargardt disease oboInOwl:hasDbXref UMLS:C1855465 Unspecified -Orphanet:827 Stargardt disease oboInOwl:hasDbXref OMIM:600110 Unspecified -Orphanet:827 Stargardt disease oboInOwl:hasDbXref OMIM:248200 Unspecified -Orphanet:827 Stargardt disease oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:827 Stargardt disease oboInOwl:hasDbXref MedDRA:10062766 Unspecified -Orphanet:827 Stargardt disease skos:exactMatch MedDRA:10062766 Unspecified -Orphanet:827 Stargardt disease skos:exactMatch OMIM:248200 Unspecified -Orphanet:827 Stargardt disease skos:exactMatch UMLS:C0271093 Unspecified -Orphanet:827 Stargardt disease skos:exactMatch UMLS:C1855465 Unspecified -Orphanet:827 Stargardt disease skos:narrowMatch OMIM:600110 Unspecified -Orphanet:827 Stargardt disease skos:narrowMatch OMIM:603786 Unspecified -Orphanet:827 Stargardt disease skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:826 Sporotrichosis oboInOwl:hasDbXref UMLS:C0038034 Unspecified -Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.9 Unspecified -Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.7 Unspecified -Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.1 Unspecified -Orphanet:826 Sporotrichosis oboInOwl:hasDbXref MESH:D013174 Unspecified -Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.8 Unspecified -Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.0 Unspecified -Orphanet:826 Sporotrichosis oboInOwl:hasDbXref MedDRA:10041736 Unspecified -Orphanet:826 Sporotrichosis skos:exactMatch MedDRA:10041736 Unspecified -Orphanet:826 Sporotrichosis skos:narrowMatch ICD10:B42.1 Unspecified -Orphanet:826 Sporotrichosis skos:narrowMatch ICD10:B42.7 Unspecified -Orphanet:826 Sporotrichosis skos:narrowMatch ICD10:B42.9 Unspecified -Orphanet:826 Sporotrichosis skos:exactMatch MESH:D013174 Unspecified -Orphanet:826 Sporotrichosis skos:narrowMatch ICD10:B42.0 Unspecified -Orphanet:826 Sporotrichosis skos:narrowMatch ICD10:B42.8 Unspecified -Orphanet:826 Sporotrichosis skos:exactMatch UMLS:C0038034 Unspecified -Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref MESH:D054403 Unspecified -Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref UMLS:C0475801 Unspecified -Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.3 Unspecified -Orphanet:86852 B-cell prolymphocytic leukemia skos:broadMatch ICD10:C91.3 Unspecified -Orphanet:86852 B-cell prolymphocytic leukemia skos:exactMatch UMLS:C0475801 Unspecified -Orphanet:86852 B-cell prolymphocytic leukemia skos:exactMatch MESH:D054403 Unspecified -Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref UMLS:C1853271 Unspecified -Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref OMIM:241530 Unspecified -Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref ICD10:E83.3 Unspecified -Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch UMLS:C1853271 Unspecified -Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria skos:broadMatch ICD10:E83.3 Unspecified -Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch OMIM:241530 Unspecified -Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref MedDRA:10064056 Unspecified -Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref MESH:D014924 Unspecified -Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref MedDRA:10058493 Unspecified -Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref MESH:D016706 Unspecified -Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref UMLS:C0085253 Unspecified -Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref ICD10:M06.1 Unspecified -Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref UMLS:C0043195 Unspecified -Orphanet:829 Adult-onset Still disease skos:exactMatch UMLS:C0043195 Unspecified -Orphanet:829 Adult-onset Still disease skos:exactMatch MESH:D016706 Unspecified -Orphanet:829 Adult-onset Still disease skos:exactMatch MESH:D014924 Unspecified -Orphanet:829 Adult-onset Still disease skos:exactMatch MedDRA:10058493 Unspecified -Orphanet:829 Adult-onset Still disease skos:exactMatch ICD10:M06.1 Unspecified -Orphanet:829 Adult-onset Still disease skos:exactMatch MedDRA:10064056 Unspecified -Orphanet:829 Adult-onset Still disease skos:exactMatch UMLS:C0085253 Unspecified -Orphanet:828 Stickler syndrome oboInOwl:hasDbXref MedDRA:10063402 Unspecified -Orphanet:828 Stickler syndrome oboInOwl:hasDbXref ICD10:Q87.0 Unspecified -Orphanet:828 Stickler syndrome oboInOwl:hasDbXref OMIM:614284 Unspecified -Orphanet:828 Stickler syndrome oboInOwl:hasDbXref OMIM:604841 Unspecified -Orphanet:828 Stickler syndrome oboInOwl:hasDbXref UMLS:C0265253 Unspecified -Orphanet:828 Stickler syndrome oboInOwl:hasDbXref OMIM:614134 Unspecified -Orphanet:828 Stickler syndrome oboInOwl:hasDbXref OMIM:108300 Unspecified -Orphanet:828 Stickler syndrome oboInOwl:hasDbXref OMIM:609508 Unspecified -Orphanet:828 Stickler syndrome oboInOwl:hasDbXref MESH:C537492 Unspecified -Orphanet:828 Stickler syndrome skos:exactMatch MESH:C537492 Unspecified -Orphanet:828 Stickler syndrome skos:broadMatch ICD10:Q87.0 Unspecified -Orphanet:828 Stickler syndrome skos:narrowMatch OMIM:614134 Unspecified -Orphanet:828 Stickler syndrome skos:narrowMatch OMIM:604841 Unspecified -Orphanet:828 Stickler syndrome skos:narrowMatch OMIM:614284 Unspecified -Orphanet:828 Stickler syndrome skos:exactMatch MedDRA:10063402 Unspecified -Orphanet:828 Stickler syndrome skos:narrowMatch OMIM:108300 Unspecified -Orphanet:828 Stickler syndrome skos:exactMatch UMLS:C0265253 Unspecified -Orphanet:828 Stickler syndrome skos:narrowMatch OMIM:609508 Unspecified -Orphanet:86850 Myeloid sarcoma oboInOwl:hasDbXref ICD10:C92.3 Unspecified -Orphanet:86850 Myeloid sarcoma oboInOwl:hasDbXref MESH:D023981 Unspecified -Orphanet:86850 Myeloid sarcoma oboInOwl:hasDbXref UMLS:C0152276 Unspecified -Orphanet:86850 Myeloid sarcoma skos:broadMatch ICD10:C92.3 Unspecified -Orphanet:86850 Myeloid sarcoma skos:exactMatch UMLS:C0152276 Unspecified -Orphanet:86850 Myeloid sarcoma skos:exactMatch MESH:D023981 Unspecified -Orphanet:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref OMIM:616586 Unspecified -Orphanet:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:447760 Autosomal recessive spastic paraplegia type 9B skos:exactMatch OMIM:616586 Unspecified -Orphanet:447760 Autosomal recessive spastic paraplegia type 9B skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:810 Shigellosis oboInOwl:hasDbXref MedDRA:10054178 Unspecified -Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.0 Unspecified -Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.2 Unspecified -Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.8 Unspecified -Orphanet:810 Shigellosis oboInOwl:hasDbXref UMLS:C0013371 Unspecified -Orphanet:810 Shigellosis oboInOwl:hasDbXref MedDRA:10017915 Unspecified -Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.1 Unspecified -Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.3 Unspecified -Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.9 Unspecified -Orphanet:810 Shigellosis skos:narrowMatch ICD10:A03.2 Unspecified -Orphanet:810 Shigellosis skos:narrowMatch ICD10:A03.0 Unspecified -Orphanet:810 Shigellosis skos:narrowMatch ICD10:A03.8 Unspecified -Orphanet:810 Shigellosis skos:exactMatch UMLS:C0013371 Unspecified -Orphanet:810 Shigellosis skos:narrowMatch ICD10:A03.1 Unspecified -Orphanet:810 Shigellosis skos:narrowMatch ICD10:A03.3 Unspecified -Orphanet:810 Shigellosis skos:narrowMatch ICD10:A03.9 Unspecified -Orphanet:810 Shigellosis skos:exactMatch MedDRA:10054178 Unspecified -Orphanet:810 Shigellosis skos:exactMatch MedDRA:10017915 Unspecified -Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl:hasDbXref OMIM:617514 Unspecified -Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl:hasDbXref ICD10:D81.2 Unspecified -Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency skos:broadMatch ICD10:D81.2 Unspecified -Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency skos:exactMatch OMIM:617514 Unspecified -Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref UMLS:C0024307 Unspecified -Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref MESH:D008230 Unspecified -Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref MedDRA:10025325 Unspecified -Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref ICD10:C83.8 Unspecified -Orphanet:86869 Lymphomatoid granulomatosis skos:broadMatch ICD10:C83.8 Unspecified -Orphanet:86869 Lymphomatoid granulomatosis skos:exactMatch MedDRA:10025325 Unspecified -Orphanet:86869 Lymphomatoid granulomatosis skos:exactMatch MESH:D008230 Unspecified -Orphanet:86869 Lymphomatoid granulomatosis skos:exactMatch UMLS:C0024307 Unspecified -Orphanet:468684 CCDC115-CDG oboInOwl:hasDbXref OMIM:616828 Unspecified -Orphanet:468684 CCDC115-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:468684 CCDC115-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:468684 CCDC115-CDG skos:exactMatch OMIM:616828 Unspecified -Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref MedDRA:10002476 Unspecified -Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref UMLS:C0018923 Unspecified -Orphanet:263413 Angiosarcoma skos:exactMatch MedDRA:10002476 Unspecified -Orphanet:263413 Angiosarcoma skos:exactMatch UMLS:C0018923 Unspecified -Orphanet:263413 Angiosarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref UMLS:C1850510 Unspecified -Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref UMLS:C0268226 Unspecified -Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref OMIM:256550 Unspecified -Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref UMLS:C0023806 Unspecified -Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref ICD10:E77.1 Unspecified -Orphanet:812 Sialidosis type 1 skos:exactMatch UMLS:C0023806 Unspecified -Orphanet:812 Sialidosis type 1 skos:broadMatch ICD10:E77.1 Unspecified -Orphanet:812 Sialidosis type 1 skos:exactMatch UMLS:C0268226 Unspecified -Orphanet:812 Sialidosis type 1 skos:broadMatch OMIM:256550 Unspecified -Orphanet:812 Sialidosis type 1 skos:exactMatch UMLS:C1850510 Unspecified -Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 Unspecified -Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 Unspecified -Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 Unspecified -Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 Unspecified -Orphanet:101685 Rare non-syndromic intellectual disability skos:narrowMatch ICD10:F70 Unspecified -Orphanet:101685 Rare non-syndromic intellectual disability skos:narrowMatch ICD10:F72 Unspecified -Orphanet:101685 Rare non-syndromic intellectual disability skos:narrowMatch ICD10:F71 Unspecified -Orphanet:101685 Rare non-syndromic intellectual disability skos:narrowMatch ICD10:F73 Unspecified -Orphanet:538756 Familial multiple discoid fibromas oboInOwl:hasDbXref OMIM:190340 Unspecified -Orphanet:538756 Familial multiple discoid fibromas oboInOwl:hasDbXref ICD10:D23.9 Unspecified -Orphanet:538756 Familial multiple discoid fibromas skos:broadMatch ICD10:D23.9 Unspecified -Orphanet:538756 Familial multiple discoid fibromas skos:exactMatch OMIM:190340 Unspecified -Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref UMLS:C0272170 Unspecified -Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref OMIM:617941 Unspecified -Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref MedDRA:10067940 Unspecified -Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref OMIM:260400 Unspecified -Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref ICD10:D61.0 Unspecified -Orphanet:811 Shwachman-Diamond syndrome skos:exactMatch UMLS:C0272170 Unspecified -Orphanet:811 Shwachman-Diamond syndrome skos:narrowMatch OMIM:260400 Unspecified -Orphanet:811 Shwachman-Diamond syndrome skos:narrowMatch OMIM:617941 Unspecified -Orphanet:811 Shwachman-Diamond syndrome skos:broadMatch ICD10:D61.0 Unspecified -Orphanet:811 Shwachman-Diamond syndrome skos:exactMatch MedDRA:10067940 Unspecified -Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref MedDRA:10029460 Unspecified -Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 Unspecified -Orphanet:86867 Nodal marginal zone B-cell lymphoma skos:broadMatch ICD10:C83.0 Unspecified -Orphanet:86867 Nodal marginal zone B-cell lymphoma skos:exactMatch MedDRA:10029460 Unspecified -Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:300908 Unspecified -Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.0 Unspecified -Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency skos:broadMatch OMIM:300908 Unspecified -Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency skos:broadMatch ICD10:D55.0 Unspecified -Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref UMLS:C1292775 Unspecified -Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref ICD10:C92.6 Unspecified -Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities skos:exactMatch UMLS:C1292775 Unspecified -Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities skos:exactMatch ICD10:C92.6 Unspecified -Orphanet:98833 Acute myeloblastic leukemia without maturation oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:98833 Acute myeloblastic leukemia without maturation oboInOwl:hasDbXref UMLS:C0026998 Unspecified -Orphanet:98833 Acute myeloblastic leukemia without maturation skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:98833 Acute myeloblastic leukemia without maturation skos:exactMatch UMLS:C0026998 Unspecified -Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref OMIM:619256 Unspecified -Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref UMLS:C1843139 Unspecified -Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref OMIM:607748 Unspecified -Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:238475 Familial hypercholanemia skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:238475 Familial hypercholanemia skos:narrowMatch OMIM:607748 Unspecified -Orphanet:238475 Familial hypercholanemia skos:exactMatch UMLS:C1843139 Unspecified -Orphanet:238475 Familial hypercholanemia skos:narrowMatch OMIM:619256 Unspecified -Orphanet:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref UMLS:C3888044 Unspecified -Orphanet:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref UMLS:C1619692 Unspecified -Orphanet:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref MedDRA:10067467 Unspecified -Orphanet:137617 Nephrogenic systemic fibrosis skos:exactMatch MedDRA:10067467 Unspecified -Orphanet:137617 Nephrogenic systemic fibrosis skos:exactMatch UMLS:C1619692 Unspecified -Orphanet:137617 Nephrogenic systemic fibrosis skos:exactMatch UMLS:C3888044 Unspecified -Orphanet:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref UMLS:C0522631 Unspecified -Orphanet:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:98832 Acute myeloid leukemia with minimal differentiation skos:exactMatch UMLS:C0522631 Unspecified -Orphanet:98832 Acute myeloid leukemia with minimal differentiation skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref UMLS:C2930918 Unspecified -Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref MESH:C535495 Unspecified -Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref OMIM:607631 Unspecified -Orphanet:1941 Juvenile absence epilepsy skos:exactMatch OMIM:607631 Unspecified -Orphanet:1941 Juvenile absence epilepsy skos:exactMatch MESH:C535495 Unspecified -Orphanet:1941 Juvenile absence epilepsy skos:exactMatch UMLS:C2930918 Unspecified -Orphanet:1941 Juvenile absence epilepsy skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency oboInOwl:hasDbXref OMIM:614889 Unspecified -Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:broadMatch OMIM:614889 Unspecified -Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref OMIM:245570 Unspecified -Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref UMLS:C0376532 Unspecified -Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref UMLS:C2363129 Unspecified -Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref ICD10:G40.0 Unspecified -Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref OMIM:117100 Unspecified -Orphanet:1945 Rolandic epilepsy skos:exactMatch UMLS:C2363129 Unspecified -Orphanet:1945 Rolandic epilepsy skos:exactMatch OMIM:117100 Unspecified -Orphanet:1945 Rolandic epilepsy skos:exactMatch UMLS:C0376532 Unspecified -Orphanet:1945 Rolandic epilepsy skos:broadMatch ICD10:G40.0 Unspecified -Orphanet:1945 Rolandic epilepsy skos:broadMatch OMIM:245570 Unspecified -Orphanet:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10069643 Unspecified -Orphanet:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 Unspecified -Orphanet:98839 Intravascular large B-cell lymphoma skos:broadMatch ICD10:C83.3 Unspecified -Orphanet:98839 Intravascular large B-cell lymphoma skos:exactMatch MedDRA:10069643 Unspecified -Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10036710 Unspecified -Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 Unspecified -Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref UMLS:C0855152 Unspecified -Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref UMLS:C1292754 Unspecified -Orphanet:98838 Primary mediastinal large B-cell lymphoma skos:exactMatch UMLS:C1292754 Unspecified -Orphanet:98838 Primary mediastinal large B-cell lymphoma skos:exactMatch UMLS:C0855152 Unspecified -Orphanet:98838 Primary mediastinal large B-cell lymphoma skos:exactMatch MedDRA:10036710 Unspecified -Orphanet:98838 Primary mediastinal large B-cell lymphoma skos:broadMatch ICD10:C83.3 Unspecified -Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref UMLS:C0393702 Unspecified -Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref OMIM:615369 Unspecified -Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref OMIM:616421 Unspecified -Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref OMIM:618587 Unspecified -Orphanet:1942 Myoclonic-astatic epilepsy skos:narrowMatch OMIM:616421 Unspecified -Orphanet:1942 Myoclonic-astatic epilepsy skos:narrowMatch OMIM:615369 Unspecified -Orphanet:1942 Myoclonic-astatic epilepsy skos:exactMatch UMLS:C0393702 Unspecified -Orphanet:1942 Myoclonic-astatic epilepsy skos:narrowMatch OMIM:618587 Unspecified -Orphanet:1942 Myoclonic-astatic epilepsy skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref MESH:D020936 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref MESH:C535466 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref MedDRA:10067866 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:121201 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref UMLS:C2930911 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref UMLS:C0220669 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:269720 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:121200 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:608217 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy skos:exactMatch OMIM:121200 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy skos:narrowMatch OMIM:269720 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy skos:narrowMatch OMIM:608217 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy skos:exactMatch MESH:C535466 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy skos:exactMatch UMLS:C0220669 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy skos:narrowMatch OMIM:121201 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy skos:exactMatch MESH:D020936 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy skos:exactMatch MedDRA:10067866 Unspecified -Orphanet:1949 Benign familial neonatal epilepsy skos:exactMatch UMLS:C2930911 Unspecified -Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref ICD10:C95.0 Unspecified -Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref UMLS:C0856823 Unspecified -Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref UMLS:C0280141 Unspecified -Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref MedDRA:10045516 Unspecified -Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref OMIM:601626 Unspecified -Orphanet:98835 Acute undifferentiated leukemia skos:exactMatch MedDRA:10045516 Unspecified -Orphanet:98835 Acute undifferentiated leukemia skos:broadMatch ICD10:C95.0 Unspecified -Orphanet:98835 Acute undifferentiated leukemia skos:exactMatch UMLS:C0856823 Unspecified -Orphanet:98835 Acute undifferentiated leukemia skos:broadMatch OMIM:601626 Unspecified -Orphanet:98835 Acute undifferentiated leukemia skos:exactMatch UMLS:C0280141 Unspecified -Orphanet:163956 X-linked intellectual disability, Nascimento type oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:163956 X-linked intellectual disability, Nascimento type oboInOwl:hasDbXref OMIM:300860 Unspecified -Orphanet:163956 X-linked intellectual disability, Nascimento type skos:exactMatch OMIM:300860 Unspecified -Orphanet:163956 X-linked intellectual disability, Nascimento type skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:98834 Acute myeloblastic leukemia with maturation oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:98834 Acute myeloblastic leukemia with maturation oboInOwl:hasDbXref UMLS:C1879321 Unspecified -Orphanet:98834 Acute myeloblastic leukemia with maturation skos:exactMatch UMLS:C1879321 Unspecified -Orphanet:98834 Acute myeloblastic leukemia with maturation skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref ICD10:E75.4 Unspecified -Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref OMIM:610003 Unspecified -Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref UMLS:C1864923 Unspecified -Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type skos:exactMatch UMLS:C1864923 Unspecified -Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type skos:exactMatch OMIM:610003 Unspecified -Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type skos:broadMatch ICD10:E75.4 Unspecified -Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref MedDRA:10019350 Unspecified -Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 Unspecified -Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref MESH:D006362 Unspecified -Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref UMLS:C0018852 Unspecified -Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref ICD10:C88.3 Unspecified -Orphanet:86864 Heavy chain disease skos:narrowMatch ICD10:C88.2 Unspecified -Orphanet:86864 Heavy chain disease skos:exactMatch MESH:D006362 Unspecified -Orphanet:86864 Heavy chain disease skos:exactMatch UMLS:C0018852 Unspecified -Orphanet:86864 Heavy chain disease skos:narrowMatch ICD10:C88.3 Unspecified -Orphanet:86864 Heavy chain disease skos:exactMatch MedDRA:10019350 Unspecified -Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref MESH:D056730 Unspecified -Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:616489 Unspecified -Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref MedDRA:10062282 Unspecified -Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:312780 Unspecified -Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref UMLS:C0175693 Unspecified -Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:180860 Unspecified -Orphanet:813 Silver-Russell syndrome skos:narrowMatch OMIM:312780 Unspecified -Orphanet:813 Silver-Russell syndrome skos:exactMatch UMLS:C0175693 Unspecified -Orphanet:813 Silver-Russell syndrome skos:exactMatch OMIM:180860 Unspecified -Orphanet:813 Silver-Russell syndrome skos:exactMatch MedDRA:10062282 Unspecified -Orphanet:813 Silver-Russell syndrome skos:narrowMatch OMIM:616489 Unspecified -Orphanet:813 Silver-Russell syndrome skos:broadMatch ICD10:Q87.1 Unspecified -Orphanet:813 Silver-Russell syndrome skos:exactMatch MESH:D056730 Unspecified -Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.0 Unspecified -Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref UMLS:C1842676 Unspecified -Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref OMIM:608029 Unspecified -Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:broadMatch ICD10:G11.0 Unspecified -Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch OMIM:608029 Unspecified -Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch UMLS:C1842676 Unspecified -Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref UMLS:C0037231 Unspecified -Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref OMIM:270200 Unspecified -Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref MESH:D016111 Unspecified -Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref MedDRA:10048676 Unspecified -Orphanet:816 Sjögren-Larsson syndrome skos:exactMatch MESH:D016111 Unspecified -Orphanet:816 Sjögren-Larsson syndrome skos:exactMatch OMIM:270200 Unspecified -Orphanet:816 Sjögren-Larsson syndrome skos:exactMatch MedDRA:10048676 Unspecified -Orphanet:816 Sjögren-Larsson syndrome skos:exactMatch UMLS:C0037231 Unspecified -Orphanet:816 Sjögren-Larsson syndrome skos:exactMatch ICD10:Q87.1 Unspecified -Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref OMIM:300988 Unspecified -Orphanet:504530 Combined immunodeficiency due to Moesin deficiency skos:exactMatch OMIM:300988 Unspecified -Orphanet:504530 Combined immunodeficiency due to Moesin deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:88619 Familial acute necrotizing encephalopathy oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:88619 Familial acute necrotizing encephalopathy oboInOwl:hasDbXref OMIM:608033 Unspecified -Orphanet:88619 Familial acute necrotizing encephalopathy skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:88619 Familial acute necrotizing encephalopathy skos:exactMatch OMIM:608033 Unspecified -Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref OMIM:613752 Unspecified -Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref ICD10:E72.1 Unspecified -Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref UMLS:C3151058 Unspecified -Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency skos:exactMatch UMLS:C3151058 Unspecified -Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency skos:broadMatch ICD10:E72.1 Unspecified -Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency skos:exactMatch OMIM:613752 Unspecified -Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome oboInOwl:hasDbXref OMIM:613845 Unspecified -Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:exactMatch OMIM:613845 Unspecified -Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency oboInOwl:hasDbXref OMIM:618328 Unspecified -Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency skos:exactMatch OMIM:618328 Unspecified -Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:59298 Schilder disease oboInOwl:hasDbXref OMIM:272100 Unspecified -Orphanet:59298 Schilder disease oboInOwl:hasDbXref UMLS:C0007795 Unspecified -Orphanet:59298 Schilder disease oboInOwl:hasDbXref ICD10:G37.0 Unspecified -Orphanet:59298 Schilder disease skos:exactMatch OMIM:272100 Unspecified -Orphanet:59298 Schilder disease skos:exactMatch ICD10:G37.0 Unspecified -Orphanet:59298 Schilder disease skos:exactMatch UMLS:C0007795 Unspecified -Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder oboInOwl:hasDbXref OMIM:617672 Unspecified -Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch OMIM:617672 Unspecified -Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome oboInOwl:hasDbXref OMIM:615074 Unspecified -Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:exactMatch OMIM:615074 Unspecified -Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref ICD10:N04.2 Unspecified -Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref UMLS:C0086445 Unspecified -Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref OMIM:614692 Unspecified -Orphanet:97560 Primary membranous glomerulonephritis skos:broadMatch ICD10:N04.2 Unspecified -Orphanet:97560 Primary membranous glomerulonephritis skos:exactMatch OMIM:614692 Unspecified -Orphanet:97560 Primary membranous glomerulonephritis skos:exactMatch UMLS:C0086445 Unspecified -Orphanet:98890 Early-onset X-linked optic atrophy oboInOwl:hasDbXref OMIM:311050 Unspecified -Orphanet:98890 Early-onset X-linked optic atrophy oboInOwl:hasDbXref ICD10:H47.2 Unspecified -Orphanet:98890 Early-onset X-linked optic atrophy oboInOwl:hasDbXref UMLS:C1839576 Unspecified -Orphanet:98890 Early-onset X-linked optic atrophy skos:broadMatch ICD10:H47.2 Unspecified -Orphanet:98890 Early-onset X-linked optic atrophy skos:exactMatch UMLS:C1839576 Unspecified -Orphanet:98890 Early-onset X-linked optic atrophy skos:exactMatch OMIM:311050 Unspecified -Orphanet:88629 Tritanopia oboInOwl:hasDbXref ICD10:H53.5 Unspecified -Orphanet:88629 Tritanopia oboInOwl:hasDbXref UMLS:C0155017 Unspecified -Orphanet:88629 Tritanopia oboInOwl:hasDbXref OMIM:190900 Unspecified -Orphanet:88629 Tritanopia skos:exactMatch UMLS:C0155017 Unspecified -Orphanet:88629 Tritanopia skos:broadMatch ICD10:H53.5 Unspecified -Orphanet:88629 Tritanopia skos:exactMatch OMIM:190900 Unspecified -Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C1836916 Unspecified -Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref MESH:C536343 Unspecified -Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:609033 Unspecified -Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch OMIM:609033 Unspecified -Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch UMLS:C1836916 Unspecified -Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch MESH:C536343 Unspecified -Orphanet:263435 Congenital smooth muscle hamartoma oboInOwl:hasDbXref UMLS:C0406819 Unspecified -Orphanet:263435 Congenital smooth muscle hamartoma skos:exactMatch UMLS:C0406819 Unspecified -Orphanet:391651 Glomus tumor oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:391651 Glomus tumor oboInOwl:hasDbXref UMLS:C0017653 Unspecified -Orphanet:391651 Glomus tumor skos:exactMatch UMLS:C0017653 Unspecified -Orphanet:391651 Glomus tumor skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:164310 Unspecified -Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref UMLS:C1834014 Unspecified -Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:618940 Unspecified -Orphanet:98897 Oculopharyngodistal myopathy skos:narrowMatch OMIM:164310 Unspecified -Orphanet:98897 Oculopharyngodistal myopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:98897 Oculopharyngodistal myopathy skos:narrowMatch OMIM:618940 Unspecified -Orphanet:98897 Oculopharyngodistal myopathy skos:exactMatch UMLS:C1834014 Unspecified -Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref MedDRA:10013801 Unspecified -Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref OMIM:310200 Unspecified -Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref UMLS:C0013264 Unspecified -Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref MESH:D020388 Unspecified -Orphanet:98896 Duchenne muscular dystrophy skos:exactMatch MESH:D020388 Unspecified -Orphanet:98896 Duchenne muscular dystrophy skos:exactMatch UMLS:C0013264 Unspecified -Orphanet:98896 Duchenne muscular dystrophy skos:exactMatch OMIM:310200 Unspecified -Orphanet:98896 Duchenne muscular dystrophy skos:exactMatch MedDRA:10013801 Unspecified -Orphanet:98896 Duchenne muscular dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:97566 Non-amyloid fibrillary glomerulopathy oboInOwl:hasDbXref ICD10:N03.6 Unspecified -Orphanet:97566 Non-amyloid fibrillary glomerulopathy skos:broadMatch ICD10:N03.6 Unspecified -Orphanet:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref UMLS:C0268749 Unspecified -Orphanet:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref UMLS:C2242534 Unspecified -Orphanet:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref ICD10:N03.6 Unspecified -Orphanet:97567 Immunotactoid glomerulopathy skos:broadMatch ICD10:N03.6 Unspecified -Orphanet:97567 Immunotactoid glomerulopathy skos:exactMatch UMLS:C0268749 Unspecified -Orphanet:97567 Immunotactoid glomerulopathy skos:exactMatch UMLS:C2242534 Unspecified -Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome oboInOwl:hasDbXref OMIM:617171 Unspecified -Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome oboInOwl:hasDbXref ICD10:F78.8 Unspecified -Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome skos:exactMatch OMIM:617171 Unspecified -Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome skos:broadMatch ICD10:F78.8 Unspecified -Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref OMIM:604801 Unspecified -Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref UMLS:C1858118 Unspecified -Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:98893 Congenital muscular dystrophy type 1B skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:98893 Congenital muscular dystrophy type 1B skos:exactMatch UMLS:C1858118 Unspecified -Orphanet:98893 Congenital muscular dystrophy type 1B skos:exactMatch OMIM:604801 Unspecified -Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref UMLS:C0917713 Unspecified -Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref OMIM:159050 Unspecified -Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref OMIM:300376 Unspecified -Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref MedDRA:10059117 Unspecified -Orphanet:98895 Becker muscular dystrophy skos:exactMatch OMIM:300376 Unspecified -Orphanet:98895 Becker muscular dystrophy skos:exactMatch MedDRA:10059117 Unspecified -Orphanet:98895 Becker muscular dystrophy skos:narrowMatch OMIM:159050 Unspecified -Orphanet:98895 Becker muscular dystrophy skos:exactMatch UMLS:C0917713 Unspecified -Orphanet:98895 Becker muscular dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 Unspecified -Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref MESH:C535584 Unspecified -Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref OMIM:212080 Unspecified -Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref UMLS:C1708371 Unspecified -Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref OMIM:500000 Unspecified -Orphanet:137675 Histiocytoid cardiomyopathy skos:exactMatch UMLS:C1708371 Unspecified -Orphanet:137675 Histiocytoid cardiomyopathy skos:exactMatch OMIM:500000 Unspecified -Orphanet:137675 Histiocytoid cardiomyopathy skos:narrowMatch OMIM:212080 Unspecified -Orphanet:137675 Histiocytoid cardiomyopathy skos:broadMatch ICD10:I42.0 Unspecified -Orphanet:137675 Histiocytoid cardiomyopathy skos:exactMatch MESH:C535584 Unspecified -Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref OMIM:609162 Unspecified -Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref MESH:C535766 Unspecified -Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref UMLS:C1836683 Unspecified -Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch UMLS:C1836683 Unspecified -Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch OMIM:609162 Unspecified -Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch MESH:C535766 Unspecified -Orphanet:263432 Nevus of Ito oboInOwl:hasDbXref ICD10:D22.6 Unspecified -Orphanet:263432 Nevus of Ito oboInOwl:hasDbXref UMLS:C0022283 Unspecified -Orphanet:263432 Nevus of Ito skos:exactMatch UMLS:C0022283 Unspecified -Orphanet:263432 Nevus of Ito skos:broadMatch ICD10:D22.6 Unspecified -Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref OMIM:608649 Unspecified -Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref MESH:C536271 Unspecified -Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref UMLS:C1837610 Unspecified -Orphanet:88621 Ichthyosis-prematurity syndrome skos:exactMatch UMLS:C1837610 Unspecified -Orphanet:88621 Ichthyosis-prematurity syndrome skos:exactMatch MESH:C536271 Unspecified -Orphanet:88621 Ichthyosis-prematurity syndrome skos:exactMatch OMIM:608649 Unspecified -Orphanet:137672 Pellucid marginal degeneration oboInOwl:hasDbXref ICD10:H18.7 Unspecified -Orphanet:137672 Pellucid marginal degeneration skos:broadMatch ICD10:H18.7 Unspecified -Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref OMIM:107200 Unspecified -Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref ICD10:Q07.8 Unspecified -Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref UMLS:C0393778 Unspecified -Orphanet:88620 Isolated congenital anosmia skos:exactMatch UMLS:C0393778 Unspecified -Orphanet:88620 Isolated congenital anosmia skos:broadMatch ICD10:Q07.8 Unspecified -Orphanet:88620 Isolated congenital anosmia skos:exactMatch OMIM:107200 Unspecified -Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.1 Unspecified -Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.3 Unspecified -Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.2 Unspecified -Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 Unspecified -Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung skos:narrowMatch ICD10:C34.1 Unspecified -Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung skos:narrowMatch ICD10:C34.3 Unspecified -Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung skos:narrowMatch ICD10:C34.8 Unspecified -Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung skos:narrowMatch ICD10:C34.2 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref ICD10:E78.0 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:603813 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:143890 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:602247 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:144010 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref UMLS:C0342881 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia skos:exactMatch UMLS:C0342881 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia skos:broadMatch OMIM:143890 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia skos:narrowMatch OMIM:602247 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia skos:broadMatch ICD10:E78.0 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia skos:narrowMatch OMIM:603813 Unspecified -Orphanet:391665 Homozygous familial hypercholesterolemia skos:narrowMatch OMIM:144010 Unspecified -Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.1 Unspecified -Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.0 Unspecified -Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma skos:narrowMatch ICD10:C22.0 Unspecified -Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma skos:narrowMatch ICD10:C22.1 Unspecified -Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.0 Unspecified -Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.4 Unspecified -Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.2 Unspecified -Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.6 Unspecified -Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.8 Unspecified -Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.1 Unspecified -Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.3 Unspecified -Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.5 Unspecified -Orphanet:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref OMIM:614946 Unspecified -Orphanet:319519 Combined oxidative phosphorylation defect type 14 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:319519 Combined oxidative phosphorylation defect type 14 skos:exactMatch OMIM:614946 Unspecified -Orphanet:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref OMIM:614932 Unspecified -Orphanet:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:319514 Combined oxidative phosphorylation defect type 13 skos:exactMatch OMIM:614932 Unspecified -Orphanet:319514 Combined oxidative phosphorylation defect type 13 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ICD10:E31.0 Unspecified -Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref UMLS:C0342288 Unspecified -Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref OMIM:304790 Unspecified -Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch UMLS:C0342288 Unspecified -Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch OMIM:304790 Unspecified -Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:broadMatch ICD10:E31.0 Unspecified -Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 Unspecified -Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref UMLS:C1260327 Unspecified -Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref MESH:D054752 Unspecified -Orphanet:86897 Langerhans cell sarcoma skos:exactMatch UMLS:C1260327 Unspecified -Orphanet:86897 Langerhans cell sarcoma skos:exactMatch MESH:D054752 Unspecified -Orphanet:86897 Langerhans cell sarcoma skos:broadMatch ICD10:C96.4 Unspecified -Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref ICD10:Q74.8 Unspecified -Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref UMLS:C2931649 Unspecified -Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref OMIM:143095 Unspecified -Orphanet:263463 CHST3-related skeletal dysplasia skos:exactMatch OMIM:143095 Unspecified -Orphanet:263463 CHST3-related skeletal dysplasia skos:exactMatch UMLS:C2931649 Unspecified -Orphanet:263463 CHST3-related skeletal dysplasia skos:broadMatch ICD10:Q74.8 Unspecified -Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref ICD10:C96.8 Unspecified -Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref UMLS:C0334663 Unspecified -Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref MESH:D054747 Unspecified -Orphanet:86896 Histiocytic sarcoma skos:exactMatch MESH:D054747 Unspecified -Orphanet:86896 Histiocytic sarcoma skos:exactMatch ICD10:C96.8 Unspecified -Orphanet:86896 Histiocytic sarcoma skos:exactMatch UMLS:C0334663 Unspecified -Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C1334968 Unspecified -Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.0 Unspecified -Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C2239290 Unspecified -Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch UMLS:C2239290 Unspecified -Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch UMLS:C1334968 Unspecified -Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma skos:broadMatch ICD10:C81.0 Unspecified -Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia oboInOwl:hasDbXref OMIM:605637 Unspecified -Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:broadMatch OMIM:605637 Unspecified -Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:163908 Limbic encephalitis with LGI1 antibodies oboInOwl:hasDbXref ICD10:G04.8 Unspecified -Orphanet:163908 Limbic encephalitis with LGI1 antibodies skos:broadMatch ICD10:G04.8 Unspecified -Orphanet:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref MESH:D003811 Unspecified -Orphanet:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref UMLS:C0011436 Unspecified -Orphanet:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 Unspecified -Orphanet:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref UMLS:C2973527 Unspecified -Orphanet:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref MedDRA:10054013 Unspecified -Orphanet:49042 Dentinogenesis imperfecta skos:exactMatch UMLS:C0011436 Unspecified -Orphanet:49042 Dentinogenesis imperfecta skos:exactMatch UMLS:C2973527 Unspecified -Orphanet:49042 Dentinogenesis imperfecta skos:exactMatch MedDRA:10054013 Unspecified -Orphanet:49042 Dentinogenesis imperfecta skos:broadMatch ICD10:K00.5 Unspecified -Orphanet:49042 Dentinogenesis imperfecta skos:exactMatch MESH:D003811 Unspecified -Orphanet:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref OMIM:614096 Unspecified -Orphanet:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:319504 Combined oxidative phosphorylation defect type 8 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:319504 Combined oxidative phosphorylation defect type 8 skos:exactMatch OMIM:614096 Unspecified -Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome oboInOwl:hasDbXref UMLS:C1866182 Unspecified -Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome oboInOwl:hasDbXref OMIM:601812 Unspecified -Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome oboInOwl:hasDbXref ICD10:E34.8 Unspecified -Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch OMIM:601812 Unspecified -Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch UMLS:C1866182 Unspecified -Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome skos:broadMatch ICD10:E34.8 Unspecified -Orphanet:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref OMIM:614582 Unspecified -Orphanet:319509 Combined oxidative phosphorylation defect type 9 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:319509 Combined oxidative phosphorylation defect type 9 skos:exactMatch OMIM:614582 Unspecified -Orphanet:497188 Diffuse intrinsic pontine glioma oboInOwl:hasDbXref ICD10:C72.8 Unspecified -Orphanet:497188 Diffuse intrinsic pontine glioma skos:broadMatch ICD10:C72.8 Unspecified -Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref ICD10:E83.3 Unspecified -Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref OMIM:193100 Unspecified -Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C1704375 Unspecified -Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C0342642 Unspecified -Orphanet:89937 Autosomal dominant hypophosphatemic rickets skos:exactMatch UMLS:C0342642 Unspecified -Orphanet:89937 Autosomal dominant hypophosphatemic rickets skos:exactMatch UMLS:C1704375 Unspecified -Orphanet:89937 Autosomal dominant hypophosphatemic rickets skos:exactMatch OMIM:193100 Unspecified -Orphanet:89937 Autosomal dominant hypophosphatemic rickets skos:broadMatch ICD10:E83.3 Unspecified -Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref OMIM:609968 Unspecified -Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:263458 Hyperinsulinism due to INSR deficiency skos:exactMatch OMIM:609968 Unspecified -Orphanet:263458 Hyperinsulinism due to INSR deficiency skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref UMLS:C3536984 Unspecified -Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref ICD10:E83.3 Unspecified -Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref OMIM:307800 Unspecified -Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref UMLS:C0733682 Unspecified -Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref UMLS:C3540852 Unspecified -Orphanet:89936 X-linked hypophosphatemia skos:exactMatch UMLS:C0733682 Unspecified -Orphanet:89936 X-linked hypophosphatemia skos:broadMatch ICD10:E83.3 Unspecified -Orphanet:89936 X-linked hypophosphatemia skos:exactMatch UMLS:C3540852 Unspecified -Orphanet:89936 X-linked hypophosphatemia skos:exactMatch UMLS:C3536984 Unspecified -Orphanet:89936 X-linked hypophosphatemia skos:exactMatch OMIM:307800 Unspecified -Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome oboInOwl:hasDbXref OMIM:616756 Unspecified -Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome skos:exactMatch OMIM:616756 Unspecified -Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref UMLS:C0520459 Unspecified -Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref ICD10:P77 Unspecified -Orphanet:391673 Necrotizing enterocolitis skos:exactMatch UMLS:C0520459 Unspecified -Orphanet:391673 Necrotizing enterocolitis skos:exactMatch ICD10:P77 Unspecified -Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref OMIM:227050 Unspecified -Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref ICD10:D60.1 Unspecified -Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref UMLS:C0238478 Unspecified -Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref MESH:C536980 Unspecified -Orphanet:98871 Transient erythroblastopenia of childhood skos:exactMatch MESH:C536980 Unspecified -Orphanet:98871 Transient erythroblastopenia of childhood skos:exactMatch ICD10:D60.1 Unspecified -Orphanet:98871 Transient erythroblastopenia of childhood skos:exactMatch UMLS:C0238478 Unspecified -Orphanet:98871 Transient erythroblastopenia of childhood skos:exactMatch OMIM:227050 Unspecified -Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref OMIM:105600 Unspecified -Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref UMLS:C0271934 Unspecified -Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref ICD10:D64.4 Unspecified -Orphanet:98870 Congenital dyserythropoietic anemia type III skos:exactMatch UMLS:C0271934 Unspecified -Orphanet:98870 Congenital dyserythropoietic anemia type III skos:exactMatch OMIM:105600 Unspecified -Orphanet:98870 Congenital dyserythropoietic anemia type III skos:broadMatch ICD10:D64.4 Unspecified -Orphanet:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref OMIM:224100 Unspecified -Orphanet:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref ICD10:D64.4 Unspecified -Orphanet:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref UMLS:C1306589 Unspecified -Orphanet:98873 Congenital dyserythropoietic anemia type II skos:exactMatch UMLS:C1306589 Unspecified -Orphanet:98873 Congenital dyserythropoietic anemia type II skos:broadMatch ICD10:D64.4 Unspecified -Orphanet:98873 Congenital dyserythropoietic anemia type II skos:exactMatch OMIM:224100 Unspecified -Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:98872 Primary acquired pure red cell aplasia oboInOwl:hasDbXref ICD10:D60.0 Unspecified -Orphanet:98872 Primary acquired pure red cell aplasia skos:broadMatch ICD10:D60.0 Unspecified -Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C2700425 Unspecified -Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:225410 Unspecified -Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome skos:exactMatch UMLS:C2700425 Unspecified -Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome skos:exactMatch OMIM:225410 Unspecified -Orphanet:98879 Hemophilia B oboInOwl:hasDbXref OMIM:306900 Unspecified -Orphanet:98879 Hemophilia B oboInOwl:hasDbXref MESH:D002836 Unspecified -Orphanet:98879 Hemophilia B oboInOwl:hasDbXref ICD10:D67 Unspecified -Orphanet:98879 Hemophilia B oboInOwl:hasDbXref UMLS:C0008533 Unspecified -Orphanet:98879 Hemophilia B oboInOwl:hasDbXref MedDRA:10016077 Unspecified -Orphanet:98879 Hemophilia B skos:exactMatch MedDRA:10016077 Unspecified -Orphanet:98879 Hemophilia B skos:exactMatch UMLS:C0008533 Unspecified -Orphanet:98879 Hemophilia B skos:exactMatch ICD10:D67 Unspecified -Orphanet:98879 Hemophilia B skos:exactMatch MESH:D002836 Unspecified -Orphanet:98879 Hemophilia B skos:exactMatch OMIM:306900 Unspecified -Orphanet:98878 Hemophilia A oboInOwl:hasDbXref UMLS:C0019069 Unspecified -Orphanet:98878 Hemophilia A oboInOwl:hasDbXref ICD10:D66 Unspecified -Orphanet:98878 Hemophilia A oboInOwl:hasDbXref MedDRA:10016080 Unspecified -Orphanet:98878 Hemophilia A oboInOwl:hasDbXref MESH:D006467 Unspecified -Orphanet:98878 Hemophilia A oboInOwl:hasDbXref OMIM:306700 Unspecified -Orphanet:98878 Hemophilia A oboInOwl:hasDbXref UMLS:C3494187 Unspecified -Orphanet:98878 Hemophilia A skos:exactMatch OMIM:306700 Unspecified -Orphanet:98878 Hemophilia A skos:exactMatch UMLS:C3494187 Unspecified -Orphanet:98878 Hemophilia A skos:exactMatch MESH:D006467 Unspecified -Orphanet:98878 Hemophilia A skos:exactMatch UMLS:C0019069 Unspecified -Orphanet:98878 Hemophilia A skos:exactMatch ICD10:D66 Unspecified -Orphanet:98878 Hemophilia A skos:exactMatch MedDRA:10016080 Unspecified -Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref UMLS:C0085399 Unspecified -Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref ICD10:A48.8 Unspecified -Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref MESH:D016873 Unspecified -Orphanet:1902 Ehrlichiosis skos:broadMatch ICD10:A48.8 Unspecified -Orphanet:1902 Ehrlichiosis skos:exactMatch UMLS:C0085399 Unspecified -Orphanet:1902 Ehrlichiosis skos:exactMatch MESH:D016873 Unspecified -Orphanet:263455 Hyperinsulinism due to HNF4A deficiency oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:263455 Hyperinsulinism due to HNF4A deficiency skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma oboInOwl:hasDbXref OMIM:600962 Unspecified -Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma skos:exactMatch OMIM:600962 Unspecified -Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref ICD10:D48.7 Unspecified -Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref UMLS:C0039538 Unspecified -Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref MESH:D013724 Unspecified -Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref MedDRA:10043276 Unspecified -Orphanet:883 Extragonadal teratoma skos:exactMatch UMLS:C0039538 Unspecified -Orphanet:883 Extragonadal teratoma skos:exactMatch MESH:D013724 Unspecified -Orphanet:883 Extragonadal teratoma skos:broadMatch ICD10:D48.7 Unspecified -Orphanet:883 Extragonadal teratoma skos:exactMatch MedDRA:10043276 Unspecified -Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref UMLS:C0268490 Unspecified -Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref ICD10:E70.2 Unspecified -Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref MedDRA:10069462 Unspecified -Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref OMIM:276700 Unspecified -Orphanet:882 Tyrosinemia type 1 skos:exactMatch OMIM:276700 Unspecified -Orphanet:882 Tyrosinemia type 1 skos:broadMatch ICD10:E70.2 Unspecified -Orphanet:882 Tyrosinemia type 1 skos:exactMatch UMLS:C0268490 Unspecified -Orphanet:882 Tyrosinemia type 1 skos:exactMatch MedDRA:10069462 Unspecified -Orphanet:228240 Elastoderma oboInOwl:hasDbXref UMLS:C0406555 Unspecified -Orphanet:228240 Elastoderma skos:exactMatch UMLS:C0406555 Unspecified -Orphanet:363654 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref ICD10:G20 Unspecified -Orphanet:363654 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref OMIM:300911 Unspecified -Orphanet:363654 X-linked parkinsonism-spasticity syndrome skos:exactMatch OMIM:300911 Unspecified -Orphanet:363654 X-linked parkinsonism-spasticity syndrome skos:broadMatch ICD10:G20 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:606943 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref UMLS:C0271097 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:276902 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:276900 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:276904 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:605472 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:602097 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:614504 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:611383 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:601067 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:612632 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:614869 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref MESH:D052245 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref MedDRA:10063396 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:276901 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:602083 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:614990 Unspecified -Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:500004 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:602083 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:276901 Unspecified -Orphanet:886 Usher syndrome skos:exactMatch UMLS:C0271097 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:500004 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:614990 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:601067 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:602097 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:614869 Unspecified -Orphanet:886 Usher syndrome skos:exactMatch MedDRA:10063396 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:276900 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:276902 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:276904 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:606943 Unspecified -Orphanet:886 Usher syndrome skos:exactMatch MESH:D052245 Unspecified -Orphanet:886 Usher syndrome skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:612632 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:605472 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:611383 Unspecified -Orphanet:886 Usher syndrome skos:narrowMatch OMIM:614504 Unspecified -Orphanet:889 Cutaneous small vessel vasculitis oboInOwl:hasDbXref ICD10:M31.0 Unspecified -Orphanet:889 Cutaneous small vessel vasculitis oboInOwl:hasDbXref UMLS:C0151436 Unspecified -Orphanet:889 Cutaneous small vessel vasculitis skos:broadMatch ICD10:M31.0 Unspecified -Orphanet:889 Cutaneous small vessel vasculitis skos:exactMatch UMLS:C0151436 Unspecified -Orphanet:228247 Acquired pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS:C1274759 Unspecified -Orphanet:228247 Acquired pseudoxanthoma elasticum skos:exactMatch UMLS:C1274759 Unspecified -Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension oboInOwl:hasDbXref ICD10:I15.1 Unspecified -Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension oboInOwl:hasDbXref OMIM:161900 Unspecified -Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension skos:broadMatch ICD10:I15.1 Unspecified -Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension skos:exactMatch OMIM:161900 Unspecified -Orphanet:139402 Drug rash with eosinophilia and systemic symptoms oboInOwl:hasDbXref UMLS:C3541994 Unspecified -Orphanet:139402 Drug rash with eosinophilia and systemic symptoms oboInOwl:hasDbXref UMLS:C1142139 Unspecified -Orphanet:139402 Drug rash with eosinophilia and systemic symptoms oboInOwl:hasDbXref MedDRA:10058919 Unspecified -Orphanet:139402 Drug rash with eosinophilia and systemic symptoms oboInOwl:hasDbXref ICD10:T78.4 Unspecified -Orphanet:139402 Drug rash with eosinophilia and systemic symptoms skos:broadMatch ICD10:T78.4 Unspecified -Orphanet:139402 Drug rash with eosinophilia and systemic symptoms skos:exactMatch MedDRA:10058919 Unspecified -Orphanet:139402 Drug rash with eosinophilia and systemic symptoms skos:exactMatch UMLS:C1142139 Unspecified -Orphanet:139402 Drug rash with eosinophilia and systemic symptoms skos:exactMatch UMLS:C3541994 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref ICD10:H49.8 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref UMLS:C0040381 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MESH:D020333 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref UMLS:C0392060 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MESH:C531833 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MedDRA:10051526 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome skos:exactMatch MESH:C531833 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome skos:exactMatch MedDRA:10051526 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome skos:exactMatch UMLS:C0040381 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome skos:exactMatch UMLS:C0392060 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome skos:exactMatch MESH:D020333 Unspecified -Orphanet:64686 Tolosa-Hunt syndrome skos:broadMatch ICD10:H49.8 Unspecified -Orphanet:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref OMIM:611721 Unspecified -Orphanet:139406 Encephalopathy due to prosaposin deficiency skos:exactMatch OMIM:611721 Unspecified -Orphanet:139406 Encephalopathy due to prosaposin deficiency skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:263487 COG5-CDG oboInOwl:hasDbXref OMIM:613612 Unspecified -Orphanet:263487 COG5-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:263487 COG5-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:263487 COG5-CDG skos:exactMatch OMIM:613612 Unspecified -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref UMLS:C3159322 Unspecified -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref OMIM:184095 Unspecified -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type skos:exactMatch UMLS:C3159322 Unspecified -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type skos:exactMatch OMIM:184095 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:113900 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:612838 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:140400 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref UMLS:C1879286 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref ICD10:I45.8 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:604559 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:115080 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect skos:exactMatch UMLS:C1879286 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect skos:broadMatch OMIM:115080 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect skos:broadMatch ICD10:I45.8 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:604559 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect skos:exactMatch OMIM:113900 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect skos:broadMatch OMIM:612838 Unspecified -Orphanet:871 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:140400 Unspecified -Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref ICD10:C38.0 Unspecified -Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref ICD10:D15.1 Unspecified -Orphanet:874 Primary adult heart tumor skos:broadMatch ICD10:D15.1 Unspecified -Orphanet:874 Primary adult heart tumor skos:broadMatch ICD10:C38.0 Unspecified -Orphanet:873 Desmoid tumor oboInOwl:hasDbXref UMLS:C0079218 Unspecified -Orphanet:873 Desmoid tumor oboInOwl:hasDbXref ICD10:D48.1 Unspecified -Orphanet:873 Desmoid tumor oboInOwl:hasDbXref OMIM:135290 Unspecified -Orphanet:873 Desmoid tumor skos:broadMatch ICD10:D48.1 Unspecified -Orphanet:873 Desmoid tumor skos:exactMatch UMLS:C0079218 Unspecified -Orphanet:873 Desmoid tumor skos:narrowMatch OMIM:135290 Unspecified -Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref MedDRA:10048251 Unspecified -Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref OMIM:273300 Unspecified -Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref ICD10:C62.9 Unspecified -Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref UMLS:C0014145 Unspecified -Orphanet:876 Yolk sac tumor skos:exactMatch UMLS:C0014145 Unspecified -Orphanet:876 Yolk sac tumor skos:narrowMatch ICD10:C56 Unspecified -Orphanet:876 Yolk sac tumor skos:narrowMatch ICD10:C62.9 Unspecified -Orphanet:876 Yolk sac tumor skos:broadMatch OMIM:273300 Unspecified -Orphanet:876 Yolk sac tumor skos:exactMatch MedDRA:10048251 Unspecified -Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:D15.1 Unspecified -Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:C38.0 Unspecified -Orphanet:875 Primary pediatric heart tumor skos:broadMatch ICD10:D15.1 Unspecified -Orphanet:875 Primary pediatric heart tumor skos:broadMatch ICD10:C38.0 Unspecified -Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref ICD10:H20.8 Unspecified -Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref UMLS:C0016782 Unspecified -Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref MedDRA:10017406 Unspecified -Orphanet:263479 Fuchs heterochromic iridocyclitis skos:broadMatch ICD10:H20.8 Unspecified -Orphanet:263479 Fuchs heterochromic iridocyclitis skos:exactMatch MedDRA:10017406 Unspecified -Orphanet:263479 Fuchs heterochromic iridocyclitis skos:exactMatch UMLS:C0016782 Unspecified -Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection oboInOwl:hasDbXref ICD10:A31.0 Unspecified -Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection skos:exactMatch ICD10:A31.0 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:204650 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:615887 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0002452 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:130900 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104510 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104530 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:301201 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:612529 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref MESH:D000567 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:204700 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:614832 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:613211 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104500 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:301200 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616221 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617217 Unspecified -Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616270 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:617217 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:616270 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:104500 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:614832 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:613211 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:301200 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:616221 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:130900 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:104510 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:104530 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:204700 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:broadMatch ICD10:K00.5 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:615887 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:exactMatch UMLS:C0002452 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:204650 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:exactMatch MESH:D000567 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:301201 Unspecified -Orphanet:88661 Amelogenesis imperfecta skos:narrowMatch OMIM:612529 Unspecified -Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor oboInOwl:hasDbXref ICD10:I15.1 Unspecified -Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor oboInOwl:hasDbXref UMLS:C1854631 Unspecified -Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor skos:broadMatch ICD10:I15.1 Unspecified -Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor skos:exactMatch UMLS:C1854631 Unspecified -Orphanet:139417 Acute transverse myelitis oboInOwl:hasDbXref ICD10:G37.3 Unspecified -Orphanet:139417 Acute transverse myelitis oboInOwl:hasDbXref UMLS:C0270627 Unspecified -Orphanet:139417 Acute transverse myelitis skos:broadMatch ICD10:G37.3 Unspecified -Orphanet:139417 Acute transverse myelitis skos:exactMatch UMLS:C0270627 Unspecified -Orphanet:879 Tungiasis oboInOwl:hasDbXref UMLS:C0277356 Unspecified -Orphanet:879 Tungiasis oboInOwl:hasDbXref ICD10:B88.1 Unspecified -Orphanet:879 Tungiasis oboInOwl:hasDbXref MESH:D058285 Unspecified -Orphanet:879 Tungiasis skos:exactMatch MESH:D058285 Unspecified -Orphanet:879 Tungiasis skos:exactMatch ICD10:B88.1 Unspecified -Orphanet:879 Tungiasis skos:exactMatch UMLS:C0277356 Unspecified -Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome oboInOwl:hasDbXref ICD10:E34.8 Unspecified -Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome oboInOwl:hasDbXref OMIM:615381 Unspecified -Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome skos:exactMatch OMIM:615381 Unspecified -Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome skos:broadMatch ICD10:E34.8 Unspecified -Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ Unspecified -Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref OMIM:117300 Unspecified -Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref ICD10:I68.0* Unspecified -Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref OMIM:176500 Unspecified -Orphanet:439254 ITM2B amyloidosis skos:narrowMatch OMIM:117300 Unspecified -Orphanet:439254 ITM2B amyloidosis skos:narrowMatch OMIM:176500 Unspecified -Orphanet:439254 ITM2B amyloidosis skos:broadMatch ICD10:I68.0* Unspecified -Orphanet:439254 ITM2B amyloidosis skos:broadMatch ICD10:E85.4+ Unspecified -Orphanet:139411 Carney triad oboInOwl:hasDbXref OMIM:604287 Unspecified -Orphanet:139411 Carney triad oboInOwl:hasDbXref ICD10:D44.8 Unspecified -Orphanet:139411 Carney triad oboInOwl:hasDbXref UMLS:C1858592 Unspecified -Orphanet:139411 Carney triad skos:broadMatch ICD10:D44.8 Unspecified -Orphanet:139411 Carney triad skos:exactMatch UMLS:C1858592 Unspecified -Orphanet:139411 Carney triad skos:exactMatch OMIM:604287 Unspecified -Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref UMLS:C0342738 Unspecified -Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref OMIM:250620 Unspecified -Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch OMIM:250620 Unspecified -Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch UMLS:C0342738 Unspecified -Orphanet:75326 Retinal arterial tortuosity oboInOwl:hasDbXref ICD10:H35.8 Unspecified -Orphanet:75326 Retinal arterial tortuosity oboInOwl:hasDbXref OMIM:180000 Unspecified -Orphanet:75326 Retinal arterial tortuosity skos:broadMatch ICD10:H35.8 Unspecified -Orphanet:75326 Retinal arterial tortuosity skos:exactMatch OMIM:180000 Unspecified -Orphanet:97598 Congenital renal artery stenosis oboInOwl:hasDbXref UMLS:C0495523 Unspecified -Orphanet:97598 Congenital renal artery stenosis oboInOwl:hasDbXref ICD10:Q27.1 Unspecified -Orphanet:97598 Congenital renal artery stenosis skos:exactMatch ICD10:Q27.1 Unspecified -Orphanet:97598 Congenital renal artery stenosis skos:exactMatch UMLS:C0495523 Unspecified -Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref OMIM:609993 Unspecified -Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref MESH:C536064 Unspecified -Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref UMLS:C1864942 Unspecified -Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch MESH:C536064 Unspecified -Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch UMLS:C1864942 Unspecified -Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch OMIM:609993 Unspecified -Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref UMLS:C1704274 Unspecified -Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref MedDRA:10022821 Unspecified -Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref MedDRA:10053868 Unspecified -Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref UMLS:C0156372 Unspecified -Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref UMLS:C0241593 Unspecified -Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref ICD10:N85.6 Unspecified -Orphanet:137686 Asherman syndrome skos:exactMatch UMLS:C0156372 Unspecified -Orphanet:137686 Asherman syndrome skos:exactMatch UMLS:C0241593 Unspecified -Orphanet:137686 Asherman syndrome skos:exactMatch ICD10:N85.6 Unspecified -Orphanet:137686 Asherman syndrome skos:exactMatch MedDRA:10053868 Unspecified -Orphanet:137686 Asherman syndrome skos:exactMatch MedDRA:10022821 Unspecified -Orphanet:137686 Asherman syndrome skos:exactMatch UMLS:C1704274 Unspecified -Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref MESH:C537835 Unspecified -Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref UMLS:C0730294 Unspecified -Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref OMIM:136550 Unspecified -Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:75327 North Carolina macular dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:75327 North Carolina macular dystrophy skos:exactMatch OMIM:136550 Unspecified -Orphanet:75327 North Carolina macular dystrophy skos:exactMatch UMLS:C0730294 Unspecified -Orphanet:75327 North Carolina macular dystrophy skos:exactMatch MESH:C537835 Unspecified -Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref OMIM:616231 Unspecified -Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates skos:exactMatch OMIM:616231 Unspecified -Orphanet:88633 Superior limbic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 Unspecified -Orphanet:88633 Superior limbic keratoconjunctivitis oboInOwl:hasDbXref UMLS:C0339229 Unspecified -Orphanet:88633 Superior limbic keratoconjunctivitis skos:broadMatch ICD10:H16.2 Unspecified -Orphanet:88633 Superior limbic keratoconjunctivitis skos:exactMatch UMLS:C0339229 Unspecified -Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref OMIM:609060 Unspecified -Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref UMLS:C1836797 Unspecified -Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch UMLS:C1836797 Unspecified -Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch OMIM:609060 Unspecified -Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref ICD10:L90.1 Unspecified -Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref UMLS:C0406550 Unspecified -Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref ICD10:L90.2 Unspecified -Orphanet:228272 Primary anetoderma skos:exactMatch UMLS:C0406550 Unspecified -Orphanet:228272 Primary anetoderma skos:narrowMatch ICD10:L90.1 Unspecified -Orphanet:228272 Primary anetoderma skos:narrowMatch ICD10:L90.2 Unspecified -Orphanet:564178 Primary hypomagnesemia with refractory seizures and intellectual disability oboInOwl:hasDbXref ICD10:E83.4 Unspecified -Orphanet:564178 Primary hypomagnesemia with refractory seizures and intellectual disability skos:broadMatch ICD10:E83.4 Unspecified -Orphanet:898 Wagner disease oboInOwl:hasDbXref MedDRA:10063383 Unspecified -Orphanet:898 Wagner disease oboInOwl:hasDbXref MESH:C536075 Unspecified -Orphanet:898 Wagner disease oboInOwl:hasDbXref UMLS:C1840452 Unspecified -Orphanet:898 Wagner disease oboInOwl:hasDbXref UMLS:C0339540 Unspecified -Orphanet:898 Wagner disease oboInOwl:hasDbXref OMIM:143200 Unspecified -Orphanet:898 Wagner disease oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:898 Wagner disease skos:exactMatch MedDRA:10063383 Unspecified -Orphanet:898 Wagner disease skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:898 Wagner disease skos:exactMatch UMLS:C1840452 Unspecified -Orphanet:898 Wagner disease skos:exactMatch OMIM:143200 Unspecified -Orphanet:898 Wagner disease skos:exactMatch UMLS:C0339540 Unspecified -Orphanet:898 Wagner disease skos:exactMatch MESH:C536075 Unspecified -Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:277580 Unspecified -Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:613265 Unspecified -Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:613266 Unspecified -Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref UMLS:C3266898 Unspecified -Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref UMLS:C1848519 Unspecified -Orphanet:897 Waardenburg-Shah syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:897 Waardenburg-Shah syndrome skos:narrowMatch OMIM:613265 Unspecified -Orphanet:897 Waardenburg-Shah syndrome skos:exactMatch UMLS:C3266898 Unspecified -Orphanet:897 Waardenburg-Shah syndrome skos:exactMatch UMLS:C1848519 Unspecified -Orphanet:897 Waardenburg-Shah syndrome skos:narrowMatch OMIM:277580 Unspecified -Orphanet:897 Waardenburg-Shah syndrome skos:narrowMatch OMIM:613266 Unspecified -Orphanet:228277 Familial anetoderma oboInOwl:hasDbXref ICD10:L90.8 Unspecified -Orphanet:228277 Familial anetoderma skos:broadMatch ICD10:L90.8 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:618135 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:253800 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615181 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref UMLS:C0265221 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:236670 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:614643 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:614830 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:253280 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:613154 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:613150 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:616538 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:613153 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615287 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615041 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615249 Unspecified -Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref MESH:D058494 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:exactMatch MESH:D058494 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:613154 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:253280 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:613150 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:618135 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:614643 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:614830 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:615181 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:broadMatch OMIM:236670 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:253800 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:615041 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:616538 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:613153 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:exactMatch UMLS:C0265221 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:615249 Unspecified -Orphanet:899 Walker-Warburg syndrome skos:narrowMatch OMIM:615287 Unspecified -Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref UMLS:C0019156 Unspecified -Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref MESH:D006504 Unspecified -Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref ICD10:K76.5 Unspecified -Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref MedDRA:10047216 Unspecified -Orphanet:890 Hepatic veno-occlusive disease skos:exactMatch MESH:D006504 Unspecified -Orphanet:890 Hepatic veno-occlusive disease skos:exactMatch ICD10:K76.5 Unspecified -Orphanet:890 Hepatic veno-occlusive disease skos:exactMatch UMLS:C0019156 Unspecified -Orphanet:890 Hepatic veno-occlusive disease skos:exactMatch MedDRA:10047216 Unspecified -Orphanet:96253 Cushing disease oboInOwl:hasDbXref UMLS:C0221406 Unspecified -Orphanet:96253 Cushing disease oboInOwl:hasDbXref OMIM:219090 Unspecified -Orphanet:96253 Cushing disease oboInOwl:hasDbXref MESH:D047748 Unspecified -Orphanet:96253 Cushing disease oboInOwl:hasDbXref ICD10:D35.2 Unspecified -Orphanet:96253 Cushing disease oboInOwl:hasDbXref MedDRA:10035109 Unspecified -Orphanet:96253 Cushing disease oboInOwl:hasDbXref UMLS:C0010481 Unspecified -Orphanet:96253 Cushing disease oboInOwl:hasDbXref ICD10:E24.0 Unspecified -Orphanet:96253 Cushing disease skos:exactMatch MedDRA:10035109 Unspecified -Orphanet:96253 Cushing disease skos:exactMatch UMLS:C0010481 Unspecified -Orphanet:96253 Cushing disease skos:exactMatch ICD10:E24.0 Unspecified -Orphanet:96253 Cushing disease skos:exactMatch MESH:D047748 Unspecified -Orphanet:96253 Cushing disease skos:broadMatch ICD10:D35.2 Unspecified -Orphanet:96253 Cushing disease skos:exactMatch UMLS:C0221406 Unspecified -Orphanet:96253 Cushing disease skos:exactMatch OMIM:219090 Unspecified -Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref ICD10:Q85.8 Unspecified -Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref MedDRA:10047716 Unspecified -Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref UMLS:C0019562 Unspecified -Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref OMIM:193300 Unspecified -Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref MESH:D006623 Unspecified -Orphanet:892 Von Hippel-Lindau disease skos:broadMatch ICD10:Q85.8 Unspecified -Orphanet:892 Von Hippel-Lindau disease skos:exactMatch OMIM:193300 Unspecified -Orphanet:892 Von Hippel-Lindau disease skos:exactMatch MESH:D006623 Unspecified -Orphanet:892 Von Hippel-Lindau disease skos:exactMatch MedDRA:10047716 Unspecified -Orphanet:892 Von Hippel-Lindau disease skos:exactMatch UMLS:C0019562 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref UMLS:C0339539 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:613310 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:305390 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:133780 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:617572 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:616468 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:601813 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:605750 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref MESH:C536382 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref ICD10:H35.0 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref UMLS:C1851402 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy skos:exactMatch MESH:C536382 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:616468 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy skos:exactMatch UMLS:C1851402 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy skos:broadMatch ICD10:H35.0 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:605750 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:601813 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:133780 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:617572 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:305390 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy skos:exactMatch UMLS:C0339539 Unspecified -Orphanet:891 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:613310 Unspecified -Orphanet:64694 Trench fever oboInOwl:hasDbXref ICD10:A79.0 Unspecified -Orphanet:64694 Trench fever oboInOwl:hasDbXref MedDRA:10044582 Unspecified -Orphanet:64694 Trench fever oboInOwl:hasDbXref UMLS:C0040830 Unspecified -Orphanet:64694 Trench fever oboInOwl:hasDbXref MESH:D014205 Unspecified -Orphanet:64694 Trench fever skos:exactMatch MESH:D014205 Unspecified -Orphanet:64694 Trench fever skos:exactMatch MedDRA:10044582 Unspecified -Orphanet:64694 Trench fever skos:exactMatch UMLS:C0040830 Unspecified -Orphanet:64694 Trench fever skos:exactMatch ICD10:A79.0 Unspecified -Orphanet:439232 AApoAIV amyloidosis oboInOwl:hasDbXref ICD10:E85.8 Unspecified -Orphanet:439232 AApoAIV amyloidosis skos:broadMatch ICD10:E85.8 Unspecified -Orphanet:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref UMLS:C1853116 Unspecified -Orphanet:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref OMIM:610743 Unspecified -Orphanet:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref UMLS:C3683483 Unspecified -Orphanet:88644 Autosomal recessive ataxia, Beauce type skos:exactMatch OMIM:610743 Unspecified -Orphanet:88644 Autosomal recessive ataxia, Beauce type skos:exactMatch UMLS:C1853116 Unspecified -Orphanet:88644 Autosomal recessive ataxia, Beauce type skos:exactMatch UMLS:C3683483 Unspecified -Orphanet:88644 Autosomal recessive ataxia, Beauce type skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome oboInOwl:hasDbXref ICD10:E03.8 Unspecified -Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:broadMatch ICD10:E03.8 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref MESH:D000699 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref OMIM:243000 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref UMLS:C0002768 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref MESH:D009477 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref UMLS:C0020075 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy skos:exactMatch OMIM:243000 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy skos:exactMatch MESH:D000699 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy skos:exactMatch UMLS:C0002768 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy skos:exactMatch UMLS:C0020075 Unspecified -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy skos:exactMatch MESH:D009477 Unspecified -Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 oboInOwl:hasDbXref OMIM:615352 Unspecified -Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 skos:exactMatch OMIM:615352 Unspecified -Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:263494 DPM3-CDG oboInOwl:hasDbXref UMLS:C2752007 Unspecified -Orphanet:263494 DPM3-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:263494 DPM3-CDG oboInOwl:hasDbXref OMIM:612937 Unspecified -Orphanet:263494 DPM3-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:263494 DPM3-CDG skos:exactMatch OMIM:612937 Unspecified -Orphanet:263494 DPM3-CDG skos:exactMatch UMLS:C2752007 Unspecified -Orphanet:64692 Oroya fever oboInOwl:hasDbXref UMLS:C0348974 Unspecified -Orphanet:64692 Oroya fever oboInOwl:hasDbXref UMLS:C0029307 Unspecified -Orphanet:64692 Oroya fever oboInOwl:hasDbXref MESH:D001474 Unspecified -Orphanet:64692 Oroya fever oboInOwl:hasDbXref ICD10:A44.0 Unspecified -Orphanet:64692 Oroya fever skos:exactMatch ICD10:A44.0 Unspecified -Orphanet:64692 Oroya fever skos:exactMatch MESH:D001474 Unspecified -Orphanet:64692 Oroya fever skos:exactMatch UMLS:C0029307 Unspecified -Orphanet:64692 Oroya fever skos:exactMatch UMLS:C0348974 Unspecified -Orphanet:314684 Primary bone lymphoma oboInOwl:hasDbXref ICD10:C85.7 Unspecified -Orphanet:314684 Primary bone lymphoma skos:broadMatch ICD10:C85.7 Unspecified -Orphanet:228285 Acquired cutis laxa oboInOwl:hasDbXref UMLS:C0406549 Unspecified -Orphanet:228285 Acquired cutis laxa skos:exactMatch UMLS:C0406549 Unspecified -Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref OMIM:184500 Unspecified -Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref ICD10:L72.2 Unspecified -Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref UMLS:C3671377 Unspecified -Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref UMLS:C0259771 Unspecified -Orphanet:841 Sebocystomatosis skos:exactMatch UMLS:C0259771 Unspecified -Orphanet:841 Sebocystomatosis skos:exactMatch UMLS:C3671377 Unspecified -Orphanet:841 Sebocystomatosis skos:exactMatch ICD10:L72.2 Unspecified -Orphanet:841 Sebocystomatosis skos:exactMatch OMIM:184500 Unspecified -Orphanet:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref ICD10:D23.9 Unspecified -Orphanet:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref MedDRA:10042926 Unspecified -Orphanet:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref UMLS:C0406803 Unspecified -Orphanet:840 Syringocystadenoma papilliferum skos:broadMatch ICD10:D23.9 Unspecified -Orphanet:840 Syringocystadenoma papilliferum skos:exactMatch MedDRA:10042926 Unspecified -Orphanet:840 Syringocystadenoma papilliferum skos:exactMatch UMLS:C0406803 Unspecified -Orphanet:75381 Cystoid macular dystrophy oboInOwl:hasDbXref OMIM:153880 Unspecified -Orphanet:75381 Cystoid macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:75381 Cystoid macular dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:75381 Cystoid macular dystrophy skos:exactMatch OMIM:153880 Unspecified -Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref ICD10:C62.9 Unspecified -Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref OMIM:273300 Unspecified -Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref UMLS:C0036631 Unspecified -Orphanet:842 Testicular seminomatous germ cell tumor skos:exactMatch UMLS:C0036631 Unspecified -Orphanet:842 Testicular seminomatous germ cell tumor skos:broadMatch OMIM:273300 Unspecified -Orphanet:842 Testicular seminomatous germ cell tumor skos:broadMatch ICD10:C62.9 Unspecified -Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref UMLS:C1848922 Unspecified -Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref MESH:D013661 Unspecified -Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref ICD10:E75.0 Unspecified -Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref OMIM:272800 Unspecified -Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref UMLS:C0039373 Unspecified -Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref MedDRA:10043147 Unspecified -Orphanet:845 Tay-Sachs disease skos:broadMatch ICD10:E75.0 Unspecified -Orphanet:845 Tay-Sachs disease skos:exactMatch OMIM:272800 Unspecified -Orphanet:845 Tay-Sachs disease skos:exactMatch UMLS:C0039373 Unspecified -Orphanet:845 Tay-Sachs disease skos:exactMatch MedDRA:10043147 Unspecified -Orphanet:845 Tay-Sachs disease skos:exactMatch UMLS:C1848922 Unspecified -Orphanet:845 Tay-Sachs disease skos:exactMatch MESH:D013661 Unspecified -Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref OMIM:108950 Unspecified -Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ICD10:I45.6 Unspecified -Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref UMLS:C1862387 Unspecified -Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref MedDRA:10024984 Unspecified -Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref UMLS:C0024054 Unspecified -Orphanet:844 Lown-Ganong-Levine syndrome skos:exactMatch UMLS:C1862387 Unspecified -Orphanet:844 Lown-Ganong-Levine syndrome skos:exactMatch OMIM:108950 Unspecified -Orphanet:844 Lown-Ganong-Levine syndrome skos:exactMatch MedDRA:10024984 Unspecified -Orphanet:844 Lown-Ganong-Levine syndrome skos:exactMatch UMLS:C0024054 Unspecified -Orphanet:844 Lown-Ganong-Levine syndrome skos:broadMatch ICD10:I45.6 Unspecified -Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency oboInOwl:hasDbXref ICD10:D70 Unspecified -Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:broadMatch ICD10:D70 Unspecified -Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref ICD10:G40.8 Unspecified -Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref UMLS:C1856929 Unspecified -Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref OMIM:226850 Unspecified -Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref MESH:C535497 Unspecified -Orphanet:1951 Epilepsy-telangiectasia syndrome skos:exactMatch MESH:C535497 Unspecified -Orphanet:1951 Epilepsy-telangiectasia syndrome skos:exactMatch OMIM:226850 Unspecified -Orphanet:1951 Epilepsy-telangiectasia syndrome skos:broadMatch ICD10:G40.8 Unspecified -Orphanet:1951 Epilepsy-telangiectasia syndrome skos:exactMatch UMLS:C1856929 Unspecified -Orphanet:314689 Combined immunodeficiency due to STK4 deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:314689 Combined immunodeficiency due to STK4 deficiency oboInOwl:hasDbXref OMIM:614868 Unspecified -Orphanet:314689 Combined immunodeficiency due to STK4 deficiency skos:exactMatch OMIM:614868 Unspecified -Orphanet:314689 Combined immunodeficiency due to STK4 deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:440221 Congenital oculomotor nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 Unspecified -Orphanet:440221 Congenital oculomotor nerve palsy skos:broadMatch ICD10:Q07.8 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref MESH:C535514 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref MESH:C535738 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref OMIM:133190 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref UMLS:C1851481 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref UMLS:C2930921 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 skos:exactMatch OMIM:133190 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 skos:exactMatch MESH:C535738 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 skos:exactMatch MESH:C535514 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 skos:exactMatch UMLS:C2930921 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 skos:exactMatch UMLS:C1851481 Unspecified -Orphanet:1955 Spinocerebellar ataxia type 34 skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:139447 Progressive cavitating leukoencephalopathy oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:139447 Progressive cavitating leukoencephalopathy skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref UMLS:C1856898 Unspecified -Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref MESH:C535513 Unspecified -Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref OMIM:227090 Unspecified -Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:1954 Congenital lethal erythroderma skos:exactMatch MESH:C535513 Unspecified -Orphanet:1954 Congenital lethal erythroderma skos:exactMatch OMIM:227090 Unspecified -Orphanet:1954 Congenital lethal erythroderma skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:1954 Congenital lethal erythroderma skos:exactMatch UMLS:C1856898 Unspecified -Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome oboInOwl:hasDbXref OMIM:300864 Unspecified -Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome skos:exactMatch OMIM:300864 Unspecified -Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:1959 Evans syndrome oboInOwl:hasDbXref ICD10:D69.3 Unspecified -Orphanet:1959 Evans syndrome oboInOwl:hasDbXref MedDRA:10053873 Unspecified -Orphanet:1959 Evans syndrome oboInOwl:hasDbXref UMLS:C0272126 Unspecified -Orphanet:1959 Evans syndrome skos:exactMatch MedDRA:10053873 Unspecified -Orphanet:1959 Evans syndrome skos:exactMatch UMLS:C0272126 Unspecified -Orphanet:1959 Evans syndrome skos:broadMatch ICD10:D69.3 Unspecified -Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type oboInOwl:hasDbXref OMIM:300863 Unspecified -Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch OMIM:300863 Unspecified -Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref UMLS:C0206717 Unspecified -Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref ICD10:C30.0 Unspecified -Orphanet:1957 Esthesioneuroblastoma skos:broadMatch ICD10:C30.0 Unspecified -Orphanet:1957 Esthesioneuroblastoma skos:exactMatch UMLS:C0206717 Unspecified -Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref ICD10:D56.0 Unspecified -Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref MESH:D017085 Unspecified -Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref UMLS:C1456873 Unspecified -Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref UMLS:C0002312 Unspecified -Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref MedDRA:10043390 Unspecified -Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref OMIM:604131 Unspecified -Orphanet:846 Alpha-thalassemia skos:exactMatch OMIM:604131 Unspecified -Orphanet:846 Alpha-thalassemia skos:exactMatch MedDRA:10043390 Unspecified -Orphanet:846 Alpha-thalassemia skos:exactMatch UMLS:C0002312 Unspecified -Orphanet:846 Alpha-thalassemia skos:exactMatch UMLS:C1456873 Unspecified -Orphanet:846 Alpha-thalassemia skos:exactMatch ICD10:D56.0 Unspecified -Orphanet:846 Alpha-thalassemia skos:exactMatch MESH:D017085 Unspecified -Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref OMIM:619267 Unspecified -Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref ICD10:D69.1 Unspecified -Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref UMLS:C0040015 Unspecified -Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref OMIM:273800 Unspecified -Orphanet:849 Glanzmann thrombasthenia skos:narrowMatch OMIM:273800 Unspecified -Orphanet:849 Glanzmann thrombasthenia skos:exactMatch UMLS:C0040015 Unspecified -Orphanet:849 Glanzmann thrombasthenia skos:narrowMatch OMIM:619267 Unspecified -Orphanet:849 Glanzmann thrombasthenia skos:broadMatch ICD10:D69.1 Unspecified -Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref ICD10:D56.1 Unspecified -Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref MESH:D017086 Unspecified -Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref MedDRA:10043391 Unspecified -Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref UMLS:C0005283 Unspecified -Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref OMIM:613985 Unspecified -Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref OMIM:603902 Unspecified -Orphanet:848 Beta-thalassemia skos:exactMatch MedDRA:10043391 Unspecified -Orphanet:848 Beta-thalassemia skos:exactMatch UMLS:C0005283 Unspecified -Orphanet:848 Beta-thalassemia skos:narrowMatch OMIM:603902 Unspecified -Orphanet:848 Beta-thalassemia skos:exactMatch MESH:D017086 Unspecified -Orphanet:848 Beta-thalassemia skos:exactMatch ICD10:D56.1 Unspecified -Orphanet:848 Beta-thalassemia skos:narrowMatch OMIM:613985 Unspecified -Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 Unspecified -Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome skos:broadMatch ICD10:E34.8 Unspecified -Orphanet:363611 CTCF-related neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:363611 CTCF-related neurodevelopmental disorder oboInOwl:hasDbXref OMIM:615502 Unspecified -Orphanet:363611 CTCF-related neurodevelopmental disorder skos:exactMatch OMIM:615502 Unspecified -Orphanet:363611 CTCF-related neurodevelopmental disorder skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:453533 Polyendocrine-polyneuropathy syndrome oboInOwl:hasDbXref ICD10:E34.8 Unspecified -Orphanet:453533 Polyendocrine-polyneuropathy syndrome oboInOwl:hasDbXref OMIM:616113 Unspecified -Orphanet:453533 Polyendocrine-polyneuropathy syndrome skos:exactMatch OMIM:616113 Unspecified -Orphanet:453533 Polyendocrine-polyneuropathy syndrome skos:broadMatch ICD10:E34.8 Unspecified -Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref OMIM:617899 Unspecified -Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref OMIM:612438 Unspecified -Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum skos:narrowMatch OMIM:617899 Unspecified -Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum skos:narrowMatch OMIM:612438 Unspecified -Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:617174 Unspecified -Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268347 Unspecified -Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130080 Unspecified -Orphanet:75392 Periodontal Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:75392 Periodontal Ehlers-Danlos syndrome skos:narrowMatch OMIM:617174 Unspecified -Orphanet:75392 Periodontal Ehlers-Danlos syndrome skos:exactMatch UMLS:C0268347 Unspecified -Orphanet:75392 Periodontal Ehlers-Danlos syndrome skos:exactMatch OMIM:130080 Unspecified -Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oboInOwl:hasDbXref OMIM:609981 Unspecified -Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch OMIM:609981 Unspecified -Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref OMIM:245050 Unspecified -Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref UMLS:C0342792 Unspecified -Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency skos:exactMatch UMLS:C0342792 Unspecified -Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency skos:exactMatch OMIM:245050 Unspecified -Orphanet:831 Congenital cervical spinal stenosis oboInOwl:hasDbXref ICD10:Q06.8 Unspecified -Orphanet:831 Congenital cervical spinal stenosis skos:broadMatch ICD10:Q06.8 Unspecified -Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref UMLS:C0342853 Unspecified -Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref MedDRA:10067529 Unspecified -Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref OMIM:269920 Unspecified -Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref MESH:C538523 Unspecified -Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref UMLS:C2931872 Unspecified -Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref OMIM:604369 Unspecified -Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref MedDRA:10067531 Unspecified -Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:834 Free sialic acid storage disease skos:exactMatch MedDRA:10067531 Unspecified -Orphanet:834 Free sialic acid storage disease skos:exactMatch UMLS:C2931872 Unspecified -Orphanet:834 Free sialic acid storage disease skos:exactMatch MESH:C538523 Unspecified -Orphanet:834 Free sialic acid storage disease skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:834 Free sialic acid storage disease skos:exactMatch MedDRA:10067529 Unspecified -Orphanet:834 Free sialic acid storage disease skos:narrowMatch OMIM:604369 Unspecified -Orphanet:834 Free sialic acid storage disease skos:exactMatch UMLS:C0342853 Unspecified -Orphanet:834 Free sialic acid storage disease skos:narrowMatch OMIM:269920 Unspecified -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:252150 Unspecified -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:252160 Unspecified -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref ICD10:E72.1 Unspecified -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:272300 Unspecified -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:615501 Unspecified -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:252150 Unspecified -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:252160 Unspecified -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:272300 Unspecified -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:615501 Unspecified -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency skos:broadMatch ICD10:E72.1 Unspecified -Orphanet:440233 Congenital abducens nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 Unspecified -Orphanet:440233 Congenital abducens nerve palsy skos:broadMatch ICD10:Q07.8 Unspecified -Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:616099 Unspecified -Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome skos:exactMatch OMIM:616099 Unspecified -Orphanet:163971 X-linked intellectual disability, Cilliers type oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:163971 X-linked intellectual disability, Cilliers type skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref OMIM:606893 Unspecified -Orphanet:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref UMLS:C1847197 Unspecified -Orphanet:140436 Primary intraosseous venous malformation skos:exactMatch UMLS:C1847197 Unspecified -Orphanet:140436 Primary intraosseous venous malformation skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:140436 Primary intraosseous venous malformation skos:exactMatch OMIM:606893 Unspecified -Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref OMIM:300712 Unspecified -Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch OMIM:300712 Unspecified -Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:838 Susac syndrome oboInOwl:hasDbXref MedDRA:10071573 Unspecified -Orphanet:838 Susac syndrome oboInOwl:hasDbXref MESH:D055955 Unspecified -Orphanet:838 Susac syndrome oboInOwl:hasDbXref ICD10:I67.7 Unspecified -Orphanet:838 Susac syndrome oboInOwl:hasDbXref UMLS:C2717757 Unspecified -Orphanet:838 Susac syndrome skos:exactMatch MESH:D055955 Unspecified -Orphanet:838 Susac syndrome skos:exactMatch UMLS:C2717757 Unspecified -Orphanet:838 Susac syndrome skos:broadMatch ICD10:I67.7 Unspecified -Orphanet:838 Susac syndrome skos:exactMatch MedDRA:10071573 Unspecified -Orphanet:423717 Cutaneous larva migrans oboInOwl:hasDbXref ICD10:B76.9 Unspecified -Orphanet:423717 Cutaneous larva migrans oboInOwl:hasDbXref UMLS:C0546999 Unspecified -Orphanet:423717 Cutaneous larva migrans skos:exactMatch UMLS:C0546999 Unspecified -Orphanet:423717 Cutaneous larva migrans skos:broadMatch ICD10:B76.9 Unspecified -Orphanet:139455 Autosomal recessive bestrophinopathy oboInOwl:hasDbXref OMIM:611809 Unspecified -Orphanet:139455 Autosomal recessive bestrophinopathy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:139455 Autosomal recessive bestrophinopathy skos:exactMatch OMIM:611809 Unspecified -Orphanet:139455 Autosomal recessive bestrophinopathy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref MESH:C535761 Unspecified -Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref MedDRA:10060740 Unspecified -Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref ICD10:N04.8 Unspecified -Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref UMLS:C0403399 Unspecified -Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref OMIM:256300 Unspecified -Orphanet:839 Congenital nephrotic syndrome, Finnish type skos:exactMatch UMLS:C0403399 Unspecified -Orphanet:839 Congenital nephrotic syndrome, Finnish type skos:exactMatch OMIM:256300 Unspecified -Orphanet:839 Congenital nephrotic syndrome, Finnish type skos:broadMatch ICD10:N04.8 Unspecified -Orphanet:839 Congenital nephrotic syndrome, Finnish type skos:exactMatch MESH:C535761 Unspecified -Orphanet:839 Congenital nephrotic syndrome, Finnish type skos:exactMatch MedDRA:10060740 Unspecified -Orphanet:863 Trichinellosis oboInOwl:hasDbXref UMLS:C0040896 Unspecified -Orphanet:863 Trichinellosis oboInOwl:hasDbXref ICD10:B75 Unspecified -Orphanet:863 Trichinellosis oboInOwl:hasDbXref MESH:D014235 Unspecified -Orphanet:863 Trichinellosis oboInOwl:hasDbXref MedDRA:10044608 Unspecified -Orphanet:863 Trichinellosis skos:exactMatch MESH:D014235 Unspecified -Orphanet:863 Trichinellosis skos:exactMatch MedDRA:10044608 Unspecified -Orphanet:863 Trichinellosis skos:exactMatch UMLS:C0040896 Unspecified -Orphanet:863 Trichinellosis skos:exactMatch ICD10:B75 Unspecified -Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref OMIM:615658 Unspecified -Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:431329 Autosomal recessive spastic paraplegia type 57 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:431329 Autosomal recessive spastic paraplegia type 57 skos:exactMatch OMIM:615658 Unspecified -Orphanet:864 Trichofolliculoma oboInOwl:hasDbXref MESH:C536553 Unspecified -Orphanet:864 Trichofolliculoma oboInOwl:hasDbXref UMLS:C0334262 Unspecified -Orphanet:864 Trichofolliculoma oboInOwl:hasDbXref MedDRA:10044611 Unspecified -Orphanet:864 Trichofolliculoma skos:exactMatch UMLS:C0334262 Unspecified -Orphanet:864 Trichofolliculoma skos:exactMatch MedDRA:10044611 Unspecified -Orphanet:864 Trichofolliculoma skos:exactMatch MESH:C536553 Unspecified -Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref OMIM:612287 Unspecified -Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref ICD10:N25.8 Unspecified -Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref OMIM:612286 Unspecified -Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:narrowMatch OMIM:612287 Unspecified -Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:broadMatch ICD10:N25.8 Unspecified -Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:narrowMatch OMIM:612286 Unspecified -Orphanet:139426 Perioral myoclonia with absences oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:139426 Perioral myoclonia with absences skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref OMIM:300607 Unspecified -Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref UMLS:C1845102 Unspecified -Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.8 Unspecified -Orphanet:163985 Hyperekplexia-epilepsy syndrome skos:exactMatch UMLS:C1845102 Unspecified -Orphanet:163985 Hyperekplexia-epilepsy syndrome skos:exactMatch OMIM:300607 Unspecified -Orphanet:163985 Hyperekplexia-epilepsy syndrome skos:broadMatch ICD10:G25.8 Unspecified -Orphanet:411712 Maternal riboflavin deficiency oboInOwl:hasDbXref ICD10:P00.4 Unspecified -Orphanet:411712 Maternal riboflavin deficiency oboInOwl:hasDbXref OMIM:615026 Unspecified -Orphanet:411712 Maternal riboflavin deficiency skos:broadMatch ICD10:P00.4 Unspecified -Orphanet:411712 Maternal riboflavin deficiency skos:exactMatch OMIM:615026 Unspecified -Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref OMIM:233805 Unspecified -Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref UMLS:C2931279 Unspecified -Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref UMLS:C1856243 Unspecified -Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency skos:exactMatch UMLS:C2931279 Unspecified -Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency skos:exactMatch OMIM:233805 Unspecified -Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency skos:exactMatch UMLS:C1856243 Unspecified -Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:869 Triple A syndrome oboInOwl:hasDbXref OMIM:231550 Unspecified -Orphanet:869 Triple A syndrome oboInOwl:hasDbXref MESH:C536008 Unspecified -Orphanet:869 Triple A syndrome oboInOwl:hasDbXref OMIM:615510 Unspecified -Orphanet:869 Triple A syndrome oboInOwl:hasDbXref UMLS:C0271742 Unspecified -Orphanet:869 Triple A syndrome oboInOwl:hasDbXref ICD10:E27.4 Unspecified -Orphanet:869 Triple A syndrome oboInOwl:hasDbXref UMLS:C2931084 Unspecified -Orphanet:869 Triple A syndrome oboInOwl:hasDbXref MESH:C536009 Unspecified -Orphanet:869 Triple A syndrome skos:exactMatch UMLS:C2931084 Unspecified -Orphanet:869 Triple A syndrome skos:exactMatch MESH:C536009 Unspecified -Orphanet:869 Triple A syndrome skos:exactMatch UMLS:C0271742 Unspecified -Orphanet:869 Triple A syndrome skos:narrowMatch OMIM:615510 Unspecified -Orphanet:869 Triple A syndrome skos:exactMatch MESH:C536008 Unspecified -Orphanet:869 Triple A syndrome skos:broadMatch ICD10:E27.4 Unspecified -Orphanet:869 Triple A syndrome skos:exactMatch OMIM:231550 Unspecified -Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref UMLS:C0398562 Unspecified -Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 Unspecified -Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref UMLS:C1860808 Unspecified -Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref OMIM:615512 Unspecified -Orphanet:868 Triose phosphate-isomerase deficiency skos:exactMatch OMIM:615512 Unspecified -Orphanet:868 Triose phosphate-isomerase deficiency skos:exactMatch UMLS:C1860808 Unspecified -Orphanet:868 Triose phosphate-isomerase deficiency skos:broadMatch ICD10:D55.2 Unspecified -Orphanet:868 Triose phosphate-isomerase deficiency skos:exactMatch UMLS:C0398562 Unspecified -Orphanet:454887 Corticobasal syndrome oboInOwl:hasDbXref ICD10:G31.0 Unspecified -Orphanet:454887 Corticobasal syndrome skos:broadMatch ICD10:G31.0 Unspecified -Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref OMIM:600790 Unspecified -Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref MESH:C535356 Unspecified -Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref UMLS:C1833321 Unspecified -Orphanet:75373 Progressive bifocal chorioretinal atrophy skos:exactMatch MESH:C535356 Unspecified -Orphanet:75373 Progressive bifocal chorioretinal atrophy skos:exactMatch UMLS:C1833321 Unspecified -Orphanet:75373 Progressive bifocal chorioretinal atrophy skos:exactMatch OMIM:600790 Unspecified -Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213837 Malignant germ cell tumor of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:213837 Malignant germ cell tumor of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:213837 Malignant germ cell tumor of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref UMLS:C1861178 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref MESH:C538617 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref OMIM:188025 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref UMLS:C1956093 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref OMIM:617443 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia skos:exactMatch UMLS:C1956093 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia skos:narrowMatch OMIM:617443 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia skos:exactMatch OMIM:188025 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia skos:exactMatch MESH:C538617 Unspecified -Orphanet:851 Paris-Trousseau thrombocytopenia skos:exactMatch UMLS:C1861178 Unspecified -Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia oboInOwl:hasDbXref UMLS:C3854603 Unspecified -Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia oboInOwl:hasDbXref UMLS:C3853779 Unspecified -Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia oboInOwl:hasDbXref ICD10:P61.0 Unspecified -Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia skos:exactMatch UMLS:C3853779 Unspecified -Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia skos:broadMatch ICD10:P61.0 Unspecified -Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia skos:exactMatch UMLS:C3854603 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:615007 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:615483 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:616413 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:618824 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref UMLS:C0393590 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref ICD10:G23.8 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref MedDRA:10059626 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:213600 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis skos:exactMatch UMLS:C0393590 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis skos:broadMatch ICD10:G23.8 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis skos:exactMatch MedDRA:10059626 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:615007 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:615483 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:616413 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:618824 Unspecified -Orphanet:1980 Bilateral striopallidodentate calcinosis skos:exactMatch OMIM:213600 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:613105 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref UMLS:C1536451 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:613144 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:215500 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref MESH:C535358 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref ICD10:H31.2 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy skos:exactMatch MESH:C535358 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy skos:narrowMatch OMIM:613105 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy skos:exactMatch UMLS:C1536451 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy skos:exactMatch OMIM:215500 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy skos:narrowMatch OMIM:613144 Unspecified -Orphanet:75377 Central areolar choroidal dystrophy skos:broadMatch ICD10:H31.2 Unspecified -Orphanet:75376 Familial drusen oboInOwl:hasDbXref UMLS:C1852021 Unspecified -Orphanet:75376 Familial drusen oboInOwl:hasDbXref OMIM:126600 Unspecified -Orphanet:75376 Familial drusen oboInOwl:hasDbXref OMIM:126700 Unspecified -Orphanet:75376 Familial drusen oboInOwl:hasDbXref UMLS:C1832174 Unspecified -Orphanet:75376 Familial drusen oboInOwl:hasDbXref UMLS:C1852020 Unspecified -Orphanet:75376 Familial drusen oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:75376 Familial drusen skos:exactMatch UMLS:C1832174 Unspecified -Orphanet:75376 Familial drusen skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:75376 Familial drusen skos:exactMatch UMLS:C1852020 Unspecified -Orphanet:75376 Familial drusen skos:narrowMatch OMIM:126700 Unspecified -Orphanet:75376 Familial drusen skos:exactMatch UMLS:C1852021 Unspecified -Orphanet:75376 Familial drusen skos:exactMatch OMIM:126600 Unspecified -Orphanet:75374 Bradyopsia oboInOwl:hasDbXref OMIM:608415 Unspecified -Orphanet:75374 Bradyopsia oboInOwl:hasDbXref ICD10:H53.8 Unspecified -Orphanet:75374 Bradyopsia skos:broadMatch ICD10:H53.8 Unspecified -Orphanet:75374 Bradyopsia skos:exactMatch OMIM:608415 Unspecified -Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref UMLS:C0311284 Unspecified -Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref MedDRA:10070595 Unspecified -Orphanet:139436 Multicentric reticulohistiocytosis skos:exactMatch MedDRA:10070595 Unspecified -Orphanet:139436 Multicentric reticulohistiocytosis skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:139436 Multicentric reticulohistiocytosis skos:exactMatch UMLS:C0311284 Unspecified -Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref UMLS:C2677590 Unspecified -Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref OMIM:612015 Unspecified -Orphanet:244310 RFT1-CDG skos:exactMatch OMIM:612015 Unspecified -Orphanet:244310 RFT1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:244310 RFT1-CDG skos:exactMatch UMLS:C2677590 Unspecified -Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref UMLS:C0040560 Unspecified -Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref MESH:D014125 Unspecified -Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref ICD10:P37.1 Unspecified -Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref MedDRA:10010652 Unspecified -Orphanet:858 Congenital toxoplasmosis skos:exactMatch MESH:D014125 Unspecified -Orphanet:858 Congenital toxoplasmosis skos:exactMatch MedDRA:10010652 Unspecified -Orphanet:858 Congenital toxoplasmosis skos:exactMatch ICD10:P37.1 Unspecified -Orphanet:858 Congenital toxoplasmosis skos:exactMatch UMLS:C0040560 Unspecified -Orphanet:513436 Autosomal recessive spastic paraplegia type 78 oboInOwl:hasDbXref OMIM:617225 Unspecified -Orphanet:513436 Autosomal recessive spastic paraplegia type 78 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:513436 Autosomal recessive spastic paraplegia type 78 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:513436 Autosomal recessive spastic paraplegia type 78 skos:exactMatch OMIM:617225 Unspecified -Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref UMLS:C0342701 Unspecified -Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref ICD10:D51.2 Unspecified -Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref OMIM:275350 Unspecified -Orphanet:859 Transcobalamin deficiency skos:exactMatch UMLS:C0342701 Unspecified -Orphanet:859 Transcobalamin deficiency skos:broadMatch ICD10:D51.2 Unspecified -Orphanet:859 Transcobalamin deficiency skos:exactMatch OMIM:275350 Unspecified -Orphanet:325345 46,XY ovotesticular disorder of sex development oboInOwl:hasDbXref ICD10:Q56.0 Unspecified -Orphanet:325345 46,XY ovotesticular disorder of sex development skos:broadMatch ICD10:Q56.0 Unspecified -Orphanet:139431 Jeavons syndrome oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:139431 Jeavons syndrome skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213833 Glassy cell carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:213833 Glassy cell carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:213833 Glassy cell carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction oboInOwl:hasDbXref OMIM:618768 Unspecified -Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction skos:exactMatch OMIM:618768 Unspecified -Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:254379 Linear lichen planus oboInOwl:hasDbXref ICD10:L43.8 Unspecified -Orphanet:254379 Linear lichen planus oboInOwl:hasDbXref UMLS:C0023650 Unspecified -Orphanet:254379 Linear lichen planus skos:broadMatch ICD10:L43.8 Unspecified -Orphanet:254379 Linear lichen planus skos:exactMatch UMLS:C0023650 Unspecified -Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref ICD10:G31.1 Unspecified -Orphanet:54247 Posterior cortical atrophy skos:broadMatch ICD10:G31.1 Unspecified -Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref UMLS:C1835672 Unspecified -Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref MESH:C536152 Unspecified -Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref OMIM:148350 Unspecified -Orphanet:2202 Palmoplantar keratoderma-deafness syndrome skos:exactMatch OMIM:148350 Unspecified -Orphanet:2202 Palmoplantar keratoderma-deafness syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:2202 Palmoplantar keratoderma-deafness syndrome skos:exactMatch UMLS:C1835672 Unspecified -Orphanet:2202 Palmoplantar keratoderma-deafness syndrome skos:exactMatch MESH:C536152 Unspecified -Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref ICD10:E72.3 Unspecified -Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref OMIM:238700 Unspecified -Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref UMLS:C0936256 Unspecified -Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref UMLS:C0268553 Unspecified -Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref OMIM:238710 Unspecified -Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref MESH:D020167 Unspecified -Orphanet:2203 Hyperlysinemia skos:narrowMatch OMIM:238710 Unspecified -Orphanet:2203 Hyperlysinemia skos:exactMatch OMIM:238700 Unspecified -Orphanet:2203 Hyperlysinemia skos:exactMatch UMLS:C0936256 Unspecified -Orphanet:2203 Hyperlysinemia skos:exactMatch MESH:D020167 Unspecified -Orphanet:2203 Hyperlysinemia skos:exactMatch UMLS:C0268553 Unspecified -Orphanet:2203 Hyperlysinemia skos:broadMatch ICD10:E72.3 Unspecified -Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome oboInOwl:hasDbXref ICD10:E13 Unspecified -Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:broadMatch ICD10:E13 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref ICD10:C43.9 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref UMLS:C1838547 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref OMIM:606719 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref UMLS:C0013403 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref UMLS:C0205747 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref OMIM:155600 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref UMLS:C2314896 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome skos:exactMatch UMLS:C0013403 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome skos:exactMatch UMLS:C2314896 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome skos:narrowMatch OMIM:155600 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome skos:exactMatch UMLS:C0205747 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome skos:narrowMatch OMIM:606719 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome skos:exactMatch UMLS:C1838547 Unspecified -Orphanet:404560 Familial atypical multiple mole melanoma syndrome skos:broadMatch ICD10:C43.9 Unspecified -Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref OMIM:148730 Unspecified -Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref UMLS:C1835650 Unspecified -Orphanet:2200 Focal palmoplantar and gingival keratoderma skos:exactMatch UMLS:C1835650 Unspecified -Orphanet:2200 Focal palmoplantar and gingival keratoderma skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:2200 Focal palmoplantar and gingival keratoderma skos:exactMatch OMIM:148730 Unspecified -Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref MESH:C536153 Unspecified -Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref UMLS:C1835671 Unspecified -Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref UMLS:C2931828 Unspecified -Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref OMIM:148360 Unspecified -Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome skos:exactMatch UMLS:C1835671 Unspecified -Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome skos:broadMatch OMIM:148360 Unspecified -Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome skos:exactMatch MESH:C536153 Unspecified -Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome skos:exactMatch UMLS:C2931828 Unspecified -Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency oboInOwl:hasDbXref OMIM:616100 Unspecified -Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:exactMatch OMIM:616100 Unspecified -Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref ICD10:E66.8 Unspecified -Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:broadMatch ICD10:E66.8 Unspecified -Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.7 Unspecified -Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.1 Unspecified -Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.0 Unspecified -Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.2 Unspecified -Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.8 Unspecified -Orphanet:457095 Actinomycosis skos:narrowMatch ICD10:A42.7 Unspecified -Orphanet:457095 Actinomycosis skos:narrowMatch ICD10:A42.1 Unspecified -Orphanet:457095 Actinomycosis skos:narrowMatch ICD10:A42.8 Unspecified -Orphanet:457095 Actinomycosis skos:narrowMatch ICD10:A42.2 Unspecified -Orphanet:457095 Actinomycosis skos:narrowMatch ICD10:A42.0 Unspecified -Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 Unspecified -Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616083 Unspecified -Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616078 Unspecified -Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:narrowMatch OMIM:616078 Unspecified -Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:narrowMatch OMIM:616083 Unspecified -Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:broadMatch ICD10:Q87.0 Unspecified -Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency oboInOwl:hasDbXref OMIM:615028 Unspecified -Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency skos:exactMatch OMIM:615028 Unspecified -Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref ICD10:L98.6 Unspecified -Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref UMLS:C0580181 Unspecified -Orphanet:33314 Jessner lymphocytic infiltration of the skin skos:exactMatch UMLS:C0580181 Unspecified -Orphanet:33314 Jessner lymphocytic infiltration of the skin skos:broadMatch ICD10:L98.6 Unspecified -Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref OMIM:602541 Unspecified -Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C1865233 Unspecified -Orphanet:280671 Megaconial congenital muscular dystrophy skos:exactMatch OMIM:602541 Unspecified -Orphanet:280671 Megaconial congenital muscular dystrophy skos:exactMatch UMLS:C1865233 Unspecified -Orphanet:280671 Megaconial congenital muscular dystrophy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:454836 Avian influenza oboInOwl:hasDbXref ICD10:J09 Unspecified -Orphanet:454836 Avian influenza skos:broadMatch ICD10:J09 Unspecified -Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref MedDRA:10065854 Unspecified -Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref UMLS:C0346421 Unspecified -Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref ICD10:D47.5 Unspecified -Orphanet:168940 Chronic eosinophilic leukemia skos:exactMatch ICD10:D47.5 Unspecified -Orphanet:168940 Chronic eosinophilic leukemia skos:exactMatch UMLS:C0346421 Unspecified -Orphanet:168940 Chronic eosinophilic leukemia skos:exactMatch MedDRA:10065854 Unspecified -Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:300845 Unspecified -Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:300845 Unspecified -Orphanet:466801 LIMS2-related limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:466801 LIMS2-related limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIM:616827 Unspecified -Orphanet:466801 LIMS2-related limb-girdle muscular dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:466801 LIMS2-related limb-girdle muscular dystrophy skos:exactMatch OMIM:616827 Unspecified -Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 oboInOwl:hasDbXref OMIM:613723 Unspecified -Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 skos:exactMatch OMIM:613723 Unspecified -Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref ICD10:D68.4 Unspecified -Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref MedDRA:10069495 Unspecified -Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref UMLS:C0272362 Unspecified -Orphanet:99147 Acquired von Willebrand syndrome skos:exactMatch UMLS:C0272362 Unspecified -Orphanet:99147 Acquired von Willebrand syndrome skos:broadMatch ICD10:D68.4 Unspecified -Orphanet:99147 Acquired von Willebrand syndrome skos:exactMatch MedDRA:10069495 Unspecified -Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref UMLS:C1855902 Unspecified -Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref UMLS:C2931676 Unspecified -Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref OMIM:239840 Unspecified -Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch OMIM:239840 Unspecified -Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch UMLS:C1855902 Unspecified -Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch UMLS:C2931676 Unspecified -Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement oboInOwl:hasDbXref ICD10:D47.1 Unspecified -Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement skos:broadMatch ICD10:D47.1 Unspecified -Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref OMIM:616913 Unspecified -Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref OMIM:619130 Unspecified -Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect skos:narrowMatch OMIM:616913 Unspecified -Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect skos:narrowMatch OMIM:619130 Unspecified -Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref OMIM:615577 Unspecified -Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref ICD10:E23.0 Unspecified -Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome skos:broadMatch OMIM:615577 Unspecified -Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome skos:broadMatch ICD10:E23.0 Unspecified -Orphanet:589527 Spinocerebellar ataxia type 45 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:589527 Spinocerebellar ataxia type 45 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:broadMatch ICD10:Q87.1 Unspecified -Orphanet:589522 Spinocerebellar ataxia type 46 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:589522 Spinocerebellar ataxia type 46 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome oboInOwl:hasDbXref OMIM:617114 Unspecified -Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:exactMatch OMIM:617114 Unspecified -Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:254395 Actinic lichen planus oboInOwl:hasDbXref UMLS:C0406365 Unspecified -Orphanet:254395 Actinic lichen planus oboInOwl:hasDbXref ICD10:L43.8 Unspecified -Orphanet:254395 Actinic lichen planus skos:exactMatch UMLS:C0406365 Unspecified -Orphanet:254395 Actinic lichen planus skos:broadMatch ICD10:L43.8 Unspecified -Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref OMIM:609115 Unspecified -Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref UMLS:C1836765 Unspecified -Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 skos:exactMatch OMIM:609115 Unspecified -Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 skos:exactMatch UMLS:C1836765 Unspecified -Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:404546 DITRA oboInOwl:hasDbXref OMIM:614204 Unspecified -Orphanet:404546 DITRA oboInOwl:hasDbXref ICD10:L40.1 Unspecified -Orphanet:404546 DITRA skos:broadMatch OMIM:614204 Unspecified -Orphanet:404546 DITRA skos:broadMatch ICD10:L40.1 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:611878 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:615373 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:615092 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref UMLS:C1960469 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:601493 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:615396 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:609470 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref ICD10:I42.8 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:613426 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:613424 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:604169 Unspecified -Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:601494 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:narrowMatch OMIM:615092 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:exactMatch OMIM:604169 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:broadMatch OMIM:601493 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:broadMatch OMIM:611878 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:narrowMatch OMIM:615373 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:broadMatch ICD10:I42.8 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:broadMatch OMIM:601494 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:broadMatch OMIM:613424 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:broadMatch OMIM:613426 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:narrowMatch OMIM:615396 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:exactMatch UMLS:C1960469 Unspecified -Orphanet:54260 Left ventricular noncompaction skos:narrowMatch OMIM:609470 Unspecified -Orphanet:99139 Unstable hemoglobin disease oboInOwl:hasDbXref ICD10:D58.2 Unspecified -Orphanet:99139 Unstable hemoglobin disease oboInOwl:hasDbXref UMLS:C0272006 Unspecified -Orphanet:99139 Unstable hemoglobin disease skos:broadMatch ICD10:D58.2 Unspecified -Orphanet:99139 Unstable hemoglobin disease skos:exactMatch UMLS:C0272006 Unspecified -Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref MESH:C538393 Unspecified -Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref ICD10:E70.8 Unspecified -Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref OMIM:600627 Unspecified -Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref UMLS:C2931837 Unspecified -Orphanet:2224 Hypertryptophanemia skos:exactMatch OMIM:600627 Unspecified -Orphanet:2224 Hypertryptophanemia skos:exactMatch UMLS:C2931837 Unspecified -Orphanet:2224 Hypertryptophanemia skos:broadMatch ICD10:E70.8 Unspecified -Orphanet:2224 Hypertryptophanemia skos:exactMatch MESH:C538393 Unspecified -Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction oboInOwl:hasDbXref ICD10:D55.3 Unspecified -Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:broadMatch ICD10:D55.3 Unspecified -Orphanet:397725 COASY protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 Unspecified -Orphanet:397725 COASY protein-associated neurodegeneration oboInOwl:hasDbXref OMIM:615643 Unspecified -Orphanet:397725 COASY protein-associated neurodegeneration skos:broadMatch ICD10:G23.0 Unspecified -Orphanet:397725 COASY protein-associated neurodegeneration skos:exactMatch OMIM:615643 Unspecified -Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement oboInOwl:hasDbXref ICD10:D47.1 Unspecified -Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement oboInOwl:hasDbXref OMIM:613523 Unspecified -Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement skos:broadMatch ICD10:D47.1 Unspecified -Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement skos:exactMatch OMIM:613523 Unspecified -Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref UMLS:C1842062 Unspecified -Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref OMIM:608423 Unspecified -Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 skos:exactMatch OMIM:608423 Unspecified -Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 skos:exactMatch UMLS:C1842062 Unspecified -Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.1 Unspecified -Orphanet:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:619199 Unspecified -Orphanet:99135 6-phosphogluconate dehydrogenase deficiency skos:broadMatch ICD10:D55.1 Unspecified -Orphanet:99135 6-phosphogluconate dehydrogenase deficiency skos:exactMatch OMIM:619199 Unspecified -Orphanet:2221 Acquired hypertrichosis lanuginosa oboInOwl:hasDbXref ICD10:L68.1 Unspecified -Orphanet:2221 Acquired hypertrichosis lanuginosa skos:exactMatch ICD10:L68.1 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref MESH:C538389 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref UMLS:C0235864 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref OMIM:307150 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref ICD10:Q84.2 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref OMIM:145701 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref UMLS:C2936812 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref OMIM:145700 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita skos:narrowMatch OMIM:145700 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita skos:exactMatch UMLS:C2936812 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita skos:narrowMatch OMIM:145701 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita skos:exactMatch MESH:C538389 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita skos:broadMatch ICD10:Q84.2 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita skos:exactMatch UMLS:C0235864 Unspecified -Orphanet:2222 Hypertrichosis lanuginosa congenita skos:narrowMatch OMIM:307150 Unspecified -Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref UMLS:C3472621 Unspecified -Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref ICD10:D47.1 Unspecified -Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement skos:exactMatch UMLS:C3472621 Unspecified -Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement skos:broadMatch ICD10:D47.1 Unspecified -Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease oboInOwl:hasDbXref OMIM:616779 Unspecified -Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease oboInOwl:hasDbXref ICD10:I67.8 Unspecified -Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease skos:broadMatch ICD10:I67.8 Unspecified -Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease skos:exactMatch OMIM:616779 Unspecified -Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref OMIM:607641 Unspecified -Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref OMIM:158580 Unspecified -Orphanet:139589 Distal hereditary motor neuropathy type 7 skos:narrowMatch OMIM:607641 Unspecified -Orphanet:139589 Distal hereditary motor neuropathy type 7 skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:139589 Distal hereditary motor neuropathy type 7 skos:narrowMatch OMIM:158580 Unspecified -Orphanet:465508 Symptomatic form of hemochromatosis type 1 oboInOwl:hasDbXref ICD10:E83.1 Unspecified -Orphanet:465508 Symptomatic form of hemochromatosis type 1 oboInOwl:hasDbXref OMIM:235200 Unspecified -Orphanet:465508 Symptomatic form of hemochromatosis type 1 skos:broadMatch OMIM:235200 Unspecified -Orphanet:465508 Symptomatic form of hemochromatosis type 1 skos:broadMatch ICD10:E83.1 Unspecified -Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy oboInOwl:hasDbXref OMIM:240900 Unspecified -Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy oboInOwl:hasDbXref ICD10:Q87.3 Unspecified -Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch OMIM:240900 Unspecified -Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy skos:broadMatch ICD10:Q87.3 Unspecified -Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref OMIM:300614 Unspecified -Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness skos:exactMatch OMIM:300614 Unspecified -Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:280651 Acrodysostosis with multiple hormone resistance oboInOwl:hasDbXref OMIM:614613 Unspecified -Orphanet:280651 Acrodysostosis with multiple hormone resistance oboInOwl:hasDbXref ICD10:Q75.4 Unspecified -Orphanet:280651 Acrodysostosis with multiple hormone resistance oboInOwl:hasDbXref OMIM:101800 Unspecified -Orphanet:280651 Acrodysostosis with multiple hormone resistance skos:narrowMatch OMIM:614613 Unspecified -Orphanet:280651 Acrodysostosis with multiple hormone resistance skos:narrowMatch OMIM:101800 Unspecified -Orphanet:280651 Acrodysostosis with multiple hormone resistance skos:broadMatch ICD10:Q75.4 Unspecified -Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome oboInOwl:hasDbXref ICD10:E23.0 Unspecified -Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:broadMatch ICD10:E23.0 Unspecified -Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency oboInOwl:hasDbXref OMIM:615425 Unspecified -Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency skos:exactMatch OMIM:615425 Unspecified -Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref ICD10:Q84.6 Unspecified -Orphanet:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref OMIM:614157 Unspecified -Orphanet:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref OMIM:161050 Unspecified -Orphanet:280654 Autosomal recessive nail dysplasia skos:broadMatch OMIM:161050 Unspecified -Orphanet:280654 Autosomal recessive nail dysplasia skos:exactMatch OMIM:614157 Unspecified -Orphanet:280654 Autosomal recessive nail dysplasia skos:broadMatch ICD10:Q84.6 Unspecified -Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C2931722 Unspecified -Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:exactMatch UMLS:C2931722 Unspecified -Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref ICD10:M30.8 Unspecified -Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref OMIM:615688 Unspecified -Orphanet:404553 Vasculitis due to ADA2 deficiency skos:broadMatch ICD10:M30.8 Unspecified -Orphanet:404553 Vasculitis due to ADA2 deficiency skos:exactMatch OMIM:615688 Unspecified -Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U oboInOwl:hasDbXref OMIM:616280 Unspecified -Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U skos:exactMatch OMIM:616280 Unspecified -Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy oboInOwl:hasDbXref ICD10:G40.1 Unspecified -Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy skos:broadMatch ICD10:G40.1 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:601198 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:146200 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:307700 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref MESH:C537156 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref ICD10:E20.8 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:615361 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref UMLS:C1832648 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism skos:exactMatch UMLS:C1832648 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:307700 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:601198 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:146200 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism skos:exactMatch MESH:C537156 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism skos:broadMatch ICD10:E20.8 Unspecified -Orphanet:2238 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:615361 Unspecified -Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref ICD10:E25.0 Unspecified -Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref OMIM:201710 Unspecified -Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref UMLS:C0342474 Unspecified -Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref MESH:C537027 Unspecified -Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch MESH:C537027 Unspecified -Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch UMLS:C0342474 Unspecified -Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency skos:broadMatch ICD10:E25.0 Unspecified -Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch OMIM:201710 Unspecified -Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref OMIM:241090 Unspecified -Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref ICD10:E29.1 Unspecified -Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref UMLS:C2931374 Unspecified -Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref ICD10:E28.3 Unspecified -Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch UMLS:C2931374 Unspecified -Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:narrowMatch ICD10:E28.3 Unspecified -Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch OMIM:241090 Unspecified -Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:narrowMatch ICD10:E29.1 Unspecified -Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931685 Unspecified -Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:exactMatch UMLS:C2931685 Unspecified -Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref ICD10:D46.3 Unspecified -Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref UMLS:C0280028 Unspecified -Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref UMLS:C0002894 Unspecified -Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref MedDRA:10038271 Unspecified -Orphanet:168960 Refractory anemia with excess blasts in transformation skos:exactMatch MedDRA:10038271 Unspecified -Orphanet:168960 Refractory anemia with excess blasts in transformation skos:exactMatch UMLS:C0002894 Unspecified -Orphanet:168960 Refractory anemia with excess blasts in transformation skos:broadMatch ICD10:D46.3 Unspecified -Orphanet:168960 Refractory anemia with excess blasts in transformation skos:exactMatch UMLS:C0280028 Unspecified -Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201810 Unspecified -Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E25.0 Unspecified -Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch OMIM:201810 Unspecified -Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:broadMatch ICD10:E25.0 Unspecified -Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep oboInOwl:hasDbXref ICD10:G40.0 Unspecified -Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep skos:broadMatch ICD10:G40.0 Unspecified -Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C2936858 Unspecified -Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref OMIM:201910 Unspecified -Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 Unspecified -Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:broadMatch ICD10:E25.0 Unspecified -Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch UMLS:C2936858 Unspecified -Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch OMIM:201910 Unspecified -Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref OMIM:202110 Unspecified -Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C0268285 Unspecified -Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 Unspecified -Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:broadMatch ICD10:E25.0 Unspecified -Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch OMIM:202110 Unspecified -Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch UMLS:C0268285 Unspecified -Orphanet:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency oboInOwl:hasDbXref ICD10:E29.1 Unspecified -Orphanet:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency oboInOwl:hasDbXref OMIM:202110 Unspecified -Orphanet:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency oboInOwl:hasDbXref UMLS:C0268285 Unspecified -Orphanet:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency skos:exactMatch UMLS:C0268285 Unspecified -Orphanet:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency skos:broadMatch OMIM:202110 Unspecified -Orphanet:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency skos:broadMatch ICD10:E29.1 Unspecified -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C0268292 Unspecified -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 Unspecified -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref OMIM:202010 Unspecified -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref MESH:C535978 Unspecified -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref MedDRA:10000002 Unspecified -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch OMIM:202010 Unspecified -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch UMLS:C0268292 Unspecified -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch MESH:C535978 Unspecified -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:broadMatch ICD10:E25.0 Unspecified -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch MedDRA:10000002 Unspecified -Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref UMLS:C0263390 Unspecified -Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref ICD10:L98.5 Unspecified -Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref MESH:D053718 Unspecified -Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref MedDRA:10055046 Unspecified -Orphanet:167635 Scleromyxedema skos:exactMatch MESH:D053718 Unspecified -Orphanet:167635 Scleromyxedema skos:exactMatch UMLS:C0263390 Unspecified -Orphanet:167635 Scleromyxedema skos:broadMatch ICD10:L98.5 Unspecified -Orphanet:167635 Scleromyxedema skos:exactMatch MedDRA:10055046 Unspecified -Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref UMLS:C0545080 Unspecified -Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref ICD10:C81.7 Unspecified -Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref ICD10:C85.7 Unspecified -Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref MESH:D058617 Unspecified -Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref UMLS:C1266191 Unspecified -Orphanet:168966 Composite lymphoma skos:exactMatch UMLS:C0545080 Unspecified -Orphanet:168966 Composite lymphoma skos:exactMatch UMLS:C1266191 Unspecified -Orphanet:168966 Composite lymphoma skos:exactMatch MESH:D058617 Unspecified -Orphanet:168966 Composite lymphoma skos:broadMatch ICD10:C81.7 Unspecified -Orphanet:168966 Composite lymphoma skos:broadMatch ICD10:C85.7 Unspecified -Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 Unspecified -Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0268301 Unspecified -Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0860159 Unspecified -Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:312300 Unspecified -Orphanet:90797 Partial androgen insensitivity syndrome skos:exactMatch OMIM:312300 Unspecified -Orphanet:90797 Partial androgen insensitivity syndrome skos:exactMatch UMLS:C0860159 Unspecified -Orphanet:90797 Partial androgen insensitivity syndrome skos:exactMatch UMLS:C0268301 Unspecified -Orphanet:90797 Partial androgen insensitivity syndrome skos:broadMatch ICD10:E34.5 Unspecified -Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency oboInOwl:hasDbXref ICD10:G96.8 Unspecified -Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency oboInOwl:hasDbXref OMIM:614458 Unspecified -Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:exactMatch OMIM:614458 Unspecified -Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:broadMatch ICD10:G96.8 Unspecified -Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency oboInOwl:hasDbXref OMIM:616127 Unspecified -Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency skos:exactMatch OMIM:616127 Unspecified -Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:83600 Encephalitis lethargica oboInOwl:hasDbXref MedDRA:10052369 Unspecified -Orphanet:83600 Encephalitis lethargica oboInOwl:hasDbXref ICD10:A85.8 Unspecified -Orphanet:83600 Encephalitis lethargica oboInOwl:hasDbXref UMLS:C0014040 Unspecified -Orphanet:83600 Encephalitis lethargica skos:exactMatch UMLS:C0014040 Unspecified -Orphanet:83600 Encephalitis lethargica skos:exactMatch MedDRA:10052369 Unspecified -Orphanet:83600 Encephalitis lethargica skos:broadMatch ICD10:A85.8 Unspecified -Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref UMLS:C0393639 Unspecified -Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref ICD10:G04.8 Unspecified -Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:exactMatch UMLS:C0393639 Unspecified -Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:broadMatch ICD10:G04.8 Unspecified -Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome oboInOwl:hasDbXref OMIM:614369 Unspecified -Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:exactMatch OMIM:614369 Unspecified -Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref OMIM:159595 Unspecified -Orphanet:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref UMLS:C1834582 Unspecified -Orphanet:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref ICD10:D47.7 Unspecified -Orphanet:420611 Transient myeloproliferative syndrome skos:broadMatch ICD10:D47.7 Unspecified -Orphanet:420611 Transient myeloproliferative syndrome skos:exactMatch OMIM:159595 Unspecified -Orphanet:420611 Transient myeloproliferative syndrome skos:exactMatch UMLS:C1834582 Unspecified -Orphanet:439224 ALECT2 amyloidosis oboInOwl:hasDbXref ICD10:E85.8 Unspecified -Orphanet:439224 ALECT2 amyloidosis skos:broadMatch ICD10:E85.8 Unspecified -Orphanet:83616 Rubella panencephalitis oboInOwl:hasDbXref ICD10:G05.1* Unspecified -Orphanet:83616 Rubella panencephalitis oboInOwl:hasDbXref ICD10:B06.0+ Unspecified -Orphanet:83616 Rubella panencephalitis skos:broadMatch ICD10:G05.1* Unspecified -Orphanet:83616 Rubella panencephalitis skos:broadMatch ICD10:B06.0+ Unspecified -Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref UMLS:C0272167 Unspecified -Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref ICD10:D81.0 Unspecified -Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref MESH:C538361 Unspecified -Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref OMIM:267500 Unspecified -Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref UMLS:C1282908 Unspecified -Orphanet:33355 Reticular dysgenesis skos:exactMatch MESH:C538361 Unspecified -Orphanet:33355 Reticular dysgenesis skos:exactMatch OMIM:267500 Unspecified -Orphanet:33355 Reticular dysgenesis skos:exactMatch ICD10:D81.0 Unspecified -Orphanet:33355 Reticular dysgenesis skos:exactMatch UMLS:C1282908 Unspecified -Orphanet:33355 Reticular dysgenesis skos:exactMatch UMLS:C0272167 Unspecified -Orphanet:397755 Periodic paralysis with transient compartment-like syndrome oboInOwl:hasDbXref ICD10:G72.3 Unspecified -Orphanet:397755 Periodic paralysis with transient compartment-like syndrome skos:broadMatch ICD10:G72.3 Unspecified -Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies oboInOwl:hasDbXref OMIM:616079 Unspecified -Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:exactMatch OMIM:616079 Unspecified -Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref MESH:D018248 Unspecified -Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref MedDRA:10019827 Unspecified -Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref ICD10:D13.4 Unspecified -Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref UMLS:C0206669 Unspecified -Orphanet:54272 Hepatocellular adenoma skos:exactMatch MedDRA:10019827 Unspecified -Orphanet:54272 Hepatocellular adenoma skos:exactMatch UMLS:C0206669 Unspecified -Orphanet:54272 Hepatocellular adenoma skos:exactMatch MESH:D018248 Unspecified -Orphanet:54272 Hepatocellular adenoma skos:broadMatch ICD10:D13.4 Unspecified -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref OMIM:210210 Unspecified -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref MESH:C535308 Unspecified -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref UMLS:C0268600 Unspecified -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref OMIM:210200 Unspecified -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency skos:narrowMatch OMIM:210200 Unspecified -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch MESH:C535308 Unspecified -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency skos:narrowMatch OMIM:210210 Unspecified -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch UMLS:C0268600 Unspecified -Orphanet:439218 KCNQ2-related epileptic encephalopathy oboInOwl:hasDbXref OMIM:613720 Unspecified -Orphanet:439218 KCNQ2-related epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:439218 KCNQ2-related epileptic encephalopathy skos:exactMatch OMIM:613720 Unspecified -Orphanet:439218 KCNQ2-related epileptic encephalopathy skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy oboInOwl:hasDbXref ICD10:G72.3 Unspecified -Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy skos:broadMatch ICD10:G72.3 Unspecified -Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:609016 Unspecified -Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1969443 Unspecified -Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0342786 Unspecified -Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C1969443 Unspecified -Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:609016 Unspecified -Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0342786 Unspecified -Orphanet:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref OMIM:614409 Unspecified -Orphanet:320391 Autosomal recessive spastic paraplegia type 46 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:320391 Autosomal recessive spastic paraplegia type 46 skos:exactMatch OMIM:614409 Unspecified -Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref OMIM:614399 Unspecified -Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome skos:exactMatch OMIM:614399 Unspecified -Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref OMIM:613162 Unspecified -Orphanet:320396 Autosomal recessive spastic paraplegia type 45 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:320396 Autosomal recessive spastic paraplegia type 45 skos:exactMatch OMIM:613162 Unspecified -Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref OMIM:206200 Unspecified -Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref ICD10:D50.8 Unspecified -Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref UMLS:C0085576 Unspecified -Orphanet:209981 IRIDA syndrome skos:exactMatch OMIM:206200 Unspecified -Orphanet:209981 IRIDA syndrome skos:broadMatch ICD10:D50.8 Unspecified -Orphanet:209981 IRIDA syndrome skos:exactMatch UMLS:C0085576 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref MESH:C536559 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref MESH:D054463 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:616943 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:601675 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:616390 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:300953 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref UMLS:C0740342 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref MedDRA:10044628 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref ICD10:L67.8 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref UMLS:C1955934 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:234050 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:618546 Unspecified -Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:616395 Unspecified -Orphanet:33364 Trichothiodystrophy skos:exactMatch MedDRA:10044628 Unspecified -Orphanet:33364 Trichothiodystrophy skos:exactMatch UMLS:C0740342 Unspecified -Orphanet:33364 Trichothiodystrophy skos:narrowMatch OMIM:601675 Unspecified -Orphanet:33364 Trichothiodystrophy skos:narrowMatch OMIM:616390 Unspecified -Orphanet:33364 Trichothiodystrophy skos:narrowMatch OMIM:616943 Unspecified -Orphanet:33364 Trichothiodystrophy skos:exactMatch UMLS:C1955934 Unspecified -Orphanet:33364 Trichothiodystrophy skos:broadMatch ICD10:L67.8 Unspecified -Orphanet:33364 Trichothiodystrophy skos:narrowMatch OMIM:234050 Unspecified -Orphanet:33364 Trichothiodystrophy skos:exactMatch MESH:C536559 Unspecified -Orphanet:33364 Trichothiodystrophy skos:narrowMatch OMIM:618546 Unspecified -Orphanet:33364 Trichothiodystrophy skos:narrowMatch OMIM:616395 Unspecified -Orphanet:33364 Trichothiodystrophy skos:exactMatch MESH:D054463 Unspecified -Orphanet:33364 Trichothiodystrophy skos:narrowMatch OMIM:300953 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.7 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.5 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.9 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.3 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.1 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.8 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.6 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.0 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.2 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder skos:narrowMatch ICD10:C67.7 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder skos:narrowMatch ICD10:C67.9 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder skos:narrowMatch ICD10:C67.3 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder skos:narrowMatch ICD10:C67.5 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder skos:narrowMatch ICD10:C67.1 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder skos:narrowMatch ICD10:C67.8 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder skos:narrowMatch ICD10:C67.4 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder skos:narrowMatch ICD10:C67.6 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder skos:narrowMatch ICD10:C67.0 Unspecified -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder skos:narrowMatch ICD10:C67.2 Unspecified -Orphanet:268114 RAS-associated autoimmune leukoproliferative disease oboInOwl:hasDbXref ICD10:D72.8 Unspecified -Orphanet:268114 RAS-associated autoimmune leukoproliferative disease oboInOwl:hasDbXref OMIM:614470 Unspecified -Orphanet:268114 RAS-associated autoimmune leukoproliferative disease skos:broadMatch ICD10:D72.8 Unspecified -Orphanet:268114 RAS-associated autoimmune leukoproliferative disease skos:exactMatch OMIM:614470 Unspecified -Orphanet:457077 TAFRO syndrome oboInOwl:hasDbXref ICD10:M35.8 Unspecified -Orphanet:457077 TAFRO syndrome skos:broadMatch ICD10:M35.8 Unspecified -Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref OMIM:237400 Unspecified -Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref UMLS:C0268630 Unspecified -Orphanet:309147 Hyper-beta-alaninemia skos:exactMatch OMIM:237400 Unspecified -Orphanet:309147 Hyper-beta-alaninemia skos:exactMatch UMLS:C0268630 Unspecified -Orphanet:309147 Hyper-beta-alaninemia skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:616007 Unspecified -Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:exactMatch OMIM:616007 Unspecified -Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:250831 Logopenic progressive aphasia oboInOwl:hasDbXref ICD10:G31.0 Unspecified -Orphanet:250831 Logopenic progressive aphasia skos:broadMatch ICD10:G31.0 Unspecified -Orphanet:439202 Non-recovering obstetric brachial plexus lesion oboInOwl:hasDbXref ICD10:P14.3 Unspecified -Orphanet:439202 Non-recovering obstetric brachial plexus lesion skos:broadMatch ICD10:P14.3 Unspecified -Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10:G81.9 Unspecified -Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood skos:broadMatch ICD10:G81.9 Unspecified -Orphanet:590539 Isolated melanotic schwannoma oboInOwl:hasDbXref ICD10:D36.1 Unspecified -Orphanet:590539 Isolated melanotic schwannoma skos:broadMatch ICD10:D36.1 Unspecified -Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref OMIM:611907 Unspecified -Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref UMLS:C2677843 Unspecified -Orphanet:209970 Episodic ataxia type 7 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:209970 Episodic ataxia type 7 skos:exactMatch UMLS:C2677843 Unspecified -Orphanet:209970 Episodic ataxia type 7 skos:exactMatch OMIM:611907 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.3 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.1 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref UMLS:C0920305 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.8 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.2 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.0 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine skos:exactMatch UMLS:C0920305 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine skos:narrowMatch ICD10:C17.0 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine skos:narrowMatch ICD10:C17.2 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine skos:narrowMatch ICD10:C17.8 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine skos:narrowMatch ICD10:C17.1 Unspecified -Orphanet:104076 Leiomyosarcoma of small intestine skos:narrowMatch ICD10:C17.3 Unspecified -Orphanet:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref UMLS:C0278803 Unspecified -Orphanet:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref ICD10:D01.4 Unspecified -Orphanet:104075 Adenocarcinoma of the small intestine skos:exactMatch UMLS:C0278803 Unspecified -Orphanet:104075 Adenocarcinoma of the small intestine skos:broadMatch ICD10:D01.4 Unspecified -Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency oboInOwl:hasDbXref OMIM:212050 Unspecified -Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch OMIM:212050 Unspecified -Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement oboInOwl:hasDbXref ICD10:D47.1 Unspecified -Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:broadMatch ICD10:D47.1 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:609384 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:135700 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:609612 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref ICD10:H49.8 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref UMLS:C1302995 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:602078 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:609428 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:600638 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:600638 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:609428 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles skos:exactMatch UMLS:C1302995 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:602078 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:609384 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles skos:broadMatch ICD10:H49.8 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:609612 Unspecified -Orphanet:45358 Congenital fibrosis of extraocular muscles skos:exactMatch OMIM:135700 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618396 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617162 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617153 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617166 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617106 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618008 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618910 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618916 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618468 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:301058 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:614558 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618437 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615476 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616211 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617854 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619124 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617830 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617836 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617829 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617132 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615833 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615871 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616366 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618559 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618557 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617105 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618959 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616339 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616346 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617938 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618012 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618201 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616056 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617020 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:301008 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615905 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616409 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617831 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:301058 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618468 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618437 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:614558 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618008 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615476 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617830 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617836 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617854 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616211 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617153 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617166 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617162 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617106 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:619124 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617829 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618396 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618910 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618916 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616056 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618201 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617020 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617938 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618012 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617831 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616409 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:301008 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615905 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615833 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617132 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618559 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618557 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617105 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615871 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618959 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616366 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616339 Unspecified -Orphanet:442835 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616346 Unspecified -Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref ICD10:F84.8 Unspecified -Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder skos:broadMatch ICD10:F84.8 Unspecified -Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome oboInOwl:hasDbXref ICD10:E85.0 Unspecified -Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome oboInOwl:hasDbXref OMIM:616050 Unspecified -Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:broadMatch ICD10:E85.0 Unspecified -Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch OMIM:616050 Unspecified -Orphanet:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref UMLS:C3280976 Unspecified -Orphanet:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref OMIM:614486 Unspecified -Orphanet:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref ICD10:D68.3 Unspecified -Orphanet:436169 Thrombomodulin-related bleeding disorder skos:exactMatch UMLS:C3280976 Unspecified -Orphanet:436169 Thrombomodulin-related bleeding disorder skos:broadMatch ICD10:D68.3 Unspecified -Orphanet:436169 Thrombomodulin-related bleeding disorder skos:exactMatch OMIM:614486 Unspecified -Orphanet:209964 Solitary rectal ulcer syndrome oboInOwl:hasDbXref ICD10:K62.6 Unspecified -Orphanet:209964 Solitary rectal ulcer syndrome skos:broadMatch ICD10:K62.6 Unspecified -Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:614621 Unspecified -Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:614640 Unspecified -Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref UMLS:C1833561 Unspecified -Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:600630 Unspecified -Orphanet:178338 UV-sensitive syndrome skos:exactMatch UMLS:C1833561 Unspecified -Orphanet:178338 UV-sensitive syndrome skos:narrowMatch OMIM:614621 Unspecified -Orphanet:178338 UV-sensitive syndrome skos:narrowMatch OMIM:600630 Unspecified -Orphanet:178338 UV-sensitive syndrome skos:narrowMatch OMIM:614640 Unspecified -Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref UMLS:C0878555 Unspecified -Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref MESH:C536174 Unspecified -Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref MedDRA:10062952 Unspecified -Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref OMIM:604809 Unspecified -Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref ICD10:J44.8 Unspecified -Orphanet:171700 Diffuse panbronchiolitis skos:exactMatch OMIM:604809 Unspecified -Orphanet:171700 Diffuse panbronchiolitis skos:broadMatch ICD10:J44.8 Unspecified -Orphanet:171700 Diffuse panbronchiolitis skos:exactMatch UMLS:C0878555 Unspecified -Orphanet:171700 Diffuse panbronchiolitis skos:exactMatch MESH:C536174 Unspecified -Orphanet:171700 Diffuse panbronchiolitis skos:exactMatch MedDRA:10062952 Unspecified -Orphanet:36412 Hypocomplementemic urticarial vasculitis oboInOwl:hasDbXref ICD10:M31.8 Unspecified -Orphanet:36412 Hypocomplementemic urticarial vasculitis skos:broadMatch ICD10:M31.8 Unspecified -Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref OMIM:616271 Unspecified -Orphanet:445038 3-methylglutaconic aciduria type 7 skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:445038 3-methylglutaconic aciduria type 7 skos:exactMatch OMIM:616271 Unspecified -Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref ICD10:E03.1 Unspecified -Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref OMIM:609698 Unspecified -Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency skos:broadMatch ICD10:E03.1 Unspecified -Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency skos:exactMatch OMIM:609698 Unspecified -Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref MESH:C537395 Unspecified -Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref OMIM:603472 Unspecified -Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref ICD10:G31.0 Unspecified -Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref UMLS:C1863843 Unspecified -Orphanet:2289 Neuronal intranuclear inclusion disease skos:exactMatch UMLS:C1863843 Unspecified -Orphanet:2289 Neuronal intranuclear inclusion disease skos:broadMatch ICD10:G31.0 Unspecified -Orphanet:2289 Neuronal intranuclear inclusion disease skos:exactMatch OMIM:603472 Unspecified -Orphanet:2289 Neuronal intranuclear inclusion disease skos:exactMatch MESH:C537395 Unspecified -Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref UMLS:C2675211 Unspecified -Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref OMIM:612656 Unspecified -Orphanet:209967 Episodic ataxia type 6 skos:exactMatch OMIM:612656 Unspecified -Orphanet:209967 Episodic ataxia type 6 skos:exactMatch UMLS:C2675211 Unspecified -Orphanet:209967 Episodic ataxia type 6 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency oboInOwl:hasDbXref OMIM:615592 Unspecified -Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency oboInOwl:hasDbXref ICD10:D81.2 Unspecified -Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency oboInOwl:hasDbXref OMIM:618204 Unspecified -Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency skos:narrowMatch OMIM:618204 Unspecified -Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency skos:broadMatch ICD10:D81.2 Unspecified -Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch OMIM:615592 Unspecified -Orphanet:268139 Intraocular medulloepithelioma oboInOwl:hasDbXref ICD10:D31.4 Unspecified -Orphanet:268139 Intraocular medulloepithelioma skos:broadMatch ICD10:D31.4 Unspecified -Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref UMLS:C2936879 Unspecified -Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref OMIM:613096 Unspecified -Orphanet:320365 Autosomal dominant spastic paraplegia type 36 skos:exactMatch OMIM:613096 Unspecified -Orphanet:320365 Autosomal dominant spastic paraplegia type 36 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:320365 Autosomal dominant spastic paraplegia type 36 skos:exactMatch UMLS:C2936879 Unspecified -Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref OMIM:300600 Unspecified -Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref UMLS:C0268505 Unspecified -Orphanet:178333 Åland Islands eye disease skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:178333 Åland Islands eye disease skos:exactMatch OMIM:300600 Unspecified -Orphanet:178333 Åland Islands eye disease skos:exactMatch UMLS:C0268505 Unspecified -Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref ICD10:D50.8 Unspecified -Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref OMIM:206100 Unspecified -Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref UMLS:C2673913 Unspecified -Orphanet:83642 Microcytic anemia with liver iron overload skos:exactMatch OMIM:206100 Unspecified -Orphanet:83642 Microcytic anemia with liver iron overload skos:exactMatch UMLS:C2673913 Unspecified -Orphanet:83642 Microcytic anemia with liver iron overload skos:broadMatch ICD10:D50.8 Unspecified -Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref OMIM:151900 Unspecified -Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref UMLS:C3489413 Unspecified -Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref ICD10:E88.2 Unspecified -Orphanet:199276 Familial multiple lipomatosis skos:exactMatch OMIM:151900 Unspecified -Orphanet:199276 Familial multiple lipomatosis skos:exactMatch UMLS:C3489413 Unspecified -Orphanet:199276 Familial multiple lipomatosis skos:broadMatch ICD10:E88.2 Unspecified -Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation oboInOwl:hasDbXref OMIM:115200 Unspecified -Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation oboInOwl:hasDbXref ICD10:I42.0 Unspecified -Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation skos:broadMatch ICD10:I42.0 Unspecified -Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation skos:exactMatch OMIM:115200 Unspecified -Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref UMLS:C1859784 Unspecified -Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref OMIM:206550 Unspecified -Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref ICD10:D17.9 Unspecified -Orphanet:199279 Familial angiolipomatosis skos:broadMatch ICD10:D17.9 Unspecified -Orphanet:199279 Familial angiolipomatosis skos:exactMatch OMIM:206550 Unspecified -Orphanet:199279 Familial angiolipomatosis skos:exactMatch UMLS:C1859784 Unspecified -Orphanet:209951 Autosomal recessive spastic paraplegia type 18 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:209951 Autosomal recessive spastic paraplegia type 18 oboInOwl:hasDbXref UMLS:C2749936 Unspecified -Orphanet:209951 Autosomal recessive spastic paraplegia type 18 oboInOwl:hasDbXref OMIM:611225 Unspecified -Orphanet:209951 Autosomal recessive spastic paraplegia type 18 skos:exactMatch OMIM:611225 Unspecified -Orphanet:209951 Autosomal recessive spastic paraplegia type 18 skos:exactMatch UMLS:C2749936 Unspecified -Orphanet:209951 Autosomal recessive spastic paraplegia type 18 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref UMLS:C0268349 Unspecified -Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref OMIM:147900 Unspecified -Orphanet:2295 Familial articular hypermobility syndrome skos:exactMatch OMIM:147900 Unspecified -Orphanet:2295 Familial articular hypermobility syndrome skos:exactMatch UMLS:C0268349 Unspecified -Orphanet:2295 Familial articular hypermobility syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:242300 Unspecified -Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref UMLS:C1855789 Unspecified -Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:242100 Unspecified -Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:606545 Unspecified -Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref ICD10:Q80.2 Unspecified -Orphanet:281122 Self-improving collodion baby skos:broadMatch ICD10:Q80.2 Unspecified -Orphanet:281122 Self-improving collodion baby skos:narrowMatch OMIM:606545 Unspecified -Orphanet:281122 Self-improving collodion baby skos:broadMatch OMIM:242300 Unspecified -Orphanet:281122 Self-improving collodion baby skos:exactMatch UMLS:C1855789 Unspecified -Orphanet:281122 Self-improving collodion baby skos:narrowMatch OMIM:242100 Unspecified -Orphanet:529864 Secondary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 Unspecified -Orphanet:529864 Secondary erythromelalgia skos:broadMatch ICD10:I73.8 Unspecified -Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref UMLS:C0341306 Unspecified -Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref MedDRA:10068494 Unspecified -Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref ICD10:P78.3 Unspecified -Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref OMIM:251850 Unspecified -Orphanet:2290 Microvillus inclusion disease skos:exactMatch OMIM:251850 Unspecified -Orphanet:2290 Microvillus inclusion disease skos:exactMatch UMLS:C0341306 Unspecified -Orphanet:2290 Microvillus inclusion disease skos:exactMatch MedDRA:10068494 Unspecified -Orphanet:2290 Microvillus inclusion disease skos:broadMatch ICD10:P78.3 Unspecified -Orphanet:281127 Acral self-healing collodion baby oboInOwl:hasDbXref ICD10:Q80.2 Unspecified -Orphanet:281127 Acral self-healing collodion baby skos:broadMatch ICD10:Q80.2 Unspecified -Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref UMLS:C0339320 Unspecified -Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref UMLS:C0152137 Unspecified -Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref ICD10:H20.2 Unspecified -Orphanet:209959 Phacoanaphylactic uveitis skos:exactMatch ICD10:H20.2 Unspecified -Orphanet:209959 Phacoanaphylactic uveitis skos:exactMatch UMLS:C0152137 Unspecified -Orphanet:209959 Phacoanaphylactic uveitis skos:exactMatch UMLS:C0339320 Unspecified -Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref OMIM:610549 Unspecified -Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref UMLS:C0342336 Unspecified -Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref UMLS:C0342278 Unspecified -Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref ICD10:E13 Unspecified -Orphanet:2297 Insulin-resistance syndrome type A skos:broadMatch ICD10:E13 Unspecified -Orphanet:2297 Insulin-resistance syndrome type A skos:exactMatch UMLS:C0342278 Unspecified -Orphanet:2297 Insulin-resistance syndrome type A skos:exactMatch UMLS:C0342336 Unspecified -Orphanet:2297 Insulin-resistance syndrome type A skos:exactMatch OMIM:610549 Unspecified -Orphanet:2298 Insulin-resistance syndrome type B oboInOwl:hasDbXref ICD10:E13 Unspecified -Orphanet:2298 Insulin-resistance syndrome type B oboInOwl:hasDbXref UMLS:C0342337 Unspecified -Orphanet:2298 Insulin-resistance syndrome type B skos:broadMatch ICD10:E13 Unspecified -Orphanet:2298 Insulin-resistance syndrome type B skos:exactMatch UMLS:C0342337 Unspecified -Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref OMIM:616651 Unspecified -Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref UMLS:C1846059 Unspecified -Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref OMIM:300258 Unspecified -Orphanet:353298 Roifman syndrome skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:353298 Roifman syndrome skos:exactMatch OMIM:616651 Unspecified -Orphanet:353298 Roifman syndrome skos:exactMatch UMLS:C1846059 Unspecified -Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref OMIM:182920 Unspecified -Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref UMLS:C1866785 Unspecified -Orphanet:268129 Spheroid body myopathy skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:268129 Spheroid body myopathy skos:exactMatch UMLS:C1866785 Unspecified -Orphanet:268129 Spheroid body myopathy skos:exactMatch OMIM:182920 Unspecified -Orphanet:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref UMLS:C0553647 Unspecified -Orphanet:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref ICD10:M72.8 Unspecified -Orphanet:199260 Calcifying aponeurotic fibroma skos:broadMatch ICD10:M72.8 Unspecified -Orphanet:199260 Calcifying aponeurotic fibroma skos:exactMatch UMLS:C0553647 Unspecified -Orphanet:247203 Collecting duct carcinoma oboInOwl:hasDbXref UMLS:C1266044 Unspecified -Orphanet:247203 Collecting duct carcinoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:247203 Collecting duct carcinoma oboInOwl:hasDbXref MESH:D002292 Unspecified -Orphanet:247203 Collecting duct carcinoma skos:exactMatch MESH:D002292 Unspecified -Orphanet:247203 Collecting duct carcinoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:247203 Collecting duct carcinoma skos:exactMatch UMLS:C1266044 Unspecified -Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref MedDRA:10067917 Unspecified -Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref ICD10:D48.7 Unspecified -Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref UMLS:C0334121 Unspecified -Orphanet:178342 Inflammatory myofibroblastic tumor skos:exactMatch UMLS:C0334121 Unspecified -Orphanet:178342 Inflammatory myofibroblastic tumor skos:exactMatch MedDRA:10067917 Unspecified -Orphanet:178342 Inflammatory myofibroblastic tumor skos:broadMatch ICD10:D48.7 Unspecified -Orphanet:199267 Infantile digital fibromatosis oboInOwl:hasDbXref ICD10:M72.8 Unspecified -Orphanet:199267 Infantile digital fibromatosis oboInOwl:hasDbXref UMLS:C1318562 Unspecified -Orphanet:199267 Infantile digital fibromatosis skos:exactMatch UMLS:C1318562 Unspecified -Orphanet:199267 Infantile digital fibromatosis skos:broadMatch ICD10:M72.8 Unspecified -Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref OMIM:139300 Unspecified -Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref ICD10:E30.1 Unspecified -Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref UMLS:C1970109 Unspecified -Orphanet:178345 Aromatase excess syndrome skos:exactMatch OMIM:139300 Unspecified -Orphanet:178345 Aromatase excess syndrome skos:exactMatch UMLS:C1970109 Unspecified -Orphanet:178345 Aromatase excess syndrome skos:broadMatch ICD10:E30.1 Unspecified -Orphanet:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref OMIM:613364 Unspecified -Orphanet:320355 Autosomal dominant spastic paraplegia type 41 skos:exactMatch OMIM:613364 Unspecified -Orphanet:320355 Autosomal dominant spastic paraplegia type 41 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:209943 IRVAN syndrome oboInOwl:hasDbXref UMLS:C3665812 Unspecified -Orphanet:209943 IRVAN syndrome oboInOwl:hasDbXref ICD10:H35.0 Unspecified -Orphanet:209943 IRVAN syndrome skos:exactMatch UMLS:C3665812 Unspecified -Orphanet:209943 IRVAN syndrome skos:broadMatch ICD10:H35.0 Unspecified -Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C1842398 Unspecified -Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref OMIM:618987 Unspecified -Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D71 Unspecified -Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref OMIM:608203 Unspecified -Orphanet:183707 Neutrophil immunodeficiency syndrome skos:narrowMatch OMIM:618987 Unspecified -Orphanet:183707 Neutrophil immunodeficiency syndrome skos:narrowMatch OMIM:608203 Unspecified -Orphanet:183707 Neutrophil immunodeficiency syndrome skos:broadMatch ICD10:D71 Unspecified -Orphanet:183707 Neutrophil immunodeficiency syndrome skos:exactMatch UMLS:C1842398 Unspecified -Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref UMLS:C1865596 Unspecified -Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref OMIM:602398 Unspecified -Orphanet:35107 Desmosterolosis skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:35107 Desmosterolosis skos:exactMatch OMIM:602398 Unspecified -Orphanet:35107 Desmosterolosis skos:exactMatch UMLS:C1865596 Unspecified -Orphanet:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref OMIM:614338 Unspecified -Orphanet:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref ICD10:K90.3 Unspecified -Orphanet:309111 Combined pancreatic lipase-colipase deficiency skos:broadMatch ICD10:K90.3 Unspecified -Orphanet:309111 Combined pancreatic lipase-colipase deficiency skos:broadMatch OMIM:614338 Unspecified -Orphanet:171723 White sponge nevus oboInOwl:hasDbXref ICD10:Q38.6 Unspecified -Orphanet:171723 White sponge nevus oboInOwl:hasDbXref OMIM:193900 Unspecified -Orphanet:171723 White sponge nevus oboInOwl:hasDbXref OMIM:615785 Unspecified -Orphanet:171723 White sponge nevus oboInOwl:hasDbXref UMLS:C1721005 Unspecified -Orphanet:171723 White sponge nevus skos:exactMatch UMLS:C1721005 Unspecified -Orphanet:171723 White sponge nevus skos:exactMatch OMIM:193900 Unspecified -Orphanet:171723 White sponge nevus skos:broadMatch ICD10:Q38.6 Unspecified -Orphanet:171723 White sponge nevus skos:narrowMatch OMIM:615785 Unspecified -Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1970840 Unspecified -Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:300232 Unspecified -Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome skos:exactMatch OMIM:300232 Unspecified -Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome skos:exactMatch UMLS:C1970840 Unspecified -Orphanet:217560 Neuroendocrine cell hyperplasia of infancy oboInOwl:hasDbXref UMLS:C3161105 Unspecified -Orphanet:217560 Neuroendocrine cell hyperplasia of infancy skos:exactMatch UMLS:C3161105 Unspecified -Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency oboInOwl:hasDbXref OMIM:610913 Unspecified -Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency oboInOwl:hasDbXref ICD10:J84.8 Unspecified -Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency skos:broadMatch OMIM:610913 Unspecified -Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency skos:broadMatch ICD10:J84.8 Unspecified -Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref MedDRA:10056447 Unspecified -Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref UMLS:C0032001 Unspecified -Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref MESH:D010899 Unspecified -Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref ICD10:E23.6 Unspecified -Orphanet:95613 Pituitary apoplexy skos:broadMatch ICD10:E23.6 Unspecified -Orphanet:95613 Pituitary apoplexy skos:exactMatch MedDRA:10056447 Unspecified -Orphanet:95613 Pituitary apoplexy skos:exactMatch UMLS:C0032001 Unspecified -Orphanet:95613 Pituitary apoplexy skos:exactMatch MESH:D010899 Unspecified -Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref ICD10:P28.0 Unspecified -Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref OMIM:265120 Unspecified -Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency skos:broadMatch ICD10:P28.0 Unspecified -Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency skos:exactMatch OMIM:265120 Unspecified -Orphanet:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref OMIM:615033 Unspecified -Orphanet:320380 Autosomal recessive spastic paraplegia type 54 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:320380 Autosomal recessive spastic paraplegia type 54 skos:exactMatch OMIM:615033 Unspecified -Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref OMIM:615222 Unspecified -Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref OMIM:607326 Unspecified -Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref UMLS:C1846431 Unspecified -Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:178355 Smith-McCort dysplasia skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:178355 Smith-McCort dysplasia skos:narrowMatch OMIM:615222 Unspecified -Orphanet:178355 Smith-McCort dysplasia skos:narrowMatch OMIM:607326 Unspecified -Orphanet:178355 Smith-McCort dysplasia skos:exactMatch UMLS:C1846431 Unspecified -Orphanet:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref OMIM:201400 Unspecified -Orphanet:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 Unspecified -Orphanet:199296 Congenital isolated ACTH deficiency skos:broadMatch ICD10:E23.6 Unspecified -Orphanet:199296 Congenital isolated ACTH deficiency skos:exactMatch OMIM:201400 Unspecified -Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref OMIM:610370 Unspecified -Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref ICD10:P78.3 Unspecified -Orphanet:83620 Enteric anendocrinosis skos:exactMatch OMIM:610370 Unspecified -Orphanet:83620 Enteric anendocrinosis skos:broadMatch ICD10:P78.3 Unspecified -Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref OMIM:615031 Unspecified -Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation skos:exactMatch OMIM:615031 Unspecified -Orphanet:199299 Late-onset isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 Unspecified -Orphanet:199299 Late-onset isolated ACTH deficiency skos:broadMatch ICD10:E23.6 Unspecified -Orphanet:95619 Post-traumatic pituitary deficiency oboInOwl:hasDbXref ICD10:E23.1 Unspecified -Orphanet:95619 Post-traumatic pituitary deficiency skos:broadMatch ICD10:E23.1 Unspecified -Orphanet:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref OMIM:614338 Unspecified -Orphanet:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref UMLS:C0268241 Unspecified -Orphanet:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref ICD10:K90.3 Unspecified -Orphanet:309108 Pancreatic colipase deficiency skos:broadMatch OMIM:614338 Unspecified -Orphanet:309108 Pancreatic colipase deficiency skos:broadMatch ICD10:K90.3 Unspecified -Orphanet:309108 Pancreatic colipase deficiency skos:exactMatch UMLS:C0268241 Unspecified -Orphanet:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref OMIM:610356 Unspecified -Orphanet:209932 Cone dystrophy with supernormal rod response skos:exactMatch OMIM:610356 Unspecified -Orphanet:209932 Cone dystrophy with supernormal rod response skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref OMIM:610293 Unspecified -Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref UMLS:C1853205 Unspecified -Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch UMLS:C1853205 Unspecified -Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch OMIM:610293 Unspecified -Orphanet:324737 SRD5A3-CDG oboInOwl:hasDbXref UMLS:C3150191 Unspecified -Orphanet:324737 SRD5A3-CDG oboInOwl:hasDbXref OMIM:612379 Unspecified -Orphanet:324737 SRD5A3-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:324737 SRD5A3-CDG skos:exactMatch OMIM:612379 Unspecified -Orphanet:324737 SRD5A3-CDG skos:exactMatch UMLS:C3150191 Unspecified -Orphanet:324737 SRD5A3-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref OMIM:616192 Unspecified -Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:exactMatch OMIM:616192 Unspecified -Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency oboInOwl:hasDbXref OMIM:612260 Unspecified -Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency oboInOwl:hasDbXref UMLS:C2677092 Unspecified -Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency skos:exactMatch OMIM:612260 Unspecified -Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency skos:exactMatch UMLS:C2677092 Unspecified -Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance oboInOwl:hasDbXref OMIM:616209 Unspecified -Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance skos:exactMatch OMIM:616209 Unspecified -Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref ICD10:G90.8 Unspecified -Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref MESH:C535634 Unspecified -Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref UMLS:C2029348 Unspecified -Orphanet:199282 Harlequin syndrome skos:exactMatch MESH:C535634 Unspecified -Orphanet:199282 Harlequin syndrome skos:exactMatch UMLS:C2029348 Unspecified -Orphanet:199282 Harlequin syndrome skos:broadMatch ICD10:G90.8 Unspecified -Orphanet:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref OMIM:615043 Unspecified -Orphanet:320370 Autosomal recessive spastic paraplegia type 43 skos:exactMatch OMIM:615043 Unspecified -Orphanet:320370 Autosomal recessive spastic paraplegia type 43 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref OMIM:115300 Unspecified -Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref OMIM:277350 Unspecified -Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref ICD10:E50.8 Unspecified -Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch OMIM:115300 Unspecified -Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency skos:broadMatch ICD10:E50.8 Unspecified -Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency skos:narrowMatch OMIM:277350 Unspecified -Orphanet:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref OMIM:615035 Unspecified -Orphanet:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320375 Autosomal recessive spastic paraplegia type 55 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:320375 Autosomal recessive spastic paraplegia type 55 skos:exactMatch OMIM:615035 Unspecified -Orphanet:217557 Pulmonary interstitial glycogenosis oboInOwl:hasDbXref ICD10:P22.8 Unspecified -Orphanet:217557 Pulmonary interstitial glycogenosis skos:broadMatch ICD10:P22.8 Unspecified -Orphanet:35125 Epidermal nevus syndrome oboInOwl:hasDbXref UMLS:C0334082 Unspecified -Orphanet:35125 Epidermal nevus syndrome oboInOwl:hasDbXref MESH:C536114 Unspecified -Orphanet:35125 Epidermal nevus syndrome oboInOwl:hasDbXref MESH:D054000 Unspecified -Orphanet:35125 Epidermal nevus syndrome oboInOwl:hasDbXref MedDRA:10014985 Unspecified -Orphanet:35125 Epidermal nevus syndrome oboInOwl:hasDbXref ICD10:Q85.8 Unspecified -Orphanet:35125 Epidermal nevus syndrome skos:exactMatch MedDRA:10014985 Unspecified -Orphanet:35125 Epidermal nevus syndrome skos:exactMatch UMLS:C0334082 Unspecified -Orphanet:35125 Epidermal nevus syndrome skos:broadMatch ICD10:Q85.8 Unspecified -Orphanet:35125 Epidermal nevus syndrome skos:exactMatch MESH:D054000 Unspecified -Orphanet:35125 Epidermal nevus syndrome skos:exactMatch MESH:C536114 Unspecified -Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref OMIM:618484 Unspecified -Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 Unspecified -Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita skos:broadMatch ICD10:Q74.3 Unspecified -Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita skos:exactMatch OMIM:618484 Unspecified -Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MedDRA:10066387 Unspecified -Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref UMLS:C1283620 Unspecified -Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref ICD10:E74.3 Unspecified -Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MESH:C538139 Unspecified -Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref OMIM:222900 Unspecified -Orphanet:35122 Congenital sucrase-isomaltase deficiency skos:exactMatch UMLS:C1283620 Unspecified -Orphanet:35122 Congenital sucrase-isomaltase deficiency skos:exactMatch MedDRA:10066387 Unspecified -Orphanet:35122 Congenital sucrase-isomaltase deficiency skos:broadMatch ICD10:E74.3 Unspecified -Orphanet:35122 Congenital sucrase-isomaltase deficiency skos:exactMatch OMIM:222900 Unspecified -Orphanet:35122 Congenital sucrase-isomaltase deficiency skos:exactMatch MESH:C538139 Unspecified -Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref OMIM:200950 Unspecified -Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref ICD10:E83.3 Unspecified -Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref UMLS:C0268410 Unspecified -Orphanet:35121 Lysosomal acid phosphatase deficiency skos:exactMatch UMLS:C0268410 Unspecified -Orphanet:35121 Lysosomal acid phosphatase deficiency skos:broadMatch ICD10:E83.3 Unspecified -Orphanet:35121 Lysosomal acid phosphatase deficiency skos:exactMatch OMIM:200950 Unspecified -Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref UMLS:C1849507 Unspecified -Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref ICD10:D55.3 Unspecified -Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref OMIM:266120 Unspecified -Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:broadMatch ICD10:D55.3 Unspecified -Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch OMIM:266120 Unspecified -Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch UMLS:C1849507 Unspecified -Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function oboInOwl:hasDbXref ICD10:E03.1 Unspecified -Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:broadMatch ICD10:E03.1 Unspecified -Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.8 Unspecified -Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.2 Unspecified -Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.0 Unspecified -Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.6 Unspecified -Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.4 Unspecified -Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref UMLS:C0014175 Unspecified -Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.9 Unspecified -Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.1 Unspecified -Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.5 Unspecified -Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.3 Unspecified -Orphanet:137820 Extrapelvic endometriosis skos:exactMatch UMLS:C0014175 Unspecified -Orphanet:137820 Extrapelvic endometriosis skos:narrowMatch ICD10:N80.5 Unspecified -Orphanet:137820 Extrapelvic endometriosis skos:narrowMatch ICD10:N80.1 Unspecified -Orphanet:137820 Extrapelvic endometriosis skos:narrowMatch ICD10:N80.3 Unspecified -Orphanet:137820 Extrapelvic endometriosis skos:narrowMatch ICD10:N80.9 Unspecified -Orphanet:137820 Extrapelvic endometriosis skos:narrowMatch ICD10:N80.6 Unspecified -Orphanet:137820 Extrapelvic endometriosis skos:narrowMatch ICD10:N80.8 Unspecified -Orphanet:137820 Extrapelvic endometriosis skos:narrowMatch ICD10:N80.2 Unspecified -Orphanet:137820 Extrapelvic endometriosis skos:narrowMatch ICD10:N80.4 Unspecified -Orphanet:137820 Extrapelvic endometriosis skos:narrowMatch ICD10:N80.0 Unspecified -Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:48435 Postinfectious vasculitis oboInOwl:hasDbXref ICD10:I77.6 Unspecified -Orphanet:48435 Postinfectious vasculitis skos:broadMatch ICD10:I77.6 Unspecified -Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q68.8 Unspecified -Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref OMIM:608837 Unspecified -Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref UMLS:C1837245 Unspecified -Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome skos:exactMatch UMLS:C1837245 Unspecified -Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome skos:exactMatch OMIM:608837 Unspecified -Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome skos:broadMatch ICD10:Q68.8 Unspecified -Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:603457 Unspecified -Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.0 Unspecified -Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:broadMatch ICD10:Q87.0 Unspecified -Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:broadMatch OMIM:603457 Unspecified -Orphanet:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref OMIM:615537 Unspecified -Orphanet:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref UMLS:C0406811 Unspecified -Orphanet:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref ICD10:L81.8 Unspecified -Orphanet:178307 Reticulate acropigmentation of Kitamura skos:exactMatch UMLS:C0406811 Unspecified -Orphanet:178307 Reticulate acropigmentation of Kitamura skos:broadMatch ICD10:L81.8 Unspecified -Orphanet:178307 Reticulate acropigmentation of Kitamura skos:exactMatch OMIM:615537 Unspecified -Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref MedDRA:10065552 Unspecified -Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref MESH:D057831 Unspecified -Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref ICD10:J03.8 Unspecified -Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref UMLS:C0343525 Unspecified -Orphanet:137839 Lemierre syndrome skos:broadMatch ICD10:J03.8 Unspecified -Orphanet:137839 Lemierre syndrome skos:exactMatch MedDRA:10065552 Unspecified -Orphanet:137839 Lemierre syndrome skos:exactMatch MESH:D057831 Unspecified -Orphanet:137839 Lemierre syndrome skos:exactMatch UMLS:C0343525 Unspecified -Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs oboInOwl:hasDbXref ICD10:P72.2 Unspecified -Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs skos:broadMatch ICD10:P72.2 Unspecified -Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS:C1275278 Unspecified -Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref OMIM:612237 Unspecified -Orphanet:209916 Extraskeletal myxoid chondrosarcoma skos:exactMatch OMIM:612237 Unspecified -Orphanet:209916 Extraskeletal myxoid chondrosarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:209916 Extraskeletal myxoid chondrosarcoma skos:exactMatch UMLS:C1275278 Unspecified -Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref UMLS:C2931644 Unspecified -Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref OMIM:136520 Unspecified -Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref ICD10:H26.0 Unspecified -Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome skos:broadMatch OMIM:136520 Unspecified -Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome skos:broadMatch ICD10:H26.0 Unspecified -Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome skos:exactMatch UMLS:C2931644 Unspecified -Orphanet:319325 Tubulocystic renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:319325 Tubulocystic renal cell carcinoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:226316 Genetic transient congenital hypothyroidism oboInOwl:hasDbXref ICD10:P72.2 Unspecified -Orphanet:226316 Genetic transient congenital hypothyroidism skos:broadMatch ICD10:P72.2 Unspecified -Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref UMLS:C2931296 Unspecified -Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref OMIM:600001 Unspecified -Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch OMIM:600001 Unspecified -Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch UMLS:C2931296 Unspecified -Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q04.3 Unspecified -Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref OMIM:300486 Unspecified -Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref UMLS:C1845366 Unspecified -Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch UMLS:C1845366 Unspecified -Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch OMIM:300486 Unspecified -Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:broadMatch ICD10:Q04.3 Unspecified -Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref UMLS:C1855305 Unspecified -Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref OMIM:249420 Unspecified -Orphanet:137834 Frank-Ter Haar syndrome skos:exactMatch OMIM:249420 Unspecified -Orphanet:137834 Frank-Ter Haar syndrome skos:exactMatch UMLS:C1855305 Unspecified -Orphanet:137834 Frank-Ter Haar syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:247245 Superficial siderosis oboInOwl:hasDbXref ICD10:I69.0 Unspecified -Orphanet:247245 Superficial siderosis skos:broadMatch ICD10:I69.0 Unspecified -Orphanet:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref ICD10:K74.6 Unspecified -Orphanet:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref OMIM:215600 Unspecified -Orphanet:209919 Idiopathic copper-associated cirrhosis skos:broadMatch OMIM:215600 Unspecified -Orphanet:209919 Idiopathic copper-associated cirrhosis skos:broadMatch ICD10:K74.6 Unspecified -Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref UMLS:C2930806 Unspecified -Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref UMLS:C0006430 Unspecified -Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref ICD10:K14.6 Unspecified -Orphanet:353253 Burning mouth syndrome skos:exactMatch UMLS:C0006430 Unspecified -Orphanet:353253 Burning mouth syndrome skos:exactMatch UMLS:C2930806 Unspecified -Orphanet:353253 Burning mouth syndrome skos:narrowMatch ICD10:K14.6 Unspecified -Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency oboInOwl:hasDbXref OMIM:617575 Unspecified -Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency skos:exactMatch OMIM:617575 Unspecified -Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:404507 Chondromyxoid fibroma oboInOwl:hasDbXref ICD10:D16.9 Unspecified -Orphanet:404507 Chondromyxoid fibroma oboInOwl:hasDbXref UMLS:C0221290 Unspecified -Orphanet:404507 Chondromyxoid fibroma skos:exactMatch UMLS:C0221290 Unspecified -Orphanet:404507 Chondromyxoid fibroma skos:broadMatch ICD10:D16.9 Unspecified -Orphanet:238305 Infundibulo-neurohypophysitis oboInOwl:hasDbXref ICD10:E23.6 Unspecified -Orphanet:238305 Infundibulo-neurohypophysitis skos:broadMatch ICD10:E23.6 Unspecified -Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.3 Unspecified -Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:607602 Unspecified -Orphanet:281139 Annular epidermolytic ichthyosis skos:broadMatch ICD10:Q80.3 Unspecified -Orphanet:281139 Annular epidermolytic ichthyosis skos:exactMatch OMIM:607602 Unspecified -Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref OMIM:242510 Unspecified -Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1855788 Unspecified -Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch OMIM:242510 Unspecified -Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch UMLS:C1855788 Unspecified -Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref OMIM:614700 Unspecified -Orphanet:445018 Combined immunodeficiency due to LRBA deficiency skos:exactMatch OMIM:614700 Unspecified -Orphanet:445018 Combined immunodeficiency due to LRBA deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref ICD10:E03.1 Unspecified -Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref UMLS:C1970269 Unspecified -Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref OMIM:610978 Unspecified -Orphanet:209905 Brain-lung-thyroid syndrome skos:broadMatch ICD10:E03.1 Unspecified -Orphanet:209905 Brain-lung-thyroid syndrome skos:exactMatch OMIM:610978 Unspecified -Orphanet:209905 Brain-lung-thyroid syndrome skos:exactMatch UMLS:C1970269 Unspecified -Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E78.0 Unspecified -Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:broadMatch ICD10:E78.0 Unspecified -Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref ICD10:A22.1 Unspecified -Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref UMLS:C0155866 Unspecified -Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref MedDRA:10035667 Unspecified -Orphanet:247257 Inhalational anthrax skos:exactMatch UMLS:C0155866 Unspecified -Orphanet:247257 Inhalational anthrax skos:broadMatch ICD10:A22.1 Unspecified -Orphanet:247257 Inhalational anthrax skos:exactMatch MedDRA:10035667 Unspecified -Orphanet:168999 Malignant melanoma of the mucosa oboInOwl:hasDbXref ICD10:C43.9 Unspecified -Orphanet:209908 Childhood apraxia of speech oboInOwl:hasDbXref OMIM:602081 Unspecified -Orphanet:209908 Childhood apraxia of speech oboInOwl:hasDbXref ICD10:F80.0 Unspecified -Orphanet:209908 Childhood apraxia of speech skos:broadMatch ICD10:F80.0 Unspecified -Orphanet:209908 Childhood apraxia of speech skos:exactMatch OMIM:602081 Unspecified -Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ Unspecified -Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref OMIM:105250 Unspecified -Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref OMIM:613955 Unspecified -Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* Unspecified -Orphanet:353220 Familial primary localized cutaneous amyloidosis skos:broadMatch ICD10:L99.0* Unspecified -Orphanet:353220 Familial primary localized cutaneous amyloidosis skos:narrowMatch OMIM:613955 Unspecified -Orphanet:353220 Familial primary localized cutaneous amyloidosis skos:exactMatch OMIM:105250 Unspecified -Orphanet:353220 Familial primary localized cutaneous amyloidosis skos:broadMatch ICD10:E85.4+ Unspecified -Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref MedDRA:10035154 Unspecified -Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref UMLS:C0158360 Unspecified -Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref MESH:C537000 Unspecified -Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref ICD10:M72.2 Unspecified -Orphanet:199251 Ledderhose disease skos:exactMatch MedDRA:10035154 Unspecified -Orphanet:199251 Ledderhose disease skos:exactMatch MESH:C537000 Unspecified -Orphanet:199251 Ledderhose disease skos:exactMatch UMLS:C0158360 Unspecified -Orphanet:199251 Ledderhose disease skos:exactMatch ICD10:M72.2 Unspecified -Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers oboInOwl:hasDbXref OMIM:618414 Unspecified -Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers skos:exactMatch OMIM:618414 Unspecified -Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:178311 Isolated sternocostoclavicular hyperostosis oboInOwl:hasDbXref UMLS:C0020499 Unspecified -Orphanet:178311 Isolated sternocostoclavicular hyperostosis oboInOwl:hasDbXref ICD10:M85.8 Unspecified -Orphanet:178311 Isolated sternocostoclavicular hyperostosis skos:broadMatch ICD10:M85.8 Unspecified -Orphanet:178311 Isolated sternocostoclavicular hyperostosis skos:exactMatch UMLS:C0020499 Unspecified -Orphanet:178315 Undifferentiated embryonal sarcoma of the liver oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:178315 Undifferentiated embryonal sarcoma of the liver skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:619176 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:617743 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:619011 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:616780 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:619009 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref ICD10:N97.8 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:617743 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:616780 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:619011 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:619176 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:619009 Unspecified -Orphanet:488191 Female infertility due to oocyte meiotic arrest skos:broadMatch ICD10:N97.8 Unspecified -Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref MESH:C536085 Unspecified -Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref OMIM:619016 Unspecified -Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref UMLS:C1839988 Unspecified -Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref OMIM:308205 Unspecified -Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome skos:exactMatch UMLS:C1839988 Unspecified -Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome skos:narrowMatch OMIM:619016 Unspecified -Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome skos:exactMatch MESH:C536085 Unspecified -Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome skos:narrowMatch OMIM:308205 Unspecified -Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome oboInOwl:hasDbXref UMLS:C1275088 Unspecified -Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome oboInOwl:hasDbXref OMIM:242520 Unspecified -Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch OMIM:242520 Unspecified -Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch UMLS:C1275088 Unspecified -Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref ICD10:Q13.8 Unspecified -Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref OMIM:616722 Unspecified -Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:exactMatch OMIM:616722 Unspecified -Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:broadMatch ICD10:Q13.8 Unspecified -Orphanet:424107 Congenital myopathy with myasthenic-like onset oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:424107 Congenital myopathy with myasthenic-like onset skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref UMLS:C0003708 Unspecified -Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref MedDRA:10003074 Unspecified -Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref ICD10:G03.9 Unspecified -Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref OMIM:182950 Unspecified -Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref UMLS:C0270617 Unspecified -Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref MESH:D001100 Unspecified -Orphanet:137817 Arachnoiditis skos:narrowMatch OMIM:182950 Unspecified -Orphanet:137817 Arachnoiditis skos:exactMatch MESH:D001100 Unspecified -Orphanet:137817 Arachnoiditis skos:exactMatch UMLS:C0270617 Unspecified -Orphanet:137817 Arachnoiditis skos:broadMatch ICD10:G03.9 Unspecified -Orphanet:137817 Arachnoiditis skos:exactMatch UMLS:C0003708 Unspecified -Orphanet:137817 Arachnoiditis skos:exactMatch MedDRA:10003074 Unspecified -Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref ICD10:L99.0* Unspecified -Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ Unspecified -Orphanet:137814 Macular amyloidosis skos:broadMatch ICD10:L99.0* Unspecified -Orphanet:137814 Macular amyloidosis skos:broadMatch ICD10:E85.4+ Unspecified -Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* Unspecified -Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref UMLS:C0546394 Unspecified -Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ Unspecified -Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref MedDRA:10056953 Unspecified -Orphanet:137810 Nodular cutaneous amyloidosis skos:exactMatch MedDRA:10056953 Unspecified -Orphanet:137810 Nodular cutaneous amyloidosis skos:broadMatch ICD10:E85.4+ Unspecified -Orphanet:137810 Nodular cutaneous amyloidosis skos:exactMatch UMLS:C0546394 Unspecified -Orphanet:137810 Nodular cutaneous amyloidosis skos:broadMatch ICD10:L99.0* Unspecified -Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref UMLS:C0340548 Unspecified -Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref OMIM:234810 Unspecified -Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref MESH:C535861 Unspecified -Orphanet:199241 Pulmonary capillary hemangiomatosis skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:199241 Pulmonary capillary hemangiomatosis skos:exactMatch MESH:C535861 Unspecified -Orphanet:199241 Pulmonary capillary hemangiomatosis skos:narrowMatch OMIM:234810 Unspecified -Orphanet:199241 Pulmonary capillary hemangiomatosis skos:exactMatch UMLS:C0340548 Unspecified -Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref OMIM:617054 Unspecified -Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome skos:exactMatch OMIM:617054 Unspecified -Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:566841 Liver adenomatosis oboInOwl:hasDbXref ICD10:D13.4 Unspecified -Orphanet:566841 Liver adenomatosis skos:broadMatch ICD10:D13.4 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:614749 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:239300 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1855923 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616025 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615716 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616809 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:614207 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:239300 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:614749 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:615716 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome skos:exactMatch UMLS:C1855923 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:616025 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:614207 Unspecified -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:616809 Unspecified -Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref OMIM:611489 Unspecified -Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref ICD10:E27.8 Unspecified -Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref UMLS:C1852529 Unspecified -Orphanet:199247 Corticosteroid-binding globulin deficiency skos:exactMatch UMLS:C1852529 Unspecified -Orphanet:199247 Corticosteroid-binding globulin deficiency skos:exactMatch OMIM:611489 Unspecified -Orphanet:199247 Corticosteroid-binding globulin deficiency skos:broadMatch ICD10:E27.8 Unspecified -Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref UMLS:C1836010 Unspecified -Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref OMIM:609541 Unspecified -Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome skos:exactMatch UMLS:C1836010 Unspecified -Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome skos:exactMatch OMIM:609541 Unspecified -Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref OMIM:300816 Unspecified -Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy skos:exactMatch OMIM:300816 Unspecified -Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 Unspecified -Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.1 Unspecified -Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract skos:narrowMatch ICD10:C22.1 Unspecified -Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract skos:narrowMatch ICD10:C22.0 Unspecified -Orphanet:922 Familial nasal acilia oboInOwl:hasDbXref ICD10:Q30.8 Unspecified -Orphanet:922 Familial nasal acilia skos:broadMatch ICD10:Q30.8 Unspecified -Orphanet:59135 Laing early-onset distal myopathy oboInOwl:hasDbXref OMIM:160500 Unspecified -Orphanet:59135 Laing early-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:59135 Laing early-onset distal myopathy skos:exactMatch OMIM:160500 Unspecified -Orphanet:59135 Laing early-onset distal myopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:613722 Unspecified -Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref ICD10:G40.0 Unspecified -Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:615338 Unspecified -Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:614959 Unspecified -Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:616645 Unspecified -Orphanet:293181 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:613722 Unspecified -Orphanet:293181 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:614959 Unspecified -Orphanet:293181 Malignant migrating focal seizures of infancy skos:broadMatch ICD10:G40.0 Unspecified -Orphanet:293181 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:616645 Unspecified -Orphanet:293181 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:615338 Unspecified -Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref OMIM:301054 Unspecified -Orphanet:596753 VEXAS syndrome skos:exactMatch OMIM:301054 Unspecified -Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 Unspecified -Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref OMIM:609352 Unspecified -Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref UMLS:C1836284 Unspecified -Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema skos:exactMatch UMLS:C1836284 Unspecified -Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema skos:exactMatch OMIM:609352 Unspecified -Orphanet:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:609165 Unspecified -Orphanet:281190 Congenital reticular ichthyosiform erythroderma skos:exactMatch OMIM:609165 Unspecified -Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref OMIM:601820 Unspecified -Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:broadMatch OMIM:601820 Unspecified -Orphanet:398117 Neonatal dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 Unspecified -Orphanet:398117 Neonatal dermatomyositis skos:broadMatch ICD10:M33.1 Unspecified -Orphanet:926 Acatalasemia oboInOwl:hasDbXref UMLS:C2931868 Unspecified -Orphanet:926 Acatalasemia oboInOwl:hasDbXref ICD10:E80.3 Unspecified -Orphanet:926 Acatalasemia oboInOwl:hasDbXref OMIM:614097 Unspecified -Orphanet:926 Acatalasemia oboInOwl:hasDbXref UMLS:C0268419 Unspecified -Orphanet:926 Acatalasemia skos:exactMatch UMLS:C0268419 Unspecified -Orphanet:926 Acatalasemia skos:exactMatch OMIM:614097 Unspecified -Orphanet:926 Acatalasemia skos:exactMatch ICD10:E80.3 Unspecified -Orphanet:926 Acatalasemia skos:exactMatch UMLS:C2931868 Unspecified -Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis oboInOwl:hasDbXref ICD10:M08.8 Unspecified -Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis skos:broadMatch ICD10:M08.8 Unspecified -Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref UMLS:C1845862 Unspecified -Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref OMIM:300352 Unspecified -Orphanet:52503 X-linked creatine transporter deficiency skos:exactMatch OMIM:300352 Unspecified -Orphanet:52503 X-linked creatine transporter deficiency skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:52503 X-linked creatine transporter deficiency skos:exactMatch UMLS:C1845862 Unspecified -Orphanet:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref OMIM:609638 Unspecified -Orphanet:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref MESH:C535493 Unspecified -Orphanet:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref UMLS:C1864826 Unspecified -Orphanet:158687 Lethal acantholytic erosive disorder skos:exactMatch MESH:C535493 Unspecified -Orphanet:158687 Lethal acantholytic erosive disorder skos:exactMatch UMLS:C1864826 Unspecified -Orphanet:158687 Lethal acantholytic erosive disorder skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:158687 Lethal acantholytic erosive disorder skos:exactMatch OMIM:609638 Unspecified -Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref OMIM:613206 Unspecified -Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref UMLS:C2750784 Unspecified -Orphanet:320401 Autosomal recessive spastic paraplegia type 44 skos:exactMatch UMLS:C2750784 Unspecified -Orphanet:320401 Autosomal recessive spastic paraplegia type 44 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:320401 Autosomal recessive spastic paraplegia type 44 skos:exactMatch OMIM:613206 Unspecified -Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref ICD10:E72.2 Unspecified -Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref UMLS:C0268543 Unspecified -Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref OMIM:237310 Unspecified -Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch OMIM:237310 Unspecified -Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch UMLS:C0268543 Unspecified -Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency skos:broadMatch ICD10:E72.2 Unspecified -Orphanet:251307 Idiopathic recurrent pericarditis oboInOwl:hasDbXref ICD10:I09.2 Unspecified -Orphanet:251307 Idiopathic recurrent pericarditis skos:broadMatch ICD10:I09.2 Unspecified -Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref UMLS:C2677349 Unspecified -Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref OMIM:612138 Unspecified -Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia skos:exactMatch UMLS:C2677349 Unspecified -Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia skos:exactMatch OMIM:612138 Unspecified -Orphanet:171673 Limbal stem cell deficiency oboInOwl:hasDbXref UMLS:C1561989 Unspecified -Orphanet:171673 Limbal stem cell deficiency skos:exactMatch UMLS:C1561989 Unspecified -Orphanet:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref OMIM:614034 Unspecified -Orphanet:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:562509 Heme oxygenase-1 deficiency skos:exactMatch OMIM:614034 Unspecified -Orphanet:562509 Heme oxygenase-1 deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:L40.5+ Unspecified -Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M09.0* Unspecified -Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C0409672 Unspecified -Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis skos:exactMatch UMLS:C0409672 Unspecified -Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis skos:broadMatch ICD10:M09.0* Unspecified -Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis skos:broadMatch ICD10:L40.5+ Unspecified -Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref OMIM:269840 Unspecified -Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref UMLS:C2931299 Unspecified -Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency skos:exactMatch OMIM:269840 Unspecified -Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency skos:exactMatch UMLS:C2931299 Unspecified -Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 Unspecified -Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C3495919 Unspecified -Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis skos:broadMatch ICD10:M08.8 Unspecified -Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis skos:exactMatch UMLS:C3495919 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278780 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref UMLS:C0043346 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref MedDRA:10048220 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref MESH:D014983 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278720 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278760 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278740 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278700 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:194400 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278730 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:610651 Unspecified -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref ICD10:Q82.1 Unspecified -Orphanet:910 Xeroderma pigmentosum skos:exactMatch ICD10:Q82.1 Unspecified -Orphanet:910 Xeroderma pigmentosum skos:narrowMatch OMIM:278780 Unspecified -Orphanet:910 Xeroderma pigmentosum skos:narrowMatch OMIM:278760 Unspecified -Orphanet:910 Xeroderma pigmentosum skos:narrowMatch OMIM:278740 Unspecified -Orphanet:910 Xeroderma pigmentosum skos:narrowMatch OMIM:278720 Unspecified -Orphanet:910 Xeroderma pigmentosum skos:narrowMatch OMIM:278700 Unspecified -Orphanet:910 Xeroderma pigmentosum skos:narrowMatch OMIM:610651 Unspecified -Orphanet:910 Xeroderma pigmentosum skos:exactMatch UMLS:C0043346 Unspecified -Orphanet:910 Xeroderma pigmentosum skos:narrowMatch OMIM:278730 Unspecified -Orphanet:910 Xeroderma pigmentosum skos:exactMatch MedDRA:10048220 Unspecified -Orphanet:910 Xeroderma pigmentosum skos:exactMatch MESH:D014983 Unspecified -Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref UMLS:C0877055 Unspecified -Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref UMLS:C0853331 Unspecified -Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref MedDRA:10048799 Unspecified -Orphanet:293173 Acute generalized exanthematous pustulosis skos:exactMatch MedDRA:10048799 Unspecified -Orphanet:293173 Acute generalized exanthematous pustulosis skos:exactMatch UMLS:C0853331 Unspecified -Orphanet:293173 Acute generalized exanthematous pustulosis skos:exactMatch UMLS:C0877055 Unspecified -Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0282102 Unspecified -Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 Unspecified -Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref OMIM:302960 Unspecified -Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0263627 Unspecified -Orphanet:35173 X-linked dominant chondrodysplasia punctata skos:exactMatch OMIM:302960 Unspecified -Orphanet:35173 X-linked dominant chondrodysplasia punctata skos:exactMatch UMLS:C0263627 Unspecified -Orphanet:35173 X-linked dominant chondrodysplasia punctata skos:broadMatch ICD10:Q77.3 Unspecified -Orphanet:35173 X-linked dominant chondrodysplasia punctata skos:exactMatch UMLS:C0282102 Unspecified -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref UMLS:C1835922 Unspecified -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref OMIM:609924 Unspecified -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency skos:exactMatch UMLS:C1835922 Unspecified -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency skos:exactMatch OMIM:609924 Unspecified -Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 Unspecified -Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref UMLS:C0409979 Unspecified -Orphanet:398124 Neonatal lupus erythematosus skos:exactMatch UMLS:C0409979 Unspecified -Orphanet:398124 Neonatal lupus erythematosus skos:broadMatch ICD10:M32.8 Unspecified -Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref UMLS:C0268435 Unspecified -Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref OMIM:179830 Unspecified -Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 Unspecified -Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref MedDRA:10037080 Unspecified -Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref OMIM:604278 Unspecified -Orphanet:47159 Proximal renal tubular acidosis skos:broadMatch ICD10:N25.8 Unspecified -Orphanet:47159 Proximal renal tubular acidosis skos:narrowMatch OMIM:604278 Unspecified -Orphanet:47159 Proximal renal tubular acidosis skos:exactMatch UMLS:C0268435 Unspecified -Orphanet:47159 Proximal renal tubular acidosis skos:exactMatch MedDRA:10037080 Unspecified -Orphanet:47159 Proximal renal tubular acidosis skos:exactMatch OMIM:179830 Unspecified -Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref OMIM:273740 Unspecified -Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref ICD10:Q77.2 Unspecified -Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref UMLS:C2931227 Unspecified -Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref UMLS:C1848863 Unspecified -Orphanet:1803 Thoracomelic dysplasia skos:exactMatch UMLS:C1848863 Unspecified -Orphanet:1803 Thoracomelic dysplasia skos:broadMatch ICD10:Q77.2 Unspecified -Orphanet:1803 Thoracomelic dysplasia skos:exactMatch UMLS:C2931227 Unspecified -Orphanet:1803 Thoracomelic dysplasia skos:exactMatch OMIM:273740 Unspecified -Orphanet:398127 Neonatal scleroderma oboInOwl:hasDbXref ICD10:P83.8 Unspecified -Orphanet:398127 Neonatal scleroderma skos:broadMatch ICD10:P83.8 Unspecified -Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref MESH:D015408 Unspecified -Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref ICD10:E16.4 Unspecified -Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref MedDRA:10017852 Unspecified -Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref MESH:D015043 Unspecified -Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref UMLS:C0043515 Unspecified -Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref UMLS:C0017150 Unspecified -Orphanet:913 Zollinger-Ellison syndrome skos:exactMatch UMLS:C0017150 Unspecified -Orphanet:913 Zollinger-Ellison syndrome skos:exactMatch UMLS:C0043515 Unspecified -Orphanet:913 Zollinger-Ellison syndrome skos:exactMatch MESH:D015043 Unspecified -Orphanet:913 Zollinger-Ellison syndrome skos:exactMatch MedDRA:10017852 Unspecified -Orphanet:913 Zollinger-Ellison syndrome skos:exactMatch MESH:D015408 Unspecified -Orphanet:913 Zollinger-Ellison syndrome skos:broadMatch ICD10:E16.4 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614886 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614882 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614866 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614862 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614859 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:214110 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref UMLS:C0043459 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref MESH:D015211 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614887 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614883 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:617370 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614876 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614870 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614872 Unspecified -Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:214100 Unspecified -Orphanet:912 Zellweger syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:912 Zellweger syndrome skos:narrowMatch OMIM:214110 Unspecified -Orphanet:912 Zellweger syndrome skos:narrowMatch OMIM:614886 Unspecified -Orphanet:912 Zellweger syndrome skos:narrowMatch OMIM:614882 Unspecified -Orphanet:912 Zellweger syndrome skos:narrowMatch OMIM:614859 Unspecified -Orphanet:912 Zellweger syndrome skos:narrowMatch OMIM:614866 Unspecified -Orphanet:912 Zellweger syndrome skos:narrowMatch OMIM:614862 Unspecified -Orphanet:912 Zellweger syndrome skos:exactMatch OMIM:214100 Unspecified -Orphanet:912 Zellweger syndrome skos:broadMatch OMIM:617370 Unspecified -Orphanet:912 Zellweger syndrome skos:narrowMatch OMIM:614887 Unspecified -Orphanet:912 Zellweger syndrome skos:narrowMatch OMIM:614883 Unspecified -Orphanet:912 Zellweger syndrome skos:narrowMatch OMIM:614876 Unspecified -Orphanet:912 Zellweger syndrome skos:narrowMatch OMIM:614872 Unspecified -Orphanet:912 Zellweger syndrome skos:narrowMatch OMIM:614870 Unspecified -Orphanet:912 Zellweger syndrome skos:exactMatch MESH:D015211 Unspecified -Orphanet:912 Zellweger syndrome skos:exactMatch UMLS:C0043459 Unspecified -Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref OMIM:614228 Unspecified -Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O skos:exactMatch OMIM:614228 Unspecified -Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.0 Unspecified -Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:broadMatch ICD10:M08.0 Unspecified -Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref OMIM:181405 Unspecified -Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 Unspecified -Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0751335 Unspecified -Orphanet:431255 Scapuloperoneal spinal muscular atrophy skos:exactMatch UMLS:C0751335 Unspecified -Orphanet:431255 Scapuloperoneal spinal muscular atrophy skos:broadMatch ICD10:G12.1 Unspecified -Orphanet:431255 Scapuloperoneal spinal muscular atrophy skos:exactMatch OMIM:181405 Unspecified -Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.3 Unspecified -Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis skos:broadMatch ICD10:M08.3 Unspecified -Orphanet:171684 Idiopathic bilateral vestibulopathy oboInOwl:hasDbXref ICD10:H81.8 Unspecified -Orphanet:171684 Idiopathic bilateral vestibulopathy skos:broadMatch ICD10:H81.8 Unspecified -Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref OMIM:220120 Unspecified -Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref ICD10:E74.8 Unspecified -Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref MESH:C535767 Unspecified -Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref UMLS:C1291386 Unspecified -Orphanet:941 D-glyceric aciduria skos:broadMatch ICD10:E74.8 Unspecified -Orphanet:941 D-glyceric aciduria skos:exactMatch UMLS:C1291386 Unspecified -Orphanet:941 D-glyceric aciduria skos:exactMatch OMIM:220120 Unspecified -Orphanet:941 D-glyceric aciduria skos:exactMatch MESH:C535767 Unspecified -Orphanet:943 Malonic aciduria oboInOwl:hasDbXref OMIM:248360 Unspecified -Orphanet:943 Malonic aciduria oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:943 Malonic aciduria oboInOwl:hasDbXref UMLS:C0342793 Unspecified -Orphanet:943 Malonic aciduria oboInOwl:hasDbXref MESH:C535702 Unspecified -Orphanet:943 Malonic aciduria skos:exactMatch OMIM:248360 Unspecified -Orphanet:943 Malonic aciduria skos:exactMatch MESH:C535702 Unspecified -Orphanet:943 Malonic aciduria skos:exactMatch UMLS:C0342793 Unspecified -Orphanet:943 Malonic aciduria skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:73423 Acute ackee fruit intoxication oboInOwl:hasDbXref ICD10:T62.2 Unspecified -Orphanet:73423 Acute ackee fruit intoxication oboInOwl:hasDbXref UMLS:C0274888 Unspecified -Orphanet:73423 Acute ackee fruit intoxication skos:exactMatch UMLS:C0274888 Unspecified -Orphanet:73423 Acute ackee fruit intoxication skos:broadMatch ICD10:T62.2 Unspecified -Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref ICD10:D80.5 Unspecified -Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:605258 Unspecified -Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:608106 Unspecified -Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:608184 Unspecified -Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:broadMatch ICD10:D80.5 Unspecified -Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:narrowMatch OMIM:605258 Unspecified -Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:narrowMatch OMIM:608184 Unspecified -Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:narrowMatch OMIM:608106 Unspecified -Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:607655 Unspecified -Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch OMIM:607655 Unspecified -Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref ICD10:D80.5 Unspecified -Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:308230 Unspecified -Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:606843 Unspecified -Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections skos:narrowMatch OMIM:606843 Unspecified -Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections skos:narrowMatch OMIM:308230 Unspecified -Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections skos:broadMatch ICD10:D80.5 Unspecified -Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref UMLS:C2931441 Unspecified -Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref OMIM:607225 Unspecified -Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis skos:exactMatch OMIM:607225 Unspecified -Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis skos:exactMatch UMLS:C2931441 Unspecified -Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref ICD10:E25.0 Unspecified -Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref OMIM:613571 Unspecified -Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch OMIM:613571 Unspecified -Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:broadMatch ICD10:E25.0 Unspecified -Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref OMIM:604536 Unspecified -Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref MESH:C536183 Unspecified -Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref UMLS:C1858302 Unspecified -Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome skos:exactMatch UMLS:C1858302 Unspecified -Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome skos:exactMatch MESH:C536183 Unspecified -Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome skos:exactMatch OMIM:604536 Unspecified -Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref ICD10:M31.8 Unspecified -Orphanet:251325 Drug-induced vasculitis skos:broadMatch ICD10:M31.8 Unspecified -Orphanet:251328 Unclassified vasculitis oboInOwl:hasDbXref ICD10:I77.6 Unspecified -Orphanet:251328 Unclassified vasculitis skos:broadMatch ICD10:I77.6 Unspecified -Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref OMIM:168601 Unspecified -Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref OMIM:168100 Unspecified -Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref ICD10:G20 Unspecified -Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref UMLS:C1850100 Unspecified -Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref OMIM:260300 Unspecified -Orphanet:171695 Parkinsonian-pyramidal syndrome skos:broadMatch OMIM:168601 Unspecified -Orphanet:171695 Parkinsonian-pyramidal syndrome skos:narrowMatch OMIM:168100 Unspecified -Orphanet:171695 Parkinsonian-pyramidal syndrome skos:exactMatch UMLS:C1850100 Unspecified -Orphanet:171695 Parkinsonian-pyramidal syndrome skos:broadMatch ICD10:G20 Unspecified -Orphanet:171695 Parkinsonian-pyramidal syndrome skos:exactMatch OMIM:260300 Unspecified -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.2 Unspecified -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref OMIM:618795 Unspecified -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C1384600 Unspecified -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C0087031 Unspecified -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref OMIM:604302 Unspecified -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis skos:exactMatch OMIM:604302 Unspecified -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis skos:narrowMatch OMIM:618795 Unspecified -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis skos:exactMatch UMLS:C0087031 Unspecified -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis skos:exactMatch ICD10:M08.2 Unspecified -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis skos:exactMatch UMLS:C1384600 Unspecified -Orphanet:424943 Adenocarcinoma of the liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 Unspecified -Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref MESH:C536011 Unspecified -Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref MedDRA:10036669 Unspecified -Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref ICD10:K22.0 Unspecified -Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref OMIM:200400 Unspecified -Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref UMLS:C0859976 Unspecified -Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref UMLS:C0014848 Unspecified -Orphanet:930 Idiopathic achalasia skos:exactMatch UMLS:C0014848 Unspecified -Orphanet:930 Idiopathic achalasia skos:narrowMatch OMIM:200400 Unspecified -Orphanet:930 Idiopathic achalasia skos:exactMatch MedDRA:10036669 Unspecified -Orphanet:930 Idiopathic achalasia skos:exactMatch ICD10:K22.0 Unspecified -Orphanet:930 Idiopathic achalasia skos:exactMatch UMLS:C0859976 Unspecified -Orphanet:930 Idiopathic achalasia skos:exactMatch MESH:C536011 Unspecified -Orphanet:932 Achondrogenesis oboInOwl:hasDbXref UMLS:C0001079 Unspecified -Orphanet:932 Achondrogenesis oboInOwl:hasDbXref MedDRA:10066122 Unspecified -Orphanet:932 Achondrogenesis oboInOwl:hasDbXref OMIM:200610 Unspecified -Orphanet:932 Achondrogenesis oboInOwl:hasDbXref OMIM:600972 Unspecified -Orphanet:932 Achondrogenesis oboInOwl:hasDbXref OMIM:200600 Unspecified -Orphanet:932 Achondrogenesis oboInOwl:hasDbXref ICD10:Q77.0 Unspecified -Orphanet:932 Achondrogenesis skos:exactMatch ICD10:Q77.0 Unspecified -Orphanet:932 Achondrogenesis skos:narrowMatch OMIM:200610 Unspecified -Orphanet:932 Achondrogenesis skos:narrowMatch OMIM:200600 Unspecified -Orphanet:932 Achondrogenesis skos:exactMatch MedDRA:10066122 Unspecified -Orphanet:932 Achondrogenesis skos:narrowMatch OMIM:600972 Unspecified -Orphanet:932 Achondrogenesis skos:exactMatch UMLS:C0001079 Unspecified -Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref UMLS:C3279824 Unspecified -Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref ICD10:D80.8 Unspecified -Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref OMIM:614102 Unspecified -Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref UMLS:C0162539 Unspecified -Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch OMIM:614102 Unspecified -Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch UMLS:C0162539 Unspecified -Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch UMLS:C3279824 Unspecified -Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency skos:broadMatch ICD10:D80.8 Unspecified -Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation oboInOwl:hasDbXref ICD10:G11.0 Unspecified -Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation skos:broadMatch ICD10:G11.0 Unspecified -Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref ICD10:Q87.5 Unspecified -Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref MedDRA:10062600 Unspecified -Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref MESH:C537038 Unspecified -Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref UMLS:C0796021 Unspecified -Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref OMIM:226960 Unspecified -Orphanet:1824 Lowry-Wood syndrome skos:broadMatch ICD10:Q87.5 Unspecified -Orphanet:1824 Lowry-Wood syndrome skos:exactMatch UMLS:C0796021 Unspecified -Orphanet:1824 Lowry-Wood syndrome skos:exactMatch OMIM:226960 Unspecified -Orphanet:1824 Lowry-Wood syndrome skos:exactMatch MESH:C537038 Unspecified -Orphanet:1824 Lowry-Wood syndrome skos:exactMatch MedDRA:10062600 Unspecified -Orphanet:398147 Persistent idiopathic facial pain oboInOwl:hasDbXref ICD10:G50.1 Unspecified -Orphanet:398147 Persistent idiopathic facial pain skos:exactMatch ICD10:G50.1 Unspecified -Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref OMIM:617137 Unspecified -Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C0265293 Unspecified -Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.5 Unspecified -Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref MESH:C538064 Unspecified -Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref OMIM:305620 Unspecified -Orphanet:1826 Frontometaphyseal dysplasia skos:exactMatch MESH:C538064 Unspecified -Orphanet:1826 Frontometaphyseal dysplasia skos:narrowMatch OMIM:617137 Unspecified -Orphanet:1826 Frontometaphyseal dysplasia skos:narrowMatch OMIM:305620 Unspecified -Orphanet:1826 Frontometaphyseal dysplasia skos:exactMatch UMLS:C0265293 Unspecified -Orphanet:1826 Frontometaphyseal dysplasia skos:broadMatch ICD10:Q78.5 Unspecified -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C1860168 Unspecified -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref MESH:C536020 Unspecified -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C2931087 Unspecified -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D82.2 Unspecified -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref OMIM:200900 Unspecified -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch ICD10:D82.2 Unspecified -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch OMIM:200900 Unspecified -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch UMLS:C1860168 Unspecified -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch MESH:C536020 Unspecified -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch UMLS:C2931087 Unspecified -Orphanet:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.4 Unspecified -Orphanet:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C2931171 Unspecified -Orphanet:85410 Oligoarticular juvenile idiopathic arthritis skos:exactMatch UMLS:C2931171 Unspecified -Orphanet:85410 Oligoarticular juvenile idiopathic arthritis skos:exactMatch ICD10:M08.4 Unspecified -Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref OMIM:236795 Unspecified -Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref UMLS:C0342737 Unspecified -Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref MESH:C535312 Unspecified -Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:939 3-hydroxyisobutyric aciduria skos:exactMatch MESH:C535312 Unspecified -Orphanet:939 3-hydroxyisobutyric aciduria skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:939 3-hydroxyisobutyric aciduria skos:exactMatch OMIM:236795 Unspecified -Orphanet:939 3-hydroxyisobutyric aciduria skos:exactMatch UMLS:C0342737 Unspecified -Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref ICD10:G72.8 Unspecified -Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref UMLS:C1855577 Unspecified -Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref OMIM:245340 Unspecified -Orphanet:171690 Metabolic myopathy due to lactate transporter defect skos:exactMatch UMLS:C1855577 Unspecified -Orphanet:171690 Metabolic myopathy due to lactate transporter defect skos:exactMatch OMIM:245340 Unspecified -Orphanet:171690 Metabolic myopathy due to lactate transporter defect skos:broadMatch ICD10:G72.8 Unspecified -Orphanet:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref OMIM:615030 Unspecified -Orphanet:320411 Autosomal recessive spastic paraplegia type 56 skos:exactMatch OMIM:615030 Unspecified -Orphanet:320411 Autosomal recessive spastic paraplegia type 56 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref UMLS:C1970009 Unspecified -Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref OMIM:611252 Unspecified -Orphanet:171622 Autosomal recessive spastic paraplegia type 32 skos:exactMatch OMIM:611252 Unspecified -Orphanet:171622 Autosomal recessive spastic paraplegia type 32 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:171622 Autosomal recessive spastic paraplegia type 32 skos:exactMatch UMLS:C1970009 Unspecified -Orphanet:562538 Autosomal recessive extra-oral halitosis oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:562538 Autosomal recessive extra-oral halitosis oboInOwl:hasDbXref OMIM:618148 Unspecified -Orphanet:562538 Autosomal recessive extra-oral halitosis skos:exactMatch OMIM:618148 Unspecified -Orphanet:562538 Autosomal recessive extra-oral halitosis skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:528623 Hereditary angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:528623 Hereditary angioedema with C1Inh deficiency skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref OMIM:612319 Unspecified -Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:171629 Autosomal recessive spastic paraplegia type 35 skos:exactMatch OMIM:612319 Unspecified -Orphanet:171629 Autosomal recessive spastic paraplegia type 35 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref UMLS:C3696898 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:615005 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:600513 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:603204 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:605375 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:610353 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.0 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:603204 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:615005 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:600513 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy skos:broadMatch ICD10:G40.0 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:605375 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:610353 Unspecified -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy skos:exactMatch UMLS:C3696898 Unspecified -Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref UMLS:C0339515 Unspecified -Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref OMIM:264420 Unspecified -Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref OMIM:136900 Unspecified -Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy skos:exactMatch OMIM:136900 Unspecified -Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy skos:narrowMatch OMIM:264420 Unspecified -Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy skos:exactMatch UMLS:C0339515 Unspecified -Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia oboInOwl:hasDbXref ICD10:K20 Unspecified -Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia skos:broadMatch ICD10:K20 Unspecified -Orphanet:569164 Angiomatoid fibrous histiocytoma oboInOwl:hasDbXref ICD10:D21.9 Unspecified -Orphanet:569164 Angiomatoid fibrous histiocytoma skos:broadMatch ICD10:D21.9 Unspecified -Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref OMIM:604391 Unspecified -Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref ICD10:G11.3 Unspecified -Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref UMLS:C1859598 Unspecified -Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref UMLS:C1858391 Unspecified -Orphanet:251347 Ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 Unspecified -Orphanet:251347 Ataxia-telangiectasia-like disorder skos:exactMatch UMLS:C1858391 Unspecified -Orphanet:251347 Ataxia-telangiectasia-like disorder skos:exactMatch UMLS:C1859598 Unspecified -Orphanet:251347 Ataxia-telangiectasia-like disorder skos:broadMatch ICD10:G11.3 Unspecified -Orphanet:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 Unspecified -Orphanet:86797 Atypical lichen myxedematosus skos:broadMatch ICD10:L98.5 Unspecified -Orphanet:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:615980 Unspecified -Orphanet:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:435660 LIPE-related familial partial lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:435660 LIPE-related familial partial lipodystrophy skos:exactMatch OMIM:615980 Unspecified -Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref OMIM:602771 Unspecified -Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions skos:broadMatch OMIM:602771 Unspecified -Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref UMLS:C1280798 Unspecified -Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref OMIM:177820 Unspecified -Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref ICD10:D69.8 Unspecified -Orphanet:52530 Pseudo-von Willebrand disease skos:broadMatch ICD10:D69.8 Unspecified -Orphanet:52530 Pseudo-von Willebrand disease skos:exactMatch OMIM:177820 Unspecified -Orphanet:52530 Pseudo-von Willebrand disease skos:exactMatch UMLS:C1280798 Unspecified -Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:182190 Unspecified -Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref UMLS:C0037052 Unspecified -Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:608567 Unspecified -Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref MESH:D012804 Unspecified -Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref MedDRA:10040639 Unspecified -Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:163800 Unspecified -Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref ICD10:I49.5 Unspecified -Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:614090 Unspecified -Orphanet:166282 Familial sick sinus syndrome skos:narrowMatch OMIM:182190 Unspecified -Orphanet:166282 Familial sick sinus syndrome skos:exactMatch MedDRA:10040639 Unspecified -Orphanet:166282 Familial sick sinus syndrome skos:exactMatch MESH:D012804 Unspecified -Orphanet:166282 Familial sick sinus syndrome skos:exactMatch OMIM:608567 Unspecified -Orphanet:166282 Familial sick sinus syndrome skos:narrowMatch OMIM:614090 Unspecified -Orphanet:166282 Familial sick sinus syndrome skos:broadMatch ICD10:I49.5 Unspecified -Orphanet:166282 Familial sick sinus syndrome skos:exactMatch UMLS:C0037052 Unspecified -Orphanet:166282 Familial sick sinus syndrome skos:narrowMatch OMIM:163800 Unspecified -Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:601001 Unspecified -Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 Unspecified -Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex skos:exactMatch OMIM:601001 Unspecified -Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex skos:broadMatch ICD10:Q81.0 Unspecified -Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome oboInOwl:hasDbXref ICD10:R65.2 Unspecified -Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome skos:broadMatch ICD10:R65.2 Unspecified -Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.2 Unspecified -Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.4 Unspecified -Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref UMLS:C0030528 Unspecified -Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.1 Unspecified -Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.3 Unspecified -Orphanet:443227 Paratyphoid fever skos:narrowMatch ICD10:A01.2 Unspecified -Orphanet:443227 Paratyphoid fever skos:narrowMatch ICD10:A01.4 Unspecified -Orphanet:443227 Paratyphoid fever skos:exactMatch UMLS:C0030528 Unspecified -Orphanet:443227 Paratyphoid fever skos:narrowMatch ICD10:A01.3 Unspecified -Orphanet:443227 Paratyphoid fever skos:narrowMatch ICD10:A01.1 Unspecified -Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref OMIM:607346 Unspecified -Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref MESH:C537198 Unspecified -Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref UMLS:C1846367 Unspecified -Orphanet:98772 Spinocerebellar ataxia type 19/22 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:98772 Spinocerebellar ataxia type 19/22 skos:exactMatch UMLS:C1846367 Unspecified -Orphanet:98772 Spinocerebellar ataxia type 19/22 skos:exactMatch MESH:C537198 Unspecified -Orphanet:98772 Spinocerebellar ataxia type 19/22 skos:exactMatch OMIM:607346 Unspecified -Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref UMLS:C1843884 Unspecified -Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref OMIM:607458 Unspecified -Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref MESH:C537197 Unspecified -Orphanet:98771 Spinocerebellar ataxia type 18 skos:exactMatch MESH:C537197 Unspecified -Orphanet:98771 Spinocerebellar ataxia type 18 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:98771 Spinocerebellar ataxia type 18 skos:exactMatch UMLS:C1843884 Unspecified -Orphanet:98771 Spinocerebellar ataxia type 18 skos:exactMatch OMIM:607458 Unspecified -Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasDbXref UMLS:C0473579 Unspecified -Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasDbXref ICD10:Q82.5 Unspecified -Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus skos:broadMatch ICD10:Q82.5 Unspecified -Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus skos:exactMatch UMLS:C0473579 Unspecified -Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref OMIM:607454 Unspecified -Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref UMLS:C1843891 Unspecified -Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref MESH:C537200 Unspecified -Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:98773 Spinocerebellar ataxia type 21 skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:98773 Spinocerebellar ataxia type 21 skos:exactMatch MESH:C537200 Unspecified -Orphanet:98773 Spinocerebellar ataxia type 21 skos:exactMatch OMIM:607454 Unspecified -Orphanet:98773 Spinocerebellar ataxia type 21 skos:exactMatch UMLS:C1843891 Unspecified -Orphanet:84142 Isaac syndrome oboInOwl:hasDbXref UMLS:C0751919 Unspecified -Orphanet:84142 Isaac syndrome oboInOwl:hasDbXref UMLS:C0242287 Unspecified -Orphanet:84142 Isaac syndrome oboInOwl:hasDbXref ICD10:G71.1 Unspecified -Orphanet:84142 Isaac syndrome skos:broadMatch ICD10:G71.1 Unspecified -Orphanet:84142 Isaac syndrome skos:exactMatch UMLS:C0242287 Unspecified -Orphanet:84142 Isaac syndrome skos:exactMatch UMLS:C0751919 Unspecified -Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome oboInOwl:hasDbXref OMIM:614229 Unspecified -Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome skos:exactMatch OMIM:614229 Unspecified -Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref UMLS:C0268609 Unspecified -Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref ICD10:E70.8 Unspecified -Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref OMIM:229100 Unspecified -Orphanet:51208 Formiminoglutamic aciduria skos:exactMatch OMIM:229100 Unspecified -Orphanet:51208 Formiminoglutamic aciduria skos:exactMatch UMLS:C0268609 Unspecified -Orphanet:51208 Formiminoglutamic aciduria skos:broadMatch ICD10:E70.8 Unspecified -Orphanet:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:615238 Unspecified -Orphanet:435651 CIDEC-related familial partial lipodystrophy skos:exactMatch OMIM:615238 Unspecified -Orphanet:435651 CIDEC-related familial partial lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.1 Unspecified -Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.9 Unspecified -Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C23 Unspecified -Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.0 Unspecified -Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 Unspecified -Orphanet:85448 AGel amyloidosis oboInOwl:hasDbXref UMLS:C0936273 Unspecified -Orphanet:85448 AGel amyloidosis oboInOwl:hasDbXref ICD10:E85.1 Unspecified -Orphanet:85448 AGel amyloidosis oboInOwl:hasDbXref OMIM:105120 Unspecified -Orphanet:85448 AGel amyloidosis skos:broadMatch ICD10:E85.1 Unspecified -Orphanet:85448 AGel amyloidosis skos:exactMatch OMIM:105120 Unspecified -Orphanet:85448 AGel amyloidosis skos:exactMatch UMLS:C0936273 Unspecified -Orphanet:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref ICD10:E85.1+ Unspecified -Orphanet:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref OMIM:105210 Unspecified -Orphanet:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref UMLS:C0206245 Unspecified -Orphanet:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref ICD10:G63.3* Unspecified -Orphanet:85447 ATTRV30M amyloidosis skos:exactMatch ICD10:G63.3* Unspecified -Orphanet:85447 ATTRV30M amyloidosis skos:exactMatch OMIM:105210 Unspecified -Orphanet:85447 ATTRV30M amyloidosis skos:broadMatch ICD10:E85.1+ Unspecified -Orphanet:85447 ATTRV30M amyloidosis skos:exactMatch UMLS:C0206245 Unspecified -Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref OMIM:193220 Unspecified -Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref UMLS:C2674009 Unspecified -Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref OMIM:619082 Unspecified -Orphanet:263347 MRCS syndrome skos:narrowMatch OMIM:619082 Unspecified -Orphanet:263347 MRCS syndrome skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:263347 MRCS syndrome skos:broadMatch OMIM:193220 Unspecified -Orphanet:263347 MRCS syndrome skos:exactMatch UMLS:C2674009 Unspecified -Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref OMIM:608710 Unspecified -Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS:C0043092 Unspecified -Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS:C3495801 Unspecified -Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10:M31.3 Unspecified -Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:D014890 Unspecified -Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref MedDRA:10047888 Unspecified -Orphanet:900 Granulomatosis with polyangiitis skos:exactMatch MedDRA:10047888 Unspecified -Orphanet:900 Granulomatosis with polyangiitis skos:exactMatch MESH:D014890 Unspecified -Orphanet:900 Granulomatosis with polyangiitis skos:exactMatch ICD10:M31.3 Unspecified -Orphanet:900 Granulomatosis with polyangiitis skos:exactMatch UMLS:C3495801 Unspecified -Orphanet:900 Granulomatosis with polyangiitis skos:exactMatch OMIM:608710 Unspecified -Orphanet:900 Granulomatosis with polyangiitis skos:exactMatch UMLS:C0043092 Unspecified -Orphanet:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref ICD10:D57.2 Unspecified -Orphanet:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref UMLS:C0019034 Unspecified -Orphanet:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref MedDRA:10057072 Unspecified -Orphanet:251365 Sickle cell-hemoglobin C disease syndrome skos:exactMatch MedDRA:10057072 Unspecified -Orphanet:251365 Sickle cell-hemoglobin C disease syndrome skos:exactMatch UMLS:C0019034 Unspecified -Orphanet:251365 Sickle cell-hemoglobin C disease syndrome skos:broadMatch ICD10:D57.2 Unspecified -Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref UMLS:C0012602 Unspecified -Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref MESH:D004184 Unspecified -Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref ICD10:B74.8 Unspecified -Orphanet:166291 Dirofilariasis skos:exactMatch MESH:D004184 Unspecified -Orphanet:166291 Dirofilariasis skos:broadMatch ICD10:B74.8 Unspecified -Orphanet:166291 Dirofilariasis skos:exactMatch UMLS:C0012602 Unspecified -Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:528647 Hereditary angioedema with normal C1Inh skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref OMIM:600223 Unspecified -Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref UMLS:C0752122 Unspecified -Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:98765 Spinocerebellar ataxia type 4 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:98765 Spinocerebellar ataxia type 4 skos:exactMatch OMIM:600223 Unspecified -Orphanet:98765 Spinocerebellar ataxia type 4 skos:exactMatch UMLS:C0752122 Unspecified -Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref OMIM:604715 Unspecified -Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref ICD10:I95.1 Unspecified -Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency skos:broadMatch ICD10:I95.1 Unspecified -Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency skos:exactMatch OMIM:604715 Unspecified -Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref OMIM:609307 Unspecified -Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref MESH:C537204 Unspecified -Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref UMLS:C1836383 Unspecified -Orphanet:98764 Spinocerebellar ataxia type 27 skos:exactMatch UMLS:C1836383 Unspecified -Orphanet:98764 Spinocerebellar ataxia type 27 skos:exactMatch MESH:C537204 Unspecified -Orphanet:98764 Spinocerebellar ataxia type 27 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:98764 Spinocerebellar ataxia type 27 skos:exactMatch OMIM:609307 Unspecified -Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref ICD10:D35.0 Unspecified -Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref ICD10:C74.1 Unspecified -Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma skos:broadMatch ICD10:D35.0 Unspecified -Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma skos:broadMatch ICD10:C74.1 Unspecified -Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref OMIM:604432 Unspecified -Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref UMLS:C1858351 Unspecified -Orphanet:98767 Spinocerebellar ataxia type 11 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:98767 Spinocerebellar ataxia type 11 skos:exactMatch OMIM:604432 Unspecified -Orphanet:98767 Spinocerebellar ataxia type 11 skos:exactMatch UMLS:C1858351 Unspecified -Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref UMLS:C0752123 Unspecified -Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref OMIM:600224 Unspecified -Orphanet:98766 Spinocerebellar ataxia type 5 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:98766 Spinocerebellar ataxia type 5 skos:exactMatch UMLS:C0752123 Unspecified -Orphanet:98766 Spinocerebellar ataxia type 5 skos:exactMatch OMIM:600224 Unspecified -Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref OMIM:603516 Unspecified -Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref UMLS:C1963674 Unspecified -Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:98761 Spinocerebellar ataxia type 10 skos:exactMatch UMLS:C1963674 Unspecified -Orphanet:98761 Spinocerebellar ataxia type 10 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:98761 Spinocerebellar ataxia type 10 skos:exactMatch OMIM:603516 Unspecified -Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C23 Unspecified -Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.1 Unspecified -Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C28.9 Unspecified -Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.0 Unspecified -Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 Unspecified -Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref OMIM:608768 Unspecified -Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref MESH:C537307 Unspecified -Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref UMLS:C1837454 Unspecified -Orphanet:98760 Spinocerebellar ataxia type 8 skos:exactMatch UMLS:C1837454 Unspecified -Orphanet:98760 Spinocerebellar ataxia type 8 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:98760 Spinocerebellar ataxia type 8 skos:exactMatch OMIM:608768 Unspecified -Orphanet:98760 Spinocerebellar ataxia type 8 skos:exactMatch MESH:C537307 Unspecified -Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref UMLS:C1854369 Unspecified -Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref OMIM:605361 Unspecified -Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref MESH:C537196 Unspecified -Orphanet:98763 Spinocerebellar ataxia type 14 skos:exactMatch OMIM:605361 Unspecified -Orphanet:98763 Spinocerebellar ataxia type 14 skos:exactMatch MESH:C537196 Unspecified -Orphanet:98763 Spinocerebellar ataxia type 14 skos:exactMatch UMLS:C1854369 Unspecified -Orphanet:98763 Spinocerebellar ataxia type 14 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref UMLS:C1858501 Unspecified -Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref OMIM:604326 Unspecified -Orphanet:98762 Spinocerebellar ataxia type 12 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:98762 Spinocerebellar ataxia type 12 skos:exactMatch OMIM:604326 Unspecified -Orphanet:98762 Spinocerebellar ataxia type 12 skos:exactMatch UMLS:C1858501 Unspecified -Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures oboInOwl:hasDbXref ICD10:G40.2 Unspecified -Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures skos:broadMatch ICD10:G40.2 Unspecified -Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref MESH:D019294 Unspecified -Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref UMLS:C0238052 Unspecified -Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref ICD10:E75.5 Unspecified -Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref OMIM:213700 Unspecified -Orphanet:909 Cerebrotendinous xanthomatosis skos:exactMatch OMIM:213700 Unspecified -Orphanet:909 Cerebrotendinous xanthomatosis skos:broadMatch ICD10:E75.5 Unspecified -Orphanet:909 Cerebrotendinous xanthomatosis skos:exactMatch MESH:D019294 Unspecified -Orphanet:909 Cerebrotendinous xanthomatosis skos:exactMatch UMLS:C0238052 Unspecified -Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref OMIM:606658 Unspecified -Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:98769 Spinocerebellar ataxia type 15/16 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:98769 Spinocerebellar ataxia type 15/16 skos:exactMatch OMIM:606658 Unspecified -Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref UMLS:C1854488 Unspecified -Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref MESH:C537195 Unspecified -Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref OMIM:605259 Unspecified -Orphanet:98768 Spinocerebellar ataxia type 13 skos:exactMatch OMIM:605259 Unspecified -Orphanet:98768 Spinocerebellar ataxia type 13 skos:exactMatch MESH:C537195 Unspecified -Orphanet:98768 Spinocerebellar ataxia type 13 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:98768 Spinocerebellar ataxia type 13 skos:exactMatch UMLS:C1854488 Unspecified -Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:300770 Unspecified -Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:614370 Unspecified -Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS:C2931035 Unspecified -Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 Unspecified -Orphanet:264675 Hereditary pulmonary alveolar proteinosis skos:exactMatch UMLS:C2931035 Unspecified -Orphanet:264675 Hereditary pulmonary alveolar proteinosis skos:broadMatch ICD10:J84.0 Unspecified -Orphanet:264675 Hereditary pulmonary alveolar proteinosis skos:narrowMatch OMIM:614370 Unspecified -Orphanet:264675 Hereditary pulmonary alveolar proteinosis skos:narrowMatch OMIM:300770 Unspecified -Orphanet:64545 Benign idiopathic neonatal seizures oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:64545 Benign idiopathic neonatal seizures skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:902 Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 Unspecified -Orphanet:902 Werner syndrome oboInOwl:hasDbXref OMIM:277700 Unspecified -Orphanet:902 Werner syndrome oboInOwl:hasDbXref MESH:D014898 Unspecified -Orphanet:902 Werner syndrome oboInOwl:hasDbXref MedDRA:10049429 Unspecified -Orphanet:902 Werner syndrome oboInOwl:hasDbXref UMLS:C0043119 Unspecified -Orphanet:902 Werner syndrome skos:exactMatch UMLS:C0043119 Unspecified -Orphanet:902 Werner syndrome skos:broadMatch ICD10:E34.8 Unspecified -Orphanet:902 Werner syndrome skos:exactMatch MedDRA:10049429 Unspecified -Orphanet:902 Werner syndrome skos:exactMatch MESH:D014898 Unspecified -Orphanet:902 Werner syndrome skos:exactMatch OMIM:277700 Unspecified -Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref MedDRA:10036673 Unspecified -Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref UMLS:C0268381 Unspecified -Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref ICD10:E85.9 Unspecified -Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref MESH:C531616 Unspecified -Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref OMIM:254500 Unspecified -Orphanet:85443 AL amyloidosis skos:broadMatch ICD10:E85.9 Unspecified -Orphanet:85443 AL amyloidosis skos:broadMatch OMIM:254500 Unspecified -Orphanet:85443 AL amyloidosis skos:exactMatch MedDRA:10036673 Unspecified -Orphanet:85443 AL amyloidosis skos:exactMatch MESH:C531616 Unspecified -Orphanet:85443 AL amyloidosis skos:exactMatch UMLS:C0268381 Unspecified -Orphanet:901 Wells syndrome oboInOwl:hasDbXref MESH:C536693 Unspecified -Orphanet:901 Wells syndrome oboInOwl:hasDbXref UMLS:C0343101 Unspecified -Orphanet:901 Wells syndrome oboInOwl:hasDbXref ICD10:L98.3 Unspecified -Orphanet:901 Wells syndrome skos:exactMatch ICD10:L98.3 Unspecified -Orphanet:901 Wells syndrome skos:exactMatch UMLS:C0343101 Unspecified -Orphanet:901 Wells syndrome skos:exactMatch MESH:C536693 Unspecified -Orphanet:85446 Wild type ABeta2M amyloidosis oboInOwl:hasDbXref ICD10:E85.3 Unspecified -Orphanet:85446 Wild type ABeta2M amyloidosis skos:broadMatch ICD10:E85.3 Unspecified -Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref MedDRA:10039811 Unspecified -Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref ICD10:E85.3 Unspecified -Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref UMLS:C0221014 Unspecified -Orphanet:85445 AA amyloidosis skos:exactMatch UMLS:C0221014 Unspecified -Orphanet:85445 AA amyloidosis skos:exactMatch ICD10:E85.3 Unspecified -Orphanet:85445 AA amyloidosis skos:exactMatch MedDRA:10039811 Unspecified -Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:193400 Unspecified -Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:314560 Unspecified -Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref ICD10:D68.0 Unspecified -Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref MESH:D014842 Unspecified -Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:613554 Unspecified -Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:277480 Unspecified -Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref UMLS:C0042974 Unspecified -Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref MedDRA:10047715 Unspecified -Orphanet:903 Von Willebrand disease skos:exactMatch UMLS:C0042974 Unspecified -Orphanet:903 Von Willebrand disease skos:exactMatch MedDRA:10047715 Unspecified -Orphanet:903 Von Willebrand disease skos:exactMatch MESH:D014842 Unspecified -Orphanet:903 Von Willebrand disease skos:narrowMatch OMIM:613554 Unspecified -Orphanet:903 Von Willebrand disease skos:narrowMatch OMIM:277480 Unspecified -Orphanet:903 Von Willebrand disease skos:narrowMatch OMIM:314560 Unspecified -Orphanet:903 Von Willebrand disease skos:exactMatch ICD10:D68.0 Unspecified -Orphanet:903 Von Willebrand disease skos:narrowMatch OMIM:193400 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MESH:D014923 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:301000 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:600903 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD10:D82.0 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref UMLS:C0043194 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:614493 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MedDRA:10047992 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome skos:narrowMatch OMIM:614493 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome skos:exactMatch OMIM:301000 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome skos:exactMatch MESH:D014923 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome skos:narrowMatch OMIM:600903 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome skos:exactMatch UMLS:C0043194 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome skos:exactMatch ICD10:D82.0 Unspecified -Orphanet:906 Wiskott-Aldrich syndrome skos:exactMatch MedDRA:10047992 Unspecified -Orphanet:905 Wilson disease oboInOwl:hasDbXref UMLS:C0019202 Unspecified -Orphanet:905 Wilson disease oboInOwl:hasDbXref MedDRA:10019819 Unspecified -Orphanet:905 Wilson disease oboInOwl:hasDbXref OMIM:277900 Unspecified -Orphanet:905 Wilson disease oboInOwl:hasDbXref ICD10:E83.0 Unspecified -Orphanet:905 Wilson disease oboInOwl:hasDbXref MESH:D006527 Unspecified -Orphanet:905 Wilson disease skos:exactMatch OMIM:277900 Unspecified -Orphanet:905 Wilson disease skos:exactMatch MESH:D006527 Unspecified -Orphanet:905 Wilson disease skos:broadMatch ICD10:E83.0 Unspecified -Orphanet:905 Wilson disease skos:exactMatch UMLS:C0019202 Unspecified -Orphanet:905 Wilson disease skos:exactMatch MedDRA:10019819 Unspecified -Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome oboInOwl:hasDbXref OMIM:262700 Unspecified -Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome oboInOwl:hasDbXref ICD10:E23.0 Unspecified -Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:broadMatch ICD10:E23.0 Unspecified -Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch OMIM:262700 Unspecified -Orphanet:363558 New-onset refractory status epilepticus oboInOwl:hasDbXref ICD10:G41.8 Unspecified -Orphanet:363558 New-onset refractory status epilepticus skos:broadMatch ICD10:G41.8 Unspecified -Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref UMLS:C1275126 Unspecified -Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref ICD10:E85.0 Unspecified -Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref OMIM:142680 Unspecified -Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome skos:exactMatch OMIM:142680 Unspecified -Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome skos:broadMatch ICD10:E85.0 Unspecified -Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome skos:exactMatch UMLS:C1275126 Unspecified -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:I68.0* Unspecified -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref UMLS:C1510489 Unspecified -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref OMIM:105150 Unspecified -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ Unspecified -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref OMIM:605714 Unspecified -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis skos:broadMatch ICD10:I68.0* Unspecified -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis skos:narrowMatch OMIM:105150 Unspecified -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis skos:broadMatch ICD10:E85.4+ Unspecified -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis skos:narrowMatch OMIM:605714 Unspecified -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis skos:exactMatch UMLS:C1510489 Unspecified -Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref OMIM:615651 Unspecified -Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:exactMatch OMIM:615651 Unspecified -Orphanet:228116 Hughes-Stovin syndrome oboInOwl:hasDbXref ICD10:I28.8 Unspecified -Orphanet:228116 Hughes-Stovin syndrome skos:broadMatch ICD10:I28.8 Unspecified -Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref OMIM:183090 Unspecified -Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref UMLS:C0752121 Unspecified -Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:98756 Spinocerebellar ataxia type 2 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:98756 Spinocerebellar ataxia type 2 skos:exactMatch UMLS:C0752121 Unspecified -Orphanet:98756 Spinocerebellar ataxia type 2 skos:exactMatch OMIM:183090 Unspecified -Orphanet:228119 Fusariosis oboInOwl:hasDbXref MedDRA:10051919 Unspecified -Orphanet:228119 Fusariosis oboInOwl:hasDbXref UMLS:C0276758 Unspecified -Orphanet:228119 Fusariosis oboInOwl:hasDbXref ICD10:B48.7 Unspecified -Orphanet:228119 Fusariosis skos:broadMatch ICD10:B48.7 Unspecified -Orphanet:228119 Fusariosis skos:exactMatch UMLS:C0276758 Unspecified -Orphanet:228119 Fusariosis skos:exactMatch MedDRA:10051919 Unspecified -Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref OMIM:164400 Unspecified -Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref UMLS:C0752120 Unspecified -Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:98755 Spinocerebellar ataxia type 1 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:98755 Spinocerebellar ataxia type 1 skos:exactMatch OMIM:164400 Unspecified -Orphanet:98755 Spinocerebellar ataxia type 1 skos:exactMatch UMLS:C0752120 Unspecified -Orphanet:424982 Biliary cystadenocarcinoma oboInOwl:hasDbXref ICD10:C22.1 Unspecified -Orphanet:424982 Biliary cystadenocarcinoma skos:broadMatch ICD10:C22.1 Unspecified -Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref OMIM:300695 Unspecified -Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:431272 X-linked scapuloperoneal muscular dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:431272 X-linked scapuloperoneal muscular dystrophy skos:exactMatch OMIM:300695 Unspecified -Orphanet:572798 WARS2-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:572798 WARS2-related combined oxidative phosphorylation defect oboInOwl:hasDbXref OMIM:617710 Unspecified -Orphanet:572798 WARS2-related combined oxidative phosphorylation defect skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:572798 WARS2-related combined oxidative phosphorylation defect skos:exactMatch OMIM:617710 Unspecified -Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref OMIM:183086 Unspecified -Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref UMLS:C0752124 Unspecified -Orphanet:98758 Spinocerebellar ataxia type 6 skos:exactMatch UMLS:C0752124 Unspecified -Orphanet:98758 Spinocerebellar ataxia type 6 skos:exactMatch OMIM:183086 Unspecified -Orphanet:98758 Spinocerebellar ataxia type 6 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref OMIM:109150 Unspecified -Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref UMLS:C0024408 Unspecified -Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:98757 Spinocerebellar ataxia type 3 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:98757 Spinocerebellar ataxia type 3 skos:exactMatch OMIM:109150 Unspecified -Orphanet:98757 Spinocerebellar ataxia type 3 skos:exactMatch UMLS:C0024408 Unspecified -Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref OMIM:607136 Unspecified -Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref UMLS:C1846707 Unspecified -Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:98759 Spinocerebellar ataxia type 17 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:98759 Spinocerebellar ataxia type 17 skos:exactMatch UMLS:C1846707 Unspecified -Orphanet:98759 Spinocerebellar ataxia type 17 skos:exactMatch OMIM:607136 Unspecified -Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref OMIM:300299 Unspecified -Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref UMLS:C1845987 Unspecified -Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref ICD10:D70 Unspecified -Orphanet:86788 X-linked severe congenital neutropenia skos:exactMatch UMLS:C1845987 Unspecified -Orphanet:86788 X-linked severe congenital neutropenia skos:broadMatch ICD10:D70 Unspecified -Orphanet:86788 X-linked severe congenital neutropenia skos:exactMatch OMIM:300299 Unspecified -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref MedDRA:10055579 Unspecified -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref UMLS:C0857812 Unspecified -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref ICD10:D57.2 Unspecified -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref UMLS:C0221019 Unspecified -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref MedDRA:10040655 Unspecified -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome skos:exactMatch MedDRA:10040655 Unspecified -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome skos:broadMatch ICD10:D57.2 Unspecified -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome skos:exactMatch UMLS:C0221019 Unspecified -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome skos:exactMatch MedDRA:10055579 Unspecified -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome skos:exactMatch UMLS:C0857812 Unspecified -Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref OMIM:105210 Unspecified -Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ Unspecified -Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref ICD10:I43.1* Unspecified -Orphanet:85451 ATTRV122I amyloidosis skos:broadMatch OMIM:105210 Unspecified -Orphanet:85451 ATTRV122I amyloidosis skos:broadMatch ICD10:I43.1* Unspecified -Orphanet:85451 ATTRV122I amyloidosis skos:broadMatch ICD10:E85.4+ Unspecified -Orphanet:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref OMIM:105200 Unspecified -Orphanet:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref ICD10:E85.0 Unspecified -Orphanet:85450 Hereditary amyloidosis with primary renal involvement skos:broadMatch ICD10:E85.0 Unspecified -Orphanet:85450 Hereditary amyloidosis with primary renal involvement skos:exactMatch OMIM:105200 Unspecified -Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ICD10:E85.0+ Unspecified -Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref OMIM:301220 Unspecified -Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref UMLS:C1845050 Unspecified -Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ICD10:L99.0* Unspecified -Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref UMLS:C0796250 Unspecified -Orphanet:85453 X-linked reticulate pigmentary disorder skos:exactMatch UMLS:C1845050 Unspecified -Orphanet:85453 X-linked reticulate pigmentary disorder skos:exactMatch UMLS:C0796250 Unspecified -Orphanet:85453 X-linked reticulate pigmentary disorder skos:broadMatch ICD10:E85.0+ Unspecified -Orphanet:85453 X-linked reticulate pigmentary disorder skos:exactMatch OMIM:301220 Unspecified -Orphanet:85453 X-linked reticulate pigmentary disorder skos:broadMatch ICD10:L99.0* Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.4 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.8 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.0 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.2 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref MedDRA:10009825 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref UMLS:C0851907 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref UMLS:C0009186 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.9 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.7 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.1 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.3 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref UMLS:C0153257 Unspecified -Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref MESH:D003047 Unspecified -Orphanet:228123 Coccidioidomycosis skos:narrowMatch ICD10:B38.9 Unspecified -Orphanet:228123 Coccidioidomycosis skos:narrowMatch ICD10:B38.7 Unspecified -Orphanet:228123 Coccidioidomycosis skos:narrowMatch ICD10:B38.3 Unspecified -Orphanet:228123 Coccidioidomycosis skos:narrowMatch ICD10:B38.1 Unspecified -Orphanet:228123 Coccidioidomycosis skos:exactMatch MESH:D003047 Unspecified -Orphanet:228123 Coccidioidomycosis skos:exactMatch UMLS:C0153257 Unspecified -Orphanet:228123 Coccidioidomycosis skos:exactMatch UMLS:C0851907 Unspecified -Orphanet:228123 Coccidioidomycosis skos:exactMatch MedDRA:10009825 Unspecified -Orphanet:228123 Coccidioidomycosis skos:exactMatch UMLS:C0009186 Unspecified -Orphanet:228123 Coccidioidomycosis skos:narrowMatch ICD10:B38.8 Unspecified -Orphanet:228123 Coccidioidomycosis skos:narrowMatch ICD10:B38.4 Unspecified -Orphanet:228123 Coccidioidomycosis skos:narrowMatch ICD10:B38.2 Unspecified -Orphanet:228123 Coccidioidomycosis skos:narrowMatch ICD10:B38.0 Unspecified -Orphanet:254411 Annular atrophic lichen planus oboInOwl:hasDbXref ICD10:L43.8 Unspecified -Orphanet:254411 Annular atrophic lichen planus skos:broadMatch ICD10:L43.8 Unspecified -Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:180020 Unspecified -Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref UMLS:C0271092 Unspecified -Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:304030 Unspecified -Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:300085 Unspecified -Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:602093 Unspecified -Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:613093 Unspecified -Orphanet:1871 Progressive cone dystrophy skos:narrowMatch OMIM:180020 Unspecified -Orphanet:1871 Progressive cone dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:1871 Progressive cone dystrophy skos:narrowMatch OMIM:304030 Unspecified -Orphanet:1871 Progressive cone dystrophy skos:exactMatch UMLS:C0271092 Unspecified -Orphanet:1871 Progressive cone dystrophy skos:narrowMatch OMIM:602093 Unspecified -Orphanet:1871 Progressive cone dystrophy skos:narrowMatch OMIM:613093 Unspecified -Orphanet:1871 Progressive cone dystrophy skos:narrowMatch OMIM:300085 Unspecified -Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X oboInOwl:hasDbXref OMIM:616668 Unspecified -Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X skos:exactMatch OMIM:616668 Unspecified -Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref OMIM:254000 Unspecified -Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C2931578 Unspecified -Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C1850864 Unspecified -Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch UMLS:C1850864 Unspecified -Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch UMLS:C2931578 Unspecified -Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch OMIM:254000 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615973 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:610381 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:600977 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:612657 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:605549 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:604393 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:304020 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:303700 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:120970 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:614500 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:602093 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:612775 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:608194 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:601777 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:300476 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:603649 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:618555 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:613660 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615860 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:300834 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:604116 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:610283 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615163 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:616502 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:610478 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615374 Unspecified -Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:600624 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:603649 Unspecified -Orphanet:1872 Cone rod dystrophy skos:broadMatch OMIM:602093 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:300834 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:615860 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:300476 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:604116 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:615163 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:600624 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:610478 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:615374 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:613660 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:618555 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:610283 Unspecified -Orphanet:1872 Cone rod dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:1872 Cone rod dystrophy skos:exactMatch OMIM:120970 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:616502 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:612775 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:608194 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:614500 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:601777 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:600977 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:612657 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:605549 Unspecified -Orphanet:1872 Cone rod dystrophy skos:broadMatch OMIM:604393 Unspecified -Orphanet:1872 Cone rod dystrophy skos:broadMatch OMIM:303700 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:615973 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:304020 Unspecified -Orphanet:1872 Cone rod dystrophy skos:narrowMatch OMIM:610381 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:613566 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref ICD10:D57.2 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:142335 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:305435 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:141749 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:142470 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:613566 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:broadMatch ICD10:D57.2 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:305435 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:141749 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:142470 Unspecified -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:142335 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref UMLS:C1854023 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:615575 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref UMLS:C3711384 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:608634 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:158590 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:613376 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 skos:exactMatch UMLS:C1854023 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:613376 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:158590 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 skos:exactMatch UMLS:C3711384 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:615575 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:608634 Unspecified -Orphanet:139525 Distal hereditary motor neuropathy type 2 skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:264691 Isolated pulmonary capillaritis oboInOwl:hasDbXref UMLS:C3854530 Unspecified -Orphanet:264691 Isolated pulmonary capillaritis skos:exactMatch UMLS:C3854530 Unspecified -Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref UMLS:C0270968 Unspecified -Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref OMIM:254110 Unspecified -Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 skos:exactMatch OMIM:254110 Unspecified -Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 skos:exactMatch UMLS:C0270968 Unspecified -Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref OMIM:277320 Unspecified -Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref UMLS:C1848586 Unspecified -Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref MESH:C536350 Unspecified -Orphanet:1876 Oculogastrointestinal muscular dystrophy skos:exactMatch MESH:C536350 Unspecified -Orphanet:1876 Oculogastrointestinal muscular dystrophy skos:exactMatch UMLS:C1848586 Unspecified -Orphanet:1876 Oculogastrointestinal muscular dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:1876 Oculogastrointestinal muscular dystrophy skos:exactMatch OMIM:277320 Unspecified -Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form oboInOwl:hasDbXref OMIM:271245 Unspecified -Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:exactMatch OMIM:271245 Unspecified -Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:251370 Sickle cell-hemoglobin D disease syndrome oboInOwl:hasDbXref UMLS:C0272084 Unspecified -Orphanet:251370 Sickle cell-hemoglobin D disease syndrome oboInOwl:hasDbXref ICD10:D57.2 Unspecified -Orphanet:251370 Sickle cell-hemoglobin D disease syndrome oboInOwl:hasDbXref MedDRA:10056724 Unspecified -Orphanet:251370 Sickle cell-hemoglobin D disease syndrome skos:broadMatch ICD10:D57.2 Unspecified -Orphanet:251370 Sickle cell-hemoglobin D disease syndrome skos:exactMatch MedDRA:10056724 Unspecified -Orphanet:251370 Sickle cell-hemoglobin D disease syndrome skos:exactMatch UMLS:C0272084 Unspecified -Orphanet:251375 Sickle cell-hemoglobin E disease syndrome oboInOwl:hasDbXref ICD10:D57.2 Unspecified -Orphanet:251375 Sickle cell-hemoglobin E disease syndrome oboInOwl:hasDbXref UMLS:C0272085 Unspecified -Orphanet:251375 Sickle cell-hemoglobin E disease syndrome skos:exactMatch UMLS:C0272085 Unspecified -Orphanet:251375 Sickle cell-hemoglobin E disease syndrome skos:broadMatch ICD10:D57.2 Unspecified -Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref ICD10:I89.8 Unspecified -Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref OMIM:603523 Unspecified -Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref UMLS:C0340014 Unspecified -Orphanet:264688 Congenital chylothorax skos:exactMatch UMLS:C0340014 Unspecified -Orphanet:264688 Congenital chylothorax skos:exactMatch OMIM:603523 Unspecified -Orphanet:264688 Congenital chylothorax skos:broadMatch ICD10:I89.8 Unspecified -Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z oboInOwl:hasDbXref OMIM:616688 Unspecified -Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z skos:exactMatch OMIM:616688 Unspecified -Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:hasDbXref UMLS:C2931115 Unspecified -Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:hasDbXref ICD10:Q15.8 Unspecified -Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:exactMatch UMLS:C2931115 Unspecified -Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:broadMatch ICD10:Q15.8 Unspecified -Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref OMIM:614751 Unspecified -Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref OMIM:600794 Unspecified -Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref UMLS:C1833308 Unspecified -Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref OMIM:619112 Unspecified -Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:139536 Distal hereditary motor neuropathy type 5 skos:narrowMatch OMIM:600794 Unspecified -Orphanet:139536 Distal hereditary motor neuropathy type 5 skos:narrowMatch OMIM:619112 Unspecified -Orphanet:139536 Distal hereditary motor neuropathy type 5 skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:139536 Distal hereditary motor neuropathy type 5 skos:narrowMatch OMIM:614751 Unspecified -Orphanet:139536 Distal hereditary motor neuropathy type 5 skos:exactMatch UMLS:C1833308 Unspecified -Orphanet:160148 Cap polyposis oboInOwl:hasDbXref ICD10:D12.6 Unspecified -Orphanet:160148 Cap polyposis skos:broadMatch ICD10:D12.6 Unspecified -Orphanet:363528 Intellectual disability-strabismus syndrome oboInOwl:hasDbXref OMIM:615286 Unspecified -Orphanet:363528 Intellectual disability-strabismus syndrome oboInOwl:hasDbXref ICD10:H50.8 Unspecified -Orphanet:363528 Intellectual disability-strabismus syndrome skos:broadMatch ICD10:H50.8 Unspecified -Orphanet:363528 Intellectual disability-strabismus syndrome skos:exactMatch OMIM:615286 Unspecified -Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615328 Unspecified -Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:exactMatch OMIM:615328 Unspecified -Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref ICD10:I49.0 Unspecified -Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref OMIM:612956 Unspecified -Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref OMIM:603829 Unspecified -Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type skos:narrowMatch OMIM:612956 Unspecified -Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type skos:exactMatch OMIM:603829 Unspecified -Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type skos:broadMatch ICD10:I49.0 Unspecified -Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.0 Unspecified -Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome oboInOwl:hasDbXref OMIM:616719 Unspecified -Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:broadMatch ICD10:G11.0 Unspecified -Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:exactMatch OMIM:616719 Unspecified -Orphanet:521127 Osteoradionecrosis of the mandible oboInOwl:hasDbXref ICD10:K10.2 Unspecified -Orphanet:521127 Osteoradionecrosis of the mandible skos:broadMatch ICD10:K10.2 Unspecified -Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:617821 Unspecified -Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268345 Unspecified -Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130060 Unspecified -Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome skos:exactMatch OMIM:130060 Unspecified -Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome skos:exactMatch UMLS:C0268345 Unspecified -Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome skos:narrowMatch OMIM:617821 Unspecified -Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:139507 African iron overload oboInOwl:hasDbXref ICD10:E83.1 Unspecified -Orphanet:139507 African iron overload oboInOwl:hasDbXref OMIM:601195 Unspecified -Orphanet:139507 African iron overload oboInOwl:hasDbXref UMLS:C0268063 Unspecified -Orphanet:139507 African iron overload skos:exactMatch UMLS:C0268063 Unspecified -Orphanet:139507 African iron overload skos:broadMatch ICD10:E83.1 Unspecified -Orphanet:139507 African iron overload skos:exactMatch OMIM:601195 Unspecified -Orphanet:521123 Radiation-induced plexopathy oboInOwl:hasDbXref ICD10:G54.0 Unspecified -Orphanet:521123 Radiation-induced plexopathy skos:broadMatch ICD10:G54.0 Unspecified -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:610651 Unspecified -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref ICD10:Q82.1 Unspecified -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278730 Unspecified -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278780 Unspecified -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278760 Unspecified -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:610651 Unspecified -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:278730 Unspecified -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:278780 Unspecified -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:278760 Unspecified -Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia oboInOwl:hasDbXref OMIM:613728 Unspecified -Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia skos:exactMatch OMIM:613728 Unspecified -Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref OMIM:604129 Unspecified -Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref UMLS:C1275114 Unspecified -Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref ICD10:Q81.2 Unspecified -Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa skos:exactMatch UMLS:C1275114 Unspecified -Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa skos:exactMatch OMIM:604129 Unspecified -Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa skos:broadMatch ICD10:Q81.2 Unspecified -Orphanet:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref OMIM:616740 Unspecified -Orphanet:476113 Combined immunodeficiency due to TFRC deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:476113 Combined immunodeficiency due to TFRC deficiency skos:exactMatch OMIM:616740 Unspecified -Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form oboInOwl:hasDbXref ICD10:Q81.2 Unspecified -Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form skos:broadMatch ICD10:Q81.2 Unspecified -Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency oboInOwl:hasDbXref OMIM:614322 Unspecified -Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency skos:exactMatch OMIM:614322 Unspecified -Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226650 Unspecified -Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 Unspecified -Orphanet:251393 Localized junctional epidermolysis bullosa skos:broadMatch ICD10:Q81.8 Unspecified -Orphanet:251393 Localized junctional epidermolysis bullosa skos:broadMatch OMIM:226650 Unspecified -Orphanet:228157 Marburg acute multiple sclerosis oboInOwl:hasDbXref ICD10:G35 Unspecified -Orphanet:228157 Marburg acute multiple sclerosis skos:broadMatch ICD10:G35 Unspecified -Orphanet:254424 Annular lichen planus oboInOwl:hasDbXref ICD10:L43.8 Unspecified -Orphanet:254424 Annular lichen planus oboInOwl:hasDbXref UMLS:C0406363 Unspecified -Orphanet:254424 Annular lichen planus skos:broadMatch ICD10:L43.8 Unspecified -Orphanet:254424 Annular lichen planus skos:exactMatch UMLS:C0406363 Unspecified -Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect oboInOwl:hasDbXref OMIM:616794 Unspecified -Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect skos:exactMatch OMIM:616794 Unspecified -Orphanet:139512 Neuropathy with hearing impairment oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:139512 Neuropathy with hearing impairment skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref UMLS:C1866784 Unspecified -Orphanet:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref OMIM:182960 Unspecified -Orphanet:139518 Distal hereditary motor neuropathy type 1 skos:exactMatch OMIM:182960 Unspecified -Orphanet:139518 Distal hereditary motor neuropathy type 1 skos:exactMatch UMLS:C1866784 Unspecified -Orphanet:139518 Distal hereditary motor neuropathy type 1 skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref UMLS:C1970011 Unspecified -Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref OMIM:611228 Unspecified -Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:139515 Charcot-Marie-Tooth disease type 4J skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:139515 Charcot-Marie-Tooth disease type 4J skos:exactMatch OMIM:611228 Unspecified -Orphanet:139515 Charcot-Marie-Tooth disease type 4J skos:exactMatch UMLS:C1970011 Unspecified -Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref OMIM:616744 Unspecified -Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:476102 Hereditary pediatric Behçet-like disease skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:476102 Hereditary pediatric Behçet-like disease skos:exactMatch OMIM:616744 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref MESH:C537160 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref UMLS:C1854310 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:614238 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref ICD10:L65.8 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:615059 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:604379 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:607903 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:615885 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:605389 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:278150 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:614237 Unspecified -Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:618275 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:narrowMatch OMIM:278150 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:narrowMatch OMIM:618275 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:narrowMatch OMIM:607903 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:exactMatch OMIM:605389 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:narrowMatch OMIM:604379 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:narrowMatch OMIM:615885 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:narrowMatch OMIM:614237 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:broadMatch ICD10:L65.8 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:narrowMatch OMIM:615059 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:exactMatch UMLS:C1854310 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:exactMatch MESH:C537160 Unspecified -Orphanet:55654 Hypotrichosis simplex skos:narrowMatch OMIM:614238 Unspecified -Orphanet:228165 Baló concentric sclerosis oboInOwl:hasDbXref ICD10:G37.5 Unspecified -Orphanet:228165 Baló concentric sclerosis oboInOwl:hasDbXref UMLS:C0004712 Unspecified -Orphanet:228165 Baló concentric sclerosis oboInOwl:hasDbXref MedDRA:10010252 Unspecified -Orphanet:228165 Baló concentric sclerosis skos:exactMatch ICD10:G37.5 Unspecified -Orphanet:228165 Baló concentric sclerosis skos:exactMatch MedDRA:10010252 Unspecified -Orphanet:228165 Baló concentric sclerosis skos:exactMatch UMLS:C0004712 Unspecified -Orphanet:963 Acromegaly oboInOwl:hasDbXref ICD10:E22.0 Unspecified -Orphanet:963 Acromegaly oboInOwl:hasDbXref MESH:D000172 Unspecified -Orphanet:963 Acromegaly oboInOwl:hasDbXref OMIM:102200 Unspecified -Orphanet:963 Acromegaly oboInOwl:hasDbXref MedDRA:10000599 Unspecified -Orphanet:963 Acromegaly oboInOwl:hasDbXref UMLS:C0001206 Unspecified -Orphanet:963 Acromegaly oboInOwl:hasDbXref OMIM:300943 Unspecified -Orphanet:963 Acromegaly skos:exactMatch MedDRA:10000599 Unspecified -Orphanet:963 Acromegaly skos:exactMatch MESH:D000172 Unspecified -Orphanet:963 Acromegaly skos:exactMatch UMLS:C0001206 Unspecified -Orphanet:963 Acromegaly skos:narrowMatch OMIM:300943 Unspecified -Orphanet:963 Acromegaly skos:broadMatch OMIM:102200 Unspecified -Orphanet:963 Acromegaly skos:exactMatch ICD10:E22.0 Unspecified -Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy oboInOwl:hasDbXref ICD10:G61.8 Unspecified -Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:broadMatch ICD10:G61.8 Unspecified -Orphanet:55655 Pneumococcal meningitis oboInOwl:hasDbXref UMLS:C0025295 Unspecified -Orphanet:55655 Pneumococcal meningitis oboInOwl:hasDbXref ICD10:G00.1 Unspecified -Orphanet:55655 Pneumococcal meningitis oboInOwl:hasDbXref MedDRA:10027253 Unspecified -Orphanet:55655 Pneumococcal meningitis oboInOwl:hasDbXref MESH:D008586 Unspecified -Orphanet:55655 Pneumococcal meningitis skos:exactMatch MESH:D008586 Unspecified -Orphanet:55655 Pneumococcal meningitis skos:exactMatch UMLS:C0025295 Unspecified -Orphanet:55655 Pneumococcal meningitis skos:exactMatch ICD10:G00.1 Unspecified -Orphanet:55655 Pneumococcal meningitis skos:exactMatch MedDRA:10027253 Unspecified -Orphanet:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref UMLS:C1836694 Unspecified -Orphanet:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref OMIM:609161 Unspecified -Orphanet:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:228169 Autosomal dominant striatal neurodegeneration skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:228169 Autosomal dominant striatal neurodegeneration skos:exactMatch OMIM:609161 Unspecified -Orphanet:228169 Autosomal dominant striatal neurodegeneration skos:exactMatch UMLS:C1836694 Unspecified -Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref UMLS:C0877024 Unspecified -Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref MedDRA:10048699 Unspecified -Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref MESH:C536629 Unspecified -Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref OMIM:242900 Unspecified -Orphanet:1830 Schimke immuno-osseous dysplasia skos:exactMatch OMIM:242900 Unspecified -Orphanet:1830 Schimke immuno-osseous dysplasia skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:1830 Schimke immuno-osseous dysplasia skos:exactMatch MESH:C536629 Unspecified -Orphanet:1830 Schimke immuno-osseous dysplasia skos:exactMatch MedDRA:10048699 Unspecified -Orphanet:1830 Schimke immuno-osseous dysplasia skos:exactMatch UMLS:C0877024 Unspecified -Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency oboInOwl:hasDbXref ICD10:D81.2 Unspecified -Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency oboInOwl:hasDbXref OMIM:615897 Unspecified -Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency skos:broadMatch ICD10:D81.2 Unspecified -Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch OMIM:615897 Unspecified -Orphanet:314566 Primary progressive apraxia of speech oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:314566 Primary progressive apraxia of speech skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref UMLS:C0019343 Unspecified -Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref MESH:D006559 Unspecified -Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref ICD10:L12.8 Unspecified -Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref MedDRA:10019939 Unspecified -Orphanet:63275 Pemphigoid gestationis skos:exactMatch MedDRA:10019939 Unspecified -Orphanet:63275 Pemphigoid gestationis skos:exactMatch MESH:D006559 Unspecified -Orphanet:63275 Pemphigoid gestationis skos:exactMatch UMLS:C0019343 Unspecified -Orphanet:63275 Pemphigoid gestationis skos:broadMatch ICD10:L12.8 Unspecified -Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref MESH:C536935 Unspecified -Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:191420 Unspecified -Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1860615 Unspecified -Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q78.5 Unspecified -Orphanet:1837 Ulna metaphyseal dysplasia syndrome skos:broadMatch ICD10:Q78.5 Unspecified -Orphanet:1837 Ulna metaphyseal dysplasia syndrome skos:exactMatch UMLS:C1860615 Unspecified -Orphanet:1837 Ulna metaphyseal dysplasia syndrome skos:exactMatch MESH:C536935 Unspecified -Orphanet:1837 Ulna metaphyseal dysplasia syndrome skos:exactMatch OMIM:191420 Unspecified -Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref UMLS:C0220769 Unspecified -Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref MESH:C537923 Unspecified -Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref OMIM:305450 Unspecified -Orphanet:93932 FG syndrome type 1 skos:exactMatch MESH:C537923 Unspecified -Orphanet:93932 FG syndrome type 1 skos:exactMatch OMIM:305450 Unspecified -Orphanet:93932 FG syndrome type 1 skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:93932 FG syndrome type 1 skos:exactMatch UMLS:C0220769 Unspecified -Orphanet:454742 Variably protease-sensitive prionopathy oboInOwl:hasDbXref ICD10:A81.8 Unspecified -Orphanet:454742 Variably protease-sensitive prionopathy skos:broadMatch ICD10:A81.8 Unspecified -Orphanet:454745 Kuru oboInOwl:hasDbXref UMLS:C0022802 Unspecified -Orphanet:454745 Kuru oboInOwl:hasDbXref OMIM:245300 Unspecified -Orphanet:454745 Kuru oboInOwl:hasDbXref ICD10:A81.8 Unspecified -Orphanet:454745 Kuru skos:narrowMatch OMIM:245300 Unspecified -Orphanet:454745 Kuru skos:exactMatch UMLS:C0022802 Unspecified -Orphanet:454745 Kuru skos:broadMatch ICD10:A81.8 Unspecified -Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref OMIM:608088 Unspecified -Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref UMLS:C1842586 Unspecified -Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B skos:exactMatch UMLS:C1842586 Unspecified -Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B skos:exactMatch OMIM:608088 Unspecified -Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref OMIM:614065 Unspecified -Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement skos:exactMatch OMIM:614065 Unspecified -Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref OMIM:613287 Unspecified -Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref UMLS:C2750090 Unspecified -Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N skos:exactMatch UMLS:C2750090 Unspecified -Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N skos:exactMatch OMIM:613287 Unspecified -Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref UMLS:C1847902 Unspecified -Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref OMIM:606482 Unspecified -Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M skos:broadMatch OMIM:606482 Unspecified -Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M skos:exactMatch UMLS:C1847902 Unspecified -Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency oboInOwl:hasDbXref OMIM:615888 Unspecified -Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency oboInOwl:hasDbXref ICD10:D69.1 Unspecified -Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency skos:broadMatch ICD10:D69.1 Unspecified -Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency skos:exactMatch OMIM:615888 Unspecified -Orphanet:466722 Autosomal recessive spastic paraplegia type 77 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:466722 Autosomal recessive spastic paraplegia type 77 oboInOwl:hasDbXref OMIM:617046 Unspecified -Orphanet:466722 Autosomal recessive spastic paraplegia type 77 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:466722 Autosomal recessive spastic paraplegia type 77 skos:exactMatch OMIM:617046 Unspecified -Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref UMLS:C2678486 Unspecified -Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref OMIM:611816 Unspecified -Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.2 Unspecified -Orphanet:420561 Temple-Baraitser syndrome skos:exactMatch UMLS:C2678486 Unspecified -Orphanet:420561 Temple-Baraitser syndrome skos:broadMatch ICD10:Q87.2 Unspecified -Orphanet:420561 Temple-Baraitser syndrome skos:exactMatch OMIM:611816 Unspecified -Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref UMLS:C1850395 Unspecified -Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref OMIM:256840 Unspecified -Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia skos:exactMatch OMIM:256840 Unspecified -Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia skos:exactMatch UMLS:C1850395 Unspecified -Orphanet:93921 Schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 Unspecified -Orphanet:93921 Schwannomatosis oboInOwl:hasDbXref OMIM:162091 Unspecified -Orphanet:93921 Schwannomatosis oboInOwl:hasDbXref MESH:C536641 Unspecified -Orphanet:93921 Schwannomatosis oboInOwl:hasDbXref UMLS:C0917817 Unspecified -Orphanet:93921 Schwannomatosis oboInOwl:hasDbXref OMIM:162260 Unspecified -Orphanet:93921 Schwannomatosis oboInOwl:hasDbXref OMIM:615670 Unspecified -Orphanet:93921 Schwannomatosis oboInOwl:hasDbXref UMLS:C2931480 Unspecified -Orphanet:93921 Schwannomatosis oboInOwl:hasDbXref UMLS:C1335929 Unspecified -Orphanet:93921 Schwannomatosis skos:exactMatch UMLS:C1335929 Unspecified -Orphanet:93921 Schwannomatosis skos:exactMatch OMIM:162091 Unspecified -Orphanet:93921 Schwannomatosis skos:exactMatch MESH:C536641 Unspecified -Orphanet:93921 Schwannomatosis skos:narrowMatch OMIM:615670 Unspecified -Orphanet:93921 Schwannomatosis skos:narrowMatch OMIM:162260 Unspecified -Orphanet:93921 Schwannomatosis skos:exactMatch UMLS:C2931480 Unspecified -Orphanet:93921 Schwannomatosis skos:broadMatch ICD10:Q85.0 Unspecified -Orphanet:93921 Schwannomatosis skos:exactMatch UMLS:C0917817 Unspecified -Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref UMLS:C0023647 Unspecified -Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref MedDRA:10056959 Unspecified -Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref ICD10:L43.8 Unspecified -Orphanet:254449 Atrophic lichen planus skos:broadMatch ICD10:L43.8 Unspecified -Orphanet:254449 Atrophic lichen planus skos:exactMatch UMLS:C0023647 Unspecified -Orphanet:254449 Atrophic lichen planus skos:exactMatch MedDRA:10056959 Unspecified -Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:33402 Pediatric hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 Unspecified -Orphanet:33402 Pediatric hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 Unspecified -Orphanet:33402 Pediatric hepatocellular carcinoma skos:broadMatch OMIM:114550 Unspecified -Orphanet:33402 Pediatric hepatocellular carcinoma skos:broadMatch ICD10:C22.0 Unspecified -Orphanet:254478 Lichen planus pemphigoides oboInOwl:hasDbXref UMLS:C0406369 Unspecified -Orphanet:254478 Lichen planus pemphigoides oboInOwl:hasDbXref ICD10:L43.8 Unspecified -Orphanet:254478 Lichen planus pemphigoides skos:exactMatch UMLS:C0406369 Unspecified -Orphanet:254478 Lichen planus pemphigoides skos:broadMatch ICD10:L43.8 Unspecified -Orphanet:495274 Charcot-Marie-Tooth disease type 2T oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:495274 Charcot-Marie-Tooth disease type 2T oboInOwl:hasDbXref OMIM:617017 Unspecified -Orphanet:495274 Charcot-Marie-Tooth disease type 2T skos:broadMatch OMIM:617017 Unspecified -Orphanet:495274 Charcot-Marie-Tooth disease type 2T skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:609578 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:612422 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref ICD10:I42.5 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:617047 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:615248 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:115210 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:115210 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy skos:broadMatch OMIM:615248 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:612422 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy skos:exactMatch ICD10:I42.5 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy skos:broadMatch OMIM:617047 Unspecified -Orphanet:75249 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:609578 Unspecified -Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref ICD10:H53.8 Unspecified -Orphanet:420556 Visual snow syndrome skos:broadMatch ICD10:H53.8 Unspecified -Orphanet:558411 Idiopathic gastroparesis oboInOwl:hasDbXref ICD10:K31.8 Unspecified -Orphanet:558411 Idiopathic gastroparesis skos:broadMatch ICD10:K31.8 Unspecified -Orphanet:1852 X-linked retinal dysplasia oboInOwl:hasDbXref ICD10:Q14.1 Unspecified -Orphanet:1852 X-linked retinal dysplasia oboInOwl:hasDbXref OMIM:312550 Unspecified -Orphanet:1852 X-linked retinal dysplasia skos:exactMatch OMIM:312550 Unspecified -Orphanet:1852 X-linked retinal dysplasia skos:broadMatch ICD10:Q14.1 Unspecified -Orphanet:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref OMIM:607088 Unspecified -Orphanet:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS:C1846823 Unspecified -Orphanet:139547 Distal spinal muscular atrophy type 3 skos:exactMatch UMLS:C1846823 Unspecified -Orphanet:139547 Distal spinal muscular atrophy type 3 skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:139547 Distal spinal muscular atrophy type 3 skos:exactMatch OMIM:607088 Unspecified -Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref OMIM:271700 Unspecified -Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref UMLS:C0796173 Unspecified -Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref MESH:C535799 Unspecified -Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome skos:exactMatch MESH:C535799 Unspecified -Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome skos:exactMatch UMLS:C0796173 Unspecified -Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome skos:exactMatch OMIM:271700 Unspecified -Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref ICD10:G40.0 Unspecified -Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref OMIM:614418 Unspecified -Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures skos:narrowMatch OMIM:614418 Unspecified -Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures skos:broadMatch ICD10:G40.0 Unspecified -Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref ICD10:L43.1 Unspecified -Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref UMLS:C0023648 Unspecified -Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref MedDRA:10056960 Unspecified -Orphanet:33408 Bullous lichen planus skos:exactMatch MedDRA:10056960 Unspecified -Orphanet:33408 Bullous lichen planus skos:exactMatch ICD10:L43.1 Unspecified -Orphanet:33408 Bullous lichen planus skos:exactMatch UMLS:C0023648 Unspecified -Orphanet:254463 Lichen planus pigmentosus oboInOwl:hasDbXref ICD10:L43.8 Unspecified -Orphanet:254463 Lichen planus pigmentosus oboInOwl:hasDbXref UMLS:C0406366 Unspecified -Orphanet:254463 Lichen planus pigmentosus skos:broadMatch ICD10:L43.8 Unspecified -Orphanet:254463 Lichen planus pigmentosus skos:exactMatch UMLS:C0406366 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:201300 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:243000 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref UMLS:C0270914 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:613115 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:614213 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref UMLS:C0020072 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 skos:narrowMatch OMIM:614213 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 skos:narrowMatch OMIM:613115 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 skos:broadMatch OMIM:243000 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 skos:exactMatch UMLS:C0270914 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 skos:exactMatch UMLS:C0020072 Unspecified -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 skos:narrowMatch OMIM:201300 Unspecified -Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:I67.8 Unspecified -Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:broadMatch ICD10:I67.8 Unspecified -Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref UMLS:C1834559 Unspecified -Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref ICD10:G71.1 Unspecified -Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref OMIM:160120 Unspecified -Orphanet:972 Hereditary continuous muscle fiber activity skos:broadMatch OMIM:160120 Unspecified -Orphanet:972 Hereditary continuous muscle fiber activity skos:broadMatch ICD10:G71.1 Unspecified -Orphanet:972 Hereditary continuous muscle fiber activity skos:exactMatch UMLS:C1834559 Unspecified -Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref OMIM:300270 Unspecified -Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref MESH:C538051 Unspecified -Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref UMLS:C1846044 Unspecified -Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref ICD10:E27.4 Unspecified -Orphanet:977 Adrenomyodystrophy skos:exactMatch UMLS:C1846044 Unspecified -Orphanet:977 Adrenomyodystrophy skos:exactMatch OMIM:300270 Unspecified -Orphanet:977 Adrenomyodystrophy skos:broadMatch ICD10:E27.4 Unspecified -Orphanet:977 Adrenomyodystrophy skos:exactMatch MESH:C538051 Unspecified -Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref OMIM:614723 Unspecified -Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS:C0268120 Unspecified -Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS:C3665382 Unspecified -Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:976 Adenine phosphoribosyltransferase deficiency skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:976 Adenine phosphoribosyltransferase deficiency skos:exactMatch UMLS:C3665382 Unspecified -Orphanet:976 Adenine phosphoribosyltransferase deficiency skos:exactMatch UMLS:C0268120 Unspecified -Orphanet:976 Adenine phosphoribosyltransferase deficiency skos:exactMatch OMIM:614723 Unspecified -Orphanet:139557 X-linked distal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:139557 X-linked distal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS:C1845359 Unspecified -Orphanet:139557 X-linked distal spinal muscular atrophy type 3 oboInOwl:hasDbXref OMIM:300489 Unspecified -Orphanet:139557 X-linked distal spinal muscular atrophy type 3 skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:139557 X-linked distal spinal muscular atrophy type 3 skos:exactMatch OMIM:300489 Unspecified -Orphanet:139557 X-linked distal spinal muscular atrophy type 3 skos:exactMatch UMLS:C1845359 Unspecified -Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref UMLS:C0795974 Unspecified -Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref ICD10:Q81.8 Unspecified -Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref OMIM:302000 Unspecified -Orphanet:1867 Hereditary bullous dystrophy, macular type skos:exactMatch OMIM:302000 Unspecified -Orphanet:1867 Hereditary bullous dystrophy, macular type skos:exactMatch UMLS:C0795974 Unspecified -Orphanet:1867 Hereditary bullous dystrophy, macular type skos:broadMatch ICD10:Q81.8 Unspecified -Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type oboInOwl:hasDbXref OMIM:224410 Unspecified -Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type skos:exactMatch OMIM:224410 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:168601 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:614203 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref ICD10:G20 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:607688 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:614251 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:616361 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:605543 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:607060 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease skos:broadMatch ICD10:G20 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:614203 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:168601 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:605543 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:607060 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:616361 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:614251 Unspecified -Orphanet:411602 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:607688 Unspecified -Orphanet:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref OMIM:605726 Unspecified -Orphanet:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref UMLS:C1854023 Unspecified -Orphanet:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:139552 Distal hereditary motor neuropathy, Jerash type skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:139552 Distal hereditary motor neuropathy, Jerash type skos:exactMatch UMLS:C1854023 Unspecified -Orphanet:139552 Distal hereditary motor neuropathy, Jerash type skos:exactMatch OMIM:605726 Unspecified -Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref UMLS:C0917981 Unspecified -Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:454706 Progressive muscular atrophy skos:exactMatch UMLS:C0917981 Unspecified -Orphanet:454706 Progressive muscular atrophy skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:555402 NAD(P)HX dehydratase deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:555402 NAD(P)HX dehydratase deficiency oboInOwl:hasDbXref OMIM:618321 Unspecified -Orphanet:555402 NAD(P)HX dehydratase deficiency skos:exactMatch OMIM:618321 Unspecified -Orphanet:555402 NAD(P)HX dehydratase deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome oboInOwl:hasDbXref OMIM:604121 Unspecified -Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome skos:exactMatch OMIM:604121 Unspecified -Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.7 Unspecified -Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.1 Unspecified -Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.0 Unspecified -Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.8 Unspecified -Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.2 Unspecified -Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref UMLS:C2063873 Unspecified -Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas skos:exactMatch UMLS:C2063873 Unspecified -Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref OMIM:616115 Unspecified -Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome skos:exactMatch OMIM:616115 Unspecified -Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.3 Unspecified -Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref UMLS:C1335304 Unspecified -Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas skos:exactMatch UMLS:C1335304 Unspecified -Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas skos:broadMatch ICD10:C25.3 Unspecified -Orphanet:555407 NAD(P)HX epimerase deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:555407 NAD(P)HX epimerase deficiency oboInOwl:hasDbXref OMIM:617186 Unspecified -Orphanet:555407 NAD(P)HX epimerase deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:555407 NAD(P)HX epimerase deficiency skos:exactMatch OMIM:617186 Unspecified -Orphanet:65250 Perineural cyst oboInOwl:hasDbXref UMLS:C0520720 Unspecified -Orphanet:65250 Perineural cyst oboInOwl:hasDbXref ICD10:G54.8 Unspecified -Orphanet:65250 Perineural cyst skos:broadMatch ICD10:G54.8 Unspecified -Orphanet:65250 Perineural cyst skos:exactMatch UMLS:C0520720 Unspecified -Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:597 Central core disease oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:597 Central core disease oboInOwl:hasDbXref UMLS:C0751951 Unspecified -Orphanet:597 Central core disease oboInOwl:hasDbXref OMIM:117000 Unspecified -Orphanet:597 Central core disease skos:exactMatch UMLS:C0751951 Unspecified -Orphanet:597 Central core disease skos:exactMatch OMIM:117000 Unspecified -Orphanet:597 Central core disease skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref ICD10:H57.0 Unspecified -Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref OMIM:103100 Unspecified -Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref UMLS:C0001519 Unspecified -Orphanet:454718 Holmes-Adie syndrome skos:broadMatch ICD10:H57.0 Unspecified -Orphanet:454718 Holmes-Adie syndrome skos:broadMatch OMIM:103100 Unspecified -Orphanet:454718 Holmes-Adie syndrome skos:exactMatch UMLS:C0001519 Unspecified -Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref OMIM:310400 Unspecified -Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref UMLS:C0410203 Unspecified -Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref MESH:C538647 Unspecified -Orphanet:596 X-linked centronuclear myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:596 X-linked centronuclear myopathy skos:exactMatch MESH:C538647 Unspecified -Orphanet:596 X-linked centronuclear myopathy skos:exactMatch UMLS:C0410203 Unspecified -Orphanet:596 X-linked centronuclear myopathy skos:exactMatch OMIM:310400 Unspecified -Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref OMIM:613869 Unspecified -Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy skos:exactMatch OMIM:613869 Unspecified -Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:255320 Unspecified -Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:117000 Unspecified -Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:602771 Unspecified -Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref UMLS:C0270962 Unspecified -Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:598 Multiminicore myopathy skos:exactMatch UMLS:C0270962 Unspecified -Orphanet:598 Multiminicore myopathy skos:narrowMatch OMIM:602771 Unspecified -Orphanet:598 Multiminicore myopathy skos:broadMatch OMIM:117000 Unspecified -Orphanet:598 Multiminicore myopathy skos:narrowMatch OMIM:255320 Unspecified -Orphanet:598 Multiminicore myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref MedDRA:10011318 Unspecified -Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref UMLS:C0010276 Unspecified -Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref MESH:D003397 Unspecified -Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref ICD10:D44.4 Unspecified -Orphanet:54595 Craniopharyngioma skos:exactMatch ICD10:D44.4 Unspecified -Orphanet:54595 Craniopharyngioma skos:exactMatch MESH:D003397 Unspecified -Orphanet:54595 Craniopharyngioma skos:exactMatch UMLS:C0010276 Unspecified -Orphanet:54595 Craniopharyngioma skos:exactMatch MedDRA:10011318 Unspecified -Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref UMLS:C0023484 Unspecified -Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref ICD10:C90.1 Unspecified -Orphanet:454714 Plasma cell leukemia skos:exactMatch ICD10:C90.1 Unspecified -Orphanet:454714 Plasma cell leukemia skos:exactMatch UMLS:C0023484 Unspecified -Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome oboInOwl:hasDbXref OMIM:615273 Unspecified -Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome skos:exactMatch OMIM:615273 Unspecified -Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:591 Furuncular myiasis oboInOwl:hasDbXref ICD10:B87.0 Unspecified -Orphanet:591 Furuncular myiasis oboInOwl:hasDbXref UMLS:C2931766 Unspecified -Orphanet:591 Furuncular myiasis skos:broadMatch ICD10:B87.0 Unspecified -Orphanet:591 Furuncular myiasis skos:exactMatch UMLS:C2931766 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:614750 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616040 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616224 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616228 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref UMLS:C0751882 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616314 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:601462 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:608931 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:615120 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616323 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616321 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616325 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616330 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:614198 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:254190 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref ICD10:G70.2 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:617239 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:603034 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616227 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616304 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616313 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:254210 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616720 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:617143 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:608930 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616322 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616326 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616324 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:610542 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:605809 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref MESH:D020294 Unspecified -Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:254300 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:608930 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:605809 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:exactMatch MESH:D020294 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:617143 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:254300 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:610542 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:603034 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616227 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:617239 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:254210 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616720 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616304 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616326 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616322 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616324 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616313 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:608931 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:601462 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:exactMatch ICD10:G70.2 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:exactMatch UMLS:C0751882 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616224 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616228 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:254190 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:614750 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616040 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616330 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:614198 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:615120 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616321 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616323 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616325 Unspecified -Orphanet:590 Congenital myasthenic syndrome skos:narrowMatch OMIM:616314 Unspecified -Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref ICD10:M60.8 Unspecified -Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref MESH:C537829 Unspecified -Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref UMLS:C2931639 Unspecified -Orphanet:592 Macrophagic myofasciitis skos:exactMatch UMLS:C2931639 Unspecified -Orphanet:592 Macrophagic myofasciitis skos:broadMatch ICD10:M60.8 Unspecified -Orphanet:592 Macrophagic myofasciitis skos:exactMatch MESH:C537829 Unspecified -Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 Unspecified -Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 Unspecified -Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 Unspecified -Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref UMLS:C0279661 Unspecified -Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 Unspecified -Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 Unspecified -Orphanet:424046 Acinar cell carcinoma of pancreas skos:exactMatch UMLS:C0279661 Unspecified -Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.0 Unspecified -Orphanet:91547 Relapsing fever oboInOwl:hasDbXref MedDRA:10038300 Unspecified -Orphanet:91547 Relapsing fever oboInOwl:hasDbXref UMLS:C0035021 Unspecified -Orphanet:91547 Relapsing fever oboInOwl:hasDbXref MESH:D012061 Unspecified -Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.1 Unspecified -Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.9 Unspecified -Orphanet:91547 Relapsing fever skos:narrowMatch ICD10:A68.1 Unspecified -Orphanet:91547 Relapsing fever skos:narrowMatch ICD10:A68.9 Unspecified -Orphanet:91547 Relapsing fever skos:exactMatch MedDRA:10038300 Unspecified -Orphanet:91547 Relapsing fever skos:narrowMatch ICD10:A68.0 Unspecified -Orphanet:91547 Relapsing fever skos:exactMatch UMLS:C0035021 Unspecified -Orphanet:91547 Relapsing fever skos:exactMatch MESH:D012061 Unspecified -Orphanet:91546 Lyme disease oboInOwl:hasDbXref MESH:D008193 Unspecified -Orphanet:91546 Lyme disease oboInOwl:hasDbXref UMLS:C0024198 Unspecified -Orphanet:91546 Lyme disease oboInOwl:hasDbXref MedDRA:10025169 Unspecified -Orphanet:91546 Lyme disease oboInOwl:hasDbXref ICD10:A69.2 Unspecified -Orphanet:91546 Lyme disease skos:exactMatch MedDRA:10025169 Unspecified -Orphanet:91546 Lyme disease skos:exactMatch ICD10:A69.2 Unspecified -Orphanet:91546 Lyme disease skos:exactMatch UMLS:C0024198 Unspecified -Orphanet:91546 Lyme disease skos:exactMatch MESH:D008193 Unspecified -Orphanet:454710 Anti-p200 pemphigoid oboInOwl:hasDbXref ICD10:L12.8 Unspecified -Orphanet:454710 Anti-p200 pemphigoid skos:broadMatch ICD10:L12.8 Unspecified -Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 Unspecified -Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 Unspecified -Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 Unspecified -Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 Unspecified -Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 Unspecified -Orphanet:207000 Fungal myositis oboInOwl:hasDbXref UMLS:C0410251 Unspecified -Orphanet:207000 Fungal myositis oboInOwl:hasDbXref ICD10:M60.0 Unspecified -Orphanet:207000 Fungal myositis skos:broadMatch ICD10:M60.0 Unspecified -Orphanet:207000 Fungal myositis skos:exactMatch UMLS:C0410251 Unspecified -Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref UMLS:C0042170 Unspecified -Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10:H30.8 Unspecified -Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10:H20.8 Unspecified -Orphanet:3437 Vogt-Koyanagi-Harada disease skos:exactMatch UMLS:C0042170 Unspecified -Orphanet:3437 Vogt-Koyanagi-Harada disease skos:broadMatch ICD10:H20.8 Unspecified -Orphanet:3437 Vogt-Koyanagi-Harada disease skos:broadMatch ICD10:H30.8 Unspecified -Orphanet:397606 PrP systemic amyloidosis oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:397606 PrP systemic amyloidosis skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref UMLS:C0406817 Unspecified -Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref OMIM:115250 Unspecified -Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref ICD10:L94.8 Unspecified -Orphanet:53296 Familial cutaneous collagenoma skos:broadMatch ICD10:L94.8 Unspecified -Orphanet:53296 Familial cutaneous collagenoma skos:exactMatch UMLS:C0406817 Unspecified -Orphanet:53296 Familial cutaneous collagenoma skos:exactMatch OMIM:115250 Unspecified -Orphanet:314422 Ameloblastic carcinoma oboInOwl:hasDbXref ICD10:C41.1 Unspecified -Orphanet:314422 Ameloblastic carcinoma oboInOwl:hasDbXref UMLS:C1314678 Unspecified -Orphanet:314422 Ameloblastic carcinoma skos:exactMatch UMLS:C1314678 Unspecified -Orphanet:314422 Ameloblastic carcinoma skos:broadMatch ICD10:C41.1 Unspecified -Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref OMIM:604431 Unspecified -Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy skos:exactMatch OMIM:604431 Unspecified -Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy oboInOwl:hasDbXref OMIM:617111 Unspecified -Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy skos:exactMatch OMIM:617111 Unspecified -Orphanet:454723 Endometrioid carcinoma of ovary oboInOwl:hasDbXref UMLS:C0346163 Unspecified -Orphanet:454723 Endometrioid carcinoma of ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:454723 Endometrioid carcinoma of ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:454723 Endometrioid carcinoma of ovary skos:exactMatch UMLS:C0346163 Unspecified -Orphanet:424027 Progressive myoclonic epilepsy type 8 oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:424027 Progressive myoclonic epilepsy type 8 oboInOwl:hasDbXref OMIM:616230 Unspecified -Orphanet:424027 Progressive myoclonic epilepsy type 8 skos:exactMatch OMIM:616230 Unspecified -Orphanet:424027 Progressive myoclonic epilepsy type 8 skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:193510 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:600193 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:148820 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C0043008 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref MESH:D014849 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:611584 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:608890 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:193500 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref MedDRA:10069203 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:606662 Unspecified -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C3266898 Unspecified -Orphanet:3440 Waardenburg syndrome skos:exactMatch MedDRA:10069203 Unspecified -Orphanet:3440 Waardenburg syndrome skos:exactMatch UMLS:C3266898 Unspecified -Orphanet:3440 Waardenburg syndrome skos:narrowMatch OMIM:606662 Unspecified -Orphanet:3440 Waardenburg syndrome skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:3440 Waardenburg syndrome skos:narrowMatch OMIM:193500 Unspecified -Orphanet:3440 Waardenburg syndrome skos:narrowMatch OMIM:600193 Unspecified -Orphanet:3440 Waardenburg syndrome skos:narrowMatch OMIM:608890 Unspecified -Orphanet:3440 Waardenburg syndrome skos:exactMatch MESH:D014849 Unspecified -Orphanet:3440 Waardenburg syndrome skos:narrowMatch OMIM:148820 Unspecified -Orphanet:3440 Waardenburg syndrome skos:narrowMatch OMIM:193510 Unspecified -Orphanet:3440 Waardenburg syndrome skos:narrowMatch OMIM:611584 Unspecified -Orphanet:3440 Waardenburg syndrome skos:exactMatch UMLS:C0043008 Unspecified -Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref OMIM:142669 Unspecified -Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref ICD10:Q65.8 Unspecified -Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref UMLS:C1840572 Unspecified -Orphanet:2114 Hip dysplasia, Beukes type skos:exactMatch UMLS:C1840572 Unspecified -Orphanet:2114 Hip dysplasia, Beukes type skos:broadMatch ICD10:Q65.8 Unspecified -Orphanet:2114 Hip dysplasia, Beukes type skos:exactMatch OMIM:142669 Unspecified -Orphanet:2116 Hartnup disease oboInOwl:hasDbXref ICD10:E72.0 Unspecified -Orphanet:2116 Hartnup disease oboInOwl:hasDbXref MESH:D006250 Unspecified -Orphanet:2116 Hartnup disease oboInOwl:hasDbXref UMLS:C0018609 Unspecified -Orphanet:2116 Hartnup disease oboInOwl:hasDbXref OMIM:234500 Unspecified -Orphanet:2116 Hartnup disease oboInOwl:hasDbXref MedDRA:10019165 Unspecified -Orphanet:2116 Hartnup disease skos:exactMatch UMLS:C0018609 Unspecified -Orphanet:2116 Hartnup disease skos:exactMatch MedDRA:10019165 Unspecified -Orphanet:2116 Hartnup disease skos:exactMatch MESH:D006250 Unspecified -Orphanet:2116 Hartnup disease skos:exactMatch OMIM:234500 Unspecified -Orphanet:2116 Hartnup disease skos:broadMatch ICD10:E72.0 Unspecified -Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref OMIM:226200 Unspecified -Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref ICD10:K90.8 Unspecified -Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref UMLS:C0268416 Unspecified -Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency skos:exactMatch UMLS:C0268416 Unspecified -Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency skos:broadMatch ICD10:K90.8 Unspecified -Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency skos:exactMatch OMIM:226200 Unspecified -Orphanet:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref ICD10:Q85.8 Unspecified -Orphanet:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref UMLS:C2931468 Unspecified -Orphanet:2111 Cystic hamartoma of lung and kidney skos:broadMatch ICD10:Q85.8 Unspecified -Orphanet:2111 Cystic hamartoma of lung and kidney skos:exactMatch UMLS:C2931468 Unspecified -Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome oboInOwl:hasDbXref OMIM:609218 Unspecified -Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q15.8 Unspecified -Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome skos:broadMatch ICD10:Q15.8 Unspecified -Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome skos:exactMatch OMIM:609218 Unspecified -Orphanet:466703 TMEM199-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:466703 TMEM199-CDG oboInOwl:hasDbXref OMIM:616829 Unspecified -Orphanet:466703 TMEM199-CDG skos:exactMatch OMIM:616829 Unspecified -Orphanet:466703 TMEM199-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:2118 Hawkinsinuria oboInOwl:hasDbXref MESH:C535845 Unspecified -Orphanet:2118 Hawkinsinuria oboInOwl:hasDbXref OMIM:140350 Unspecified -Orphanet:2118 Hawkinsinuria oboInOwl:hasDbXref ICD10:E70.2 Unspecified -Orphanet:2118 Hawkinsinuria oboInOwl:hasDbXref UMLS:C2931042 Unspecified -Orphanet:2118 Hawkinsinuria skos:exactMatch OMIM:140350 Unspecified -Orphanet:2118 Hawkinsinuria skos:exactMatch UMLS:C2931042 Unspecified -Orphanet:2118 Hawkinsinuria skos:broadMatch ICD10:E70.2 Unspecified -Orphanet:2118 Hawkinsinuria skos:exactMatch MESH:C535845 Unspecified -Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref UMLS:C1853258 Unspecified -Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref OMIM:610227 Unspecified -Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements skos:exactMatch OMIM:610227 Unspecified -Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements skos:exactMatch UMLS:C1853258 Unspecified -Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref UMLS:C0002448 Unspecified -Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref MedDRA:10066796 Unspecified -Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref ICD10:D16.4 Unspecified -Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref ICD10:D16.5 Unspecified -Orphanet:314419 Ameloblastoma skos:broadMatch ICD10:D16.4 Unspecified -Orphanet:314419 Ameloblastoma skos:exactMatch MedDRA:10066796 Unspecified -Orphanet:314419 Ameloblastoma skos:exactMatch UMLS:C0002448 Unspecified -Orphanet:314419 Ameloblastoma skos:broadMatch ICD10:D16.5 Unspecified -Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency oboInOwl:hasDbXref OMIM:615768 Unspecified -Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency skos:exactMatch OMIM:615768 Unspecified -Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref UMLS:C0877208 Unspecified -Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref MedDRA:10049430 Unspecified -Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref ICD10:O90.3 Unspecified -Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref UMLS:C0269972 Unspecified -Orphanet:563 Peripartum cardiomyopathy skos:exactMatch UMLS:C0269972 Unspecified -Orphanet:563 Peripartum cardiomyopathy skos:exactMatch ICD10:O90.3 Unspecified -Orphanet:563 Peripartum cardiomyopathy skos:exactMatch MedDRA:10049430 Unspecified -Orphanet:563 Peripartum cardiomyopathy skos:exactMatch UMLS:C0877208 Unspecified -Orphanet:565 Menkes disease oboInOwl:hasDbXref ICD10:E83.0 Unspecified -Orphanet:565 Menkes disease oboInOwl:hasDbXref OMIM:309400 Unspecified -Orphanet:565 Menkes disease oboInOwl:hasDbXref MedDRA:10027294 Unspecified -Orphanet:565 Menkes disease oboInOwl:hasDbXref UMLS:C0022716 Unspecified -Orphanet:565 Menkes disease skos:exactMatch OMIM:309400 Unspecified -Orphanet:565 Menkes disease skos:exactMatch UMLS:C0022716 Unspecified -Orphanet:565 Menkes disease skos:exactMatch MedDRA:10027294 Unspecified -Orphanet:565 Menkes disease skos:broadMatch ICD10:E83.0 Unspecified -Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:141500 Unspecified -Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:607516 Unspecified -Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:602481 Unspecified -Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:609634 Unspecified -Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref ICD10:G43.1 Unspecified -Orphanet:569 Familial or sporadic hemiplegic migraine skos:broadMatch ICD10:G43.1 Unspecified -Orphanet:569 Familial or sporadic hemiplegic migraine skos:narrowMatch OMIM:141500 Unspecified -Orphanet:569 Familial or sporadic hemiplegic migraine skos:narrowMatch OMIM:602481 Unspecified -Orphanet:569 Familial or sporadic hemiplegic migraine skos:narrowMatch OMIM:609634 Unspecified -Orphanet:569 Familial or sporadic hemiplegic migraine skos:broadMatch OMIM:607516 Unspecified -Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion oboInOwl:hasDbXref ICD10:E20.8 Unspecified -Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion skos:broadMatch ICD10:E20.8 Unspecified -Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref UMLS:C0342436 Unspecified -Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref UMLS:C0271889 Unspecified -Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref ICD10:C72.8 Unspecified -Orphanet:1672 Diencephalic syndrome skos:exactMatch UMLS:C0271889 Unspecified -Orphanet:1672 Diencephalic syndrome skos:broadMatch ICD10:C72.8 Unspecified -Orphanet:1672 Diencephalic syndrome skos:exactMatch UMLS:C0342436 Unspecified -Orphanet:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C1306837 Unspecified -Orphanet:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:319298 Papillary renal cell carcinoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:319298 Papillary renal cell carcinoma skos:exactMatch UMLS:C1306837 Unspecified -Orphanet:31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 Unspecified -Orphanet:31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref OMIM:248250 Unspecified -Orphanet:31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement skos:broadMatch ICD10:E83.4 Unspecified -Orphanet:31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement skos:exactMatch OMIM:248250 Unspecified -Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref OMIM:618662 Unspecified -Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref ICD10:K59.1 Unspecified -Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref OMIM:520100 Unspecified -Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref UMLS:C1838912 Unspecified -Orphanet:1670 Chronic diarrhea with villous atrophy skos:exactMatch UMLS:C1838912 Unspecified -Orphanet:1670 Chronic diarrhea with villous atrophy skos:exactMatch OMIM:520100 Unspecified -Orphanet:1670 Chronic diarrhea with villous atrophy skos:broadMatch ICD10:K59.1 Unspecified -Orphanet:1670 Chronic diarrhea with villous atrophy skos:exactMatch OMIM:618662 Unspecified -Orphanet:1676 Idiopathic pulmonary artery dilatation oboInOwl:hasDbXref ICD10:E25.7 Unspecified -Orphanet:1676 Idiopathic pulmonary artery dilatation skos:broadMatch ICD10:E25.7 Unspecified -Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref ICD10:Q78.1 Unspecified -Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref OMIM:174800 Unspecified -Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref UMLS:C0242292 Unspecified -Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref MESH:D005359 Unspecified -Orphanet:562 McCune-Albright syndrome skos:exactMatch MESH:D005359 Unspecified -Orphanet:562 McCune-Albright syndrome skos:exactMatch UMLS:C0242292 Unspecified -Orphanet:562 McCune-Albright syndrome skos:broadMatch ICD10:Q78.1 Unspecified -Orphanet:562 McCune-Albright syndrome skos:exactMatch OMIM:174800 Unspecified -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MedDRA:10052622 Unspecified -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054067 Unspecified -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:274270 Unspecified -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1959620 Unspecified -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency skos:exactMatch UMLS:C1959620 Unspecified -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency skos:exactMatch OMIM:274270 Unspecified -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency skos:exactMatch MedDRA:10052622 Unspecified -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency skos:exactMatch MESH:D054067 Unspecified -Orphanet:1679 Diphtheria oboInOwl:hasDbXref MedDRA:10013023 Unspecified -Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.8 Unspecified -Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.2 Unspecified -Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.0 Unspecified -Orphanet:1679 Diphtheria oboInOwl:hasDbXref MESH:D004165 Unspecified -Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.9 Unspecified -Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.3 Unspecified -Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.1 Unspecified -Orphanet:1679 Diphtheria oboInOwl:hasDbXref UMLS:C0012546 Unspecified -Orphanet:1679 Diphtheria skos:narrowMatch ICD10:A36.0 Unspecified -Orphanet:1679 Diphtheria skos:narrowMatch ICD10:A36.2 Unspecified -Orphanet:1679 Diphtheria skos:narrowMatch ICD10:A36.8 Unspecified -Orphanet:1679 Diphtheria skos:exactMatch UMLS:C0012546 Unspecified -Orphanet:1679 Diphtheria skos:narrowMatch ICD10:A36.1 Unspecified -Orphanet:1679 Diphtheria skos:narrowMatch ICD10:A36.3 Unspecified -Orphanet:1679 Diphtheria skos:narrowMatch ICD10:A36.9 Unspecified -Orphanet:1679 Diphtheria skos:exactMatch MedDRA:10013023 Unspecified -Orphanet:1679 Diphtheria skos:exactMatch MESH:D004165 Unspecified -Orphanet:157954 ANE syndrome oboInOwl:hasDbXref OMIM:612079 Unspecified -Orphanet:157954 ANE syndrome oboInOwl:hasDbXref UMLS:C2677535 Unspecified -Orphanet:157954 ANE syndrome skos:exactMatch UMLS:C2677535 Unspecified -Orphanet:157954 ANE syndrome skos:exactMatch OMIM:612079 Unspecified -Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref ICD10:A02.8 Unspecified -Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref ICD10:A02.2 Unspecified -Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref ICD10:A02.0 Unspecified -Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref ICD10:A02.9 Unspecified -Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref ICD10:A02.1 Unspecified -Orphanet:324648 Invasive non-typhoidal salmonellosis skos:narrowMatch ICD10:A02.9 Unspecified -Orphanet:324648 Invasive non-typhoidal salmonellosis skos:narrowMatch ICD10:A02.1 Unspecified -Orphanet:324648 Invasive non-typhoidal salmonellosis skos:narrowMatch ICD10:A02.8 Unspecified -Orphanet:324648 Invasive non-typhoidal salmonellosis skos:narrowMatch ICD10:A02.2 Unspecified -Orphanet:324648 Invasive non-typhoidal salmonellosis skos:narrowMatch ICD10:A02.0 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:612225 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref ICD10:E13 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:610508 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:606392 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:606394 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:609812 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref UMLS:C0342276 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:125851 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:616511 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:613370 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:600496 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:616329 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:606391 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:125850 Unspecified -Orphanet:552 MODY oboInOwl:hasDbXref OMIM:613375 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:613370 Unspecified -Orphanet:552 MODY skos:broadMatch ICD10:E13 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:609812 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:616511 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:125851 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:606392 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:606394 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:612225 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:610508 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:613375 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:616329 Unspecified -Orphanet:552 MODY skos:exactMatch UMLS:C0342276 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:125850 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:606391 Unspecified -Orphanet:552 MODY skos:narrowMatch OMIM:600496 Unspecified -Orphanet:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref ICD10:D81.1 Unspecified -Orphanet:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref OMIM:233650 Unspecified -Orphanet:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref UMLS:C2673536 Unspecified -Orphanet:157949 Combined immunodeficiency with granulomatosis skos:exactMatch UMLS:C2673536 Unspecified -Orphanet:157949 Combined immunodeficiency with granulomatosis skos:broadMatch ICD10:D81.1 Unspecified -Orphanet:157949 Combined immunodeficiency with granulomatosis skos:exactMatch OMIM:233650 Unspecified -Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref ICD10:G10 Unspecified -Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref UMLS:C1858114 Unspecified -Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref OMIM:604802 Unspecified -Orphanet:157946 Huntington disease-like 3 skos:exactMatch OMIM:604802 Unspecified -Orphanet:157946 Huntington disease-like 3 skos:exactMatch UMLS:C1858114 Unspecified -Orphanet:157946 Huntington disease-like 3 skos:broadMatch ICD10:G10 Unspecified -Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N36.8 Unspecified -Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N32.8 Unspecified -Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N28.8 Unspecified -Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref OMIM:608895 Unspecified -Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin skos:broadMatch OMIM:608895 Unspecified -Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref UMLS:C0024814 Unspecified -Orphanet:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref OMIM:248800 Unspecified -Orphanet:559 Marinesco-Sjögren syndrome skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:559 Marinesco-Sjögren syndrome skos:exactMatch OMIM:248800 Unspecified -Orphanet:559 Marinesco-Sjögren syndrome skos:exactMatch UMLS:C0024814 Unspecified -Orphanet:558 Marfan syndrome oboInOwl:hasDbXref MESH:D008382 Unspecified -Orphanet:558 Marfan syndrome oboInOwl:hasDbXref UMLS:C0024796 Unspecified -Orphanet:558 Marfan syndrome oboInOwl:hasDbXref OMIM:610168 Unspecified -Orphanet:558 Marfan syndrome oboInOwl:hasDbXref ICD10:Q87.4 Unspecified -Orphanet:558 Marfan syndrome oboInOwl:hasDbXref MedDRA:10026829 Unspecified -Orphanet:558 Marfan syndrome oboInOwl:hasDbXref OMIM:154700 Unspecified -Orphanet:558 Marfan syndrome skos:exactMatch UMLS:C0024796 Unspecified -Orphanet:558 Marfan syndrome skos:exactMatch MESH:D008382 Unspecified -Orphanet:558 Marfan syndrome skos:narrowMatch OMIM:154700 Unspecified -Orphanet:558 Marfan syndrome skos:broadMatch OMIM:610168 Unspecified -Orphanet:558 Marfan syndrome skos:exactMatch MedDRA:10026829 Unspecified -Orphanet:558 Marfan syndrome skos:exactMatch ICD10:Q87.4 Unspecified -Orphanet:576370 Variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 Unspecified -Orphanet:576370 Variant Creutzfeldt-Jakob disease skos:broadMatch ICD10:A81.0 Unspecified -Orphanet:77292 Niemann-Pick disease type A oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:77292 Niemann-Pick disease type A oboInOwl:hasDbXref OMIM:257200 Unspecified -Orphanet:77292 Niemann-Pick disease type A oboInOwl:hasDbXref MESH:D052536 Unspecified -Orphanet:77292 Niemann-Pick disease type A oboInOwl:hasDbXref UMLS:C0268242 Unspecified -Orphanet:77292 Niemann-Pick disease type A skos:exactMatch OMIM:257200 Unspecified -Orphanet:77292 Niemann-Pick disease type A skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:77292 Niemann-Pick disease type A skos:exactMatch MESH:D052536 Unspecified -Orphanet:77292 Niemann-Pick disease type A skos:exactMatch UMLS:C0268242 Unspecified -Orphanet:77293 Niemann-Pick disease type B oboInOwl:hasDbXref OMIM:607616 Unspecified -Orphanet:77293 Niemann-Pick disease type B oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:77293 Niemann-Pick disease type B oboInOwl:hasDbXref MESH:D052537 Unspecified -Orphanet:77293 Niemann-Pick disease type B oboInOwl:hasDbXref UMLS:C0268243 Unspecified -Orphanet:77293 Niemann-Pick disease type B skos:exactMatch UMLS:C0268243 Unspecified -Orphanet:77293 Niemann-Pick disease type B skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:77293 Niemann-Pick disease type B skos:exactMatch MESH:D052537 Unspecified -Orphanet:77293 Niemann-Pick disease type B skos:exactMatch OMIM:607616 Unspecified -Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency oboInOwl:hasDbXref OMIM:615705 Unspecified -Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency skos:exactMatch OMIM:615705 Unspecified -Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MESH:D007968 Unspecified -Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref ICD10:A81.2 Unspecified -Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref UMLS:C0023524 Unspecified -Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MedDRA:10036807 Unspecified -Orphanet:217260 Progressive multifocal leukoencephalopathy skos:exactMatch MedDRA:10036807 Unspecified -Orphanet:217260 Progressive multifocal leukoencephalopathy skos:exactMatch UMLS:C0023524 Unspecified -Orphanet:217260 Progressive multifocal leukoencephalopathy skos:exactMatch ICD10:A81.2 Unspecified -Orphanet:217260 Progressive multifocal leukoencephalopathy skos:exactMatch MESH:D007968 Unspecified -Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency oboInOwl:hasDbXref OMIM:616949 Unspecified -Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency skos:exactMatch OMIM:616949 Unspecified -Orphanet:551 MERRF oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:551 MERRF oboInOwl:hasDbXref OMIM:545000 Unspecified -Orphanet:551 MERRF oboInOwl:hasDbXref UMLS:C0162672 Unspecified -Orphanet:551 MERRF oboInOwl:hasDbXref MedDRA:10069825 Unspecified -Orphanet:551 MERRF oboInOwl:hasDbXref MESH:D017243 Unspecified -Orphanet:551 MERRF skos:exactMatch MESH:D017243 Unspecified -Orphanet:551 MERRF skos:exactMatch OMIM:545000 Unspecified -Orphanet:551 MERRF skos:exactMatch MedDRA:10069825 Unspecified -Orphanet:551 MERRF skos:exactMatch UMLS:C0162672 Unspecified -Orphanet:551 MERRF skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref OMIM:609628 Unspecified -Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref MESH:C537839 Unspecified -Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref UMLS:C1864997 Unspecified -Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref MedDRA:10072223 Unspecified -Orphanet:77297 Majeed syndrome skos:exactMatch MedDRA:10072223 Unspecified -Orphanet:77297 Majeed syndrome skos:exactMatch UMLS:C1864997 Unspecified -Orphanet:77297 Majeed syndrome skos:exactMatch MESH:C537839 Unspecified -Orphanet:77297 Majeed syndrome skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:77297 Majeed syndrome skos:exactMatch OMIM:609628 Unspecified -Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 Unspecified -Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease skos:broadMatch ICD10:A81.0 Unspecified -Orphanet:550 MELAS oboInOwl:hasDbXref OMIM:540000 Unspecified -Orphanet:550 MELAS oboInOwl:hasDbXref MedDRA:10053872 Unspecified -Orphanet:550 MELAS oboInOwl:hasDbXref UMLS:C0162671 Unspecified -Orphanet:550 MELAS oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:550 MELAS oboInOwl:hasDbXref MESH:D017241 Unspecified -Orphanet:550 MELAS skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:550 MELAS skos:exactMatch MESH:D017241 Unspecified -Orphanet:550 MELAS skos:exactMatch UMLS:C0162671 Unspecified -Orphanet:550 MELAS skos:exactMatch OMIM:540000 Unspecified -Orphanet:550 MELAS skos:exactMatch MedDRA:10053872 Unspecified -Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.8 Unspecified -Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.4 Unspecified -Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.2 Unspecified -Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.0 Unspecified -Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.5 Unspecified -Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.3 Unspecified -Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.1 Unspecified -Orphanet:1685 Distomatosis oboInOwl:hasDbXref UMLS:C0040820 Unspecified -Orphanet:1685 Distomatosis skos:narrowMatch ICD10:B66.5 Unspecified -Orphanet:1685 Distomatosis skos:narrowMatch ICD10:B66.1 Unspecified -Orphanet:1685 Distomatosis skos:narrowMatch ICD10:B66.3 Unspecified -Orphanet:1685 Distomatosis skos:exactMatch UMLS:C0040820 Unspecified -Orphanet:1685 Distomatosis skos:narrowMatch ICD10:B66.0 Unspecified -Orphanet:1685 Distomatosis skos:narrowMatch ICD10:B66.2 Unspecified -Orphanet:1685 Distomatosis skos:narrowMatch ICD10:B66.4 Unspecified -Orphanet:1685 Distomatosis skos:broadMatch ICD10:B66.8 Unspecified -Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref OMIM:613161 Unspecified -Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref UMLS:C1291512 Unspecified -Orphanet:65287 Beta-ureidopropionase deficiency skos:exactMatch UMLS:C1291512 Unspecified -Orphanet:65287 Beta-ureidopropionase deficiency skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:65287 Beta-ureidopropionase deficiency skos:exactMatch OMIM:613161 Unspecified -Orphanet:217253 Limbic encephalitis with NMDA receptor antibodies oboInOwl:hasDbXref ICD10:G13.1 Unspecified -Orphanet:217253 Limbic encephalitis with NMDA receptor antibodies skos:broadMatch ICD10:G13.1 Unspecified -Orphanet:398961 Mucinous adenocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:398961 Mucinous adenocarcinoma of ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref UMLS:C1854063 Unspecified -Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref OMIM:615821 Unspecified -Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref ICD10:I42.0 Unspecified -Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref OMIM:605676 Unspecified -Orphanet:65282 Carvajal syndrome skos:broadMatch ICD10:I42.0 Unspecified -Orphanet:65282 Carvajal syndrome skos:exactMatch OMIM:605676 Unspecified -Orphanet:65282 Carvajal syndrome skos:narrowMatch OMIM:615821 Unspecified -Orphanet:65282 Carvajal syndrome skos:exactMatch UMLS:C1854063 Unspecified -Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref UMLS:C0301928 Unspecified -Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref ICD10:D69.2 Unspecified -Orphanet:324636 Autoerythrocyte sensitization syndrome skos:broadMatch ICD10:D69.2 Unspecified -Orphanet:324636 Autoerythrocyte sensitization syndrome skos:exactMatch UMLS:C0301928 Unspecified -Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref ICD10:G10 Unspecified -Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref UMLS:C1864112 Unspecified -Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref OMIM:603218 Unspecified -Orphanet:157941 Huntington disease-like 1 skos:exactMatch OMIM:603218 Unspecified -Orphanet:157941 Huntington disease-like 1 skos:exactMatch UMLS:C1864112 Unspecified -Orphanet:157941 Huntington disease-like 1 skos:broadMatch ICD10:G10 Unspecified -Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref OMIM:607483 Unspecified -Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref MESH:C537658 Unspecified -Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref UMLS:C1843807 Unspecified -Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease skos:exactMatch UMLS:C1843807 Unspecified -Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease skos:broadMatch OMIM:607483 Unspecified -Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease skos:exactMatch MESH:C537658 Unspecified -Orphanet:324632 Hendra virus infection oboInOwl:hasDbXref ICD10:B33.8 Unspecified -Orphanet:324632 Hendra virus infection skos:broadMatch ICD10:B33.8 Unspecified -Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref UMLS:C1266181 Unspecified -Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref UMLS:C0391826 Unspecified -Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref OMIM:158350 Unspecified -Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref ICD10:Q04.8 Unspecified -Orphanet:65285 Lhermitte-Duclos disease skos:broadMatch ICD10:Q04.8 Unspecified -Orphanet:65285 Lhermitte-Duclos disease skos:exactMatch UMLS:C0391826 Unspecified -Orphanet:65285 Lhermitte-Duclos disease skos:exactMatch UMLS:C1266181 Unspecified -Orphanet:65285 Lhermitte-Duclos disease skos:broadMatch OMIM:158350 Unspecified -Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.8 Unspecified -Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.0 Unspecified -Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref MESH:D003550 Unspecified -Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref UMLS:C0010674 Unspecified -Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.9 Unspecified -Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.1 Unspecified -Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref MedDRA:10011762 Unspecified -Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref OMIM:219700 Unspecified -Orphanet:586 Cystic fibrosis skos:exactMatch MedDRA:10011762 Unspecified -Orphanet:586 Cystic fibrosis skos:exactMatch OMIM:219700 Unspecified -Orphanet:586 Cystic fibrosis skos:narrowMatch ICD10:E84.8 Unspecified -Orphanet:586 Cystic fibrosis skos:narrowMatch ICD10:E84.0 Unspecified -Orphanet:586 Cystic fibrosis skos:exactMatch MESH:D003550 Unspecified -Orphanet:586 Cystic fibrosis skos:narrowMatch ICD10:E84.9 Unspecified -Orphanet:586 Cystic fibrosis skos:narrowMatch ICD10:E84.1 Unspecified -Orphanet:586 Cystic fibrosis skos:exactMatch UMLS:C0010674 Unspecified -Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref UMLS:C0268263 Unspecified -Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref OMIM:272200 Unspecified -Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref UMLS:C1720864 Unspecified -Orphanet:585 Multiple sulfatase deficiency skos:exactMatch UMLS:C0268263 Unspecified -Orphanet:585 Multiple sulfatase deficiency skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:585 Multiple sulfatase deficiency skos:exactMatch OMIM:272200 Unspecified -Orphanet:585 Multiple sulfatase deficiency skos:exactMatch UMLS:C1720864 Unspecified -Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref UMLS:C1321489 Unspecified -Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref ICD10:L72.8 Unspecified -Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref OMIM:158320 Unspecified -Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref MedDRA:10063042 Unspecified -Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref MESH:D055653 Unspecified -Orphanet:587 Muir-Torre syndrome skos:exactMatch MESH:D055653 Unspecified -Orphanet:587 Muir-Torre syndrome skos:exactMatch MedDRA:10063042 Unspecified -Orphanet:587 Muir-Torre syndrome skos:exactMatch OMIM:158320 Unspecified -Orphanet:587 Muir-Torre syndrome skos:exactMatch UMLS:C1321489 Unspecified -Orphanet:587 Muir-Torre syndrome skos:broadMatch ICD10:L72.8 Unspecified -Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:159400 Unspecified -Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref MESH:D009157 Unspecified -Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:254200 Unspecified -Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 Unspecified -Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref UMLS:C0026896 Unspecified -Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:607085 Unspecified -Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref MedDRA:10028417 Unspecified -Orphanet:589 Myasthenia gravis skos:exactMatch MedDRA:10028417 Unspecified -Orphanet:589 Myasthenia gravis skos:narrowMatch OMIM:607085 Unspecified -Orphanet:589 Myasthenia gravis skos:exactMatch UMLS:C0026896 Unspecified -Orphanet:589 Myasthenia gravis skos:exactMatch ICD10:G70.0 Unspecified -Orphanet:589 Myasthenia gravis skos:exactMatch MESH:D009157 Unspecified -Orphanet:589 Myasthenia gravis skos:exactMatch OMIM:254200 Unspecified -Orphanet:589 Myasthenia gravis skos:narrowMatch OMIM:159400 Unspecified -Orphanet:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref OMIM:614338 Unspecified -Orphanet:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref ICD10:K90.3 Unspecified -Orphanet:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref UMLS:C0268240 Unspecified -Orphanet:309031 Pancreatic triacylglycerol lipase deficiency skos:exactMatch UMLS:C0268240 Unspecified -Orphanet:309031 Pancreatic triacylglycerol lipase deficiency skos:exactMatch OMIM:614338 Unspecified -Orphanet:309031 Pancreatic triacylglycerol lipase deficiency skos:broadMatch ICD10:K90.3 Unspecified -Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 Unspecified -Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy skos:broadMatch ICD10:G61.8 Unspecified -Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 Unspecified -Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 Unspecified -Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 Unspecified -Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 Unspecified -Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 Unspecified -Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref UMLS:C1335315 Unspecified -Orphanet:424073 Serous cystadenocarcinoma of pancreas skos:exactMatch UMLS:C1335315 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref UMLS:C2718304 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref OMIM:309900 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref MedDRA:10056889 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref UMLS:C0026705 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref ICD10:E76.1 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref MESH:D016532 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 skos:exactMatch ICD10:E76.1 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 skos:exactMatch MESH:D016532 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 skos:exactMatch MedDRA:10056889 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 skos:exactMatch UMLS:C0026705 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 skos:exactMatch UMLS:C2718304 Unspecified -Orphanet:580 Mucopolysaccharidosis type 2 skos:exactMatch OMIM:309900 Unspecified -Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:615774 Unspecified -Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:617712 Unspecified -Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:618353 Unspecified -Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref ICD10:N97.8 Unspecified -Orphanet:404466 Female infertility due to zona pellucida defect skos:broadMatch ICD10:N97.8 Unspecified -Orphanet:404466 Female infertility due to zona pellucida defect skos:exactMatch OMIM:617712 Unspecified -Orphanet:404466 Female infertility due to zona pellucida defect skos:exactMatch OMIM:618353 Unspecified -Orphanet:404466 Female infertility due to zona pellucida defect skos:exactMatch OMIM:615774 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref MedDRA:10028095 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref UMLS:C0026707 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:253000 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:252300 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref UMLS:C0086651 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref MESH:D009085 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:253010 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref ICD10:E76.2 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 skos:broadMatch ICD10:E76.2 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 skos:narrowMatch OMIM:252300 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 skos:narrowMatch OMIM:253000 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 skos:exactMatch MESH:D009085 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 skos:narrowMatch OMIM:253010 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 skos:exactMatch MedDRA:10028095 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 skos:exactMatch UMLS:C0086651 Unspecified -Orphanet:582 Mucopolysaccharidosis type 4 skos:exactMatch UMLS:C0026707 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref UMLS:C0086648 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref MedDRA:10056890 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref MESH:D009084 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252900 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252940 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252920 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref ICD10:E76.2 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref UMLS:C0026706 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252930 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 skos:exactMatch UMLS:C0026706 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252920 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252940 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252900 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 skos:exactMatch MESH:D009084 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 skos:exactMatch MedDRA:10056890 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 skos:exactMatch UMLS:C0086648 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 skos:broadMatch ICD10:E76.2 Unspecified -Orphanet:581 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252930 Unspecified -Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome oboInOwl:hasDbXref OMIM:613834 Unspecified -Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome oboInOwl:hasDbXref ICD10:I73.8 Unspecified -Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome skos:broadMatch ICD10:I73.8 Unspecified -Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome skos:exactMatch OMIM:613834 Unspecified -Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref ICD10:E76.2 Unspecified -Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref UMLS:C0085132 Unspecified -Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref MedDRA:10056893 Unspecified -Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref MESH:D016538 Unspecified -Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref OMIM:253220 Unspecified -Orphanet:584 Mucopolysaccharidosis type 7 skos:exactMatch MESH:D016538 Unspecified -Orphanet:584 Mucopolysaccharidosis type 7 skos:broadMatch ICD10:E76.2 Unspecified -Orphanet:584 Mucopolysaccharidosis type 7 skos:exactMatch OMIM:253220 Unspecified -Orphanet:584 Mucopolysaccharidosis type 7 skos:exactMatch UMLS:C0085132 Unspecified -Orphanet:584 Mucopolysaccharidosis type 7 skos:exactMatch MedDRA:10056893 Unspecified -Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref OMIM:253200 Unspecified -Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref UMLS:C0026709 Unspecified -Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref MedDRA:10056892 Unspecified -Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref MESH:D009087 Unspecified -Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref ICD10:E76.2 Unspecified -Orphanet:583 Mucopolysaccharidosis type 6 skos:exactMatch MedDRA:10056892 Unspecified -Orphanet:583 Mucopolysaccharidosis type 6 skos:exactMatch UMLS:C0026709 Unspecified -Orphanet:583 Mucopolysaccharidosis type 6 skos:exactMatch OMIM:253200 Unspecified -Orphanet:583 Mucopolysaccharidosis type 6 skos:broadMatch ICD10:E76.2 Unspecified -Orphanet:583 Mucopolysaccharidosis type 6 skos:exactMatch MESH:D009087 Unspecified -Orphanet:398971 Clear cell adenocarcinoma of the ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:398971 Clear cell adenocarcinoma of the ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:424080 Osteoclastic giant cell tumor of pancreas oboInOwl:hasDbXref ICD10:C25.7 Unspecified -Orphanet:424080 Osteoclastic giant cell tumor of pancreas oboInOwl:hasDbXref ICD10:C25.1 Unspecified -Orphanet:424080 Osteoclastic giant cell tumor of pancreas oboInOwl:hasDbXref ICD10:C25.8 Unspecified -Orphanet:424080 Osteoclastic giant cell tumor of pancreas oboInOwl:hasDbXref ICD10:C25.2 Unspecified -Orphanet:424080 Osteoclastic giant cell tumor of pancreas oboInOwl:hasDbXref ICD10:C25.0 Unspecified -Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref UMLS:C0342731 Unspecified -Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref MedDRA:10072221 Unspecified -Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref UMLS:C1959626 Unspecified -Orphanet:309025 Mevalonate kinase deficiency skos:exactMatch MedDRA:10072221 Unspecified -Orphanet:309025 Mevalonate kinase deficiency skos:exactMatch UMLS:C1959626 Unspecified -Orphanet:309025 Mevalonate kinase deficiency skos:exactMatch UMLS:C0342731 Unspecified -Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref ICD10:E85.0 Unspecified -Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref MedDRA:10064569 Unspecified -Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref OMIM:191900 Unspecified -Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref UMLS:C0268390 Unspecified -Orphanet:575 Muckle-Wells syndrome skos:exactMatch UMLS:C0268390 Unspecified -Orphanet:575 Muckle-Wells syndrome skos:exactMatch OMIM:191900 Unspecified -Orphanet:575 Muckle-Wells syndrome skos:exactMatch MedDRA:10064569 Unspecified -Orphanet:575 Muckle-Wells syndrome skos:broadMatch ICD10:E85.0 Unspecified -Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref ICD10:C96.7 Unspecified -Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref ICD10:G63.1 Unspecified -Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref ICD10:E77.0 Unspecified -Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref OMIM:252605 Unspecified -Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref OMIM:252600 Unspecified -Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref UMLS:C0033788 Unspecified -Orphanet:577 Mucolipidosis type III skos:narrowMatch OMIM:252600 Unspecified -Orphanet:577 Mucolipidosis type III skos:exactMatch UMLS:C0033788 Unspecified -Orphanet:577 Mucolipidosis type III skos:narrowMatch OMIM:252605 Unspecified -Orphanet:577 Mucolipidosis type III skos:broadMatch ICD10:E77.0 Unspecified -Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref UMLS:C0020725 Unspecified -Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref UMLS:C2931894 Unspecified -Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref MESH:C538602 Unspecified -Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref OMIM:252500 Unspecified -Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref ICD10:E77.0 Unspecified -Orphanet:576 Mucolipidosis type II skos:broadMatch ICD10:E77.0 Unspecified -Orphanet:576 Mucolipidosis type II skos:exactMatch MESH:C538602 Unspecified -Orphanet:576 Mucolipidosis type II skos:exactMatch UMLS:C0020725 Unspecified -Orphanet:576 Mucolipidosis type II skos:exactMatch UMLS:C2931894 Unspecified -Orphanet:576 Mucolipidosis type II skos:exactMatch OMIM:252500 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref MedDRA:10056886 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref UMLS:C2713321 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607015 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref ICD10:E76.0 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref MESH:D008059 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref UMLS:C0023786 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607016 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607014 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 skos:narrowMatch OMIM:607015 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 skos:exactMatch UMLS:C0023786 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 skos:narrowMatch OMIM:607016 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 skos:narrowMatch OMIM:607014 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 skos:exactMatch ICD10:E76.0 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 skos:exactMatch MedDRA:10056886 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 skos:exactMatch MESH:D008059 Unspecified -Orphanet:579 Mucopolysaccharidosis type 1 skos:exactMatch UMLS:C2713321 Unspecified -Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref UMLS:C0238286 Unspecified -Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref ICD10:E75.1 Unspecified -Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref OMIM:252650 Unspecified -Orphanet:578 Mucolipidosis type IV skos:broadMatch ICD10:E75.1 Unspecified -Orphanet:578 Mucolipidosis type IV skos:exactMatch OMIM:252650 Unspecified -Orphanet:578 Mucolipidosis type IV skos:exactMatch UMLS:C0238286 Unspecified -Orphanet:448010 CAD-CDG oboInOwl:hasDbXref OMIM:616457 Unspecified -Orphanet:448010 CAD-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:448010 CAD-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:448010 CAD-CDG skos:exactMatch OMIM:616457 Unspecified -Orphanet:398987 Malignant teratoma of ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:398987 Malignant teratoma of ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:3402 Transient tyrosinemia of the newborn oboInOwl:hasDbXref ICD10:P74.5 Unspecified -Orphanet:3402 Transient tyrosinemia of the newborn skos:exactMatch ICD10:P74.5 Unspecified -Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 Unspecified -Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 Unspecified -Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 Unspecified -Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 Unspecified -Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 Unspecified -Orphanet:570 Moebius syndrome oboInOwl:hasDbXref UMLS:C0221060 Unspecified -Orphanet:570 Moebius syndrome oboInOwl:hasDbXref ICD10:Q87.0 Unspecified -Orphanet:570 Moebius syndrome oboInOwl:hasDbXref UMLS:C0853240 Unspecified -Orphanet:570 Moebius syndrome oboInOwl:hasDbXref MedDRA:10030069 Unspecified -Orphanet:570 Moebius syndrome oboInOwl:hasDbXref MESH:D020331 Unspecified -Orphanet:570 Moebius syndrome oboInOwl:hasDbXref OMIM:157900 Unspecified -Orphanet:570 Moebius syndrome skos:exactMatch OMIM:157900 Unspecified -Orphanet:570 Moebius syndrome skos:exactMatch UMLS:C0853240 Unspecified -Orphanet:570 Moebius syndrome skos:exactMatch MedDRA:10030069 Unspecified -Orphanet:570 Moebius syndrome skos:exactMatch MESH:D020331 Unspecified -Orphanet:570 Moebius syndrome skos:broadMatch ICD10:Q87.0 Unspecified -Orphanet:570 Moebius syndrome skos:exactMatch UMLS:C0221060 Unspecified -Orphanet:573 Monilethrix oboInOwl:hasDbXref MESH:D056734 Unspecified -Orphanet:573 Monilethrix oboInOwl:hasDbXref UMLS:C0546966 Unspecified -Orphanet:573 Monilethrix oboInOwl:hasDbXref OMIM:158000 Unspecified -Orphanet:573 Monilethrix oboInOwl:hasDbXref ICD10:Q84.1 Unspecified -Orphanet:573 Monilethrix skos:broadMatch ICD10:Q84.1 Unspecified -Orphanet:573 Monilethrix skos:exactMatch UMLS:C0546966 Unspecified -Orphanet:573 Monilethrix skos:exactMatch MESH:D056734 Unspecified -Orphanet:573 Monilethrix skos:exactMatch OMIM:158000 Unspecified -Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref UMLS:C2931418 Unspecified -Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref OMIM:209920 Unspecified -Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref ICD10:D81.7 Unspecified -Orphanet:572 Immunodeficiency by defective expression of MHC class II skos:exactMatch ICD10:D81.7 Unspecified -Orphanet:572 Immunodeficiency by defective expression of MHC class II skos:exactMatch UMLS:C2931418 Unspecified -Orphanet:572 Immunodeficiency by defective expression of MHC class II skos:exactMatch OMIM:209920 Unspecified -Orphanet:398980 Primary peritoneal serous/papillary carcinoma oboInOwl:hasDbXref ICD10:C48.1 Unspecified -Orphanet:398980 Primary peritoneal serous/papillary carcinoma oboInOwl:hasDbXref ICD10:C48.8 Unspecified -Orphanet:398980 Primary peritoneal serous/papillary carcinoma oboInOwl:hasDbXref ICD10:C48.0 Unspecified -Orphanet:398980 Primary peritoneal serous/papillary carcinoma oboInOwl:hasDbXref ICD10:C48.2 Unspecified -Orphanet:398980 Primary peritoneal serous/papillary carcinoma skos:broadMatch ICD10:C48.1 Unspecified -Orphanet:398980 Primary peritoneal serous/papillary carcinoma skos:broadMatch ICD10:C48.8 Unspecified -Orphanet:398980 Primary peritoneal serous/papillary carcinoma skos:broadMatch ICD10:C48.2 Unspecified -Orphanet:398980 Primary peritoneal serous/papillary carcinoma skos:broadMatch ICD10:C48.0 Unspecified -Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref MESH:C535932 Unspecified -Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref OMIM:614972 Unspecified -Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref ICD10:O26.6 Unspecified -Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref OMIM:147480 Unspecified -Orphanet:69665 Intrahepatic cholestasis of pregnancy skos:narrowMatch OMIM:614972 Unspecified -Orphanet:69665 Intrahepatic cholestasis of pregnancy skos:broadMatch ICD10:O26.6 Unspecified -Orphanet:69665 Intrahepatic cholestasis of pregnancy skos:exactMatch MESH:C535932 Unspecified -Orphanet:69665 Intrahepatic cholestasis of pregnancy skos:narrowMatch OMIM:147480 Unspecified -Orphanet:3406 Ulerythema ophryogenesis oboInOwl:hasDbXref OMIM:604093 Unspecified -Orphanet:3406 Ulerythema ophryogenesis skos:broadMatch OMIM:604093 Unspecified -Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref MedDRA:10068936 Unspecified -Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref ICD10:K80.8 Unspecified -Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref OMIM:600803 Unspecified -Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref UMLS:C2609268 Unspecified -Orphanet:69663 Low phospholipid-associated cholelithiasis skos:broadMatch ICD10:K80.8 Unspecified -Orphanet:69663 Low phospholipid-associated cholelithiasis skos:exactMatch UMLS:C2609268 Unspecified -Orphanet:69663 Low phospholipid-associated cholelithiasis skos:exactMatch OMIM:600803 Unspecified -Orphanet:69663 Low phospholipid-associated cholelithiasis skos:exactMatch MedDRA:10068936 Unspecified -Orphanet:206575 Rippling muscle disease with myasthenia gravis oboInOwl:hasDbXref ICD10:G70.8 Unspecified -Orphanet:206575 Rippling muscle disease with myasthenia gravis skos:broadMatch ICD10:G70.8 Unspecified -Orphanet:528663 Acquired angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:528663 Acquired angioedema with C1Inh deficiency skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:284984 Aneurysm-osteoarthritis syndrome oboInOwl:hasDbXref OMIM:613795 Unspecified -Orphanet:284984 Aneurysm-osteoarthritis syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:284984 Aneurysm-osteoarthritis syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:284984 Aneurysm-osteoarthritis syndrome skos:exactMatch OMIM:613795 Unspecified -Orphanet:206572 Overlap myositis oboInOwl:hasDbXref ICD10:M33.2 Unspecified -Orphanet:206572 Overlap myositis skos:broadMatch ICD10:M33.2 Unspecified -Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref UMLS:C0022810 Unspecified -Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref ICD10:A98.2 Unspecified -Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref MedDRA:10023505 Unspecified -Orphanet:319254 Kyasanur forest disease skos:exactMatch MedDRA:10023505 Unspecified -Orphanet:319254 Kyasanur forest disease skos:exactMatch UMLS:C0022810 Unspecified -Orphanet:319254 Kyasanur forest disease skos:exactMatch ICD10:A98.2 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:109543 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref UMLS:C0023434 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref UMLS:C1868683 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref MedDRA:10008958 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref UMLS:C0855095 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:609630 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612557 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612559 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.1 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:151400 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref MESH:D015451 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612558 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:exactMatch UMLS:C0855095 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:exactMatch UMLS:C1868683 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:exactMatch UMLS:C0023434 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:612558 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:broadMatch ICD10:C91.1 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:exactMatch MedDRA:10008958 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:exactMatch OMIM:151400 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:609630 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:612557 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:612559 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:109543 Unspecified -Orphanet:67038 B-cell chronic lymphocytic leukemia skos:exactMatch MESH:D015451 Unspecified -Orphanet:67039 Segmental odontomaxillary dysplasia oboInOwl:hasDbXref ICD10:K00.4 Unspecified -Orphanet:67039 Segmental odontomaxillary dysplasia skos:broadMatch ICD10:K00.4 Unspecified -Orphanet:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref OMIM:165300 Unspecified -Orphanet:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref MESH:C537128 Unspecified -Orphanet:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref ICD10:H47.2 Unspecified -Orphanet:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref UMLS:C1833809 Unspecified -Orphanet:67036 Autosomal dominant optic atrophy and cataract skos:exactMatch OMIM:165300 Unspecified -Orphanet:67036 Autosomal dominant optic atrophy and cataract skos:broadMatch ICD10:H47.2 Unspecified -Orphanet:67036 Autosomal dominant optic atrophy and cataract skos:exactMatch MESH:C537128 Unspecified -Orphanet:67036 Autosomal dominant optic atrophy and cataract skos:exactMatch UMLS:C1833809 Unspecified -Orphanet:157997 Benign cephalic histiocytosis oboInOwl:hasDbXref UMLS:C0347403 Unspecified -Orphanet:157997 Benign cephalic histiocytosis oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:157997 Benign cephalic histiocytosis skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:157997 Benign cephalic histiocytosis skos:exactMatch UMLS:C0347403 Unspecified -Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref OMIM:611067 Unspecified -Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref UMLS:C1970211 Unspecified -Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset skos:exactMatch OMIM:611067 Unspecified -Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset skos:exactMatch UMLS:C1970211 Unspecified -Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:157991 Generalized eruptive histiocytosis oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:157991 Generalized eruptive histiocytosis skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:451602 Primary cutaneous plasmacytosis oboInOwl:hasDbXref ICD10:L98.6 Unspecified -Orphanet:451602 Primary cutaneous plasmacytosis skos:broadMatch ICD10:L98.6 Unspecified -Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 oboInOwl:hasDbXref OMIM:613157 Unspecified -Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 skos:exactMatch OMIM:613157 Unspecified -Orphanet:451607 Cutaneous pseudolymphoma oboInOwl:hasDbXref UMLS:C0311220 Unspecified -Orphanet:451607 Cutaneous pseudolymphoma oboInOwl:hasDbXref ICD10:L98.6 Unspecified -Orphanet:451607 Cutaneous pseudolymphoma skos:exactMatch UMLS:C0311220 Unspecified -Orphanet:451607 Cutaneous pseudolymphoma skos:broadMatch ICD10:L98.6 Unspecified -Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome oboInOwl:hasDbXref OMIM:616816 Unspecified -Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:exactMatch OMIM:616816 Unspecified -Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 Unspecified -Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref MedDRA:10042953 Unspecified -Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.8 Unspecified -Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.2 Unspecified -Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref UMLS:C0036421 Unspecified -Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref OMIM:181750 Unspecified -Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 Unspecified -Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.9 Unspecified -Orphanet:90291 Systemic sclerosis skos:narrowMatch OMIM:181750 Unspecified -Orphanet:90291 Systemic sclerosis skos:narrowMatch ICD10:M34.1 Unspecified -Orphanet:90291 Systemic sclerosis skos:narrowMatch ICD10:M34.9 Unspecified -Orphanet:90291 Systemic sclerosis skos:exactMatch UMLS:C0036421 Unspecified -Orphanet:90291 Systemic sclerosis skos:exactMatch MedDRA:10042953 Unspecified -Orphanet:90291 Systemic sclerosis skos:narrowMatch ICD10:M34.2 Unspecified -Orphanet:90291 Systemic sclerosis skos:narrowMatch ICD10:M34.0 Unspecified -Orphanet:90291 Systemic sclerosis skos:narrowMatch ICD10:M34.8 Unspecified -Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 Unspecified -Orphanet:319244 Chapare hemorrhagic fever skos:broadMatch ICD10:A96.8 Unspecified -Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref MedDRA:10019143 Unspecified -Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref UMLS:C0243025 Unspecified -Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref ICD10:B33.4+ Unspecified -Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref ICD10:J17.1* Unspecified -Orphanet:319247 Hantavirus pulmonary syndrome skos:exactMatch ICD10:B33.4+ Unspecified -Orphanet:319247 Hantavirus pulmonary syndrome skos:exactMatch MedDRA:10019143 Unspecified -Orphanet:319247 Hantavirus pulmonary syndrome skos:exactMatch ICD10:J17.1* Unspecified -Orphanet:319247 Hantavirus pulmonary syndrome skos:exactMatch UMLS:C0243025 Unspecified -Orphanet:206569 Immune-mediated necrotizing myopathy oboInOwl:hasDbXref UMLS:C3267047 Unspecified -Orphanet:206569 Immune-mediated necrotizing myopathy oboInOwl:hasDbXref ICD10:G72.4 Unspecified -Orphanet:206569 Immune-mediated necrotizing myopathy skos:exactMatch UMLS:C3267047 Unspecified -Orphanet:206569 Immune-mediated necrotizing myopathy skos:broadMatch ICD10:G72.4 Unspecified -Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:614135 Unspecified -Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:600969 Unspecified -Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:600204 Unspecified -Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref ICD10:Q77.3 Unspecified -Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:broadMatch ICD10:Q77.3 Unspecified -Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:narrowMatch OMIM:600969 Unspecified -Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:narrowMatch OMIM:600204 Unspecified -Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:narrowMatch OMIM:614135 Unspecified -Orphanet:319251 Rift valley fever oboInOwl:hasDbXref UMLS:C0035613 Unspecified -Orphanet:319251 Rift valley fever oboInOwl:hasDbXref MedDRA:10039143 Unspecified -Orphanet:319251 Rift valley fever oboInOwl:hasDbXref ICD10:A92.4 Unspecified -Orphanet:319251 Rift valley fever skos:exactMatch ICD10:A92.4 Unspecified -Orphanet:319251 Rift valley fever skos:exactMatch MedDRA:10039143 Unspecified -Orphanet:319251 Rift valley fever skos:exactMatch UMLS:C0035613 Unspecified -Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 Unspecified -Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref MedDRA:10018651 Unspecified -Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref OMIM:614395 Unspecified -Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref UMLS:C0018133 Unspecified -Orphanet:39812 Graft versus host disease skos:exactMatch UMLS:C0018133 Unspecified -Orphanet:39812 Graft versus host disease skos:exactMatch OMIM:614395 Unspecified -Orphanet:39812 Graft versus host disease skos:exactMatch MedDRA:10018651 Unspecified -Orphanet:39812 Graft versus host disease skos:broadMatch ICD10:T86.0 Unspecified -Orphanet:565612 Triglyceride deposit cardiomyovasculopathy oboInOwl:hasDbXref ICD10:E75.5 Unspecified -Orphanet:565612 Triglyceride deposit cardiomyovasculopathy skos:broadMatch ICD10:E75.5 Unspecified -Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref OMIM:611588 Unspecified -Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref UMLS:C1969040 Unspecified -Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 skos:exactMatch UMLS:C1969040 Unspecified -Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 skos:exactMatch OMIM:611588 Unspecified -Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref ICD10:L93.2 Unspecified -Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref MedDRA:10025141 Unspecified -Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref UMLS:C0024145 Unspecified -Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref MESH:C535924 Unspecified -Orphanet:90280 Chilblain lupus skos:exactMatch UMLS:C0024145 Unspecified -Orphanet:90280 Chilblain lupus skos:broadMatch ICD10:L93.2 Unspecified -Orphanet:90280 Chilblain lupus skos:exactMatch MESH:C535924 Unspecified -Orphanet:90280 Chilblain lupus skos:exactMatch MedDRA:10025141 Unspecified -Orphanet:319276 Clear cell renal carcinoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:319276 Clear cell renal carcinoma oboInOwl:hasDbXref UMLS:C0279702 Unspecified -Orphanet:319276 Clear cell renal carcinoma skos:exactMatch UMLS:C0279702 Unspecified -Orphanet:319276 Clear cell renal carcinoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref OMIM:601560 Unspecified -Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref UMLS:C1832112 Unspecified -Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref ICD10:Q78.8 Unspecified -Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type skos:exactMatch UMLS:C1832112 Unspecified -Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type skos:broadMatch ICD10:Q78.8 Unspecified -Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type skos:exactMatch OMIM:601560 Unspecified -Orphanet:90282 Hypertrophic or verrucous lupus erythematosus oboInOwl:hasDbXref ICD10:L93.2 Unspecified -Orphanet:90282 Hypertrophic or verrucous lupus erythematosus skos:broadMatch ICD10:L93.2 Unspecified -Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref MedDRA:10013072 Unspecified -Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref ICD10:L93.0 Unspecified -Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref UMLS:C0024138 Unspecified -Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref MESH:D008179 Unspecified -Orphanet:90281 Discoid lupus erythematosus skos:exactMatch MESH:D008179 Unspecified -Orphanet:90281 Discoid lupus erythematosus skos:exactMatch UMLS:C0024138 Unspecified -Orphanet:90281 Discoid lupus erythematosus skos:exactMatch ICD10:L93.0 Unspecified -Orphanet:90281 Discoid lupus erythematosus skos:exactMatch MedDRA:10013072 Unspecified -Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref OMIM:607078 Unspecified -Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref UMLS:C1846843 Unspecified -Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref MESH:C535505 Unspecified -Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref ICD10:Q77.3 Unspecified -Orphanet:93311 Multiple epiphyseal dysplasia type 5 skos:exactMatch MESH:C535505 Unspecified -Orphanet:93311 Multiple epiphyseal dysplasia type 5 skos:broadMatch ICD10:Q77.3 Unspecified -Orphanet:93311 Multiple epiphyseal dysplasia type 5 skos:exactMatch UMLS:C1846843 Unspecified -Orphanet:93311 Multiple epiphyseal dysplasia type 5 skos:exactMatch OMIM:607078 Unspecified -Orphanet:90283 Lupus erythematosus tumidus oboInOwl:hasDbXref UMLS:C0406636 Unspecified -Orphanet:90283 Lupus erythematosus tumidus oboInOwl:hasDbXref ICD10:L93.2 Unspecified -Orphanet:90283 Lupus erythematosus tumidus skos:broadMatch ICD10:L93.2 Unspecified -Orphanet:90283 Lupus erythematosus tumidus skos:exactMatch UMLS:C0406636 Unspecified -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref OMIM:132450 Unspecified -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref UMLS:C1851536 Unspecified -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref ICD10:Q77.3 Unspecified -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type skos:exactMatch UMLS:C1851536 Unspecified -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type skos:broadMatch ICD10:Q77.3 Unspecified -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type skos:exactMatch OMIM:132450 Unspecified -Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 oboInOwl:hasDbXref OMIM:613158 Unspecified -Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 skos:exactMatch OMIM:613158 Unspecified -Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref MESH:D015435 Unspecified -Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref ICD10:L93.2 Unspecified -Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref UMLS:C0030327 Unspecified -Orphanet:90285 Lupus erythematosus panniculitis skos:broadMatch ICD10:L93.2 Unspecified -Orphanet:90285 Lupus erythematosus panniculitis skos:exactMatch MESH:D015435 Unspecified -Orphanet:90285 Lupus erythematosus panniculitis skos:exactMatch UMLS:C0030327 Unspecified -Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref MESH:C535793 Unspecified -Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref UMLS:C0432221 Unspecified -Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref OMIM:184255 Unspecified -Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch OMIM:184255 Unspecified -Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch UMLS:C0432221 Unspecified -Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch MESH:C535793 Unspecified -Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref OMIM:184252 Unspecified -Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref MESH:C535797 Unspecified -Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref UMLS:C0265280 Unspecified -Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch UMLS:C0265280 Unspecified -Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch MESH:C535797 Unspecified -Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch OMIM:184252 Unspecified -Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref UMLS:C0036420 Unspecified -Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref MESH:D012594 Unspecified -Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref MedDRA:10039712 Unspecified -Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref ICD10:L94.0 Unspecified -Orphanet:90289 Localized scleroderma skos:exactMatch MESH:D012594 Unspecified -Orphanet:90289 Localized scleroderma skos:exactMatch ICD10:L94.0 Unspecified -Orphanet:90289 Localized scleroderma skos:exactMatch MedDRA:10039712 Unspecified -Orphanet:90289 Localized scleroderma skos:exactMatch UMLS:C0036420 Unspecified -Orphanet:397685 Familial hyperprolactinemia oboInOwl:hasDbXref OMIM:615555 Unspecified -Orphanet:397685 Familial hyperprolactinemia oboInOwl:hasDbXref ICD10:E22.1 Unspecified -Orphanet:397685 Familial hyperprolactinemia skos:broadMatch ICD10:E22.1 Unspecified -Orphanet:397685 Familial hyperprolactinemia skos:exactMatch OMIM:615555 Unspecified -Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref UMLS:C1866688 Unspecified -Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref OMIM:184253 Unspecified -Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type skos:exactMatch UMLS:C1866688 Unspecified -Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type skos:exactMatch OMIM:184253 Unspecified -Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:411590 Wolfram-like syndrome oboInOwl:hasDbXref UMLS:C3280358 Unspecified -Orphanet:411590 Wolfram-like syndrome oboInOwl:hasDbXref ICD10:E13.8 Unspecified -Orphanet:411590 Wolfram-like syndrome oboInOwl:hasDbXref OMIM:614296 Unspecified -Orphanet:411590 Wolfram-like syndrome skos:exactMatch OMIM:614296 Unspecified -Orphanet:411590 Wolfram-like syndrome skos:broadMatch ICD10:E13.8 Unspecified -Orphanet:411590 Wolfram-like syndrome skos:exactMatch UMLS:C3280358 Unspecified -Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref UMLS:C2750785 Unspecified -Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref OMIM:613205 Unspecified -Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation skos:exactMatch OMIM:613205 Unspecified -Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation skos:exactMatch UMLS:C2750785 Unspecified -Orphanet:324625 Chikungunya oboInOwl:hasDbXref ICD10:A92.0 Unspecified -Orphanet:324625 Chikungunya oboInOwl:hasDbXref UMLS:C0008055 Unspecified -Orphanet:324625 Chikungunya skos:exactMatch UMLS:C0008055 Unspecified -Orphanet:324625 Chikungunya skos:exactMatch ICD10:A92.0 Unspecified -Orphanet:411593 Insulin autoimmune syndrome oboInOwl:hasDbXref UMLS:C0854359 Unspecified -Orphanet:411593 Insulin autoimmune syndrome oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:411593 Insulin autoimmune syndrome skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:411593 Insulin autoimmune syndrome skos:exactMatch UMLS:C0854359 Unspecified -Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref ICD10:E72.0 Unspecified -Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref MESH:C536171 Unspecified -Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref UMLS:C1857253 Unspecified -Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref OMIM:222730 Unspecified -Orphanet:2195 Dicarboxylic aminoaciduria skos:exactMatch OMIM:222730 Unspecified -Orphanet:2195 Dicarboxylic aminoaciduria skos:broadMatch ICD10:E72.0 Unspecified -Orphanet:2195 Dicarboxylic aminoaciduria skos:exactMatch MESH:C536171 Unspecified -Orphanet:2195 Dicarboxylic aminoaciduria skos:exactMatch UMLS:C1857253 Unspecified -Orphanet:2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref OMIM:248190 Unspecified -Orphanet:2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref UMLS:C1855466 Unspecified -Orphanet:2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref UMLS:C2931121 Unspecified -Orphanet:2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 Unspecified -Orphanet:2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement skos:exactMatch UMLS:C1855466 Unspecified -Orphanet:2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement skos:exactMatch UMLS:C2931121 Unspecified -Orphanet:2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement skos:exactMatch OMIM:248190 Unspecified -Orphanet:2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement skos:broadMatch ICD10:E83.4 Unspecified -Orphanet:284979 Neonatal Marfan syndrome oboInOwl:hasDbXref ICD10:Q87.4 Unspecified -Orphanet:284979 Neonatal Marfan syndrome skos:broadMatch ICD10:Q87.4 Unspecified -Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref OMIM:607258 Unspecified -Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref UMLS:C0543800 Unspecified -Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref ICD10:E83.5 Unspecified -Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref OMIM:143870 Unspecified -Orphanet:2197 Idiopathic hypercalciuria skos:narrowMatch OMIM:143870 Unspecified -Orphanet:2197 Idiopathic hypercalciuria skos:narrowMatch OMIM:607258 Unspecified -Orphanet:2197 Idiopathic hypercalciuria skos:broadMatch ICD10:E83.5 Unspecified -Orphanet:2197 Idiopathic hypercalciuria skos:exactMatch UMLS:C0543800 Unspecified -Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 Unspecified -Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:174000 Unspecified -Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:609886 Unspecified -Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:162000 Unspecified -Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:174000 Unspecified -Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:609886 Unspecified -Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease skos:exactMatch ICD10:Q61.5 Unspecified -Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:162000 Unspecified -Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref OMIM:601626 Unspecified -Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref MESH:D015456 Unspecified -Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref MedDRA:10067399 Unspecified -Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref ICD10:C95.0 Unspecified -Orphanet:530995 Mixed phenotype acute leukemia skos:narrowMatch MedDRA:10067399 Unspecified -Orphanet:530995 Mixed phenotype acute leukemia skos:broadMatch ICD10:C95.0 Unspecified -Orphanet:530995 Mixed phenotype acute leukemia skos:narrowMatch MESH:D015456 Unspecified -Orphanet:530995 Mixed phenotype acute leukemia skos:broadMatch OMIM:601626 Unspecified -Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref OMIM:611307 Unspecified -Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref UMLS:C1969785 Unspecified -Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 skos:exactMatch UMLS:C1969785 Unspecified -Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 skos:exactMatch OMIM:611307 Unspecified -Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.1 Unspecified -Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019103 Unspecified -Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref MedDRA:10030310 Unspecified -Orphanet:319266 Omsk hemorrhagic fever skos:exactMatch MedDRA:10030310 Unspecified -Orphanet:319266 Omsk hemorrhagic fever skos:exactMatch UMLS:C0019103 Unspecified -Orphanet:319266 Omsk hemorrhagic fever skos:exactMatch ICD10:A98.1 Unspecified -Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref UMLS:C1835664 Unspecified -Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref OMIM:148500 Unspecified -Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch OMIM:148500 Unspecified -Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch UMLS:C1835664 Unspecified -Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:144200 Unspecified -Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1721006 Unspecified -Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C2931735 Unspecified -Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C0343110 Unspecified -Orphanet:2199 Epidermolytic palmoplantar keratoderma skos:exactMatch UMLS:C0343110 Unspecified -Orphanet:2199 Epidermolytic palmoplantar keratoderma skos:exactMatch UMLS:C2931735 Unspecified -Orphanet:2199 Epidermolytic palmoplantar keratoderma skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:2199 Epidermolytic palmoplantar keratoderma skos:exactMatch OMIM:144200 Unspecified -Orphanet:2199 Epidermolytic palmoplantar keratoderma skos:exactMatch UMLS:C1721006 Unspecified -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref UMLS:C1846722 Unspecified -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref OMIM:607131 Unspecified -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref ICD10:Q77.3 Unspecified -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch UMLS:C1846722 Unspecified -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type skos:broadMatch ICD10:Q77.3 Unspecified -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch OMIM:607131 Unspecified -Orphanet:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref OMIM:616553 Unspecified -Orphanet:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 Unspecified -Orphanet:397692 Hereditary isolated aplastic anemia skos:broadMatch ICD10:D61.0 Unspecified -Orphanet:397692 Hereditary isolated aplastic anemia skos:narrowMatch OMIM:616553 Unspecified -Orphanet:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref UMLS:C0574084 Unspecified -Orphanet:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref MESH:C535311 Unspecified -Orphanet:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref OMIM:258501 Unspecified -Orphanet:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:67047 3-methylglutaconic aciduria type 3 skos:exactMatch OMIM:258501 Unspecified -Orphanet:67047 3-methylglutaconic aciduria type 3 skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:67047 3-methylglutaconic aciduria type 3 skos:exactMatch UMLS:C0574084 Unspecified -Orphanet:67047 3-methylglutaconic aciduria type 3 skos:exactMatch MESH:C535311 Unspecified -Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref UMLS:C1855126 Unspecified -Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref OMIM:250951 Unspecified -Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref UMLS:C0574085 Unspecified -Orphanet:67048 3-methylglutaconic aciduria type 4 skos:exactMatch UMLS:C1855126 Unspecified -Orphanet:67048 3-methylglutaconic aciduria type 4 skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:67048 3-methylglutaconic aciduria type 4 skos:exactMatch OMIM:250951 Unspecified -Orphanet:67048 3-methylglutaconic aciduria type 4 skos:exactMatch UMLS:C0574085 Unspecified -Orphanet:397695 3q27.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 Unspecified -Orphanet:397695 3q27.3 microdeletion syndrome skos:broadMatch ICD10:Q93.5 Unspecified -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref OMIM:609324 Unspecified -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref UMLS:C1836315 Unspecified -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref ICD10:Q77.3 Unspecified -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch UMLS:C1836315 Unspecified -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch OMIM:609324 Unspecified -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:broadMatch ICD10:Q77.3 Unspecified -Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref MESH:C535501 Unspecified -Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref ICD10:Q77.3 Unspecified -Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref UMLS:C1838280 Unspecified -Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref OMIM:132400 Unspecified -Orphanet:93308 Multiple epiphyseal dysplasia type 1 skos:exactMatch UMLS:C1838280 Unspecified -Orphanet:93308 Multiple epiphyseal dysplasia type 1 skos:exactMatch OMIM:132400 Unspecified -Orphanet:93308 Multiple epiphyseal dysplasia type 1 skos:exactMatch MESH:C535501 Unspecified -Orphanet:93308 Multiple epiphyseal dysplasia type 1 skos:broadMatch ICD10:Q77.3 Unspecified -Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref OMIM:226900 Unspecified -Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref UMLS:C1847593 Unspecified -Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref ICD10:Q77.3 Unspecified -Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref MESH:C535504 Unspecified -Orphanet:93307 Multiple epiphyseal dysplasia type 4 skos:exactMatch MESH:C535504 Unspecified -Orphanet:93307 Multiple epiphyseal dysplasia type 4 skos:broadMatch ICD10:Q77.3 Unspecified -Orphanet:93307 Multiple epiphyseal dysplasia type 4 skos:exactMatch UMLS:C1847593 Unspecified -Orphanet:93307 Multiple epiphyseal dysplasia type 4 skos:exactMatch OMIM:226900 Unspecified -Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref ICD10:E76.2 Unspecified -Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref UMLS:C1291490 Unspecified -Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref OMIM:601492 Unspecified -Orphanet:67041 Hyaluronidase deficiency skos:exactMatch UMLS:C1291490 Unspecified -Orphanet:67041 Hyaluronidase deficiency skos:exactMatch OMIM:601492 Unspecified -Orphanet:67041 Hyaluronidase deficiency skos:broadMatch ICD10:E76.2 Unspecified -Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref OMIM:605670 Unspecified -Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref UMLS:C1854065 Unspecified -Orphanet:67042 Late-onset retinal degeneration skos:exactMatch UMLS:C1854065 Unspecified -Orphanet:67042 Late-onset retinal degeneration skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:67042 Late-onset retinal degeneration skos:exactMatch OMIM:605670 Unspecified -Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref UMLS:C0342728 Unspecified -Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref OMIM:250950 Unspecified -Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref UMLS:C0342727 Unspecified -Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:67046 3-methylglutaconic aciduria type 1 skos:exactMatch UMLS:C0342727 Unspecified -Orphanet:67046 3-methylglutaconic aciduria type 1 skos:exactMatch OMIM:250950 Unspecified -Orphanet:67046 3-methylglutaconic aciduria type 1 skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:67046 3-methylglutaconic aciduria type 1 skos:exactMatch UMLS:C0342728 Unspecified -Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref MESH:D015823 Unspecified -Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref UMLS:C0000880 Unspecified -Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref ICD10:H19.2* Unspecified -Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref ICD10:B60.1+ Unspecified -Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref MedDRA:10069408 Unspecified -Orphanet:67043 Amoebic keratitis skos:exactMatch MedDRA:10069408 Unspecified -Orphanet:67043 Amoebic keratitis skos:broadMatch ICD10:B60.1+ Unspecified -Orphanet:67043 Amoebic keratitis skos:broadMatch ICD10:H19.2* Unspecified -Orphanet:67043 Amoebic keratitis skos:exactMatch MESH:D015823 Unspecified -Orphanet:67043 Amoebic keratitis skos:exactMatch UMLS:C0000880 Unspecified -Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:300367 Unspecified -Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C1845837 Unspecified -Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia skos:broadMatch OMIM:300367 Unspecified -Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia skos:exactMatch UMLS:C1845837 Unspecified -Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:424016 Adenocarcinoma of the anal canal oboInOwl:hasDbXref ICD10:C21.1 Unspecified -Orphanet:424016 Adenocarcinoma of the anal canal skos:broadMatch ICD10:C21.1 Unspecified -Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref MedDRA:10014071 Unspecified -Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref UMLS:C0282687 Unspecified -Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.4 Unspecified -Orphanet:319218 Ebola hemorrhagic fever skos:exactMatch ICD10:A98.4 Unspecified -Orphanet:319218 Ebola hemorrhagic fever skos:exactMatch MedDRA:10014071 Unspecified -Orphanet:319218 Ebola hemorrhagic fever skos:exactMatch UMLS:C0282687 Unspecified -Orphanet:443173 Postpartum psychosis oboInOwl:hasDbXref UMLS:C0520678 Unspecified -Orphanet:443173 Postpartum psychosis oboInOwl:hasDbXref ICD10:F53.1 Unspecified -Orphanet:443173 Postpartum psychosis skos:exactMatch UMLS:C0520678 Unspecified -Orphanet:443173 Postpartum psychosis skos:broadMatch ICD10:F53.1 Unspecified -Orphanet:589618 Dystonia 28 oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:589618 Dystonia 28 skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:424019 Squamous cell carcinoma of the anal canal oboInOwl:hasDbXref ICD10:C21.1 Unspecified -Orphanet:424019 Squamous cell carcinoma of the anal canal skos:broadMatch ICD10:C21.1 Unspecified -Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma oboInOwl:hasDbXref ICD10:D21.9 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma oboInOwl:hasDbXref OMIM:234820 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma oboInOwl:hasDbXref MedDRA:10018825 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma oboInOwl:hasDbXref MESH:D006393 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma oboInOwl:hasDbXref UMLS:C0018922 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma oboInOwl:hasDbXref UMLS:C1266119 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma skos:exactMatch MESH:D006393 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma skos:exactMatch UMLS:C1266119 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma skos:exactMatch UMLS:C0018922 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma skos:exactMatch MedDRA:10018825 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma skos:narrowMatch OMIM:234820 Unspecified -Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma skos:broadMatch ICD10:D21.9 Unspecified -Orphanet:611237 Parkinsonism with polyneuropathy oboInOwl:hasDbXref OMIM:619279 Unspecified -Orphanet:611237 Parkinsonism with polyneuropathy skos:exactMatch OMIM:619279 Unspecified -Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 Unspecified -Orphanet:319213 Lujo hemorrhagic fever skos:broadMatch ICD10:A96.8 Unspecified -Orphanet:3452 Whipple disease oboInOwl:hasDbXref MESH:D008061 Unspecified -Orphanet:3452 Whipple disease oboInOwl:hasDbXref MedDRA:10047931 Unspecified -Orphanet:3452 Whipple disease oboInOwl:hasDbXref UMLS:C2930851 Unspecified -Orphanet:3452 Whipple disease oboInOwl:hasDbXref MESH:C531849 Unspecified -Orphanet:3452 Whipple disease oboInOwl:hasDbXref UMLS:C0023788 Unspecified -Orphanet:3452 Whipple disease oboInOwl:hasDbXref ICD10:K90.8+ Unspecified -Orphanet:3452 Whipple disease oboInOwl:hasDbXref ICD10:M14.8* Unspecified -Orphanet:3452 Whipple disease skos:broadMatch ICD10:M14.8* Unspecified -Orphanet:3452 Whipple disease skos:exactMatch UMLS:C0023788 Unspecified -Orphanet:3452 Whipple disease skos:exactMatch MESH:D008061 Unspecified -Orphanet:3452 Whipple disease skos:broadMatch ICD10:K90.8+ Unspecified -Orphanet:3452 Whipple disease skos:exactMatch MedDRA:10047931 Unspecified -Orphanet:3452 Whipple disease skos:exactMatch MESH:C531849 Unspecified -Orphanet:3452 Whipple disease skos:exactMatch UMLS:C2930851 Unspecified -Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref UMLS:C1367420 Unspecified -Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref MESH:C537007 Unspecified -Orphanet:2122 Kaposiform hemangioendothelioma skos:exactMatch MESH:C537007 Unspecified -Orphanet:2122 Kaposiform hemangioendothelioma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:2122 Kaposiform hemangioendothelioma skos:exactMatch UMLS:C1367420 Unspecified -Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref UMLS:C3494489 Unspecified -Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref OMIM:240300 Unspecified -Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref UMLS:C0085859 Unspecified -Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref MESH:C538275 Unspecified -Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref ICD10:E31.0 Unspecified -Orphanet:3453 Autoimmune polyendocrinopathy type 1 skos:exactMatch MESH:C538275 Unspecified -Orphanet:3453 Autoimmune polyendocrinopathy type 1 skos:exactMatch UMLS:C0085859 Unspecified -Orphanet:3453 Autoimmune polyendocrinopathy type 1 skos:broadMatch ICD10:E31.0 Unspecified -Orphanet:3453 Autoimmune polyendocrinopathy type 1 skos:exactMatch OMIM:240300 Unspecified -Orphanet:3453 Autoimmune polyendocrinopathy type 1 skos:exactMatch UMLS:C3494489 Unspecified -Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref UMLS:C0280803 Unspecified -Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref UMLS:C0240803 Unspecified -Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref ICD10:C83.3 Unspecified -Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref MedDRA:10036685 Unspecified -Orphanet:46135 Primary central nervous system lymphoma skos:broadMatch ICD10:C83.3 Unspecified -Orphanet:46135 Primary central nervous system lymphoma skos:exactMatch MedDRA:10036685 Unspecified -Orphanet:46135 Primary central nervous system lymphoma skos:exactMatch UMLS:C0240803 Unspecified -Orphanet:46135 Primary central nervous system lymphoma skos:exactMatch UMLS:C0280803 Unspecified -Orphanet:565641 Primary desmosis coli oboInOwl:hasDbXref ICD10:K59.8 Unspecified -Orphanet:565641 Primary desmosis coli skos:broadMatch ICD10:K59.8 Unspecified -Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:614820 Unspecified -Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10:G98 Unspecified -Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref UMLS:C0338488 Unspecified -Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref MESH:C536589 Unspecified -Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:104290 Unspecified -Orphanet:2131 Alternating hemiplegia of childhood skos:exactMatch MESH:C536589 Unspecified -Orphanet:2131 Alternating hemiplegia of childhood skos:narrowMatch OMIM:614820 Unspecified -Orphanet:2131 Alternating hemiplegia of childhood skos:exactMatch UMLS:C0338488 Unspecified -Orphanet:2131 Alternating hemiplegia of childhood skos:broadMatch ICD10:G98 Unspecified -Orphanet:2131 Alternating hemiplegia of childhood skos:narrowMatch OMIM:104290 Unspecified -Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:205100 Unspecified -Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:614373 Unspecified -Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:602099 Unspecified -Orphanet:300605 Juvenile amyotrophic lateral sclerosis skos:narrowMatch OMIM:602099 Unspecified -Orphanet:300605 Juvenile amyotrophic lateral sclerosis skos:narrowMatch OMIM:614373 Unspecified -Orphanet:300605 Juvenile amyotrophic lateral sclerosis skos:narrowMatch OMIM:205100 Unspecified -Orphanet:300605 Juvenile amyotrophic lateral sclerosis skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref ICD10:G96.0 Unspecified -Orphanet:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref UMLS:C3850067 Unspecified -Orphanet:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref UMLS:C0751731 Unspecified -Orphanet:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref UMLS:C3544264 Unspecified -Orphanet:443180 Spontaneous intracranial hypotension skos:exactMatch ICD10:G96.0 Unspecified -Orphanet:443180 Spontaneous intracranial hypotension skos:exactMatch UMLS:C3850067 Unspecified -Orphanet:443180 Spontaneous intracranial hypotension skos:exactMatch UMLS:C0751731 Unspecified -Orphanet:443180 Spontaneous intracranial hypotension skos:exactMatch UMLS:C3544264 Unspecified -Orphanet:3467 Hereditary xanthinuria oboInOwl:hasDbXref OMIM:603592 Unspecified -Orphanet:3467 Hereditary xanthinuria oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:3467 Hereditary xanthinuria oboInOwl:hasDbXref OMIM:278300 Unspecified -Orphanet:3467 Hereditary xanthinuria skos:narrowMatch OMIM:603592 Unspecified -Orphanet:3467 Hereditary xanthinuria skos:narrowMatch OMIM:278300 Unspecified -Orphanet:3467 Hereditary xanthinuria skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 Unspecified -Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref MedDRA:10003827 Unspecified -Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref UMLS:C0241910 Unspecified -Orphanet:2137 Autoimmune hepatitis skos:exactMatch UMLS:C0241910 Unspecified -Orphanet:2137 Autoimmune hepatitis skos:exactMatch ICD10:K75.4 Unspecified -Orphanet:2137 Autoimmune hepatitis skos:exactMatch MedDRA:10003827 Unspecified -Orphanet:168621 Dysplasia of head of femur, Meyer type oboInOwl:hasDbXref ICD10:Q78.8 Unspecified -Orphanet:168621 Dysplasia of head of femur, Meyer type skos:broadMatch ICD10:Q78.8 Unspecified -Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations oboInOwl:hasDbXref OMIM:603546 Unspecified -Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations oboInOwl:hasDbXref UMLS:C1863732 Unspecified -Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations oboInOwl:hasDbXref MESH:C535784 Unspecified -Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch MESH:C535784 Unspecified -Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch UMLS:C1863732 Unspecified -Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch OMIM:603546 Unspecified -Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref OMIM:598500 Unspecified -Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref OMIM:222300 Unspecified -Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref OMIM:604928 Unspecified -Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref ICD10:E34.8 Unspecified -Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref UMLS:C0043207 Unspecified -Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref MESH:D014929 Unspecified -Orphanet:3463 Wolfram syndrome skos:exactMatch UMLS:C0043207 Unspecified -Orphanet:3463 Wolfram syndrome skos:exactMatch MESH:D014929 Unspecified -Orphanet:3463 Wolfram syndrome skos:broadMatch ICD10:E34.8 Unspecified -Orphanet:3463 Wolfram syndrome skos:narrowMatch OMIM:598500 Unspecified -Orphanet:3463 Wolfram syndrome skos:narrowMatch OMIM:604928 Unspecified -Orphanet:3463 Wolfram syndrome skos:exactMatch OMIM:222300 Unspecified -Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref UMLS:C0019021 Unspecified -Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref MedDRA:10018883 Unspecified -Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref MESH:D006445 Unspecified -Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref ICD10:D58.2 Unspecified -Orphanet:2132 Hemoglobin C disease skos:broadMatch ICD10:D58.2 Unspecified -Orphanet:2132 Hemoglobin C disease skos:exactMatch UMLS:C0019021 Unspecified -Orphanet:2132 Hemoglobin C disease skos:exactMatch MedDRA:10018883 Unspecified -Orphanet:2132 Hemoglobin C disease skos:exactMatch MESH:D006445 Unspecified -Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref OMIM:241080 Unspecified -Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref MESH:C536742 Unspecified -Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref UMLS:C0342286 Unspecified -Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref ICD10:Q87.5 Unspecified -Orphanet:3464 Woodhouse-Sakati syndrome skos:broadMatch ICD10:Q87.5 Unspecified -Orphanet:3464 Woodhouse-Sakati syndrome skos:exactMatch UMLS:C0342286 Unspecified -Orphanet:3464 Woodhouse-Sakati syndrome skos:exactMatch MESH:C536742 Unspecified -Orphanet:3464 Woodhouse-Sakati syndrome skos:exactMatch OMIM:241080 Unspecified -Orphanet:2133 Hemoglobin E disease oboInOwl:hasDbXref ICD10:D58.2 Unspecified -Orphanet:2133 Hemoglobin E disease oboInOwl:hasDbXref UMLS:C0238159 Unspecified -Orphanet:2133 Hemoglobin E disease oboInOwl:hasDbXref MedDRA:10053215 Unspecified -Orphanet:2133 Hemoglobin E disease skos:broadMatch ICD10:D58.2 Unspecified -Orphanet:2133 Hemoglobin E disease skos:exactMatch UMLS:C0238159 Unspecified -Orphanet:2133 Hemoglobin E disease skos:exactMatch MedDRA:10053215 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:615008 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D59.3 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref UMLS:C2931788 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:609814 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612922 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612924 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612926 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:235400 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref MESH:C538266 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612923 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612925 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612925 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612923 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome skos:exactMatch MESH:C538266 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:235400 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome skos:exactMatch UMLS:C2931788 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:615008 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612924 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612922 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612926 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:609814 Unspecified -Orphanet:2134 Atypical hemolytic uremic syndrome skos:broadMatch ICD10:D59.3 Unspecified -Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref ICD10:D61.0 Unspecified -Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref OMIM:194350 Unspecified -Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref UMLS:C1327917 Unspecified -Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref MESH:C536751 Unspecified -Orphanet:3466 WT limb-blood syndrome skos:exactMatch MESH:C536751 Unspecified -Orphanet:3466 WT limb-blood syndrome skos:broadMatch ICD10:D61.0 Unspecified -Orphanet:3466 WT limb-blood syndrome skos:exactMatch UMLS:C1327917 Unspecified -Orphanet:3466 WT limb-blood syndrome skos:exactMatch OMIM:194350 Unspecified -Orphanet:424002 Squamous cell carcinoma of the rectum oboInOwl:hasDbXref UMLS:C1335690 Unspecified -Orphanet:424002 Squamous cell carcinoma of the rectum oboInOwl:hasDbXref ICD10:C20 Unspecified -Orphanet:424002 Squamous cell carcinoma of the rectum skos:exactMatch UMLS:C1335690 Unspecified -Orphanet:424002 Squamous cell carcinoma of the rectum skos:broadMatch ICD10:C20 Unspecified -Orphanet:476084 BVES-related limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIM:616812 Unspecified -Orphanet:476084 BVES-related limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:476084 BVES-related limb-girdle muscular dystrophy skos:exactMatch OMIM:616812 Unspecified -Orphanet:476084 BVES-related limb-girdle muscular dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:604367 Unspecified -Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C1720861 Unspecified -Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:79083 PPARG-related familial partial lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:79083 PPARG-related familial partial lipodystrophy skos:exactMatch UMLS:C1720861 Unspecified -Orphanet:79083 PPARG-related familial partial lipodystrophy skos:exactMatch OMIM:604367 Unspecified -Orphanet:3471 Young syndrome oboInOwl:hasDbXref OMIM:279000 Unspecified -Orphanet:3471 Young syndrome oboInOwl:hasDbXref MedDRA:10063689 Unspecified -Orphanet:3471 Young syndrome oboInOwl:hasDbXref MESH:C536718 Unspecified -Orphanet:3471 Young syndrome oboInOwl:hasDbXref ICD10:N46 Unspecified -Orphanet:3471 Young syndrome oboInOwl:hasDbXref UMLS:C0340037 Unspecified -Orphanet:3471 Young syndrome skos:exactMatch UMLS:C0340037 Unspecified -Orphanet:3471 Young syndrome skos:broadMatch ICD10:N46 Unspecified -Orphanet:3471 Young syndrome skos:exactMatch OMIM:279000 Unspecified -Orphanet:3471 Young syndrome skos:exactMatch MESH:C536718 Unspecified -Orphanet:3471 Young syndrome skos:exactMatch MedDRA:10063689 Unspecified -Orphanet:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:300752 Unspecified -Orphanet:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref UMLS:C2677889 Unspecified -Orphanet:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref ICD10:E80.0 Unspecified -Orphanet:443197 X-linked erythropoietic protoporphyria skos:exactMatch UMLS:C2677889 Unspecified -Orphanet:443197 X-linked erythropoietic protoporphyria skos:broadMatch ICD10:E80.0 Unspecified -Orphanet:443197 X-linked erythropoietic protoporphyria skos:exactMatch OMIM:300752 Unspecified -Orphanet:363396 High myopia-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 Unspecified -Orphanet:363396 High myopia-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:221200 Unspecified -Orphanet:363396 High myopia-sensorineural deafness syndrome skos:exactMatch OMIM:221200 Unspecified -Orphanet:363396 High myopia-sensorineural deafness syndrome skos:broadMatch ICD10:H90.5 Unspecified -Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref UMLS:C0432213 Unspecified -Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref OMIM:271650 Unspecified -Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch UMLS:C0432213 Unspecified -Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch OMIM:271650 Unspecified -Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome oboInOwl:hasDbXref OMIM:619151 Unspecified -Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome skos:exactMatch OMIM:619151 Unspecified -Orphanet:168632 Generalized basaloid follicular hamartoma syndrome oboInOwl:hasDbXref OMIM:605827 Unspecified -Orphanet:168632 Generalized basaloid follicular hamartoma syndrome oboInOwl:hasDbXref UMLS:C1853919 Unspecified -Orphanet:168632 Generalized basaloid follicular hamartoma syndrome oboInOwl:hasDbXref ICD10:Q82.5 Unspecified -Orphanet:168632 Generalized basaloid follicular hamartoma syndrome skos:broadMatch ICD10:Q82.5 Unspecified -Orphanet:168632 Generalized basaloid follicular hamartoma syndrome skos:exactMatch OMIM:605827 Unspecified -Orphanet:168632 Generalized basaloid follicular hamartoma syndrome skos:exactMatch UMLS:C1853919 Unspecified -Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref OMIM:300067 Unspecified -Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref UMLS:C1848199 Unspecified -Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref ICD10:Q04.3 Unspecified -Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation skos:broadMatch ICD10:Q04.3 Unspecified -Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch UMLS:C1848199 Unspecified -Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch OMIM:300067 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:612555 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.1 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.3 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.5 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref UMLS:C0346153 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:604370 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:114480 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.8 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.0 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.2 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.4 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.6 Unspecified -Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:613399 Unspecified -Orphanet:227535 Hereditary breast cancer skos:broadMatch OMIM:613399 Unspecified -Orphanet:227535 Hereditary breast cancer skos:narrowMatch ICD10:C50.4 Unspecified -Orphanet:227535 Hereditary breast cancer skos:narrowMatch ICD10:C50.2 Unspecified -Orphanet:227535 Hereditary breast cancer skos:narrowMatch ICD10:C50.8 Unspecified -Orphanet:227535 Hereditary breast cancer skos:narrowMatch ICD10:C50.6 Unspecified -Orphanet:227535 Hereditary breast cancer skos:narrowMatch ICD10:C50.0 Unspecified -Orphanet:227535 Hereditary breast cancer skos:broadMatch OMIM:604370 Unspecified -Orphanet:227535 Hereditary breast cancer skos:broadMatch OMIM:114480 Unspecified -Orphanet:227535 Hereditary breast cancer skos:exactMatch UMLS:C0346153 Unspecified -Orphanet:227535 Hereditary breast cancer skos:narrowMatch ICD10:C50.3 Unspecified -Orphanet:227535 Hereditary breast cancer skos:narrowMatch ICD10:C50.1 Unspecified -Orphanet:227535 Hereditary breast cancer skos:narrowMatch ICD10:C50.5 Unspecified -Orphanet:227535 Hereditary breast cancer skos:broadMatch OMIM:612555 Unspecified -Orphanet:319234 Venezuelan hemorrhagic fever oboInOwl:hasDbXref UMLS:C0042470 Unspecified -Orphanet:319234 Venezuelan hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 Unspecified -Orphanet:319234 Venezuelan hemorrhagic fever skos:exactMatch UMLS:C0042470 Unspecified -Orphanet:319234 Venezuelan hemorrhagic fever skos:broadMatch ICD10:A96.8 Unspecified -Orphanet:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 Unspecified -Orphanet:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref UMLS:C0343633 Unspecified -Orphanet:319239 Brazilian hemorrhagic fever skos:exactMatch UMLS:C0343633 Unspecified -Orphanet:319239 Brazilian hemorrhagic fever skos:broadMatch ICD10:A96.8 Unspecified -Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref OMIM:602557 Unspecified -Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref UMLS:C1865185 Unspecified -Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch UMLS:C1865185 Unspecified -Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch OMIM:602557 Unspecified -Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref UMLS:C0432243 Unspecified -Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref OMIM:271640 Unspecified -Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref OMIM:618395 Unspecified -Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity skos:narrowMatch OMIM:618395 Unspecified -Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch OMIM:271640 Unspecified -Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch UMLS:C0432243 Unspecified -Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oboInOwl:hasDbXref UMLS:C1849011 Unspecified -Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oboInOwl:hasDbXref OMIM:271665 Unspecified -Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch OMIM:271665 Unspecified -Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch UMLS:C1849011 Unspecified -Orphanet:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref UMLS:C1300260 Unspecified -Orphanet:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref OMIM:271510 Unspecified -Orphanet:93357 SPONASTRIME dysplasia skos:exactMatch UMLS:C1300260 Unspecified -Orphanet:93357 SPONASTRIME dysplasia skos:exactMatch OMIM:271510 Unspecified -Orphanet:93357 SPONASTRIME dysplasia skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref UMLS:C1865832 Unspecified -Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref OMIM:602111 Unspecified -Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch OMIM:602111 Unspecified -Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch UMLS:C1865832 Unspecified -Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref MedDRA:10011796 Unspecified -Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref UMLS:C0282488 Unspecified -Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref UMLS:C0600040 Unspecified -Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref ICD10:N30.1 Unspecified -Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref MESH:D018856 Unspecified -Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref UMLS:C3160917 Unspecified -Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref UMLS:C1720830 Unspecified -Orphanet:37202 Interstitial cystitis skos:exactMatch UMLS:C3160917 Unspecified -Orphanet:37202 Interstitial cystitis skos:exactMatch UMLS:C1720830 Unspecified -Orphanet:37202 Interstitial cystitis skos:exactMatch ICD10:N30.1 Unspecified -Orphanet:37202 Interstitial cystitis skos:exactMatch MESH:D018856 Unspecified -Orphanet:37202 Interstitial cystitis skos:exactMatch MedDRA:10011796 Unspecified -Orphanet:37202 Interstitial cystitis skos:exactMatch UMLS:C0282488 Unspecified -Orphanet:37202 Interstitial cystitis skos:exactMatch UMLS:C0600040 Unspecified -Orphanet:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref OMIM:618397 Unspecified -Orphanet:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:565624 Combined oxidative phosphorylation defect type 39 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:565624 Combined oxidative phosphorylation defect type 39 skos:exactMatch OMIM:618397 Unspecified -Orphanet:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref MedDRA:10005932 Unspecified -Orphanet:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.1 Unspecified -Orphanet:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref UMLS:C0282192 Unspecified -Orphanet:319229 Bolivian hemorrhagic fever skos:exactMatch ICD10:A96.1 Unspecified -Orphanet:319229 Bolivian hemorrhagic fever skos:exactMatch UMLS:C0282192 Unspecified -Orphanet:319229 Bolivian hemorrhagic fever skos:exactMatch MedDRA:10005932 Unspecified -Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref MESH:C538321 Unspecified -Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref UMLS:C0268642 Unspecified -Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref ICD10:E70.8 Unspecified -Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref OMIM:235830 Unspecified -Orphanet:2158 Histidinuria-renal tubular defect syndrome skos:exactMatch OMIM:235830 Unspecified -Orphanet:2158 Histidinuria-renal tubular defect syndrome skos:broadMatch ICD10:E70.8 Unspecified -Orphanet:2158 Histidinuria-renal tubular defect syndrome skos:exactMatch UMLS:C0268642 Unspecified -Orphanet:2158 Histidinuria-renal tubular defect syndrome skos:exactMatch MESH:C538321 Unspecified -Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma oboInOwl:hasDbXref ICD10:C16.2 Unspecified -Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma oboInOwl:hasDbXref ICD10:C16.0 Unspecified -Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma skos:broadMatch ICD10:C16.0 Unspecified -Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma skos:broadMatch ICD10:C16.2 Unspecified -Orphanet:319223 Argentine hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019097 Unspecified -Orphanet:319223 Argentine hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.0 Unspecified -Orphanet:319223 Argentine hemorrhagic fever skos:exactMatch UMLS:C0019097 Unspecified -Orphanet:319223 Argentine hemorrhagic fever skos:exactMatch ICD10:A96.0 Unspecified -Orphanet:398109 Neonatal autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.1 Unspecified -Orphanet:398109 Neonatal autoimmune hemolytic anemia skos:broadMatch ICD10:D59.1 Unspecified -Orphanet:2157 Histidinemia oboInOwl:hasDbXref OMIM:235800 Unspecified -Orphanet:2157 Histidinemia oboInOwl:hasDbXref UMLS:C0220992 Unspecified -Orphanet:2157 Histidinemia oboInOwl:hasDbXref UMLS:C0268642 Unspecified -Orphanet:2157 Histidinemia oboInOwl:hasDbXref ICD10:E70.8 Unspecified -Orphanet:2157 Histidinemia oboInOwl:hasDbXref MESH:C538320 Unspecified -Orphanet:2157 Histidinemia skos:exactMatch MESH:C538320 Unspecified -Orphanet:2157 Histidinemia skos:exactMatch UMLS:C0268642 Unspecified -Orphanet:2157 Histidinemia skos:broadMatch ICD10:E70.8 Unspecified -Orphanet:2157 Histidinemia skos:exactMatch OMIM:235800 Unspecified -Orphanet:2157 Histidinemia skos:exactMatch UMLS:C0220992 Unspecified -Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref MESH:C538256 Unspecified -Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref OMIM:607095 Unspecified -Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref UMLS:C1846796 Unspecified -Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref OMIM:618853 Unspecified -Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref OMIM:617396 Unspecified -Orphanet:93347 Anauxetic dysplasia skos:exactMatch OMIM:617396 Unspecified -Orphanet:93347 Anauxetic dysplasia skos:exactMatch MESH:C538256 Unspecified -Orphanet:93347 Anauxetic dysplasia skos:exactMatch OMIM:607095 Unspecified -Orphanet:93347 Anauxetic dysplasia skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93347 Anauxetic dysplasia skos:exactMatch UMLS:C1846796 Unspecified -Orphanet:93347 Anauxetic dysplasia skos:exactMatch OMIM:618853 Unspecified -Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref UMLS:C0700635 Unspecified -Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref OMIM:184250 Unspecified -Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type skos:exactMatch OMIM:184250 Unspecified -Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type skos:exactMatch UMLS:C0700635 Unspecified -Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref OMIM:300106 Unspecified -Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1848097 Unspecified -Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch UMLS:C1848097 Unspecified -Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch OMIM:300106 Unspecified -Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref OMIM:619220 Unspecified -Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:exactMatch OMIM:619220 Unspecified -Orphanet:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref OMIM:614860 Unspecified -Orphanet:420492 Adult-onset cervical dystonia, DYT23 type skos:exactMatch OMIM:614860 Unspecified -Orphanet:420492 Adult-onset cervical dystonia, DYT23 type skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:363494 Non-seminomatous germ cell tumor of testis oboInOwl:hasDbXref ICD10:C62.1 Unspecified -Orphanet:363494 Non-seminomatous germ cell tumor of testis oboInOwl:hasDbXref OMIM:273300 Unspecified -Orphanet:363494 Non-seminomatous germ cell tumor of testis skos:broadMatch OMIM:273300 Unspecified -Orphanet:363494 Non-seminomatous germ cell tumor of testis skos:broadMatch ICD10:C62.1 Unspecified -Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref ICD10:M93.9 Unspecified -Orphanet:399329 Epiphysiolysis of the hip skos:broadMatch ICD10:M93.9 Unspecified -Orphanet:569248 Microcystic stromal tumor oboInOwl:hasDbXref ICD10:D27 Unspecified -Orphanet:569248 Microcystic stromal tumor skos:broadMatch ICD10:D27 Unspecified -Orphanet:431149 Combined immunodeficiency due to OX40 deficiency oboInOwl:hasDbXref OMIM:615593 Unspecified -Orphanet:431149 Combined immunodeficiency due to OX40 deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:431149 Combined immunodeficiency due to OX40 deficiency skos:exactMatch OMIM:615593 Unspecified -Orphanet:431149 Combined immunodeficiency due to OX40 deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:363489 Sex cord-stromal tumor of testis oboInOwl:hasDbXref ICD10:D40.1 Unspecified -Orphanet:363489 Sex cord-stromal tumor of testis oboInOwl:hasDbXref ICD10:C62.1 Unspecified -Orphanet:363489 Sex cord-stromal tumor of testis skos:narrowMatch ICD10:D40.1 Unspecified -Orphanet:363489 Sex cord-stromal tumor of testis skos:narrowMatch ICD10:C62.1 Unspecified -Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref UMLS:C0238451 Unspecified -Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref OMIM:273300 Unspecified -Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref ICD10:C62.9 Unspecified -Orphanet:363483 Testicular teratoma skos:broadMatch OMIM:273300 Unspecified -Orphanet:363483 Testicular teratoma skos:broadMatch ICD10:C62.9 Unspecified -Orphanet:363483 Testicular teratoma skos:exactMatch UMLS:C0238451 Unspecified -Orphanet:180267 Giant adenofibroma of the breast oboInOwl:hasDbXref ICD10:D24 Unspecified -Orphanet:180267 Giant adenofibroma of the breast skos:broadMatch ICD10:D24 Unspecified -Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement oboInOwl:hasDbXref OMIM:615034 Unspecified -Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement skos:exactMatch OMIM:615034 Unspecified -Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref OMIM:612949 Unspecified -Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination skos:exactMatch OMIM:612949 Unspecified -Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref ICD10:D48.6 Unspecified -Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref UMLS:C0010701 Unspecified -Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref MESH:D003557 Unspecified -Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref MedDRA:10011813 Unspecified -Orphanet:180261 Phyllodes tumor of the breast skos:exactMatch MedDRA:10011813 Unspecified -Orphanet:180261 Phyllodes tumor of the breast skos:exactMatch UMLS:C0010701 Unspecified -Orphanet:180261 Phyllodes tumor of the breast skos:exactMatch MESH:D003557 Unspecified -Orphanet:180261 Phyllodes tumor of the breast skos:broadMatch ICD10:D48.6 Unspecified -Orphanet:247165 Infantile mercury poisoning oboInOwl:hasDbXref ICD10:T56.1 Unspecified -Orphanet:247165 Infantile mercury poisoning skos:broadMatch ICD10:T56.1 Unspecified -Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.8 Unspecified -Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.0 Unspecified -Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.2 Unspecified -Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.7 Unspecified -Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.1 Unspecified -Orphanet:363478 Paratesticular adenocarcinoma skos:narrowMatch ICD10:C63.7 Unspecified -Orphanet:363478 Paratesticular adenocarcinoma skos:narrowMatch ICD10:C63.1 Unspecified -Orphanet:363478 Paratesticular adenocarcinoma skos:narrowMatch ICD10:C63.8 Unspecified -Orphanet:363478 Paratesticular adenocarcinoma skos:narrowMatch ICD10:C63.0 Unspecified -Orphanet:363478 Paratesticular adenocarcinoma skos:narrowMatch ICD10:C63.2 Unspecified -Orphanet:319319 Renal medullary carcinoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:319319 Renal medullary carcinoma oboInOwl:hasDbXref MedDRA:10064886 Unspecified -Orphanet:319319 Renal medullary carcinoma skos:exactMatch MedDRA:10064886 Unspecified -Orphanet:319319 Renal medullary carcinoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:79085 AKT2-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:79085 AKT2-related familial partial lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production oboInOwl:hasDbXref ICD10:C83.0 Unspecified -Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production skos:broadMatch ICD10:C83.0 Unspecified -Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref UMLS:C1720859 Unspecified -Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref OMIM:608600 Unspecified -Orphanet:79084 Familial partial lipodystrophy, Köbberling type skos:exactMatch UMLS:C1720859 Unspecified -Orphanet:79084 Familial partial lipodystrophy, Köbberling type skos:exactMatch OMIM:608600 Unspecified -Orphanet:79084 Familial partial lipodystrophy, Köbberling type skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref UMLS:C0220989 Unspecified -Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref OMIM:608709 Unspecified -Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:79087 Acquired partial lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:79087 Acquired partial lipodystrophy skos:exactMatch UMLS:C0220989 Unspecified -Orphanet:79087 Acquired partial lipodystrophy skos:exactMatch OMIM:608709 Unspecified -Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref UMLS:C3665770 Unspecified -Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref UMLS:C0271693 Unspecified -Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:79086 Acquired generalized lipodystrophy skos:exactMatch UMLS:C0271693 Unspecified -Orphanet:79086 Acquired generalized lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:79086 Acquired generalized lipodystrophy skos:exactMatch UMLS:C3665770 Unspecified -Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref MESH:D010144 Unspecified -Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref UMLS:C0030185 Unspecified -Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref ICD10:C50.0 Unspecified -Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref MedDRA:10033367 Unspecified -Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref UMLS:C1704323 Unspecified -Orphanet:180275 Paget disease of the nipple skos:exactMatch MedDRA:10033367 Unspecified -Orphanet:180275 Paget disease of the nipple skos:exactMatch UMLS:C1704323 Unspecified -Orphanet:180275 Paget disease of the nipple skos:broadMatch ICD10:C50.0 Unspecified -Orphanet:180275 Paget disease of the nipple skos:exactMatch UMLS:C0030185 Unspecified -Orphanet:180275 Paget disease of the nipple skos:exactMatch MESH:D010144 Unspecified -Orphanet:93398 Genochondromatosis type 2 oboInOwl:hasDbXref OMIM:137360 Unspecified -Orphanet:93398 Genochondromatosis type 2 oboInOwl:hasDbXref ICD10:Q78.4 Unspecified -Orphanet:93398 Genochondromatosis type 2 skos:broadMatch ICD10:Q78.4 Unspecified -Orphanet:93398 Genochondromatosis type 2 skos:broadMatch OMIM:137360 Unspecified -Orphanet:163703 Febrile infection-related epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.5 Unspecified -Orphanet:163703 Febrile infection-related epilepsy syndrome skos:broadMatch ICD10:G40.5 Unspecified -Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref OMIM:605637 Unspecified -Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:broadMatch OMIM:605637 Unspecified -Orphanet:163708 Cryptogenic late-onset epileptic spasms oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:163708 Cryptogenic late-onset epileptic spasms skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref UMLS:C1866039 Unspecified -Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref OMIM:613855 Unspecified -Orphanet:211067 Episodic ataxia type 5 skos:exactMatch OMIM:613855 Unspecified -Orphanet:211067 Episodic ataxia type 5 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:211067 Episodic ataxia type 5 skos:exactMatch UMLS:C1866039 Unspecified -Orphanet:319308 MiT family translocation renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:319308 MiT family translocation renal cell carcinoma oboInOwl:hasDbXref OMIM:300854 Unspecified -Orphanet:319308 MiT family translocation renal cell carcinoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:319308 MiT family translocation renal cell carcinoma skos:narrowMatch OMIM:300854 Unspecified -Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref ICD10:E78.3 Unspecified -Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:615947 Unspecified -Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:207750 Unspecified -Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:238600 Unspecified -Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:118830 Unspecified -Orphanet:444490 Familial chylomicronemia syndrome skos:narrowMatch OMIM:207750 Unspecified -Orphanet:444490 Familial chylomicronemia syndrome skos:narrowMatch OMIM:238600 Unspecified -Orphanet:444490 Familial chylomicronemia syndrome skos:narrowMatch OMIM:118830 Unspecified -Orphanet:444490 Familial chylomicronemia syndrome skos:narrowMatch OMIM:615947 Unspecified -Orphanet:444490 Familial chylomicronemia syndrome skos:broadMatch ICD10:E78.3 Unspecified -Orphanet:261476 Xp21 deletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 Unspecified -Orphanet:261476 Xp21 deletion syndrome oboInOwl:hasDbXref OMIM:300679 Unspecified -Orphanet:261476 Xp21 deletion syndrome skos:exactMatch OMIM:300679 Unspecified -Orphanet:261476 Xp21 deletion syndrome skos:broadMatch ICD10:Q99.8 Unspecified -Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref ICD10:G40.8 Unspecified -Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref OMIM:610090 Unspecified -Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref UMLS:C1864723 Unspecified -Orphanet:79096 Pyridoxal phosphate-responsive seizures skos:exactMatch UMLS:C1864723 Unspecified -Orphanet:79096 Pyridoxal phosphate-responsive seizures skos:broadMatch ICD10:G40.8 Unspecified -Orphanet:79096 Pyridoxal phosphate-responsive seizures skos:exactMatch OMIM:610090 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref MESH:C535444 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref ICD10:K76.8 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref UMLS:C1858328 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref OMIM:214950 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref UMLS:C3280428 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref OMIM:614307 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 skos:exactMatch UMLS:C3280428 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 skos:exactMatch OMIM:214950 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 skos:broadMatch ICD10:K76.8 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 skos:exactMatch UMLS:C1858328 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 skos:exactMatch MESH:C535444 Unspecified -Orphanet:79095 Congenital bile acid synthesis defect type 4 skos:narrowMatch OMIM:614307 Unspecified -Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref MedDRA:10042742 Unspecified -Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref UMLS:C0029077 Unspecified -Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref MESH:D009879 Unspecified -Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref ICD10:H44.1 Unspecified -Orphanet:79098 Sympathetic ophthalmia skos:exactMatch MESH:D009879 Unspecified -Orphanet:79098 Sympathetic ophthalmia skos:broadMatch ICD10:H44.1 Unspecified -Orphanet:79098 Sympathetic ophthalmia skos:exactMatch MedDRA:10042742 Unspecified -Orphanet:79098 Sympathetic ophthalmia skos:exactMatch UMLS:C0029077 Unspecified -Orphanet:92050 Congenital tufting enteropathy oboInOwl:hasDbXref ICD10:P78.3 Unspecified -Orphanet:92050 Congenital tufting enteropathy oboInOwl:hasDbXref OMIM:613217 Unspecified -Orphanet:92050 Congenital tufting enteropathy skos:exactMatch OMIM:613217 Unspecified -Orphanet:92050 Congenital tufting enteropathy skos:broadMatch ICD10:P78.3 Unspecified -Orphanet:79097 Folinic acid-responsive seizures oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:79097 Folinic acid-responsive seizures skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:319303 Chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS:C1266042 Unspecified -Orphanet:319303 Chromophobe renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:319303 Chromophobe renal cell carcinoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:319303 Chromophobe renal cell carcinoma skos:exactMatch UMLS:C1266042 Unspecified -Orphanet:443167 NUT midline carcinoma oboInOwl:hasDbXref ICD10:C80.9 Unspecified -Orphanet:443167 NUT midline carcinoma skos:broadMatch ICD10:C80.9 Unspecified -Orphanet:79099 Interstitial granulomatous dermatitis with arthritis oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:79099 Interstitial granulomatous dermatitis with arthritis skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:615697 Unspecified -Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.0 Unspecified -Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:614417 Unspecified -Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:611630 Unspecified -Orphanet:163717 Benign familial mesial temporal lobe epilepsy skos:narrowMatch OMIM:615697 Unspecified -Orphanet:163717 Benign familial mesial temporal lobe epilepsy skos:broadMatch ICD10:G40.0 Unspecified -Orphanet:163717 Benign familial mesial temporal lobe epilepsy skos:narrowMatch OMIM:614417 Unspecified -Orphanet:163717 Benign familial mesial temporal lobe epilepsy skos:narrowMatch OMIM:611630 Unspecified -Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 oboInOwl:hasDbXref OMIM:617954 Unspecified -Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 skos:exactMatch OMIM:617954 Unspecified -Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref ICD10:D58.8 Unspecified -Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref UMLS:C1837206 Unspecified -Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref OMIM:608885 Unspecified -Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin skos:exactMatch UMLS:C1837206 Unspecified -Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin skos:exactMatch OMIM:608885 Unspecified -Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin skos:broadMatch ICD10:D58.8 Unspecified -Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref UMLS:C0162569 Unspecified -Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref UMLS:C0268324 Unspecified -Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref OMIM:176100 Unspecified -Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref MESH:D017121 Unspecified -Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.2 Unspecified -Orphanet:95159 Hepatoerythropoietic porphyria skos:broadMatch OMIM:176100 Unspecified -Orphanet:95159 Hepatoerythropoietic porphyria skos:exactMatch UMLS:C0268324 Unspecified -Orphanet:95159 Hepatoerythropoietic porphyria skos:broadMatch ICD10:E80.2 Unspecified -Orphanet:95159 Hepatoerythropoietic porphyria skos:exactMatch UMLS:C0162569 Unspecified -Orphanet:95159 Hepatoerythropoietic porphyria skos:exactMatch MESH:D017121 Unspecified -Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref OMIM:616033 Unspecified -Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref OMIM:616817 Unspecified -Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:narrowMatch OMIM:616817 Unspecified -Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:narrowMatch OMIM:616033 Unspecified -Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref OMIM:615851 Unspecified -Orphanet:247198 Progressive cerebello-cerebral atrophy skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:247198 Progressive cerebello-cerebral atrophy skos:narrowMatch OMIM:615851 Unspecified -Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref OMIM:615528 Unspecified -Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref ICD10:G20 Unspecified -Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref OMIM:615530 Unspecified -Orphanet:391411 Atypical juvenile parkinsonism skos:narrowMatch OMIM:615528 Unspecified -Orphanet:391411 Atypical juvenile parkinsonism skos:broadMatch ICD10:G20 Unspecified -Orphanet:391411 Atypical juvenile parkinsonism skos:narrowMatch OMIM:615530 Unspecified -Orphanet:466682 Euthyroid Graves orbitopathy oboInOwl:hasDbXref ICD10:H05.2 Unspecified -Orphanet:466682 Euthyroid Graves orbitopathy skos:broadMatch ICD10:H05.2 Unspecified -Orphanet:180229 Polyembryoma oboInOwl:hasDbXref ICD10:C80.9 Unspecified -Orphanet:180229 Polyembryoma oboInOwl:hasDbXref UMLS:C0334518 Unspecified -Orphanet:180229 Polyembryoma skos:exactMatch UMLS:C0334518 Unspecified -Orphanet:180229 Polyembryoma skos:broadMatch ICD10:C80.9 Unspecified -Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref ICD10:C22.7 Unspecified -Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref MESH:D018236 Unspecified -Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref UMLS:C0206659 Unspecified -Orphanet:180226 Embryonal carcinoma skos:exactMatch UMLS:C0206659 Unspecified -Orphanet:180226 Embryonal carcinoma skos:exactMatch MESH:D018236 Unspecified -Orphanet:180226 Embryonal carcinoma skos:narrowMatch ICD10:C22.7 Unspecified -Orphanet:180226 Embryonal carcinoma skos:narrowMatch ICD10:C71.9 Unspecified -Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome oboInOwl:hasDbXref ICD10:E23.3 Unspecified -Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome skos:broadMatch ICD10:E23.3 Unspecified -Orphanet:391417 HSD10 disease oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:391417 HSD10 disease oboInOwl:hasDbXref UMLS:C1845517 Unspecified -Orphanet:391417 HSD10 disease oboInOwl:hasDbXref OMIM:300438 Unspecified -Orphanet:391417 HSD10 disease skos:exactMatch UMLS:C1845517 Unspecified -Orphanet:391417 HSD10 disease skos:exactMatch OMIM:300438 Unspecified -Orphanet:391417 HSD10 disease skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref OMIM:616488 Unspecified -Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 skos:exactMatch OMIM:616488 Unspecified -Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:615290 Unspecified -Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1834690 Unspecified -Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 Unspecified -Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:158600 Unspecified -Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:615290 Unspecified -Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch UMLS:C1834690 Unspecified -Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy skos:broadMatch ICD10:G12.1 Unspecified -Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:158600 Unspecified -Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion oboInOwl:hasDbXref ICD10:C74.0 Unspecified -Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion oboInOwl:hasDbXref ICD10:E26.0 Unspecified -Orphanet:563991 Osteochondrosis of the tarsal bone oboInOwl:hasDbXref ICD10:M92.6 Unspecified -Orphanet:563991 Osteochondrosis of the tarsal bone skos:exactMatch ICD10:M92.6 Unspecified -Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome oboInOwl:hasDbXref ICD10:K75.4 Unspecified -Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:broadMatch ICD10:K75.4 Unspecified -Orphanet:231632 Ectopic aldosterone-producing tumor oboInOwl:hasDbXref ICD10:E26.8 Unspecified -Orphanet:231632 Ectopic aldosterone-producing tumor skos:broadMatch ICD10:E26.8 Unspecified -Orphanet:180234 Mixed germ cell tumor oboInOwl:hasDbXref UMLS:C0334524 Unspecified -Orphanet:180234 Mixed germ cell tumor oboInOwl:hasDbXref ICD10:C80.9 Unspecified -Orphanet:180234 Mixed germ cell tumor skos:broadMatch ICD10:C80.9 Unspecified -Orphanet:180234 Mixed germ cell tumor skos:exactMatch UMLS:C0334524 Unspecified -Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref UMLS:C0346190 Unspecified -Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref ICD10:D28.2 Unspecified -Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref MedDRA:10053865 Unspecified -Orphanet:180237 Benign tumor of fallopian tubes skos:exactMatch UMLS:C0346190 Unspecified -Orphanet:180237 Benign tumor of fallopian tubes skos:exactMatch MedDRA:10053865 Unspecified -Orphanet:180237 Benign tumor of fallopian tubes skos:broadMatch ICD10:D28.2 Unspecified -Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency oboInOwl:hasDbXref UMLS:C0268621 Unspecified -Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency oboInOwl:hasDbXref OMIM:250850 Unspecified -Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency oboInOwl:hasDbXref ICD10:E72.1 Unspecified -Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency skos:exactMatch OMIM:250850 Unspecified -Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency skos:broadMatch ICD10:E72.1 Unspecified -Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency skos:exactMatch UMLS:C0268621 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.1 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.9 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref UMLS:C0238348 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.0 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.8 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis skos:exactMatch UMLS:C0238348 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis skos:broadMatch ICD10:C60.9 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis skos:broadMatch ICD10:C60.1 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis skos:broadMatch ICD10:C60.8 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis skos:broadMatch ICD10:C60.2 Unspecified -Orphanet:398058 Squamous cell carcinoma of the penis skos:broadMatch ICD10:C60.0 Unspecified -Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 Unspecified -Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 Unspecified -Orphanet:281090 Syndromic recessive X-linked ichthyosis skos:broadMatch ICD10:Q80.1 Unspecified -Orphanet:281090 Syndromic recessive X-linked ichthyosis skos:broadMatch OMIM:308100 Unspecified -Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref UMLS:C0025221 Unspecified -Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref OMIM:248300 Unspecified -Orphanet:87503 Mal de Meleda skos:exactMatch UMLS:C0025221 Unspecified -Orphanet:87503 Mal de Meleda skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:87503 Mal de Meleda skos:exactMatch OMIM:248300 Unspecified -Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.0 Unspecified -Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 Unspecified -Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.8 Unspecified -Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.1 Unspecified -Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.9 Unspecified -Orphanet:398053 Adenocarcinoma of the penis skos:broadMatch ICD10:C60.1 Unspecified -Orphanet:398053 Adenocarcinoma of the penis skos:broadMatch ICD10:C60.9 Unspecified -Orphanet:398053 Adenocarcinoma of the penis skos:broadMatch ICD10:C60.2 Unspecified -Orphanet:398053 Adenocarcinoma of the penis skos:broadMatch ICD10:C60.0 Unspecified -Orphanet:398053 Adenocarcinoma of the penis skos:broadMatch ICD10:C60.8 Unspecified -Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref OMIM:616669 Unspecified -Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref OMIM:616636 Unspecified -Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch OMIM:616669 Unspecified -Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch OMIM:616636 Unspecified -Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref MESH:D008654 Unspecified -Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref UMLS:C0025500 Unspecified -Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref OMIM:156240 Unspecified -Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref MedDRA:10027406 Unspecified -Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref UMLS:C0812413 Unspecified -Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref UMLS:C1377913 Unspecified -Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref ICD10:C45.0 Unspecified -Orphanet:50251 Pleural mesothelioma skos:exactMatch MedDRA:10027406 Unspecified -Orphanet:50251 Pleural mesothelioma skos:exactMatch UMLS:C0812413 Unspecified -Orphanet:50251 Pleural mesothelioma skos:exactMatch UMLS:C1377913 Unspecified -Orphanet:50251 Pleural mesothelioma skos:exactMatch ICD10:C45.0 Unspecified -Orphanet:50251 Pleural mesothelioma skos:exactMatch UMLS:C0025500 Unspecified -Orphanet:50251 Pleural mesothelioma skos:exactMatch MESH:D008654 Unspecified -Orphanet:50251 Pleural mesothelioma skos:exactMatch OMIM:156240 Unspecified -Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref OMIM:616239 Unspecified -Orphanet:444458 Combined oxidative phosphorylation defect type 24 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:444458 Combined oxidative phosphorylation defect type 24 skos:exactMatch OMIM:616239 Unspecified -Orphanet:180247 Vaginal carcinoma oboInOwl:hasDbXref UMLS:C0262659 Unspecified -Orphanet:180247 Vaginal carcinoma oboInOwl:hasDbXref ICD10:C52 Unspecified -Orphanet:180247 Vaginal carcinoma skos:broadMatch ICD10:C52 Unspecified -Orphanet:180247 Vaginal carcinoma skos:exactMatch UMLS:C0262659 Unspecified -Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref UMLS:C0153579 Unspecified -Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref UMLS:C0238122 Unspecified -Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref ICD10:C57.0 Unspecified -Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref MedDRA:10025915 Unspecified -Orphanet:180242 Malignant tumor of fallopian tubes skos:exactMatch ICD10:C57.0 Unspecified -Orphanet:180242 Malignant tumor of fallopian tubes skos:exactMatch UMLS:C0153579 Unspecified -Orphanet:180242 Malignant tumor of fallopian tubes skos:exactMatch MedDRA:10025915 Unspecified -Orphanet:180242 Malignant tumor of fallopian tubes skos:exactMatch UMLS:C0238122 Unspecified -Orphanet:42642 PFAPA syndrome oboInOwl:hasDbXref ICD10:E85.0 Unspecified -Orphanet:42642 PFAPA syndrome oboInOwl:hasDbXref UMLS:C2938935 Unspecified -Orphanet:42642 PFAPA syndrome skos:broadMatch ICD10:E85.0 Unspecified -Orphanet:42642 PFAPA syndrome skos:exactMatch UMLS:C2938935 Unspecified -Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref OMIM:615547 Unspecified -Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome skos:broadMatch ICD10:Q87.1 Unspecified -Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome skos:exactMatch OMIM:615547 Unspecified -Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome oboInOwl:hasDbXref OMIM:614831 Unspecified -Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome oboInOwl:hasDbXref OMIM:616204 Unspecified -Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome skos:narrowMatch OMIM:616204 Unspecified -Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome skos:narrowMatch OMIM:614831 Unspecified -Orphanet:398063 Refractory celiac disease oboInOwl:hasDbXref ICD10:K90.0 Unspecified -Orphanet:398063 Refractory celiac disease skos:broadMatch ICD10:K90.0 Unspecified -Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 oboInOwl:hasDbXref OMIM:615330 Unspecified -Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 skos:exactMatch OMIM:615330 Unspecified -Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref UMLS:C2936793 Unspecified -Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref MESH:C537206 Unspecified -Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref OMIM:613371 Unspecified -Orphanet:211017 Spinocerebellar ataxia type 30 skos:exactMatch MESH:C537206 Unspecified -Orphanet:211017 Spinocerebellar ataxia type 30 skos:exactMatch UMLS:C2936793 Unspecified -Orphanet:211017 Spinocerebellar ataxia type 30 skos:exactMatch OMIM:613371 Unspecified -Orphanet:211017 Spinocerebellar ataxia type 30 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref UMLS:C0393847 Unspecified -Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref ICD10:G61.8 Unspecified -Orphanet:641 Multifocal motor neuropathy skos:broadMatch ICD10:G61.8 Unspecified -Orphanet:641 Multifocal motor neuropathy skos:exactMatch UMLS:C0393847 Unspecified -Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref OMIM:165800 Unspecified -Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93.2 Unspecified -Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref UMLS:C3665488 Unspecified -Orphanet:251262 Familial osteochondritis dissecans skos:exactMatch OMIM:165800 Unspecified -Orphanet:251262 Familial osteochondritis dissecans skos:exactMatch UMLS:C3665488 Unspecified -Orphanet:251262 Familial osteochondritis dissecans skos:broadMatch ICD10:M93.2 Unspecified -Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref MESH:D056768 Unspecified -Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref OMIM:256850 Unspecified -Orphanet:643 Giant axonal neuropathy skos:exactMatch OMIM:256850 Unspecified -Orphanet:643 Giant axonal neuropathy skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:643 Giant axonal neuropathy skos:exactMatch MESH:D056768 Unspecified -Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:614881 Unspecified -Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:619216 Unspecified -Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:314485 Young adult-onset distal hereditary motor neuropathy skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:314485 Young adult-onset distal hereditary motor neuropathy skos:narrowMatch OMIM:619216 Unspecified -Orphanet:314485 Young adult-onset distal hereditary motor neuropathy skos:narrowMatch OMIM:614881 Unspecified -Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity oboInOwl:hasDbXref OMIM:615281 Unspecified -Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:exactMatch OMIM:615281 Unspecified -Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref OMIM:256800 Unspecified -Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref UMLS:C0020074 Unspecified -Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 skos:exactMatch OMIM:256800 Unspecified -Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 skos:exactMatch UMLS:C0020074 Unspecified -Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref ICD10:T88.3 Unspecified -Orphanet:466650 Exercise-induced malignant hyperthermia skos:broadMatch ICD10:T88.3 Unspecified -Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInOwl:hasDbXref OMIM:615401 Unspecified -Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInOwl:hasDbXref ICD10:D81.2 Unspecified -Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency skos:broadMatch ICD10:D81.2 Unspecified -Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch OMIM:615401 Unspecified -Orphanet:644 NARP syndrome oboInOwl:hasDbXref MedDRA:10062940 Unspecified -Orphanet:644 NARP syndrome oboInOwl:hasDbXref UMLS:C1328349 Unspecified -Orphanet:644 NARP syndrome oboInOwl:hasDbXref OMIM:551500 Unspecified -Orphanet:644 NARP syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:644 NARP syndrome skos:exactMatch MedDRA:10062940 Unspecified -Orphanet:644 NARP syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:644 NARP syndrome skos:exactMatch OMIM:551500 Unspecified -Orphanet:644 NARP syndrome skos:exactMatch UMLS:C1328349 Unspecified -Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref UMLS:C0220756 Unspecified -Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref OMIM:607625 Unspecified -Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref MESH:D052556 Unspecified -Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref OMIM:257220 Unspecified -Orphanet:646 Niemann-Pick disease type C skos:exactMatch OMIM:257220 Unspecified -Orphanet:646 Niemann-Pick disease type C skos:exactMatch UMLS:C0220756 Unspecified -Orphanet:646 Niemann-Pick disease type C skos:narrowMatch OMIM:607625 Unspecified -Orphanet:646 Niemann-Pick disease type C skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:646 Niemann-Pick disease type C skos:exactMatch MESH:D052556 Unspecified -Orphanet:66627 Tenosynovial giant cell tumor oboInOwl:hasDbXref UMLS:C0039106 Unspecified -Orphanet:66627 Tenosynovial giant cell tumor oboInOwl:hasDbXref ICD10:M12.2 Unspecified -Orphanet:66627 Tenosynovial giant cell tumor oboInOwl:hasDbXref MESH:D013586 Unspecified -Orphanet:66627 Tenosynovial giant cell tumor skos:exactMatch MESH:D013586 Unspecified -Orphanet:66627 Tenosynovial giant cell tumor skos:exactMatch UMLS:C0039106 Unspecified -Orphanet:66627 Tenosynovial giant cell tumor skos:exactMatch ICD10:M12.2 Unspecified -Orphanet:398079 SIM1-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:398079 SIM1-related Prader-Willi-like syndrome skos:broadMatch ICD10:Q87.1 Unspecified -Orphanet:66624 PANDAS oboInOwl:hasDbXref ICD10:G96.8 Unspecified -Orphanet:66624 PANDAS skos:broadMatch ICD10:G96.8 Unspecified -Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref UMLS:C0149951 Unspecified -Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref ICD10:D27 Unspecified -Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref MedDRA:10064257 Unspecified -Orphanet:314473 Ovarian fibroma skos:exactMatch UMLS:C0149951 Unspecified -Orphanet:314473 Ovarian fibroma skos:broadMatch ICD10:D27 Unspecified -Orphanet:314473 Ovarian fibroma skos:exactMatch MedDRA:10064257 Unspecified -Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:hasDbXref OMIM:615924 Unspecified -Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy skos:exactMatch OMIM:615924 Unspecified -Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome oboInOwl:hasDbXref OMIM:606346 Unspecified -Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:H90.3 Unspecified -Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:broadMatch OMIM:606346 Unspecified -Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:broadMatch ICD10:H90.3 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:262400 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:307200 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref UMLS:C0271561 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref UMLS:C0013338 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:173100 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref ICD10:E23.0 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:262650 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref MedDRA:10035083 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:300123 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:612781 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency skos:exactMatch MedDRA:10035083 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:173100 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:262400 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:307200 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:300123 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency skos:exactMatch UMLS:C0271561 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:262650 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:612781 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency skos:broadMatch ICD10:E23.0 Unspecified -Orphanet:631 Non-acquired isolated growth hormone deficiency skos:exactMatch UMLS:C0013338 Unspecified -Orphanet:634 Netherton syndrome oboInOwl:hasDbXref ICD10:Q80.8 Unspecified -Orphanet:634 Netherton syndrome oboInOwl:hasDbXref MedDRA:10062909 Unspecified -Orphanet:634 Netherton syndrome oboInOwl:hasDbXref OMIM:256500 Unspecified -Orphanet:634 Netherton syndrome oboInOwl:hasDbXref UMLS:C0265962 Unspecified -Orphanet:634 Netherton syndrome skos:broadMatch ICD10:Q80.8 Unspecified -Orphanet:634 Netherton syndrome skos:exactMatch UMLS:C0265962 Unspecified -Orphanet:634 Netherton syndrome skos:exactMatch OMIM:256500 Unspecified -Orphanet:634 Netherton syndrome skos:exactMatch MedDRA:10062909 Unspecified -Orphanet:633 Laron syndrome oboInOwl:hasDbXref UMLS:C0271568 Unspecified -Orphanet:633 Laron syndrome oboInOwl:hasDbXref MESH:D046150 Unspecified -Orphanet:633 Laron syndrome oboInOwl:hasDbXref OMIM:262500 Unspecified -Orphanet:633 Laron syndrome oboInOwl:hasDbXref ICD10:E34.3 Unspecified -Orphanet:633 Laron syndrome skos:exactMatch OMIM:262500 Unspecified -Orphanet:633 Laron syndrome skos:broadMatch ICD10:E34.3 Unspecified -Orphanet:633 Laron syndrome skos:exactMatch UMLS:C0271568 Unspecified -Orphanet:633 Laron syndrome skos:exactMatch MESH:D046150 Unspecified -Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:613675 Unspecified -Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:162210 Unspecified -Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref MESH:C538607 Unspecified -Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:162200 Unspecified -Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref MedDRA:10047712 Unspecified -Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 Unspecified -Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref MESH:D009456 Unspecified -Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref UMLS:C0027831 Unspecified -Orphanet:636 Neurofibromatosis type 1 skos:exactMatch MESH:D009456 Unspecified -Orphanet:636 Neurofibromatosis type 1 skos:exactMatch UMLS:C0027831 Unspecified -Orphanet:636 Neurofibromatosis type 1 skos:narrowMatch OMIM:162200 Unspecified -Orphanet:636 Neurofibromatosis type 1 skos:exactMatch MedDRA:10047712 Unspecified -Orphanet:636 Neurofibromatosis type 1 skos:broadMatch ICD10:Q85.0 Unspecified -Orphanet:636 Neurofibromatosis type 1 skos:exactMatch MESH:C538607 Unspecified -Orphanet:636 Neurofibromatosis type 1 skos:narrowMatch OMIM:613675 Unspecified -Orphanet:636 Neurofibromatosis type 1 skos:narrowMatch OMIM:162210 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:256700 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613017 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613015 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613013 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref MESH:C536408 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref ICD10:C74.9 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref UMLS:C0027819 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref MESH:D009447 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613016 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613014 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref UMLS:C2931189 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:616792 Unspecified -Orphanet:635 Neuroblastoma oboInOwl:hasDbXref MedDRA:10029260 Unspecified -Orphanet:635 Neuroblastoma skos:exactMatch MedDRA:10029260 Unspecified -Orphanet:635 Neuroblastoma skos:narrowMatch OMIM:256700 Unspecified -Orphanet:635 Neuroblastoma skos:exactMatch UMLS:C0027819 Unspecified -Orphanet:635 Neuroblastoma skos:exactMatch MESH:D009447 Unspecified -Orphanet:635 Neuroblastoma skos:broadMatch ICD10:C74.9 Unspecified -Orphanet:635 Neuroblastoma skos:narrowMatch OMIM:613013 Unspecified -Orphanet:635 Neuroblastoma skos:narrowMatch OMIM:613015 Unspecified -Orphanet:635 Neuroblastoma skos:narrowMatch OMIM:613017 Unspecified -Orphanet:635 Neuroblastoma skos:exactMatch UMLS:C2931189 Unspecified -Orphanet:635 Neuroblastoma skos:exactMatch MESH:C536408 Unspecified -Orphanet:635 Neuroblastoma skos:narrowMatch OMIM:616792 Unspecified -Orphanet:635 Neuroblastoma skos:narrowMatch OMIM:613014 Unspecified -Orphanet:635 Neuroblastoma skos:narrowMatch OMIM:613016 Unspecified -Orphanet:498251 Menstrual cycle-dependent periodic fever oboInOwl:hasDbXref ICD10:N94.8 Unspecified -Orphanet:498251 Menstrual cycle-dependent periodic fever skos:broadMatch ICD10:N94.8 Unspecified -Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref OMIM:256450 Unspecified -Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency skos:broadMatch OMIM:256450 Unspecified -Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref MESH:D004402 Unspecified -Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref UMLS:C0013364 Unspecified -Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref MedDRA:10039179 Unspecified -Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref ICD10:G90.1 Unspecified -Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref OMIM:223900 Unspecified -Orphanet:1764 Familial dysautonomia skos:exactMatch MESH:D004402 Unspecified -Orphanet:1764 Familial dysautonomia skos:exactMatch UMLS:C0013364 Unspecified -Orphanet:1764 Familial dysautonomia skos:exactMatch MedDRA:10039179 Unspecified -Orphanet:1764 Familial dysautonomia skos:exactMatch OMIM:223900 Unspecified -Orphanet:1764 Familial dysautonomia skos:exactMatch ICD10:G90.1 Unspecified -Orphanet:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref ICD10:D81.1 Unspecified -Orphanet:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref OMIM:611291 Unspecified -Orphanet:169079 Cernunnos-XLF deficiency skos:exactMatch OMIM:611291 Unspecified -Orphanet:169079 Cernunnos-XLF deficiency skos:broadMatch ICD10:D81.1 Unspecified -Orphanet:314478 Ovarian fibrothecoma oboInOwl:hasDbXref ICD10:D27 Unspecified -Orphanet:314478 Ovarian fibrothecoma skos:broadMatch ICD10:D27 Unspecified -Orphanet:352763 Scleredema oboInOwl:hasDbXref ICD10:M34.8 Unspecified -Orphanet:352763 Scleredema skos:broadMatch ICD10:M34.8 Unspecified -Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin oboInOwl:hasDbXref ICD10:D58.8 Unspecified -Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin oboInOwl:hasDbXref OMIM:185020 Unspecified -Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin skos:exactMatch OMIM:185020 Unspecified -Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin skos:broadMatch ICD10:D58.8 Unspecified -Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref MESH:C535731 Unspecified -Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:615268 Unspecified -Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref UMLS:C0394006 Unspecified -Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:610185 Unspecified -Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref MedDRA:10013140 Unspecified -Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:224050 Unspecified -Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:613227 Unspecified -Orphanet:1766 Dysequilibrium syndrome skos:narrowMatch OMIM:613227 Unspecified -Orphanet:1766 Dysequilibrium syndrome skos:narrowMatch OMIM:610185 Unspecified -Orphanet:1766 Dysequilibrium syndrome skos:exactMatch MedDRA:10013140 Unspecified -Orphanet:1766 Dysequilibrium syndrome skos:exactMatch OMIM:224050 Unspecified -Orphanet:1766 Dysequilibrium syndrome skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:1766 Dysequilibrium syndrome skos:exactMatch UMLS:C0394006 Unspecified -Orphanet:1766 Dysequilibrium syndrome skos:exactMatch MESH:C535731 Unspecified -Orphanet:1766 Dysequilibrium syndrome skos:narrowMatch OMIM:615268 Unspecified -Orphanet:637 Neurofibromatosis type 2 oboInOwl:hasDbXref ICD10:Q85.0 Unspecified -Orphanet:637 Neurofibromatosis type 2 oboInOwl:hasDbXref UMLS:C0027859 Unspecified -Orphanet:637 Neurofibromatosis type 2 oboInOwl:hasDbXref MedDRA:10029271 Unspecified -Orphanet:637 Neurofibromatosis type 2 oboInOwl:hasDbXref OMIM:101000 Unspecified -Orphanet:637 Neurofibromatosis type 2 oboInOwl:hasDbXref UMLS:C0027832 Unspecified -Orphanet:637 Neurofibromatosis type 2 oboInOwl:hasDbXref MESH:D016518 Unspecified -Orphanet:637 Neurofibromatosis type 2 oboInOwl:hasDbXref MedDRA:10000523 Unspecified -Orphanet:637 Neurofibromatosis type 2 oboInOwl:hasDbXref MESH:D009464 Unspecified -Orphanet:637 Neurofibromatosis type 2 oboInOwl:hasDbXref UMLS:C1136041 Unspecified -Orphanet:637 Neurofibromatosis type 2 skos:exactMatch UMLS:C1136041 Unspecified -Orphanet:637 Neurofibromatosis type 2 skos:broadMatch ICD10:Q85.0 Unspecified -Orphanet:637 Neurofibromatosis type 2 skos:exactMatch OMIM:101000 Unspecified -Orphanet:637 Neurofibromatosis type 2 skos:exactMatch MESH:D009464 Unspecified -Orphanet:637 Neurofibromatosis type 2 skos:exactMatch MedDRA:10000523 Unspecified -Orphanet:637 Neurofibromatosis type 2 skos:exactMatch MESH:D016518 Unspecified -Orphanet:637 Neurofibromatosis type 2 skos:exactMatch UMLS:C0027832 Unspecified -Orphanet:637 Neurofibromatosis type 2 skos:exactMatch MedDRA:10029271 Unspecified -Orphanet:637 Neurofibromatosis type 2 skos:exactMatch UMLS:C0027859 Unspecified -Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome oboInOwl:hasDbXref OMIM:615368 Unspecified -Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome skos:exactMatch OMIM:615368 Unspecified -Orphanet:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG oboInOwl:hasDbXref UMLS:C1736154 Unspecified -Orphanet:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG oboInOwl:hasDbXref ICD10:G61.8 Unspecified -Orphanet:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:exactMatch UMLS:C1736154 Unspecified -Orphanet:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:broadMatch ICD10:G61.8 Unspecified -Orphanet:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref OMIM:108600 Unspecified -Orphanet:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref UMLS:C1970107 Unspecified -Orphanet:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:251282 Autosomal dominant spastic ataxia type 1 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:251282 Autosomal dominant spastic ataxia type 1 skos:exactMatch UMLS:C1970107 Unspecified -Orphanet:251282 Autosomal dominant spastic ataxia type 1 skos:exactMatch OMIM:108600 Unspecified -Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C0162674 Unspecified -Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 Unspecified -Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia skos:exactMatch ICD10:H49.4 Unspecified -Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia skos:exactMatch UMLS:C0162674 Unspecified -Orphanet:498228 Phyllodes tumor of the prostate oboInOwl:hasDbXref ICD10:C61 Unspecified -Orphanet:498228 Phyllodes tumor of the prostate skos:broadMatch ICD10:C61 Unspecified -Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref MedDRA:10048244 Unspecified -Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref ICD10:L60.5 Unspecified -Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref UMLS:C0221348 Unspecified -Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref OMIM:153300 Unspecified -Orphanet:662 Yellow nail syndrome skos:exactMatch MedDRA:10048244 Unspecified -Orphanet:662 Yellow nail syndrome skos:exactMatch UMLS:C0221348 Unspecified -Orphanet:662 Yellow nail syndrome skos:exactMatch OMIM:153300 Unspecified -Orphanet:662 Yellow nail syndrome skos:broadMatch ICD10:L60.5 Unspecified -Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref MedDRA:10052450 Unspecified -Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref OMIM:311250 Unspecified -Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref ICD10:E72.4 Unspecified -Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref MESH:D020163 Unspecified -Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref UMLS:C0268542 Unspecified -Orphanet:664 Ornithine transcarbamylase deficiency skos:exactMatch MESH:D020163 Unspecified -Orphanet:664 Ornithine transcarbamylase deficiency skos:exactMatch UMLS:C0268542 Unspecified -Orphanet:664 Ornithine transcarbamylase deficiency skos:exactMatch OMIM:311250 Unspecified -Orphanet:664 Ornithine transcarbamylase deficiency skos:exactMatch MedDRA:10052450 Unspecified -Orphanet:664 Ornithine transcarbamylase deficiency skos:broadMatch ICD10:E72.4 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref UMLS:C0029434 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166230 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:615066 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166210 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:616229 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:615220 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref MESH:D010013 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref UMLS:C1859069 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref UMLS:C0023931 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610968 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:259440 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:259420 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610915 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:614856 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:613848 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610682 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:616507 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166220 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref MedDRA:10031243 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166200 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:613982 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:619131 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref ICD10:Q78.0 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610967 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:613849 Unspecified -Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref UMLS:C0268360 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:exactMatch MESH:D010013 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:exactMatch UMLS:C1859069 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:exactMatch UMLS:C0023931 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:613982 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:619131 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:610967 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:exactMatch UMLS:C0029434 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:613849 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:616507 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:610682 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:166200 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:166220 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:615220 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:exactMatch ICD10:Q78.0 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:616229 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:259420 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:259440 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:610968 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:exactMatch MedDRA:10031243 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:614856 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:610915 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:613848 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:exactMatch UMLS:C0268360 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:615066 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:166210 Unspecified -Orphanet:666 Osteogenesis imperfecta skos:narrowMatch OMIM:166230 Unspecified -Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref ICD10:D81.2 Unspecified -Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref OMIM:615607 Unspecified -Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency skos:exactMatch OMIM:615607 Unspecified -Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency skos:broadMatch ICD10:D81.2 Unspecified -Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref UMLS:C1828210 Unspecified -Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref OMIM:153870 Unspecified -Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:251287 Benign concentric annular macular dystrophy skos:exactMatch UMLS:C1828210 Unspecified -Orphanet:251287 Benign concentric annular macular dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:251287 Benign concentric annular macular dystrophy skos:exactMatch OMIM:153870 Unspecified -Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref OMIM:608957 Unspecified -Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref UMLS:C1837065 Unspecified -Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch UMLS:C1837065 Unspecified -Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch OMIM:608957 Unspecified -Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref ICD10:E70.2 Unspecified -Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref UMLS:C0268487 Unspecified -Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref OMIM:276600 Unspecified -Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref MedDRA:10069463 Unspecified -Orphanet:28378 Tyrosinemia type 2 skos:broadMatch ICD10:E70.2 Unspecified -Orphanet:28378 Tyrosinemia type 2 skos:exactMatch MedDRA:10069463 Unspecified -Orphanet:28378 Tyrosinemia type 2 skos:exactMatch OMIM:276600 Unspecified -Orphanet:28378 Tyrosinemia type 2 skos:exactMatch UMLS:C0268487 Unspecified -Orphanet:668 Osteosarcoma oboInOwl:hasDbXref OMIM:259500 Unspecified -Orphanet:668 Osteosarcoma oboInOwl:hasDbXref MESH:D012516 Unspecified -Orphanet:668 Osteosarcoma oboInOwl:hasDbXref MedDRA:10031291 Unspecified -Orphanet:668 Osteosarcoma oboInOwl:hasDbXref UMLS:C0029463 Unspecified -Orphanet:668 Osteosarcoma oboInOwl:hasDbXref ICD10:C41.9 Unspecified -Orphanet:668 Osteosarcoma skos:exactMatch OMIM:259500 Unspecified -Orphanet:668 Osteosarcoma skos:broadMatch ICD10:C41.9 Unspecified -Orphanet:668 Osteosarcoma skos:exactMatch MedDRA:10031291 Unspecified -Orphanet:668 Osteosarcoma skos:exactMatch UMLS:C0029463 Unspecified -Orphanet:668 Osteosarcoma skos:exactMatch MESH:D012516 Unspecified -Orphanet:75566 Loeffler endocarditis oboInOwl:hasDbXref ICD10:I42.3 Unspecified -Orphanet:75566 Loeffler endocarditis oboInOwl:hasDbXref UMLS:C0206143 Unspecified -Orphanet:75566 Loeffler endocarditis oboInOwl:hasDbXref MedDRA:10052841 Unspecified -Orphanet:75566 Loeffler endocarditis skos:broadMatch ICD10:I42.3 Unspecified -Orphanet:75566 Loeffler endocarditis skos:exactMatch MedDRA:10052841 Unspecified -Orphanet:75566 Loeffler endocarditis skos:exactMatch UMLS:C0206143 Unspecified -Orphanet:75565 Tropical endomyocardial fibrosis oboInOwl:hasDbXref ICD10:I42.3 Unspecified -Orphanet:75565 Tropical endomyocardial fibrosis skos:broadMatch ICD10:I42.3 Unspecified -Orphanet:75564 Acquired idiopathic sideroblastic anemia oboInOwl:hasDbXref UMLS:C1264195 Unspecified -Orphanet:75564 Acquired idiopathic sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.3 Unspecified -Orphanet:75564 Acquired idiopathic sideroblastic anemia skos:broadMatch ICD10:D64.3 Unspecified -Orphanet:75564 Acquired idiopathic sideroblastic anemia skos:exactMatch UMLS:C1264195 Unspecified -Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 Unspecified -Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref MESH:C536761 Unspecified -Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref OMIM:300751 Unspecified -Orphanet:75563 X-linked sideroblastic anemia skos:exactMatch OMIM:300751 Unspecified -Orphanet:75563 X-linked sideroblastic anemia skos:exactMatch MESH:C536761 Unspecified -Orphanet:75563 X-linked sideroblastic anemia skos:broadMatch ICD10:D64.0 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:615190 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:616353 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:305000 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:127550 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613989 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613987 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613990 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:224230 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref MESH:D019871 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref MedDRA:10062759 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613988 Unspecified -Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref UMLS:C0265965 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:narrowMatch OMIM:613989 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:narrowMatch OMIM:613987 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:narrowMatch OMIM:613990 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:exactMatch MESH:D019871 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:exactMatch UMLS:C0265965 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:narrowMatch OMIM:616353 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:narrowMatch OMIM:305000 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:exactMatch MedDRA:10062759 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:narrowMatch OMIM:615190 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:exactMatch OMIM:127550 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:narrowMatch OMIM:613988 Unspecified -Orphanet:1775 Dyskeratosis congenita skos:narrowMatch OMIM:224230 Unspecified -Orphanet:661 Ondine syndrome oboInOwl:hasDbXref MedDRA:10007982 Unspecified -Orphanet:661 Ondine syndrome oboInOwl:hasDbXref ICD10:G47.3 Unspecified -Orphanet:661 Ondine syndrome oboInOwl:hasDbXref OMIM:209880 Unspecified -Orphanet:661 Ondine syndrome oboInOwl:hasDbXref UMLS:C1275808 Unspecified -Orphanet:661 Ondine syndrome oboInOwl:hasDbXref MedDRA:10066131 Unspecified -Orphanet:661 Ondine syndrome skos:exactMatch MedDRA:10066131 Unspecified -Orphanet:661 Ondine syndrome skos:exactMatch UMLS:C1275808 Unspecified -Orphanet:661 Ondine syndrome skos:exactMatch OMIM:209880 Unspecified -Orphanet:661 Ondine syndrome skos:exactMatch MedDRA:10007982 Unspecified -Orphanet:661 Ondine syndrome skos:broadMatch ICD10:G47.3 Unspecified -Orphanet:466677 Scorpion envenomation oboInOwl:hasDbXref ICD10:T63.2 Unspecified -Orphanet:466677 Scorpion envenomation skos:exactMatch ICD10:T63.2 Unspecified -Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref UMLS:C0268494 Unspecified -Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:203100 Unspecified -Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:606952 Unspecified -Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:352731 Oculocutaneous albinism type 1 skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:352731 Oculocutaneous albinism type 1 skos:narrowMatch OMIM:606952 Unspecified -Orphanet:352731 Oculocutaneous albinism type 1 skos:narrowMatch OMIM:203100 Unspecified -Orphanet:352731 Oculocutaneous albinism type 1 skos:exactMatch UMLS:C0268494 Unspecified -Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref UMLS:C1854520 Unspecified -Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref OMIM:155100 Unspecified -Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref OMIM:600208 Unspecified -Orphanet:182050 MYH9-related disease skos:narrowMatch OMIM:600208 Unspecified -Orphanet:182050 MYH9-related disease skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:182050 MYH9-related disease skos:exactMatch UMLS:C1854520 Unspecified -Orphanet:182050 MYH9-related disease skos:exactMatch OMIM:155100 Unspecified -Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref OMIM:612783 Unspecified -Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref OMIM:612782 Unspecified -Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction skos:narrowMatch OMIM:612783 Unspecified -Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction skos:narrowMatch OMIM:612782 Unspecified -Orphanet:398097 Neonatal antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 Unspecified -Orphanet:398097 Neonatal antiphospholipid syndrome skos:broadMatch ICD10:D68.6 Unspecified -Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10:D44.8 Unspecified -Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MedDRA:10028190 Unspecified -Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref OMIM:131100 Unspecified -Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MESH:D018761 Unspecified -Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref UMLS:C0025267 Unspecified -Orphanet:652 Multiple endocrine neoplasia type 1 skos:exactMatch UMLS:C0025267 Unspecified -Orphanet:652 Multiple endocrine neoplasia type 1 skos:exactMatch MESH:D018761 Unspecified -Orphanet:652 Multiple endocrine neoplasia type 1 skos:broadMatch ICD10:D44.8 Unspecified -Orphanet:652 Multiple endocrine neoplasia type 1 skos:exactMatch MedDRA:10028190 Unspecified -Orphanet:652 Multiple endocrine neoplasia type 1 skos:exactMatch OMIM:131100 Unspecified -Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:601363 Unspecified -Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:601583 Unspecified -Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:616806 Unspecified -Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:194090 Unspecified -Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:194070 Unspecified -Orphanet:654 Nephroblastoma oboInOwl:hasDbXref MedDRA:10029145 Unspecified -Orphanet:654 Nephroblastoma oboInOwl:hasDbXref MESH:D009396 Unspecified -Orphanet:654 Nephroblastoma oboInOwl:hasDbXref UMLS:C0027708 Unspecified -Orphanet:654 Nephroblastoma oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:194071 Unspecified -Orphanet:654 Nephroblastoma skos:narrowMatch OMIM:194071 Unspecified -Orphanet:654 Nephroblastoma skos:broadMatch ICD10:C64 Unspecified -Orphanet:654 Nephroblastoma skos:exactMatch MedDRA:10029145 Unspecified -Orphanet:654 Nephroblastoma skos:narrowMatch OMIM:616806 Unspecified -Orphanet:654 Nephroblastoma skos:exactMatch UMLS:C0027708 Unspecified -Orphanet:654 Nephroblastoma skos:narrowMatch OMIM:194070 Unspecified -Orphanet:654 Nephroblastoma skos:narrowMatch OMIM:194090 Unspecified -Orphanet:654 Nephroblastoma skos:exactMatch MESH:D009396 Unspecified -Orphanet:654 Nephroblastoma skos:narrowMatch OMIM:601583 Unspecified -Orphanet:654 Nephroblastoma skos:narrowMatch OMIM:601363 Unspecified -Orphanet:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref OMIM:613677 Unspecified -Orphanet:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref ICD10:E26.0 Unspecified -Orphanet:251274 Familial hyperaldosteronism type III skos:broadMatch ICD10:E26.0 Unspecified -Orphanet:251274 Familial hyperaldosteronism type III skos:exactMatch OMIM:613677 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref OMIM:155240 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref OMIM:171400 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref MedDRA:10028191 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref ICD10:D44.8 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref UMLS:C0025268 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref OMIM:162300 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 skos:narrowMatch OMIM:171400 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 skos:narrowMatch OMIM:155240 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 skos:broadMatch ICD10:D44.8 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 skos:exactMatch MedDRA:10028191 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 skos:narrowMatch OMIM:162300 Unspecified -Orphanet:653 Multiple endocrine neoplasia type 2 skos:exactMatch UMLS:C0025268 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref UMLS:C1868672 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:614131 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:301028 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616032 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:603278 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:615244 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:607832 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:612551 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616892 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:613237 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.1 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.3 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:618177 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:618179 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:615573 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619201 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616730 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616002 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:603965 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:256370 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616220 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616893 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619155 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:600995 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:615861 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:610725 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:618176 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:618178 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:614196 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch ICD10:N04.8 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618178 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618176 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:619155 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:600995 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616893 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616220 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:256370 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:broadMatch OMIM:615861 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:610725 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616730 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:exactMatch UMLS:C1868672 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:615573 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:614196 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616002 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:603965 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:619201 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618179 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618177 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch ICD10:N04.3 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch ICD10:N04.1 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616892 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:615244 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:607832 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:603278 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:613237 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:614131 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:612551 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616032 Unspecified -Orphanet:656 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:301028 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:615862 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:604387 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:613820 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:613824 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:614377 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:617271 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:602088 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:256100 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref UMLS:C0687120 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:611498 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:615382 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:606966 Unspecified -Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:613159 Unspecified -Orphanet:655 Nephronophthisis skos:narrowMatch OMIM:614377 Unspecified -Orphanet:655 Nephronophthisis skos:broadMatch ICD10:Q61.5 Unspecified -Orphanet:655 Nephronophthisis skos:narrowMatch OMIM:613824 Unspecified -Orphanet:655 Nephronophthisis skos:narrowMatch OMIM:613820 Unspecified -Orphanet:655 Nephronophthisis skos:narrowMatch OMIM:617271 Unspecified -Orphanet:655 Nephronophthisis skos:narrowMatch OMIM:602088 Unspecified -Orphanet:655 Nephronophthisis skos:narrowMatch OMIM:604387 Unspecified -Orphanet:655 Nephronophthisis skos:narrowMatch OMIM:615862 Unspecified -Orphanet:655 Nephronophthisis skos:narrowMatch OMIM:613159 Unspecified -Orphanet:655 Nephronophthisis skos:narrowMatch OMIM:606966 Unspecified -Orphanet:655 Nephronophthisis skos:narrowMatch OMIM:615382 Unspecified -Orphanet:655 Nephronophthisis skos:exactMatch OMIM:256100 Unspecified -Orphanet:655 Nephronophthisis skos:exactMatch UMLS:C0687120 Unspecified -Orphanet:655 Nephronophthisis skos:narrowMatch OMIM:611498 Unspecified -Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref ICD10:D82.8 Unspecified -Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref OMIM:618806 Unspecified -Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref OMIM:601705 Unspecified -Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency skos:exactMatch OMIM:618806 Unspecified -Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency skos:exactMatch OMIM:601705 Unspecified -Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency skos:broadMatch ICD10:D82.8 Unspecified -Orphanet:276556 Hyperinsulinism due to UCP2 deficiency oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:276556 Hyperinsulinism due to UCP2 deficiency skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref UMLS:C2700553 Unspecified -Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref MedDRA:10069097 Unspecified -Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref OMIM:603554 Unspecified -Orphanet:39041 Omenn syndrome skos:exactMatch MedDRA:10069097 Unspecified -Orphanet:39041 Omenn syndrome skos:exactMatch OMIM:603554 Unspecified -Orphanet:39041 Omenn syndrome skos:exactMatch UMLS:C2700553 Unspecified -Orphanet:39041 Omenn syndrome skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref OMIM:615179 Unspecified -Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:352745 Oculocutaneous albinism type 7 skos:exactMatch OMIM:615179 Unspecified -Orphanet:352745 Oculocutaneous albinism type 7 skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:371007 Congenital muscular dystrophy with hyperlaxity oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:371007 Congenital muscular dystrophy with hyperlaxity skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:650 LCAT deficiency oboInOwl:hasDbXref OMIM:245900 Unspecified -Orphanet:650 LCAT deficiency oboInOwl:hasDbXref UMLS:C0023195 Unspecified -Orphanet:650 LCAT deficiency oboInOwl:hasDbXref ICD10:E78.6 Unspecified -Orphanet:650 LCAT deficiency oboInOwl:hasDbXref OMIM:136120 Unspecified -Orphanet:650 LCAT deficiency skos:narrowMatch OMIM:245900 Unspecified -Orphanet:650 LCAT deficiency skos:narrowMatch OMIM:136120 Unspecified -Orphanet:650 LCAT deficiency skos:exactMatch UMLS:C0023195 Unspecified -Orphanet:650 LCAT deficiency skos:broadMatch ICD10:E78.6 Unspecified -Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref OMIM:609528 Unspecified -Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref UMLS:C1836033 Unspecified -Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:66631 CEDNIK syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:66631 CEDNIK syndrome skos:exactMatch UMLS:C1836033 Unspecified -Orphanet:66631 CEDNIK syndrome skos:exactMatch OMIM:609528 Unspecified -Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref OMIM:118980 Unspecified -Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref ICD10:Q74.0 Unspecified -Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref UMLS:C0265565 Unspecified -Orphanet:66630 Congenital pseudoarthrosis of the clavicle skos:exactMatch UMLS:C0265565 Unspecified -Orphanet:66630 Congenital pseudoarthrosis of the clavicle skos:exactMatch OMIM:118980 Unspecified -Orphanet:66630 Congenital pseudoarthrosis of the clavicle skos:broadMatch ICD10:Q74.0 Unspecified -Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome oboInOwl:hasDbXref ICD10:H90.3 Unspecified -Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome skos:broadMatch ICD10:H90.3 Unspecified -Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref OMIM:610198 Unspecified -Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref UMLS:C1857776 Unspecified -Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:66634 Dilated cardiomyopathy with ataxia skos:exactMatch UMLS:C1857776 Unspecified -Orphanet:66634 Dilated cardiomyopathy with ataxia skos:exactMatch OMIM:610198 Unspecified -Orphanet:66634 Dilated cardiomyopathy with ataxia skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref UMLS:C1970236 Unspecified -Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref ICD10:Q15.8 Unspecified -Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref OMIM:611040 Unspecified -Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome skos:broadMatch ICD10:Q15.8 Unspecified -Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome skos:exactMatch OMIM:611040 Unspecified -Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome skos:exactMatch UMLS:C1970236 Unspecified -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 Unspecified -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 Unspecified -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 Unspecified -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 Unspecified -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 Unspecified -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri skos:narrowMatch ICD10:C54.0 Unspecified -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri skos:narrowMatch ICD10:C54.2 Unspecified -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri skos:narrowMatch ICD10:C54.8 Unspecified -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri skos:narrowMatch ICD10:C54.3 Unspecified -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri skos:narrowMatch ICD10:C54.1 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:619208 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref MedDRA:10068842 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:614594 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref UMLS:C2609071 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:300918 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:narrowMatch OMIM:619208 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:exactMatch UMLS:C2609071 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:narrowMatch OMIM:300918 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:exactMatch MedDRA:10068842 Unspecified -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:narrowMatch OMIM:614594 Unspecified -Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:306000 Unspecified -Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:613027 Unspecified -Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C2751643 Unspecified -Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency skos:narrowMatch OMIM:306000 Unspecified -Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency skos:exactMatch UMLS:C2751643 Unspecified -Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency skos:narrowMatch OMIM:613027 Unspecified -Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref ICD10:K63.9 Unspecified -Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref OMIM:614162 Unspecified -Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome skos:broadMatch ICD10:K63.9 Unspecified -Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome skos:exactMatch OMIM:614162 Unspecified -Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref OMIM:606070 Unspecified -Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:600 Vocal cord and pharyngeal distal myopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:600 Vocal cord and pharyngeal distal myopathy skos:broadMatch OMIM:606070 Unspecified -Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref OMIM:604454 Unspecified -Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref MESH:C536690 Unspecified -Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref UMLS:C2931290 Unspecified -Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref UMLS:C0221054 Unspecified -Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:603 Distal myopathy, Welander type skos:exactMatch UMLS:C2931290 Unspecified -Orphanet:603 Distal myopathy, Welander type skos:exactMatch UMLS:C0221054 Unspecified -Orphanet:603 Distal myopathy, Welander type skos:exactMatch OMIM:604454 Unspecified -Orphanet:603 Distal myopathy, Welander type skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:603 Distal myopathy, Welander type skos:exactMatch MESH:C536690 Unspecified -Orphanet:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref OMIM:614018 Unspecified -Orphanet:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:280620 Progressive myoclonic epilepsy type 6 skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:280620 Progressive myoclonic epilepsy type 6 skos:exactMatch OMIM:614018 Unspecified -Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect oboInOwl:hasDbXref OMIM:615147 Unspecified -Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect skos:exactMatch OMIM:615147 Unspecified -Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:602 GNE myopathy oboInOwl:hasDbXref UMLS:C1833373 Unspecified -Orphanet:602 GNE myopathy oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:602 GNE myopathy oboInOwl:hasDbXref UMLS:C1853926 Unspecified -Orphanet:602 GNE myopathy oboInOwl:hasDbXref OMIM:617158 Unspecified -Orphanet:602 GNE myopathy oboInOwl:hasDbXref OMIM:605820 Unspecified -Orphanet:602 GNE myopathy oboInOwl:hasDbXref MESH:C536816 Unspecified -Orphanet:602 GNE myopathy skos:exactMatch MESH:C536816 Unspecified -Orphanet:602 GNE myopathy skos:exactMatch OMIM:605820 Unspecified -Orphanet:602 GNE myopathy skos:narrowMatch OMIM:617158 Unspecified -Orphanet:602 GNE myopathy skos:exactMatch UMLS:C1853926 Unspecified -Orphanet:602 GNE myopathy skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:602 GNE myopathy skos:exactMatch UMLS:C1833373 Unspecified -Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref OMIM:613641 Unspecified -Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B skos:exactMatch OMIM:613641 Unspecified -Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome oboInOwl:hasDbXref OMIM:615139 Unspecified -Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:broadMatch ICD10:Q87.1 Unspecified -Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:exactMatch OMIM:615139 Unspecified -Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C1839130 Unspecified -Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref OMIM:314250 Unspecified -Orphanet:53351 X-linked dystonia-parkinsonism skos:exactMatch UMLS:C1839130 Unspecified -Orphanet:53351 X-linked dystonia-parkinsonism skos:exactMatch OMIM:314250 Unspecified -Orphanet:53351 X-linked dystonia-parkinsonism skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref ICD10:L81.8 Unspecified -Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref UMLS:C1840392 Unspecified -Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref OMIM:145250 Unspecified -Orphanet:280628 Familial progressive hyper- and hypopigmentation skos:exactMatch UMLS:C1840392 Unspecified -Orphanet:280628 Familial progressive hyper- and hypopigmentation skos:broadMatch ICD10:L81.8 Unspecified -Orphanet:280628 Familial progressive hyper- and hypopigmentation skos:broadMatch OMIM:145250 Unspecified -Orphanet:98267 Genetic non-syndromic obesity oboInOwl:hasDbXref ICD10:E66.8 Unspecified -Orphanet:98267 Genetic non-syndromic obesity skos:broadMatch ICD10:E66.8 Unspecified -Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref OMIM:245570 Unspecified -Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref OMIM:300643 Unspecified -Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome skos:narrowMatch OMIM:300643 Unspecified -Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome skos:broadMatch OMIM:245570 Unspecified -Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref UMLS:C0346388 Unspecified -Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref OMIM:606660 Unspecified -Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref ICD10:C69.3 Unspecified -Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref OMIM:155720 Unspecified -Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref UMLS:C0220633 Unspecified -Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref MedDRA:10061252 Unspecified -Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref UMLS:C0346373 Unspecified -Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref MESH:C536494 Unspecified -Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref OMIM:606661 Unspecified -Orphanet:39044 Uveal melanoma skos:narrowMatch OMIM:606660 Unspecified -Orphanet:39044 Uveal melanoma skos:broadMatch ICD10:C69.3 Unspecified -Orphanet:39044 Uveal melanoma skos:exactMatch MESH:C536494 Unspecified -Orphanet:39044 Uveal melanoma skos:exactMatch OMIM:155720 Unspecified -Orphanet:39044 Uveal melanoma skos:exactMatch UMLS:C0220633 Unspecified -Orphanet:39044 Uveal melanoma skos:exactMatch MedDRA:10061252 Unspecified -Orphanet:39044 Uveal melanoma skos:narrowMatch OMIM:606661 Unspecified -Orphanet:39044 Uveal melanoma skos:exactMatch UMLS:C0346388 Unspecified -Orphanet:39044 Uveal melanoma skos:exactMatch UMLS:C0346373 Unspecified -Orphanet:66662 Extracutaneous mastocytoma oboInOwl:hasDbXref UMLS:C0272202 Unspecified -Orphanet:66662 Extracutaneous mastocytoma oboInOwl:hasDbXref ICD10:C96.2 Unspecified -Orphanet:66662 Extracutaneous mastocytoma skos:broadMatch ICD10:C96.2 Unspecified -Orphanet:66662 Extracutaneous mastocytoma skos:exactMatch UMLS:C0272202 Unspecified -Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome oboInOwl:hasDbXref ICD10:E13 Unspecified -Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome oboInOwl:hasDbXref OMIM:200170 Unspecified -Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:broadMatch ICD10:E13 Unspecified -Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch OMIM:200170 Unspecified -Orphanet:449280 Scedosporiosis oboInOwl:hasDbXref ICD10:B48.7 Unspecified -Orphanet:449280 Scedosporiosis skos:broadMatch ICD10:B48.7 Unspecified -Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref OMIM:226300 Unspecified -Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome skos:exactMatch OMIM:226300 Unspecified -Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref OMIM:608354 Unspecified -Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref OMIM:608355 Unspecified -Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref UMLS:C0038505 Unspecified -Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref ICD10:Q87.2 Unspecified -Orphanet:90307 Parkes Weber syndrome skos:exactMatch UMLS:C0038505 Unspecified -Orphanet:90307 Parkes Weber syndrome skos:broadMatch ICD10:Q87.2 Unspecified -Orphanet:90307 Parkes Weber syndrome skos:exactMatch OMIM:608355 Unspecified -Orphanet:90307 Parkes Weber syndrome skos:exactMatch OMIM:608354 Unspecified -Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref UMLS:C1842531 Unspecified -Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref OMIM:608105 Unspecified -Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref MESH:C535499 Unspecified -Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch MESH:C535499 Unspecified -Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch OMIM:608105 Unspecified -Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch UMLS:C1842531 Unspecified -Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref ICD10:Q87.2 Unspecified -Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref MedDRA:10051452 Unspecified -Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref OMIM:149000 Unspecified -Orphanet:90308 Klippel-Trénaunay syndrome skos:broadMatch ICD10:Q87.2 Unspecified -Orphanet:90308 Klippel-Trénaunay syndrome skos:exactMatch MedDRA:10051452 Unspecified -Orphanet:90308 Klippel-Trénaunay syndrome skos:broadMatch OMIM:149000 Unspecified -Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref UMLS:C2931689 Unspecified -Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref OMIM:602668 Unspecified -Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref UMLS:C0752354 Unspecified -Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref MESH:D020967 Unspecified -Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref ICD10:G71.1 Unspecified -Orphanet:606 Proximal myotonic myopathy skos:exactMatch MESH:D020967 Unspecified -Orphanet:606 Proximal myotonic myopathy skos:exactMatch UMLS:C2931689 Unspecified -Orphanet:606 Proximal myotonic myopathy skos:exactMatch OMIM:602668 Unspecified -Orphanet:606 Proximal myotonic myopathy skos:broadMatch ICD10:G71.1 Unspecified -Orphanet:606 Proximal myotonic myopathy skos:exactMatch UMLS:C0752354 Unspecified -Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref UMLS:C1450052 Unspecified -Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref UMLS:C1838244 Unspecified -Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref OMIM:600334 Unspecified -Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref MESH:C536815 Unspecified -Orphanet:609 Tibial muscular dystrophy skos:exactMatch MESH:C536815 Unspecified -Orphanet:609 Tibial muscular dystrophy skos:exactMatch OMIM:600334 Unspecified -Orphanet:609 Tibial muscular dystrophy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:609 Tibial muscular dystrophy skos:exactMatch UMLS:C1838244 Unspecified -Orphanet:609 Tibial muscular dystrophy skos:exactMatch UMLS:C1450052 Unspecified -Orphanet:66661 Mast cell sarcoma oboInOwl:hasDbXref UMLS:C0036221 Unspecified -Orphanet:66661 Mast cell sarcoma oboInOwl:hasDbXref ICD10:C96.2 Unspecified -Orphanet:66661 Mast cell sarcoma oboInOwl:hasDbXref MESH:D012515 Unspecified -Orphanet:66661 Mast cell sarcoma skos:exactMatch MESH:D012515 Unspecified -Orphanet:66661 Mast cell sarcoma skos:broadMatch ICD10:C96.2 Unspecified -Orphanet:66661 Mast cell sarcoma skos:exactMatch UMLS:C0036221 Unspecified -Orphanet:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 Unspecified -Orphanet:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C0280631 Unspecified -Orphanet:213625 Leiomyosarcoma of the corpus uteri skos:exactMatch UMLS:C0280631 Unspecified -Orphanet:213625 Leiomyosarcoma of the corpus uteri skos:broadMatch ICD10:C54.2 Unspecified -Orphanet:213615 Rhabdomyosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 Unspecified -Orphanet:213615 Rhabdomyosarcoma of the corpus uteri skos:broadMatch ICD10:C54.2 Unspecified -Orphanet:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref UMLS:C1868310 Unspecified -Orphanet:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref OMIM:172870 Unspecified -Orphanet:251295 Pigmented paravenous retinochoroidal atrophy skos:exactMatch UMLS:C1868310 Unspecified -Orphanet:251295 Pigmented paravenous retinochoroidal atrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:251295 Pigmented paravenous retinochoroidal atrophy skos:exactMatch OMIM:172870 Unspecified -Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref ICD10:D82.3 Unspecified -Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref OMIM:300635 Unspecified -Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch OMIM:300635 Unspecified -Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency skos:broadMatch ICD10:D82.3 Unspecified -Orphanet:53347 Brody myopathy oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:53347 Brody myopathy oboInOwl:hasDbXref OMIM:601003 Unspecified -Orphanet:53347 Brody myopathy oboInOwl:hasDbXref UMLS:C1832918 Unspecified -Orphanet:53347 Brody myopathy oboInOwl:hasDbXref MESH:C536607 Unspecified -Orphanet:53347 Brody myopathy skos:exactMatch OMIM:601003 Unspecified -Orphanet:53347 Brody myopathy skos:exactMatch UMLS:C1832918 Unspecified -Orphanet:53347 Brody myopathy skos:exactMatch MESH:C536607 Unspecified -Orphanet:53347 Brody myopathy skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:449285 Snakebite envenomation oboInOwl:hasDbXref ICD10:T63.0 Unspecified -Orphanet:449285 Snakebite envenomation skos:exactMatch ICD10:T63.0 Unspecified -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref OMIM:308240 Unspecified -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref ICD10:D82.3 Unspecified -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:exactMatch OMIM:308240 Unspecified -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:broadMatch ICD10:D82.3 Unspecified -Orphanet:352723 Attenuated Chédiak-Higashi syndrome oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:352723 Attenuated Chédiak-Higashi syndrome skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers oboInOwl:hasDbXref ICD10:Q99.2 Unspecified -Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers oboInOwl:hasDbXref OMIM:300624 Unspecified -Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers skos:broadMatch OMIM:300624 Unspecified -Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers skos:broadMatch ICD10:Q99.2 Unspecified -Orphanet:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref UMLS:C1857423 Unspecified -Orphanet:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref OMIM:219730 Unspecified -Orphanet:443988 Ventriculomegaly-cystic kidney disease skos:exactMatch OMIM:219730 Unspecified -Orphanet:443988 Ventriculomegaly-cystic kidney disease skos:exactMatch UMLS:C1857423 Unspecified -Orphanet:293936 EDICT syndrome oboInOwl:hasDbXref OMIM:614303 Unspecified -Orphanet:293936 EDICT syndrome skos:exactMatch OMIM:614303 Unspecified -Orphanet:213610 Carcinosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.9 Unspecified -Orphanet:213610 Carcinosarcoma of the corpus uteri skos:broadMatch ICD10:C54.9 Unspecified -Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref UMLS:C1304508 Unspecified -Orphanet:210584 Spindle cell hemangioma skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:210584 Spindle cell hemangioma skos:exactMatch UMLS:C1304508 Unspecified -Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 Unspecified -Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 Unspecified -Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 Unspecified -Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 Unspecified -Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 Unspecified -Orphanet:213605 Carcinofibroma of the corpus uteri skos:narrowMatch ICD10:C54.8 Unspecified -Orphanet:213605 Carcinofibroma of the corpus uteri skos:narrowMatch ICD10:C54.2 Unspecified -Orphanet:213605 Carcinofibroma of the corpus uteri skos:narrowMatch ICD10:C54.0 Unspecified -Orphanet:213605 Carcinofibroma of the corpus uteri skos:narrowMatch ICD10:C54.1 Unspecified -Orphanet:213605 Carcinofibroma of the corpus uteri skos:narrowMatch ICD10:C54.3 Unspecified -Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref OMIM:601820 Unspecified -Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:broadMatch OMIM:601820 Unspecified -Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref UMLS:C0272087 Unspecified -Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref ICD10:D74.0 Unspecified -Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250700 Unspecified -Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250800 Unspecified -Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250790 Unspecified -Orphanet:621 Hereditary methemoglobinemia skos:narrowMatch OMIM:250700 Unspecified -Orphanet:621 Hereditary methemoglobinemia skos:broadMatch ICD10:D74.0 Unspecified -Orphanet:621 Hereditary methemoglobinemia skos:narrowMatch OMIM:250790 Unspecified -Orphanet:621 Hereditary methemoglobinemia skos:narrowMatch OMIM:250800 Unspecified -Orphanet:621 Hereditary methemoglobinemia skos:exactMatch UMLS:C0272087 Unspecified -Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:250940 Unspecified -Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:236270 Unspecified -Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref ICD10:E72.1 Unspecified -Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:277410 Unspecified -Orphanet:622 Homocystinuria without methylmalonic aciduria skos:narrowMatch OMIM:277410 Unspecified -Orphanet:622 Homocystinuria without methylmalonic aciduria skos:broadMatch ICD10:E72.1 Unspecified -Orphanet:622 Homocystinuria without methylmalonic aciduria skos:narrowMatch OMIM:236270 Unspecified -Orphanet:622 Homocystinuria without methylmalonic aciduria skos:narrowMatch OMIM:250940 Unspecified -Orphanet:538963 Combined immunodeficiency due to ITK deficiency oboInOwl:hasDbXref ICD10:D82.3 Unspecified -Orphanet:538963 Combined immunodeficiency due to ITK deficiency oboInOwl:hasDbXref OMIM:613011 Unspecified -Orphanet:538963 Combined immunodeficiency due to ITK deficiency skos:broadMatch ICD10:D82.3 Unspecified -Orphanet:538963 Combined immunodeficiency due to ITK deficiency skos:exactMatch OMIM:613011 Unspecified -Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref ICD10:G25.3 Unspecified -Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref UMLS:C2931589 Unspecified -Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref MESH:C537682 Unspecified -Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref OMIM:190100 Unspecified -Orphanet:53372 Hereditary geniospasm skos:exactMatch OMIM:190100 Unspecified -Orphanet:53372 Hereditary geniospasm skos:exactMatch MESH:C537682 Unspecified -Orphanet:53372 Hereditary geniospasm skos:broadMatch ICD10:G25.3 Unspecified -Orphanet:53372 Hereditary geniospasm skos:exactMatch UMLS:C2931589 Unspecified -Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref UMLS:C1847720 Unspecified -Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref ICD10:E72.1 Unspecified -Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref OMIM:606664 Unspecified -Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency skos:broadMatch ICD10:E72.1 Unspecified -Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency skos:exactMatch OMIM:606664 Unspecified -Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency skos:exactMatch UMLS:C1847720 Unspecified -Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref UMLS:C1836727 Unspecified -Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref OMIM:609136 Unspecified -Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease skos:exactMatch OMIM:609136 Unspecified -Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease skos:exactMatch UMLS:C1836727 Unspecified -Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref OMIM:612067 Unspecified -Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref UMLS:C2677567 Unspecified -Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:210571 Dystonia 16 skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:210571 Dystonia 16 skos:exactMatch UMLS:C2677567 Unspecified -Orphanet:210571 Dystonia 16 skos:exactMatch OMIM:612067 Unspecified -Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref UMLS:C1842036 Unspecified -Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref ICD10:D22.9 Unspecified -Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref MedDRA:10072036 Unspecified -Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref OMIM:137550 Unspecified -Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref UMLS:C1318558 Unspecified -Orphanet:626 Large congenital melanocytic nevus skos:exactMatch UMLS:C1318558 Unspecified -Orphanet:626 Large congenital melanocytic nevus skos:exactMatch OMIM:137550 Unspecified -Orphanet:626 Large congenital melanocytic nevus skos:exactMatch MedDRA:10072036 Unspecified -Orphanet:626 Large congenital melanocytic nevus skos:exactMatch UMLS:C1842036 Unspecified -Orphanet:626 Large congenital melanocytic nevus skos:broadMatch ICD10:D22.9 Unspecified -Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref UMLS:C0220726 Unspecified -Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref ICD10:Q77.5 Unspecified -Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref OMIM:222600 Unspecified -Orphanet:628 Diastrophic dysplasia skos:exactMatch OMIM:222600 Unspecified -Orphanet:628 Diastrophic dysplasia skos:exactMatch ICD10:Q77.5 Unspecified -Orphanet:628 Diastrophic dysplasia skos:exactMatch UMLS:C0220726 Unspecified -Orphanet:210576 Congenital temporomandibular joint ankylosis oboInOwl:hasDbXref ICD10:K07.6 Unspecified -Orphanet:210576 Congenital temporomandibular joint ankylosis skos:broadMatch ICD10:K07.6 Unspecified -Orphanet:213600 Adenosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 Unspecified -Orphanet:213600 Adenosarcoma of the corpus uteri skos:broadMatch ICD10:C54.2 Unspecified -Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome oboInOwl:hasDbXref OMIM:613672 Unspecified -Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome skos:exactMatch OMIM:613672 Unspecified -Orphanet:538958 Combined immunodeficiency due to CD70 deficiency oboInOwl:hasDbXref OMIM:618261 Unspecified -Orphanet:538958 Combined immunodeficiency due to CD70 deficiency oboInOwl:hasDbXref ICD10:D82.3 Unspecified -Orphanet:538958 Combined immunodeficiency due to CD70 deficiency skos:broadMatch ICD10:D82.3 Unspecified -Orphanet:538958 Combined immunodeficiency due to CD70 deficiency skos:exactMatch OMIM:618261 Unspecified -Orphanet:610 Bethlem myopathy oboInOwl:hasDbXref OMIM:616471 Unspecified -Orphanet:610 Bethlem myopathy oboInOwl:hasDbXref OMIM:158810 Unspecified -Orphanet:610 Bethlem myopathy oboInOwl:hasDbXref UMLS:C1834674 Unspecified -Orphanet:610 Bethlem myopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:610 Bethlem myopathy oboInOwl:hasDbXref MESH:C535436 Unspecified -Orphanet:610 Bethlem myopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:610 Bethlem myopathy skos:exactMatch MESH:C535436 Unspecified -Orphanet:610 Bethlem myopathy skos:exactMatch UMLS:C1834674 Unspecified -Orphanet:610 Bethlem myopathy skos:narrowMatch OMIM:616471 Unspecified -Orphanet:610 Bethlem myopathy skos:exactMatch OMIM:158810 Unspecified -Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref ICD10:M60.8 Unspecified -Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref UMLS:C0751713 Unspecified -Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref MedDRA:10066407 Unspecified -Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref OMIM:147421 Unspecified -Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref UMLS:C0238190 Unspecified -Orphanet:611 Inclusion body myositis skos:exactMatch UMLS:C0238190 Unspecified -Orphanet:611 Inclusion body myositis skos:exactMatch MedDRA:10066407 Unspecified -Orphanet:611 Inclusion body myositis skos:broadMatch ICD10:M60.8 Unspecified -Orphanet:611 Inclusion body myositis skos:exactMatch OMIM:147421 Unspecified -Orphanet:611 Inclusion body myositis skos:exactMatch UMLS:C0751713 Unspecified -Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref ICD10:G71.1 Unspecified -Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref OMIM:160800 Unspecified -Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref UMLS:C0027127 Unspecified -Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref OMIM:255700 Unspecified -Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref MedDRA:10043461 Unspecified -Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref UMLS:C2936781 Unspecified -Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref MedDRA:10028655 Unspecified -Orphanet:614 Thomsen and Becker disease skos:exactMatch UMLS:C2936781 Unspecified -Orphanet:614 Thomsen and Becker disease skos:exactMatch MedDRA:10028655 Unspecified -Orphanet:614 Thomsen and Becker disease skos:exactMatch MedDRA:10043461 Unspecified -Orphanet:614 Thomsen and Becker disease skos:exactMatch UMLS:C0027127 Unspecified -Orphanet:614 Thomsen and Becker disease skos:narrowMatch OMIM:255700 Unspecified -Orphanet:614 Thomsen and Becker disease skos:broadMatch ICD10:G71.1 Unspecified -Orphanet:614 Thomsen and Becker disease skos:narrowMatch OMIM:160800 Unspecified -Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref OMIM:607907 Unspecified -Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref MedDRA:10057070 Unspecified -Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref UMLS:C0392784 Unspecified -Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref MESH:C538219 Unspecified -Orphanet:31112 Dermatofibrosarcoma protuberans skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:31112 Dermatofibrosarcoma protuberans skos:exactMatch MedDRA:10057070 Unspecified -Orphanet:31112 Dermatofibrosarcoma protuberans skos:exactMatch OMIM:607907 Unspecified -Orphanet:31112 Dermatofibrosarcoma protuberans skos:exactMatch UMLS:C0392784 Unspecified -Orphanet:31112 Dermatofibrosarcoma protuberans skos:exactMatch MESH:C538219 Unspecified -Orphanet:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref ICD10:D58.2 Unspecified -Orphanet:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref OMIM:613977 Unspecified -Orphanet:280615 Hemoglobinopathy Toms River skos:broadMatch OMIM:613977 Unspecified -Orphanet:280615 Hemoglobinopathy Toms River skos:broadMatch ICD10:D58.2 Unspecified -Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref OMIM:256450 Unspecified -Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:broadMatch OMIM:256450 Unspecified -Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:616 Medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 Unspecified -Orphanet:616 Medulloblastoma oboInOwl:hasDbXref MESH:D008527 Unspecified -Orphanet:616 Medulloblastoma oboInOwl:hasDbXref OMIM:155255 Unspecified -Orphanet:616 Medulloblastoma oboInOwl:hasDbXref MedDRA:10027107 Unspecified -Orphanet:616 Medulloblastoma oboInOwl:hasDbXref UMLS:C0025149 Unspecified -Orphanet:616 Medulloblastoma skos:exactMatch UMLS:C0025149 Unspecified -Orphanet:616 Medulloblastoma skos:exactMatch OMIM:155255 Unspecified -Orphanet:616 Medulloblastoma skos:exactMatch MedDRA:10027107 Unspecified -Orphanet:616 Medulloblastoma skos:exactMatch MESH:D008527 Unspecified -Orphanet:616 Medulloblastoma skos:broadMatch ICD10:C71.6 Unspecified -Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref UMLS:C1850635 Unspecified -Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref ICD10:D15.1 Unspecified -Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref MESH:C538262 Unspecified -Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref OMIM:255960 Unspecified -Orphanet:615 Familial atrial myxoma skos:broadMatch ICD10:D15.1 Unspecified -Orphanet:615 Familial atrial myxoma skos:exactMatch OMIM:255960 Unspecified -Orphanet:615 Familial atrial myxoma skos:exactMatch MESH:C538262 Unspecified -Orphanet:615 Familial atrial myxoma skos:exactMatch UMLS:C1850635 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:155600 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref UMLS:C2314896 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:609048 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.8 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.6 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.4 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.2 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.0 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:155601 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:613099 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:615848 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:615134 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:608035 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.7 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.5 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.3 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.1 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:155700 Unspecified -Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:613972 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch ICD10:C43.0 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch ICD10:C43.2 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch ICD10:C43.4 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch ICD10:C43.6 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch ICD10:C43.8 Unspecified -Orphanet:618 Familial melanoma skos:broadMatch OMIM:155600 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch OMIM:609048 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch OMIM:155700 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch OMIM:615134 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch ICD10:C43.1 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch ICD10:C43.3 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch ICD10:C43.5 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch ICD10:C43.7 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch OMIM:608035 Unspecified -Orphanet:618 Familial melanoma skos:exactMatch UMLS:C2314896 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch OMIM:613972 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch OMIM:613099 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch OMIM:155601 Unspecified -Orphanet:618 Familial melanoma skos:narrowMatch OMIM:615848 Unspecified -Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref OMIM:613507 Unspecified -Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency skos:exactMatch OMIM:613507 Unspecified -Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref MedDRA:10053712 Unspecified -Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref MESH:D017593 Unspecified -Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref OMIM:148840 Unspecified -Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref UMLS:C0206085 Unspecified -Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref ICD10:G47.8 Unspecified -Orphanet:33543 Kleine-Levin syndrome skos:broadMatch ICD10:G47.8 Unspecified -Orphanet:33543 Kleine-Levin syndrome skos:exactMatch OMIM:148840 Unspecified -Orphanet:33543 Kleine-Levin syndrome skos:exactMatch UMLS:C0206085 Unspecified -Orphanet:33543 Kleine-Levin syndrome skos:exactMatch MESH:D017593 Unspecified -Orphanet:33543 Kleine-Levin syndrome skos:exactMatch MedDRA:10053712 Unspecified -Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213828 Adenoid basal carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:213828 Adenoid basal carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:213828 Adenoid basal carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:1598 Monosomy 18p oboInOwl:hasDbXref ICD10:Q93.5 Unspecified -Orphanet:1598 Monosomy 18p oboInOwl:hasDbXref UMLS:C0432442 Unspecified -Orphanet:1598 Monosomy 18p oboInOwl:hasDbXref OMIM:146390 Unspecified -Orphanet:1598 Monosomy 18p skos:exactMatch OMIM:146390 Unspecified -Orphanet:1598 Monosomy 18p skos:exactMatch UMLS:C0432442 Unspecified -Orphanet:1598 Monosomy 18p skos:broadMatch ICD10:Q93.5 Unspecified -Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:615522 Unspecified -Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome skos:exactMatch OMIM:615522 Unspecified -Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref OMIM:613587 Unspecified -Orphanet:247834 Occult macular dystrophy skos:exactMatch OMIM:613587 Unspecified -Orphanet:247834 Occult macular dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:213817 Papillary carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213817 Papillary carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213817 Papillary carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213817 Papillary carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:213817 Papillary carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:213817 Papillary carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213802 Rhabdomyosarcoma of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:213802 Rhabdomyosarcoma of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:213802 Rhabdomyosarcoma of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213807 Leiomyosarcoma of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:213807 Leiomyosarcoma of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:213807 Leiomyosarcoma of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref ICD10:N04.8 Unspecified -Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref OMIM:614650 Unspecified -Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:exactMatch OMIM:614650 Unspecified -Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:broadMatch ICD10:N04.8 Unspecified -Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref ICD10:M93.2 Unspecified -Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref OMIM:165700 Unspecified -Orphanet:3314 Thiemann disease, familial form skos:exactMatch OMIM:165700 Unspecified -Orphanet:3314 Thiemann disease, familial form skos:broadMatch ICD10:M93.2 Unspecified -Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:614881 Unspecified -Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:616233 Unspecified -Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 skos:broadMatch OMIM:614881 Unspecified -Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref UMLS:C0266573 Unspecified -Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref OMIM:178300 Unspecified -Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref ICD10:Q10.0 Unspecified -Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref OMIM:616219 Unspecified -Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref OMIM:300245 Unspecified -Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref MedDRA:10015996 Unspecified -Orphanet:91411 Congenital ptosis skos:exactMatch MedDRA:10015996 Unspecified -Orphanet:91411 Congenital ptosis skos:exactMatch OMIM:178300 Unspecified -Orphanet:91411 Congenital ptosis skos:exactMatch ICD10:Q10.0 Unspecified -Orphanet:91411 Congenital ptosis skos:narrowMatch OMIM:300245 Unspecified -Orphanet:91411 Congenital ptosis skos:exactMatch UMLS:C0266573 Unspecified -Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref ICD10:Q07.8 Unspecified -Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref MedDRA:10064583 Unspecified -Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref UMLS:C0266521 Unspecified -Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref OMIM:154600 Unspecified -Orphanet:91412 Marcus-Gunn syndrome skos:exactMatch UMLS:C0266521 Unspecified -Orphanet:91412 Marcus-Gunn syndrome skos:exactMatch MedDRA:10064583 Unspecified -Orphanet:91412 Marcus-Gunn syndrome skos:exactMatch OMIM:154600 Unspecified -Orphanet:91412 Marcus-Gunn syndrome skos:broadMatch ICD10:Q07.8 Unspecified -Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.8 Unspecified -Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.0 Unspecified -Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.4 Unspecified -Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.2 Unspecified -Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.5 Unspecified -Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.3 Unspecified -Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.1 Unspecified -Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref MESH:D013920 Unspecified -Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref OMIM:601977 Unspecified -Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref OMIM:187950 Unspecified -Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref UMLS:C0040028 Unspecified -Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref MedDRA:10015493 Unspecified -Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref OMIM:614521 Unspecified -Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref ICD10:D47.3 Unspecified -Orphanet:3318 Essential thrombocythemia skos:broadMatch OMIM:601977 Unspecified -Orphanet:3318 Essential thrombocythemia skos:broadMatch OMIM:187950 Unspecified -Orphanet:3318 Essential thrombocythemia skos:exactMatch ICD10:D47.3 Unspecified -Orphanet:3318 Essential thrombocythemia skos:exactMatch MedDRA:10015493 Unspecified -Orphanet:3318 Essential thrombocythemia skos:exactMatch MESH:D013920 Unspecified -Orphanet:3318 Essential thrombocythemia skos:exactMatch UMLS:C0040028 Unspecified -Orphanet:3318 Essential thrombocythemia skos:broadMatch OMIM:614521 Unspecified -Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref OMIM:601549 Unspecified -Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref ICD10:Q10.6 Unspecified -Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref UMLS:C1863199 Unspecified -Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref OMIM:103420 Unspecified -Orphanet:91416 Isolated congenital alacrima skos:narrowMatch OMIM:601549 Unspecified -Orphanet:91416 Isolated congenital alacrima skos:broadMatch ICD10:Q10.6 Unspecified -Orphanet:91416 Isolated congenital alacrima skos:exactMatch UMLS:C1863199 Unspecified -Orphanet:91416 Isolated congenital alacrima skos:narrowMatch OMIM:103420 Unspecified -Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref ICD10:G90.2 Unspecified -Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref UMLS:C1840475 Unspecified -Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref OMIM:143000 Unspecified -Orphanet:91413 Congenital Horner syndrome skos:exactMatch UMLS:C1840475 Unspecified -Orphanet:91413 Congenital Horner syndrome skos:broadMatch ICD10:G90.2 Unspecified -Orphanet:91413 Congenital Horner syndrome skos:exactMatch OMIM:143000 Unspecified -Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref ICD10:D61.0 Unspecified -Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref MESH:C535982 Unspecified -Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref UMLS:C1327915 Unspecified -Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref OMIM:604498 Unspecified -Orphanet:3319 Congenital amegakaryocytic thrombocytopenia skos:exactMatch OMIM:604498 Unspecified -Orphanet:3319 Congenital amegakaryocytic thrombocytopenia skos:exactMatch MESH:C535982 Unspecified -Orphanet:3319 Congenital amegakaryocytic thrombocytopenia skos:broadMatch ICD10:D61.0 Unspecified -Orphanet:3319 Congenital amegakaryocytic thrombocytopenia skos:exactMatch UMLS:C1327915 Unspecified -Orphanet:324581 Benign Samaritan congenital myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:324581 Benign Samaritan congenital myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref MedDRA:10035040 Unspecified -Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.4 Unspecified -Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.6 Unspecified -Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref OMIM:132600 Unspecified -Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.3 Unspecified -Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref UMLS:C0206711 Unspecified -Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref MESH:D018296 Unspecified -Orphanet:91414 Pilomatrixoma skos:exactMatch UMLS:C0206711 Unspecified -Orphanet:91414 Pilomatrixoma skos:narrowMatch ICD10:D23.4 Unspecified -Orphanet:91414 Pilomatrixoma skos:narrowMatch ICD10:D23.6 Unspecified -Orphanet:91414 Pilomatrixoma skos:exactMatch MESH:D018296 Unspecified -Orphanet:91414 Pilomatrixoma skos:exactMatch OMIM:132600 Unspecified -Orphanet:91414 Pilomatrixoma skos:narrowMatch ICD10:D23.3 Unspecified -Orphanet:91414 Pilomatrixoma skos:exactMatch MedDRA:10035040 Unspecified -Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement oboInOwl:hasDbXref OMIM:618213 Unspecified -Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement skos:exactMatch OMIM:618213 Unspecified -Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref OMIM:606703 Unspecified -Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref ICD10:G51.4 Unspecified -Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref UMLS:C1847627 Unspecified -Orphanet:324588 Familial dyskinesia and facial myokymia skos:broadMatch ICD10:G51.4 Unspecified -Orphanet:324588 Familial dyskinesia and facial myokymia skos:exactMatch UMLS:C1847627 Unspecified -Orphanet:324588 Familial dyskinesia and facial myokymia skos:exactMatch OMIM:606703 Unspecified -Orphanet:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 Unspecified -Orphanet:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref OMIM:155240 Unspecified -Orphanet:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref MESH:C536911 Unspecified -Orphanet:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref UMLS:C1833921 Unspecified -Orphanet:99361 Familial medullary thyroid carcinoma skos:exactMatch MESH:C536911 Unspecified -Orphanet:99361 Familial medullary thyroid carcinoma skos:exactMatch UMLS:C1833921 Unspecified -Orphanet:99361 Familial medullary thyroid carcinoma skos:exactMatch OMIM:155240 Unspecified -Orphanet:99361 Familial medullary thyroid carcinoma skos:broadMatch ICD10:C73 Unspecified -Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref UMLS:C0030328 Unspecified -Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref ICD10:M35.6 Unspecified -Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref MedDRA:10047883 Unspecified -Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref MESH:D010201 Unspecified -Orphanet:33577 Nodular non-suppurative panniculitis skos:exactMatch MESH:D010201 Unspecified -Orphanet:33577 Nodular non-suppurative panniculitis skos:exactMatch MedDRA:10047883 Unspecified -Orphanet:33577 Nodular non-suppurative panniculitis skos:exactMatch ICD10:M35.6 Unspecified -Orphanet:33577 Nodular non-suppurative panniculitis skos:exactMatch UMLS:C0030328 Unspecified -Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref UMLS:C1856603 Unspecified -Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref ICD10:D55.1 Unspecified -Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref OMIM:230450 Unspecified -Orphanet:33574 Glutamate-cysteine ligase deficiency skos:exactMatch OMIM:230450 Unspecified -Orphanet:33574 Glutamate-cysteine ligase deficiency skos:exactMatch UMLS:C1856603 Unspecified -Orphanet:33574 Glutamate-cysteine ligase deficiency skos:broadMatch ICD10:D55.1 Unspecified -Orphanet:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref UMLS:C0268525 Unspecified -Orphanet:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref MESH:C535322 Unspecified -Orphanet:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref OMIM:260005 Unspecified -Orphanet:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:33572 5-oxoprolinase deficiency skos:exactMatch OMIM:260005 Unspecified -Orphanet:33572 5-oxoprolinase deficiency skos:exactMatch MESH:C535322 Unspecified -Orphanet:33572 5-oxoprolinase deficiency skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:33572 5-oxoprolinase deficiency skos:exactMatch UMLS:C0268525 Unspecified -Orphanet:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref ICD10:D68.8 Unspecified -Orphanet:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref UMLS:C2931365 Unspecified -Orphanet:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref MESH:C536900 Unspecified -Orphanet:3324 Familial thrombomodulin anomalies skos:exactMatch UMLS:C2931365 Unspecified -Orphanet:3324 Familial thrombomodulin anomalies skos:exactMatch MESH:C536900 Unspecified -Orphanet:3324 Familial thrombomodulin anomalies skos:broadMatch ICD10:D68.8 Unspecified -Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref MedDRA:10062506 Unspecified -Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref ICD10:D69.5 Unspecified -Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref UMLS:C0272285 Unspecified -Orphanet:3325 Heparin-induced thrombocytopenia skos:exactMatch UMLS:C0272285 Unspecified -Orphanet:3325 Heparin-induced thrombocytopenia skos:broadMatch ICD10:D69.5 Unspecified -Orphanet:3325 Heparin-induced thrombocytopenia skos:exactMatch MedDRA:10062506 Unspecified -Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref OMIM:231950 Unspecified -Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref UMLS:C0268524 Unspecified -Orphanet:33573 Gamma-glutamyl transpeptidase deficiency skos:exactMatch UMLS:C0268524 Unspecified -Orphanet:33573 Gamma-glutamyl transpeptidase deficiency skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:33573 Gamma-glutamyl transpeptidase deficiency skos:exactMatch OMIM:231950 Unspecified -Orphanet:276399 Familial multinodular goiter oboInOwl:hasDbXref OMIM:138800 Unspecified -Orphanet:276399 Familial multinodular goiter oboInOwl:hasDbXref ICD10:E04.2 Unspecified -Orphanet:276399 Familial multinodular goiter skos:exactMatch OMIM:138800 Unspecified -Orphanet:276399 Familial multinodular goiter skos:broadMatch ICD10:E04.2 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref ICD10:D61.0 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:615190 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:616353 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref UMLS:C1846142 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:613990 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:613989 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:616553 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:305000 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref MESH:C536068 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome skos:exactMatch UMLS:C1846142 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome skos:exactMatch MESH:C536068 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:616353 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome skos:broadMatch ICD10:D61.0 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:616553 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome skos:broadMatch OMIM:305000 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:615190 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:613989 Unspecified -Orphanet:3322 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:613990 Unspecified -Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis oboInOwl:hasDbXref OMIM:613710 Unspecified -Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis skos:exactMatch OMIM:613710 Unspecified -Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.5 Unspecified -Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.3 Unspecified -Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.1 Unspecified -Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.0 Unspecified -Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.4 Unspecified -Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.2 Unspecified -Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.8 Unspecified -Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref ICD10:E85.0 Unspecified -Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref OMIM:611762 Unspecified -Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref UMLS:C2673198 Unspecified -Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome skos:broadMatch ICD10:E85.0 Unspecified -Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome skos:exactMatch UMLS:C2673198 Unspecified -Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome skos:exactMatch OMIM:611762 Unspecified -Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.8 Unspecified -Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.2 Unspecified -Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.4 Unspecified -Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.0 Unspecified -Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.5 Unspecified -Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.1 Unspecified -Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.3 Unspecified -Orphanet:324575 Hyperinsulinism due to HNF1A deficiency oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:324575 Hyperinsulinism due to HNF1A deficiency skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref OMIM:168300 Unspecified -Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref UMLS:C1868617 Unspecified -Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref UMLS:C0221055 Unspecified -Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref MESH:C538616 Unspecified -Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref ICD10:G71.1 Unspecified -Orphanet:684 Paramyotonia congenita of Von Eulenburg skos:exactMatch UMLS:C0221055 Unspecified -Orphanet:684 Paramyotonia congenita of Von Eulenburg skos:exactMatch MESH:C538616 Unspecified -Orphanet:684 Paramyotonia congenita of Von Eulenburg skos:exactMatch UMLS:C1868617 Unspecified -Orphanet:684 Paramyotonia congenita of Von Eulenburg skos:broadMatch ICD10:G71.1 Unspecified -Orphanet:684 Paramyotonia congenita of Von Eulenburg skos:exactMatch OMIM:168300 Unspecified -Orphanet:2884 Piebaldism oboInOwl:hasDbXref OMIM:172800 Unspecified -Orphanet:2884 Piebaldism oboInOwl:hasDbXref UMLS:C0080024 Unspecified -Orphanet:2884 Piebaldism oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:2884 Piebaldism oboInOwl:hasDbXref MESH:D016116 Unspecified -Orphanet:2884 Piebaldism skos:exactMatch MESH:D016116 Unspecified -Orphanet:2884 Piebaldism skos:exactMatch UMLS:C0080024 Unspecified -Orphanet:2884 Piebaldism skos:exactMatch OMIM:172800 Unspecified -Orphanet:2884 Piebaldism skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref UMLS:C1852576 Unspecified -Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref MESH:C535468 Unspecified -Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref OMIM:121270 Unspecified -Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref ICD10:E83.0 Unspecified -Orphanet:1551 Familial benign copper deficiency skos:exactMatch OMIM:121270 Unspecified -Orphanet:1551 Familial benign copper deficiency skos:broadMatch ICD10:E83.0 Unspecified -Orphanet:1551 Familial benign copper deficiency skos:exactMatch MESH:C535468 Unspecified -Orphanet:1551 Familial benign copper deficiency skos:exactMatch UMLS:C1852576 Unspecified -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref MESH:C536654 Unspecified -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref ICD10:E74.4 Unspecified -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref OMIM:261680 Unspecified -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref UMLS:C0268194 Unspecified -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref OMIM:261650 Unspecified -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency skos:narrowMatch OMIM:261680 Unspecified -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch UMLS:C0268194 Unspecified -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency skos:broadMatch ICD10:E74.4 Unspecified -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch MESH:C536654 Unspecified -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency skos:narrowMatch OMIM:261650 Unspecified -Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:613345 Unspecified -Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:170400 Unspecified -Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238357 Unspecified -Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 Unspecified -Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref MESH:D020514 Unspecified -Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238358 Unspecified -Orphanet:681 Hypokalemic periodic paralysis skos:exactMatch UMLS:C0238357 Unspecified -Orphanet:681 Hypokalemic periodic paralysis skos:exactMatch OMIM:170400 Unspecified -Orphanet:681 Hypokalemic periodic paralysis skos:exactMatch UMLS:C0238358 Unspecified -Orphanet:681 Hypokalemic periodic paralysis skos:exactMatch MESH:D020514 Unspecified -Orphanet:681 Hypokalemic periodic paralysis skos:broadMatch ICD10:G72.3 Unspecified -Orphanet:681 Hypokalemic periodic paralysis skos:narrowMatch OMIM:613345 Unspecified -Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref ICD10:L57.8 Unspecified -Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref MESH:C536224 Unspecified -Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref OMIM:219095 Unspecified -Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref UMLS:C1857449 Unspecified -Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch MESH:C536224 Unspecified -Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch UMLS:C1857449 Unspecified -Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch OMIM:219095 Unspecified -Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome skos:broadMatch ICD10:L57.8 Unspecified -Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref MedDRA:10036813 Unspecified -Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:260540 Unspecified -Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref UMLS:C0038868 Unspecified -Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:601104 Unspecified -Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:610898 Unspecified -Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:609454 Unspecified -Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref MESH:D013494 Unspecified -Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref ICD10:G23.1 Unspecified -Orphanet:683 Progressive supranuclear palsy skos:exactMatch ICD10:G23.1 Unspecified -Orphanet:683 Progressive supranuclear palsy skos:narrowMatch OMIM:601104 Unspecified -Orphanet:683 Progressive supranuclear palsy skos:exactMatch MESH:D013494 Unspecified -Orphanet:683 Progressive supranuclear palsy skos:narrowMatch OMIM:609454 Unspecified -Orphanet:683 Progressive supranuclear palsy skos:narrowMatch OMIM:610898 Unspecified -Orphanet:683 Progressive supranuclear palsy skos:exactMatch UMLS:C0038868 Unspecified -Orphanet:683 Progressive supranuclear palsy skos:narrowMatch OMIM:260540 Unspecified -Orphanet:683 Progressive supranuclear palsy skos:exactMatch MedDRA:10036813 Unspecified -Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref OMIM:210250 Unspecified -Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref ICD10:E78.0 Unspecified -Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref MESH:C537345 Unspecified -Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref UMLS:C0342907 Unspecified -Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref OMIM:618666 Unspecified -Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref MedDRA:10063985 Unspecified -Orphanet:2882 Sitosterolemia skos:exactMatch MESH:C537345 Unspecified -Orphanet:2882 Sitosterolemia skos:exactMatch MedDRA:10063985 Unspecified -Orphanet:2882 Sitosterolemia skos:exactMatch UMLS:C0342907 Unspecified -Orphanet:2882 Sitosterolemia skos:exactMatch OMIM:210250 Unspecified -Orphanet:2882 Sitosterolemia skos:narrowMatch OMIM:618666 Unspecified -Orphanet:2882 Sitosterolemia skos:broadMatch ICD10:E78.0 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref OMIM:170500 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238357 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref MESH:C535409 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref UMLS:C2930895 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref MESH:D020513 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis skos:exactMatch MESH:D020513 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis skos:exactMatch UMLS:C0238357 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis skos:exactMatch MESH:C535409 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis skos:exactMatch UMLS:C2930895 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis skos:broadMatch ICD10:G72.3 Unspecified -Orphanet:682 Hyperkalemic periodic paralysis skos:exactMatch OMIM:170500 Unspecified -Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref OMIM:132090 Unspecified -Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref UMLS:C1851549 Unspecified -Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref ICD10:G40.0 Unspecified -Orphanet:25968 Benign occipital epilepsy skos:broadMatch ICD10:G40.0 Unspecified -Orphanet:25968 Benign occipital epilepsy skos:exactMatch OMIM:132090 Unspecified -Orphanet:25968 Benign occipital epilepsy skos:exactMatch UMLS:C1851549 Unspecified -Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref OMIM:243700 Unspecified -Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref ICD10:D81.1 Unspecified -Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency skos:broadMatch ICD10:D81.1 Unspecified -Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency skos:exactMatch OMIM:243700 Unspecified -Orphanet:521305 Proximal myopathy with focal depletion of mitochondria oboInOwl:hasDbXref ICD10:G72.8 Unspecified -Orphanet:521305 Proximal myopathy with focal depletion of mitochondria oboInOwl:hasDbXref OMIM:600706 Unspecified -Orphanet:521305 Proximal myopathy with focal depletion of mitochondria skos:exactMatch OMIM:600706 Unspecified -Orphanet:521305 Proximal myopathy with focal depletion of mitochondria skos:broadMatch ICD10:G72.8 Unspecified -Orphanet:2889 Pili torti oboInOwl:hasDbXref UMLS:C0263491 Unspecified -Orphanet:2889 Pili torti oboInOwl:hasDbXref ICD10:Q84.1 Unspecified -Orphanet:2889 Pili torti oboInOwl:hasDbXref OMIM:261900 Unspecified -Orphanet:2889 Pili torti skos:exactMatch OMIM:261900 Unspecified -Orphanet:2889 Pili torti skos:broadMatch ICD10:Q84.1 Unspecified -Orphanet:2889 Pili torti skos:exactMatch UMLS:C0263491 Unspecified -Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref ICD10:C75.3 Unspecified -Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref MedDRA:10050487 Unspecified -Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref UMLS:C0205898 Unspecified -Orphanet:251909 Pineoblastoma skos:exactMatch MedDRA:10050487 Unspecified -Orphanet:251909 Pineoblastoma skos:broadMatch ICD10:C75.3 Unspecified -Orphanet:251909 Pineoblastoma skos:exactMatch UMLS:C0205898 Unspecified -Orphanet:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref MedDRA:10048853 Unspecified -Orphanet:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref UMLS:C0262401 Unspecified -Orphanet:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref ICD10:C24.1 Unspecified -Orphanet:300557 Carcinoma of the ampulla of Vater skos:exactMatch UMLS:C0262401 Unspecified -Orphanet:300557 Carcinoma of the ampulla of Vater skos:broadMatch ICD10:C24.1 Unspecified -Orphanet:300557 Carcinoma of the ampulla of Vater skos:exactMatch MedDRA:10048853 Unspecified -Orphanet:324525 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:324525 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 oboInOwl:hasDbXref OMIM:617017 Unspecified -Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:broadMatch OMIM:617017 Unspecified -Orphanet:251902 Atypical papilloma of choroid plexus oboInOwl:hasDbXref ICD10:C71.5 Unspecified -Orphanet:251902 Atypical papilloma of choroid plexus oboInOwl:hasDbXref UMLS:C1266176 Unspecified -Orphanet:251902 Atypical papilloma of choroid plexus skos:exactMatch UMLS:C1266176 Unspecified -Orphanet:251902 Atypical papilloma of choroid plexus skos:broadMatch ICD10:C71.5 Unspecified -Orphanet:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref OMIM:617017 Unspecified -Orphanet:497764 Spinocerebellar ataxia type 43 skos:broadMatch OMIM:617017 Unspecified -Orphanet:497764 Spinocerebellar ataxia type 43 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref OMIM:611162 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.9 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.9 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.0 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.8 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref MESH:D008288 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.8 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.0 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref UMLS:C0024530 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B54 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.8 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.0 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.8 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.0 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.1 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref MedDRA:10025487 Unspecified -Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.9 Unspecified -Orphanet:673 Malaria skos:exactMatch MedDRA:10025487 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B51.9 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B53.1 Unspecified -Orphanet:673 Malaria skos:exactMatch UMLS:C0024530 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B52.8 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B52.0 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B54 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B50.8 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B50.0 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B51.8 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B51.0 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B53.8 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B53.0 Unspecified -Orphanet:673 Malaria skos:exactMatch OMIM:611162 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B52.9 Unspecified -Orphanet:673 Malaria skos:narrowMatch ICD10:B50.9 Unspecified -Orphanet:673 Malaria skos:exactMatch MESH:D008288 Unspecified -Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref UMLS:C0341474 Unspecified -Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref ICD10:K86.1 Unspecified -Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref UMLS:C0238339 Unspecified -Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref OMIM:167800 Unspecified -Orphanet:676 Hereditary chronic pancreatitis skos:exactMatch OMIM:167800 Unspecified -Orphanet:676 Hereditary chronic pancreatitis skos:exactMatch UMLS:C0238339 Unspecified -Orphanet:676 Hereditary chronic pancreatitis skos:broadMatch ICD10:K86.1 Unspecified -Orphanet:676 Hereditary chronic pancreatitis skos:exactMatch UMLS:C0341474 Unspecified -Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref MESH:D010214 Unspecified -Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref OMIM:245000 Unspecified -Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref UMLS:C0030360 Unspecified -Orphanet:678 Papillon-Lefèvre syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:678 Papillon-Lefèvre syndrome skos:exactMatch MESH:D010214 Unspecified -Orphanet:678 Papillon-Lefèvre syndrome skos:exactMatch OMIM:245000 Unspecified -Orphanet:678 Papillon-Lefèvre syndrome skos:exactMatch UMLS:C0030360 Unspecified -Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref UMLS:C0334489 Unspecified -Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref ICD10:C25.1 Unspecified -Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref MESH:C537162 Unspecified -Orphanet:677 Pancreatoblastoma skos:exactMatch MESH:C537162 Unspecified -Orphanet:677 Pancreatoblastoma skos:broadMatch ICD10:C25.1 Unspecified -Orphanet:677 Pancreatoblastoma skos:exactMatch UMLS:C0334489 Unspecified -Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref OMIM:602248 Unspecified -Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref ICD10:I77.8 Unspecified -Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref MESH:D054853 Unspecified -Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref MedDRA:10064281 Unspecified -Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref UMLS:C0221011 Unspecified -Orphanet:679 Malignant atrophic papulosis skos:broadMatch ICD10:I77.8 Unspecified -Orphanet:679 Malignant atrophic papulosis skos:exactMatch UMLS:C0221011 Unspecified -Orphanet:679 Malignant atrophic papulosis skos:exactMatch MedDRA:10064281 Unspecified -Orphanet:679 Malignant atrophic papulosis skos:exactMatch MESH:D054853 Unspecified -Orphanet:679 Malignant atrophic papulosis skos:exactMatch OMIM:602248 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:616500 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref UMLS:C1858424 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:616501 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:615119 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:604377 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:604377 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:615119 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:616501 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency skos:exactMatch UMLS:C1858424 Unspecified -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:616500 Unspecified -Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref MESH:D010916 Unspecified -Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref MedDRA:10035116 Unspecified -Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref UMLS:C0032027 Unspecified -Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref ICD10:L44.0 Unspecified -Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref OMIM:173200 Unspecified -Orphanet:2897 Pityriasis rubra pilaris skos:exactMatch OMIM:173200 Unspecified -Orphanet:2897 Pityriasis rubra pilaris skos:exactMatch ICD10:L44.0 Unspecified -Orphanet:2897 Pityriasis rubra pilaris skos:exactMatch MESH:D010916 Unspecified -Orphanet:2897 Pityriasis rubra pilaris skos:exactMatch UMLS:C0032027 Unspecified -Orphanet:2897 Pityriasis rubra pilaris skos:exactMatch MedDRA:10035116 Unspecified -Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.0 Unspecified -Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.8 Unspecified -Orphanet:1560 Cysticercosis oboInOwl:hasDbXref UMLS:C0010678 Unspecified -Orphanet:1560 Cysticercosis oboInOwl:hasDbXref MESH:D003551 Unspecified -Orphanet:1560 Cysticercosis oboInOwl:hasDbXref MedDRA:10011775 Unspecified -Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.9 Unspecified -Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.1 Unspecified -Orphanet:1560 Cysticercosis skos:exactMatch MESH:D003551 Unspecified -Orphanet:1560 Cysticercosis skos:exactMatch MedDRA:10011775 Unspecified -Orphanet:1560 Cysticercosis skos:narrowMatch ICD10:B69.0 Unspecified -Orphanet:1560 Cysticercosis skos:narrowMatch ICD10:B69.8 Unspecified -Orphanet:1560 Cysticercosis skos:exactMatch UMLS:C0010678 Unspecified -Orphanet:1560 Cysticercosis skos:narrowMatch ICD10:B69.1 Unspecified -Orphanet:1560 Cysticercosis skos:narrowMatch ICD10:B69.9 Unspecified -Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref OMIM:613068 Unspecified -Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref UMLS:C2751584 Unspecified -Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch UMLS:C2751584 Unspecified -Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch OMIM:613068 Unspecified -Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref ICD10:I88.1 Unspecified -Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref UMLS:C0398367 Unspecified -Orphanet:50918 Kikuchi-Fujimoto disease skos:exactMatch UMLS:C0398367 Unspecified -Orphanet:50918 Kikuchi-Fujimoto disease skos:broadMatch ICD10:I88.1 Unspecified -Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref UMLS:C0432209 Unspecified -Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref MESH:C537999 Unspecified -Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref OMIM:224400 Unspecified -Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch OMIM:224400 Unspecified -Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch UMLS:C0432209 Unspecified -Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch MESH:C537999 Unspecified -Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome oboInOwl:hasDbXref ICD10:J84.1 Unspecified -Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome skos:broadMatch ICD10:J84.1 Unspecified -Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref UMLS:C1837481 Unspecified -Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref OMIM:608728 Unspecified -Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch OMIM:608728 Unspecified -Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch UMLS:C1837481 Unspecified -Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref UMLS:C2931230 Unspecified -Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref OMIM:310440 Unspecified -Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref UMLS:C1839615 Unspecified -Orphanet:25980 X-linked myopathy with excessive autophagy skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:25980 X-linked myopathy with excessive autophagy skos:exactMatch UMLS:C1839615 Unspecified -Orphanet:25980 X-linked myopathy with excessive autophagy skos:exactMatch OMIM:310440 Unspecified -Orphanet:25980 X-linked myopathy with excessive autophagy skos:exactMatch UMLS:C2931230 Unspecified -Orphanet:319199 Autosomal recessive spastic paraplegia type 53 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:319199 Autosomal recessive spastic paraplegia type 53 oboInOwl:hasDbXref OMIM:614898 Unspecified -Orphanet:319199 Autosomal recessive spastic paraplegia type 53 skos:exactMatch OMIM:614898 Unspecified -Orphanet:319199 Autosomal recessive spastic paraplegia type 53 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:614699 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613494 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613496 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.1 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.9 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:607594 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:615577 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:240500 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:616576 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613493 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613495 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.0 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.2 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref MESH:D017074 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.8 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref UMLS:C0009447 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref MedDRA:10021449 Unspecified -Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:146830 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch OMIM:615577 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch OMIM:240500 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:exactMatch UMLS:C0009447 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:exactMatch MESH:D017074 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch OMIM:613494 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch OMIM:614699 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch OMIM:613496 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch OMIM:616576 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:exactMatch MedDRA:10021449 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch ICD10:D83.1 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch ICD10:D83.9 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch OMIM:146830 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:exactMatch OMIM:607594 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch OMIM:613495 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch OMIM:613493 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch ICD10:D83.0 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch ICD10:D83.8 Unspecified -Orphanet:1572 Common variable immunodeficiency skos:narrowMatch ICD10:D83.2 Unspecified -Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref OMIM:613070 Unspecified -Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch OMIM:613070 Unspecified -Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref OMIM:601152 Unspecified -Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref OMIM:616505 Unspecified -Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref UMLS:C0393807 Unspecified -Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:90120 Hereditary motor and sensory neuropathy type 6 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:90120 Hereditary motor and sensory neuropathy type 6 skos:exactMatch OMIM:601152 Unspecified -Orphanet:90120 Hereditary motor and sensory neuropathy type 6 skos:narrowMatch OMIM:616505 Unspecified -Orphanet:90120 Hereditary motor and sensory neuropathy type 6 skos:exactMatch UMLS:C0393807 Unspecified -Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation oboInOwl:hasDbXref ICD10:Q04.3 Unspecified -Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation oboInOwl:hasDbXref OMIM:614039 Unspecified -Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation skos:broadMatch ICD10:Q04.3 Unspecified -Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation skos:exactMatch OMIM:614039 Unspecified -Orphanet:251927 Extraventricular neurocytoma oboInOwl:hasDbXref ICD10:C72.9 Unspecified -Orphanet:251927 Extraventricular neurocytoma skos:broadMatch ICD10:C72.9 Unspecified -Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref MESH:C536155 Unspecified -Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref OMIM:148370 Unspecified -Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref UMLS:C0406756 Unspecified -Orphanet:50943 Keratolytic winter erythema skos:exactMatch UMLS:C0406756 Unspecified -Orphanet:50943 Keratolytic winter erythema skos:exactMatch OMIM:148370 Unspecified -Orphanet:50943 Keratolytic winter erythema skos:exactMatch MESH:C536155 Unspecified -Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:607654 Unspecified -Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:612908 Unspecified -Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:148700 Unspecified -Orphanet:50942 Striate palmoplantar keratoderma skos:narrowMatch OMIM:607654 Unspecified -Orphanet:50942 Striate palmoplantar keratoderma skos:broadMatch OMIM:148700 Unspecified -Orphanet:50942 Striate palmoplantar keratoderma skos:narrowMatch OMIM:612908 Unspecified -Orphanet:50942 Striate palmoplantar keratoderma skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:300576 Oligodontia-cancer predisposition syndrome oboInOwl:hasDbXref OMIM:608615 Unspecified -Orphanet:300576 Oligodontia-cancer predisposition syndrome oboInOwl:hasDbXref ICD10:C19 Unspecified -Orphanet:300576 Oligodontia-cancer predisposition syndrome oboInOwl:hasDbXref UMLS:C1837750 Unspecified -Orphanet:300576 Oligodontia-cancer predisposition syndrome skos:broadMatch ICD10:C19 Unspecified -Orphanet:300576 Oligodontia-cancer predisposition syndrome skos:exactMatch UMLS:C1837750 Unspecified -Orphanet:300576 Oligodontia-cancer predisposition syndrome skos:exactMatch OMIM:608615 Unspecified -Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref UMLS:C1857069 Unspecified -Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref OMIM:224750 Unspecified -Orphanet:50944 Schöpf-Schulz-Passarge syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:50944 Schöpf-Schulz-Passarge syndrome skos:exactMatch UMLS:C1857069 Unspecified -Orphanet:50944 Schöpf-Schulz-Passarge syndrome skos:exactMatch OMIM:224750 Unspecified -Orphanet:699 Pearson syndrome oboInOwl:hasDbXref UMLS:C0342773 Unspecified -Orphanet:699 Pearson syndrome oboInOwl:hasDbXref UMLS:C0342784 Unspecified -Orphanet:699 Pearson syndrome oboInOwl:hasDbXref MedDRA:10062941 Unspecified -Orphanet:699 Pearson syndrome oboInOwl:hasDbXref OMIM:557000 Unspecified -Orphanet:699 Pearson syndrome oboInOwl:hasDbXref ICD10:D64.0 Unspecified -Orphanet:699 Pearson syndrome skos:broadMatch ICD10:D64.0 Unspecified -Orphanet:699 Pearson syndrome skos:exactMatch OMIM:557000 Unspecified -Orphanet:699 Pearson syndrome skos:exactMatch UMLS:C0342773 Unspecified -Orphanet:699 Pearson syndrome skos:exactMatch UMLS:C0342784 Unspecified -Orphanet:699 Pearson syndrome skos:exactMatch MedDRA:10062941 Unspecified -Orphanet:319189 Familial cortical myoclonus oboInOwl:hasDbXref OMIM:614937 Unspecified -Orphanet:319189 Familial cortical myoclonus oboInOwl:hasDbXref ICD10:G25.3 Unspecified -Orphanet:319189 Familial cortical myoclonus skos:exactMatch OMIM:614937 Unspecified -Orphanet:319189 Familial cortical myoclonus skos:broadMatch ICD10:G25.3 Unspecified -Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref UMLS:C2985219 Unspecified -Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref ICD10:D44.5 Unspecified -Orphanet:251915 Papillary tumor of the pineal region skos:broadMatch ICD10:D44.5 Unspecified -Orphanet:251915 Papillary tumor of the pineal region skos:exactMatch UMLS:C2985219 Unspecified -Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation oboInOwl:hasDbXref OMIM:614878 Unspecified -Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch OMIM:614878 Unspecified -Orphanet:251919 Pineal parenchymal tumor of intermediate differenciation oboInOwl:hasDbXref ICD10:D44.5 Unspecified -Orphanet:251919 Pineal parenchymal tumor of intermediate differenciation skos:broadMatch ICD10:D44.5 Unspecified -Orphanet:319195 Chondroectodermal dysplasia with night blindness oboInOwl:hasDbXref ICD10:Q77.6 Unspecified -Orphanet:319195 Chondroectodermal dysplasia with night blindness skos:broadMatch ICD10:Q77.6 Unspecified -Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref OMIM:604484 Unspecified -Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref UMLS:C1858338 Unspecified -Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref MESH:C535717 Unspecified -Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch OMIM:604484 Unspecified -Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch MESH:C535717 Unspecified -Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch UMLS:C1858338 Unspecified -Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:324535 Combined oxidative phosphorylation defect type 11 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:324535 Combined oxidative phosphorylation defect type 11 oboInOwl:hasDbXref OMIM:614922 Unspecified -Orphanet:324535 Combined oxidative phosphorylation defect type 11 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:324535 Combined oxidative phosphorylation defect type 11 skos:exactMatch OMIM:614922 Unspecified -Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:251912 Pineocytoma oboInOwl:hasDbXref UMLS:C0917890 Unspecified -Orphanet:251912 Pineocytoma oboInOwl:hasDbXref ICD10:D44.5 Unspecified -Orphanet:251912 Pineocytoma oboInOwl:hasDbXref MedDRA:10035059 Unspecified -Orphanet:251912 Pineocytoma skos:exactMatch MedDRA:10035059 Unspecified -Orphanet:251912 Pineocytoma skos:broadMatch ICD10:D44.5 Unspecified -Orphanet:251912 Pineocytoma skos:exactMatch UMLS:C0917890 Unspecified -Orphanet:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref OMIM:144755 Unspecified -Orphanet:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref UMLS:C1840404 Unspecified -Orphanet:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref ICD10:M85.2 Unspecified -Orphanet:443098 Hyperostosis cranialis interna skos:exactMatch UMLS:C1840404 Unspecified -Orphanet:443098 Hyperostosis cranialis interna skos:broadMatch ICD10:M85.2 Unspecified -Orphanet:443098 Hyperostosis cranialis interna skos:exactMatch OMIM:144755 Unspecified -Orphanet:86911 Epilepsy with myoclonic absences oboInOwl:hasDbXref UMLS:C0393703 Unspecified -Orphanet:86911 Epilepsy with myoclonic absences oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:86911 Epilepsy with myoclonic absences skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:86911 Epilepsy with myoclonic absences skos:exactMatch UMLS:C0393703 Unspecified -Orphanet:166113 Bazex syndrome oboInOwl:hasDbXref UMLS:C0346104 Unspecified -Orphanet:166113 Bazex syndrome oboInOwl:hasDbXref UMLS:C0406355 Unspecified -Orphanet:166113 Bazex syndrome skos:exactMatch UMLS:C0406355 Unspecified -Orphanet:166113 Bazex syndrome skos:exactMatch UMLS:C0346104 Unspecified -Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref ICD10:C34.9 Unspecified -Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref UMLS:C0149925 Unspecified -Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref OMIM:182280 Unspecified -Orphanet:70573 Small cell lung cancer skos:exactMatch OMIM:182280 Unspecified -Orphanet:70573 Small cell lung cancer skos:exactMatch UMLS:C0149925 Unspecified -Orphanet:70573 Small cell lung cancer skos:broadMatch ICD10:C34.9 Unspecified -Orphanet:538101 Congenital axonal neuropathy with encephalopathy oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:538101 Congenital axonal neuropathy with encephalopathy skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:2045 FLOTCH syndrome oboInOwl:hasDbXref MESH:C537065 Unspecified -Orphanet:2045 FLOTCH syndrome oboInOwl:hasDbXref UMLS:C2931411 Unspecified -Orphanet:2045 FLOTCH syndrome oboInOwl:hasDbXref ICD10:L60.8 Unspecified -Orphanet:2045 FLOTCH syndrome skos:exactMatch UMLS:C2931411 Unspecified -Orphanet:2045 FLOTCH syndrome skos:exactMatch MESH:C537065 Unspecified -Orphanet:2045 FLOTCH syndrome skos:broadMatch ICD10:L60.8 Unspecified -Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:90186 Meige disease oboInOwl:hasDbXref UMLS:C0025183 Unspecified -Orphanet:90186 Meige disease oboInOwl:hasDbXref MedDRA:10027138 Unspecified -Orphanet:90186 Meige disease oboInOwl:hasDbXref UMLS:C1704425 Unspecified -Orphanet:90186 Meige disease oboInOwl:hasDbXref OMIM:153200 Unspecified -Orphanet:90186 Meige disease oboInOwl:hasDbXref MESH:D008538 Unspecified -Orphanet:90186 Meige disease oboInOwl:hasDbXref UMLS:C0238261 Unspecified -Orphanet:90186 Meige disease oboInOwl:hasDbXref UMLS:C1704424 Unspecified -Orphanet:90186 Meige disease oboInOwl:hasDbXref ICD10:Q82.0 Unspecified -Orphanet:90186 Meige disease skos:exactMatch UMLS:C1704424 Unspecified -Orphanet:90186 Meige disease skos:exactMatch UMLS:C0238261 Unspecified -Orphanet:90186 Meige disease skos:broadMatch ICD10:Q82.0 Unspecified -Orphanet:90186 Meige disease skos:exactMatch OMIM:153200 Unspecified -Orphanet:90186 Meige disease skos:exactMatch UMLS:C1704425 Unspecified -Orphanet:90186 Meige disease skos:exactMatch UMLS:C0025183 Unspecified -Orphanet:90186 Meige disease skos:exactMatch MESH:D008538 Unspecified -Orphanet:90186 Meige disease skos:exactMatch MedDRA:10027138 Unspecified -Orphanet:2047 Flynn-Aird syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:2047 Flynn-Aird syndrome oboInOwl:hasDbXref UMLS:C0343108 Unspecified -Orphanet:2047 Flynn-Aird syndrome oboInOwl:hasDbXref MESH:C537066 Unspecified -Orphanet:2047 Flynn-Aird syndrome oboInOwl:hasDbXref OMIM:136300 Unspecified -Orphanet:2047 Flynn-Aird syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:2047 Flynn-Aird syndrome skos:exactMatch MESH:C537066 Unspecified -Orphanet:2047 Flynn-Aird syndrome skos:exactMatch UMLS:C0343108 Unspecified -Orphanet:2047 Flynn-Aird syndrome skos:exactMatch OMIM:136300 Unspecified -Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref OMIM:148520 Unspecified -Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref UMLS:C1835663 Unspecified -Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch OMIM:148520 Unspecified -Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch UMLS:C1835663 Unspecified -Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref UMLS:C3711389 Unspecified -Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref UMLS:C1834336 Unspecified -Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref OMIM:161800 Unspecified -Orphanet:98904 Congenital myopathy with excess of thin filaments skos:broadMatch OMIM:161800 Unspecified -Orphanet:98904 Congenital myopathy with excess of thin filaments skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:98904 Congenital myopathy with excess of thin filaments skos:exactMatch UMLS:C3711389 Unspecified -Orphanet:98904 Congenital myopathy with excess of thin filaments skos:exactMatch UMLS:C1834336 Unspecified -Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref ICD10:E75.5 Unspecified -Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref OMIM:275630 Unspecified -Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref UMLS:C0268238 Unspecified -Orphanet:98907 Neutral lipid storage disease with ichthyosis skos:broadMatch ICD10:E75.5 Unspecified -Orphanet:98907 Neutral lipid storage disease with ichthyosis skos:exactMatch OMIM:275630 Unspecified -Orphanet:98907 Neutral lipid storage disease with ichthyosis skos:exactMatch UMLS:C0268238 Unspecified -Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref UMLS:C0206716 Unspecified -Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref MedDRA:10017701 Unspecified -Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref ICD10:D33.0 Unspecified -Orphanet:251949 Ganglioglioma skos:exactMatch UMLS:C0206716 Unspecified -Orphanet:251949 Ganglioglioma skos:broadMatch ICD10:D33.0 Unspecified -Orphanet:251949 Ganglioglioma skos:exactMatch MedDRA:10017701 Unspecified -Orphanet:313838 Coats plus syndrome oboInOwl:hasDbXref ICD10:H35.0 Unspecified -Orphanet:313838 Coats plus syndrome oboInOwl:hasDbXref UMLS:C2677299 Unspecified -Orphanet:313838 Coats plus syndrome oboInOwl:hasDbXref OMIM:612199 Unspecified -Orphanet:313838 Coats plus syndrome oboInOwl:hasDbXref OMIM:617341 Unspecified -Orphanet:313838 Coats plus syndrome skos:exactMatch OMIM:612199 Unspecified -Orphanet:313838 Coats plus syndrome skos:exactMatch UMLS:C2677299 Unspecified -Orphanet:313838 Coats plus syndrome skos:broadMatch ICD10:H35.0 Unspecified -Orphanet:313838 Coats plus syndrome skos:narrowMatch OMIM:617341 Unspecified -Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref UMLS:C1833699 Unspecified -Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref ICD10:Q78.8 Unspecified -Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref UMLS:C0029455 Unspecified -Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref OMIM:166700 Unspecified -Orphanet:166119 Isolated osteopoikilosis skos:broadMatch ICD10:Q78.8 Unspecified -Orphanet:166119 Isolated osteopoikilosis skos:broadMatch OMIM:166700 Unspecified -Orphanet:166119 Isolated osteopoikilosis skos:exactMatch UMLS:C0029455 Unspecified -Orphanet:166119 Isolated osteopoikilosis skos:exactMatch UMLS:C1833699 Unspecified -Orphanet:70578 Adult acute respiratory distress syndrome oboInOwl:hasDbXref ICD10:J80 Unspecified -Orphanet:70578 Adult acute respiratory distress syndrome skos:exactMatch ICD10:J80 Unspecified -Orphanet:98902 Amish nemaline myopathy oboInOwl:hasDbXref OMIM:605355 Unspecified -Orphanet:98902 Amish nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:98902 Amish nemaline myopathy skos:exactMatch OMIM:605355 Unspecified -Orphanet:98902 Amish nemaline myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma oboInOwl:hasDbXref ICD10:D33.0 Unspecified -Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma skos:broadMatch ICD10:D33.0 Unspecified -Orphanet:300512 Onychomatricoma oboInOwl:hasDbXref ICD10:D23.9 Unspecified -Orphanet:300512 Onychomatricoma skos:broadMatch ICD10:D23.9 Unspecified -Orphanet:98909 Desminopathy oboInOwl:hasDbXref UMLS:C1832370 Unspecified -Orphanet:98909 Desminopathy oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:98909 Desminopathy oboInOwl:hasDbXref OMIM:601419 Unspecified -Orphanet:98909 Desminopathy skos:exactMatch OMIM:601419 Unspecified -Orphanet:98909 Desminopathy skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:98909 Desminopathy skos:exactMatch UMLS:C1832370 Unspecified -Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref ICD10:E75.5 Unspecified -Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref UMLS:C1853136 Unspecified -Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref OMIM:610717 Unspecified -Orphanet:98908 Neutral lipid storage myopathy skos:exactMatch UMLS:C1853136 Unspecified -Orphanet:98908 Neutral lipid storage myopathy skos:broadMatch ICD10:E75.5 Unspecified -Orphanet:98908 Neutral lipid storage myopathy skos:exactMatch OMIM:610717 Unspecified -Orphanet:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref UMLS:C1266177 Unspecified -Orphanet:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref ICD10:D33.0 Unspecified -Orphanet:251946 Dysembryoplastic neuroepithelial tumor skos:broadMatch ICD10:D33.0 Unspecified -Orphanet:251946 Dysembryoplastic neuroepithelial tumor skos:exactMatch UMLS:C1266177 Unspecified -Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref MESH:D014353 Unspecified -Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.9 Unspecified -Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.1 Unspecified -Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref UMLS:C0041228 Unspecified -Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref MedDRA:10001461 Unspecified -Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.0 Unspecified -Orphanet:3385 African trypanosomiasis skos:exactMatch MedDRA:10001461 Unspecified -Orphanet:3385 African trypanosomiasis skos:narrowMatch ICD10:B56.0 Unspecified -Orphanet:3385 African trypanosomiasis skos:exactMatch UMLS:C0041228 Unspecified -Orphanet:3385 African trypanosomiasis skos:exactMatch MESH:D014353 Unspecified -Orphanet:3385 African trypanosomiasis skos:narrowMatch ICD10:B56.1 Unspecified -Orphanet:3385 African trypanosomiasis skos:narrowMatch ICD10:B56.9 Unspecified -Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref OMIM:244850 Unspecified -Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref UMLS:C1855644 Unspecified -Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch UMLS:C1855644 Unspecified -Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch OMIM:244850 Unspecified -Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref UMLS:C0041234 Unspecified -Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.5 Unspecified -Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.3 Unspecified -Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.1 Unspecified -Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref MedDRA:10001935 Unspecified -Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.4 Unspecified -Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.2 Unspecified -Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.0 Unspecified -Orphanet:3386 American trypanosomiasis skos:narrowMatch ICD10:B57.1 Unspecified -Orphanet:3386 American trypanosomiasis skos:narrowMatch ICD10:B57.3 Unspecified -Orphanet:3386 American trypanosomiasis skos:narrowMatch ICD10:B57.5 Unspecified -Orphanet:3386 American trypanosomiasis skos:narrowMatch ICD10:B57.0 Unspecified -Orphanet:3386 American trypanosomiasis skos:narrowMatch ICD10:B57.4 Unspecified -Orphanet:3386 American trypanosomiasis skos:narrowMatch ICD10:B57.2 Unspecified -Orphanet:3386 American trypanosomiasis skos:exactMatch MedDRA:10001935 Unspecified -Orphanet:3386 American trypanosomiasis skos:exactMatch UMLS:C0041234 Unspecified -Orphanet:168782 Childhood disintegrative disorder oboInOwl:hasDbXref UMLS:C0236791 Unspecified -Orphanet:168782 Childhood disintegrative disorder oboInOwl:hasDbXref ICD10:F84.3 Unspecified -Orphanet:168782 Childhood disintegrative disorder oboInOwl:hasDbXref MedDRA:10008522 Unspecified -Orphanet:168782 Childhood disintegrative disorder skos:exactMatch MedDRA:10008522 Unspecified -Orphanet:168782 Childhood disintegrative disorder skos:exactMatch ICD10:F84.3 Unspecified -Orphanet:168782 Childhood disintegrative disorder skos:exactMatch UMLS:C0236791 Unspecified -Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref UMLS:C1838123 Unspecified -Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref OMIM:600457 Unspecified -Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref ICD10:L68.2 Unspecified -Orphanet:3387 Isolated anterior cervical hypertrichosis skos:broadMatch ICD10:L68.2 Unspecified -Orphanet:3387 Isolated anterior cervical hypertrichosis skos:exactMatch UMLS:C1838123 Unspecified -Orphanet:3387 Isolated anterior cervical hypertrichosis skos:exactMatch OMIM:600457 Unspecified -Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref UMLS:C0268160 Unspecified -Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref MedDRA:10015487 Unspecified -Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref OMIM:229800 Unspecified -Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref MESH:C538068 Unspecified -Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref ICD10:E74.1 Unspecified -Orphanet:2056 Essential fructosuria skos:exactMatch MESH:C538068 Unspecified -Orphanet:2056 Essential fructosuria skos:exactMatch MedDRA:10015487 Unspecified -Orphanet:2056 Essential fructosuria skos:exactMatch UMLS:C0268160 Unspecified -Orphanet:2056 Essential fructosuria skos:exactMatch OMIM:229800 Unspecified -Orphanet:2056 Essential fructosuria skos:broadMatch ICD10:E74.1 Unspecified -Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A16 Unspecified -Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A18 Unspecified -Orphanet:3389 Tuberculosis oboInOwl:hasDbXref MedDRA:10044755 Unspecified -Orphanet:3389 Tuberculosis oboInOwl:hasDbXref UMLS:C0041296 Unspecified -Orphanet:3389 Tuberculosis oboInOwl:hasDbXref MESH:D014376 Unspecified -Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A15 Unspecified -Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A17 Unspecified -Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A19 Unspecified -Orphanet:3389 Tuberculosis oboInOwl:hasDbXref OMIM:607948 Unspecified -Orphanet:3389 Tuberculosis skos:narrowMatch ICD10:A16 Unspecified -Orphanet:3389 Tuberculosis skos:narrowMatch ICD10:A18 Unspecified -Orphanet:3389 Tuberculosis skos:exactMatch UMLS:C0041296 Unspecified -Orphanet:3389 Tuberculosis skos:exactMatch MESH:D014376 Unspecified -Orphanet:3389 Tuberculosis skos:narrowMatch ICD10:A17 Unspecified -Orphanet:3389 Tuberculosis skos:narrowMatch ICD10:A15 Unspecified -Orphanet:3389 Tuberculosis skos:narrowMatch ICD10:A19 Unspecified -Orphanet:3389 Tuberculosis skos:narrowMatch OMIM:607948 Unspecified -Orphanet:3389 Tuberculosis skos:exactMatch MedDRA:10044755 Unspecified -Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref ICD10:D36.1 Unspecified -Orphanet:251937 Gangliocytoma skos:broadMatch ICD10:D36.1 Unspecified -Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref UMLS:C0035220 Unspecified -Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref UMLS:C0852283 Unspecified -Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref UMLS:C0020192 Unspecified -Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref OMIM:267450 Unspecified -Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref ICD10:P22.0 Unspecified -Orphanet:70587 Infant acute respiratory distress syndrome skos:exactMatch ICD10:P22.0 Unspecified -Orphanet:70587 Infant acute respiratory distress syndrome skos:exactMatch OMIM:267450 Unspecified -Orphanet:70587 Infant acute respiratory distress syndrome skos:exactMatch UMLS:C0020192 Unspecified -Orphanet:70587 Infant acute respiratory distress syndrome skos:exactMatch UMLS:C0852283 Unspecified -Orphanet:70587 Infant acute respiratory distress syndrome skos:exactMatch UMLS:C0035220 Unspecified -Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref ICD10:P24.0 Unspecified -Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref MESH:D008471 Unspecified -Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref UMLS:C0025048 Unspecified -Orphanet:70588 Meconium aspiration syndrome skos:exactMatch ICD10:P24.0 Unspecified -Orphanet:70588 Meconium aspiration syndrome skos:exactMatch MESH:D008471 Unspecified -Orphanet:70588 Meconium aspiration syndrome skos:exactMatch UMLS:C0025048 Unspecified -Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref ICD10:Q82.4 Unspecified -Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref UMLS:C0406778 Unspecified -Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref OMIM:125595 Unspecified -Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref MESH:C535374 Unspecified -Orphanet:86920 Dermatopathia pigmentosa reticularis skos:exactMatch UMLS:C0406778 Unspecified -Orphanet:86920 Dermatopathia pigmentosa reticularis skos:exactMatch OMIM:125595 Unspecified -Orphanet:86920 Dermatopathia pigmentosa reticularis skos:exactMatch MESH:C535374 Unspecified -Orphanet:86920 Dermatopathia pigmentosa reticularis skos:broadMatch ICD10:Q82.4 Unspecified -Orphanet:251931 Cerebellar liponeurocytoma oboInOwl:hasDbXref ICD10:D33.1 Unspecified -Orphanet:251931 Cerebellar liponeurocytoma oboInOwl:hasDbXref UMLS:C1370507 Unspecified -Orphanet:251931 Cerebellar liponeurocytoma skos:exactMatch UMLS:C1370507 Unspecified -Orphanet:251931 Cerebellar liponeurocytoma skos:broadMatch ICD10:D33.1 Unspecified -Orphanet:3392 Tularemia oboInOwl:hasDbXref MESH:D014406 Unspecified -Orphanet:3392 Tularemia oboInOwl:hasDbXref MedDRA:10045146 Unspecified -Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.9 Unspecified -Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.1 Unspecified -Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.3 Unspecified -Orphanet:3392 Tularemia oboInOwl:hasDbXref UMLS:C0041351 Unspecified -Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.7 Unspecified -Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.2 Unspecified -Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.8 Unspecified -Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.0 Unspecified -Orphanet:3392 Tularemia skos:narrowMatch ICD10:A21.1 Unspecified -Orphanet:3392 Tularemia skos:narrowMatch ICD10:A21.3 Unspecified -Orphanet:3392 Tularemia skos:narrowMatch ICD10:A21.7 Unspecified -Orphanet:3392 Tularemia skos:narrowMatch ICD10:A21.9 Unspecified -Orphanet:3392 Tularemia skos:narrowMatch ICD10:A21.0 Unspecified -Orphanet:3392 Tularemia skos:narrowMatch ICD10:A21.2 Unspecified -Orphanet:3392 Tularemia skos:narrowMatch ICD10:A21.8 Unspecified -Orphanet:3392 Tularemia skos:exactMatch UMLS:C0041351 Unspecified -Orphanet:3392 Tularemia skos:exactMatch MESH:D014406 Unspecified -Orphanet:3392 Tularemia skos:exactMatch MedDRA:10045146 Unspecified -Orphanet:505208 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:505208 3-methylglutaconic aciduria type 8 skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:613763 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:212500 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:604307 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610425 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605728 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610623 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116400 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:607304 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115650 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116600 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115665 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601885 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116800 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115700 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615277 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:604219 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115900 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116200 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116700 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616279 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611391 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601547 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:302200 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610202 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:600881 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115800 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605749 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116100 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616509 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116300 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:614691 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:609741 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:614422 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601202 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605387 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115660 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615188 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref ICD10:Q12.0 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610019 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615274 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611597 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:609376 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611544 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616851 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116400 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116200 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115650 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115665 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116600 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:607304 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:615277 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115700 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:212500 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:613763 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115900 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:exactMatch ICD10:Q12.0 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:604219 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610623 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:605728 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:601885 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116800 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610425 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:604307 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:614422 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:614691 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:609741 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:broadMatch OMIM:611597 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:616851 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:605387 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115660 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:601202 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:615274 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:302200 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:616279 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:601547 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116700 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:611544 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:609376 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116300 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:616509 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:611391 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610019 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:615188 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116100 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:605749 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:600881 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610202 Unspecified -Orphanet:91492 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115800 Unspecified -Orphanet:313855 FGFR2-related bent bone dysplasia oboInOwl:hasDbXref OMIM:614592 Unspecified -Orphanet:313855 FGFR2-related bent bone dysplasia skos:exactMatch OMIM:614592 Unspecified -Orphanet:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:90160 Pressure-induced localized lipoatrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref UMLS:C1857299 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:611308 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref UMLS:C0266568 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref ICD10:Q14.0 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:221900 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref MESH:D054514 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous skos:narrowMatch OMIM:611308 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous skos:exactMatch MESH:D054514 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous skos:broadMatch ICD10:Q14.0 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous skos:exactMatch UMLS:C0266568 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous skos:narrowMatch OMIM:221900 Unspecified -Orphanet:91495 Persistent hyperplastic primary vitreous skos:exactMatch UMLS:C1857299 Unspecified -Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref OMIM:613163 Unspecified -Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref MESH:C535407 Unspecified -Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref UMLS:C0342708 Unspecified -Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency skos:exactMatch MESH:C535407 Unspecified -Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency skos:exactMatch UMLS:C0342708 Unspecified -Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency skos:exactMatch OMIM:613163 Unspecified -Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref OMIM:193230 Unspecified -Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref UMLS:C1860405 Unspecified -Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref MESH:C536677 Unspecified -Orphanet:91496 Snowflake vitreoretinal degeneration skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:91496 Snowflake vitreoretinal degeneration skos:exactMatch UMLS:C1860405 Unspecified -Orphanet:91496 Snowflake vitreoretinal degeneration skos:exactMatch MESH:C536677 Unspecified -Orphanet:91496 Snowflake vitreoretinal degeneration skos:exactMatch OMIM:193230 Unspecified -Orphanet:313850 Infantile cerebellar-retinal degeneration oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:313850 Infantile cerebellar-retinal degeneration oboInOwl:hasDbXref OMIM:614559 Unspecified -Orphanet:313850 Infantile cerebellar-retinal degeneration skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:313850 Infantile cerebellar-retinal degeneration skos:exactMatch OMIM:614559 Unspecified -Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref UMLS:C1850899 Unspecified -Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref OMIM:137270 Unspecified -Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref MESH:C535651 Unspecified -Orphanet:2069 Gastrocutaneous syndrome skos:exactMatch MESH:C535651 Unspecified -Orphanet:2069 Gastrocutaneous syndrome skos:exactMatch UMLS:C1850899 Unspecified -Orphanet:2069 Gastrocutaneous syndrome skos:exactMatch OMIM:137270 Unspecified -Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref OMIM:136480 Unspecified -Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref UMLS:C1850996 Unspecified -Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref ICD10:H49.1 Unspecified -Orphanet:91498 Familial congenital palsy of trochlear nerve skos:exactMatch OMIM:136480 Unspecified -Orphanet:91498 Familial congenital palsy of trochlear nerve skos:broadMatch ICD10:H49.1 Unspecified -Orphanet:91498 Familial congenital palsy of trochlear nerve skos:exactMatch UMLS:C1850996 Unspecified -Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores oboInOwl:hasDbXref OMIM:614807 Unspecified -Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores skos:exactMatch OMIM:614807 Unspecified -Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref ICD10:D33.0 Unspecified -Orphanet:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref UMLS:C2985174 Unspecified -Orphanet:251962 Papillary glioneuronal tumor skos:exactMatch UMLS:C2985174 Unspecified -Orphanet:251962 Papillary glioneuronal tumor skos:broadMatch ICD10:D33.0 Unspecified -Orphanet:300536 DDOST-CDG oboInOwl:hasDbXref OMIM:614507 Unspecified -Orphanet:300536 DDOST-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:300536 DDOST-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:300536 DDOST-CDG skos:exactMatch OMIM:614507 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref MedDRA:10028713 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref UMLS:C0027404 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref MESH:D009290 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:609039 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:612417 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref ICD10:G47.4 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:612851 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref UMLS:C0751362 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:614250 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:605841 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:614223 Unspecified -Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:161400 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:narrowMatch OMIM:161400 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:exactMatch UMLS:C0751362 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:narrowMatch OMIM:614250 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:narrowMatch OMIM:605841 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:narrowMatch OMIM:614223 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:narrowMatch OMIM:612851 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:exactMatch MedDRA:10028713 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:narrowMatch OMIM:612417 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:narrowMatch OMIM:609039 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:exactMatch MESH:D009290 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:exactMatch UMLS:C0027404 Unspecified -Orphanet:2073 Narcolepsy type 1 skos:exactMatch ICD10:G47.4 Unspecified -Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome oboInOwl:hasDbXref OMIM:616029 Unspecified -Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:exactMatch OMIM:616029 Unspecified -Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:86906 Hypothalamic hamartomas with gelastic seizures oboInOwl:hasDbXref ICD10:G40.5 Unspecified -Orphanet:86906 Hypothalamic hamartomas with gelastic seizures skos:broadMatch ICD10:G40.5 Unspecified -Orphanet:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref UMLS:C1301364 Unspecified -Orphanet:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref ICD10:C96.4 Unspecified -Orphanet:86903 Dendritic cell sarcoma not otherwise specified skos:broadMatch ICD10:C96.4 Unspecified -Orphanet:86903 Dendritic cell sarcoma not otherwise specified skos:exactMatch UMLS:C1301364 Unspecified -Orphanet:86904 Methotrexate-associated lymphoproliferative disorders oboInOwl:hasDbXref ICD10:D47.7 Unspecified -Orphanet:86904 Methotrexate-associated lymphoproliferative disorders skos:broadMatch ICD10:D47.7 Unspecified -Orphanet:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref OMIM:617698 Unspecified -Orphanet:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:505216 3-methylglutaconic aciduria type 9 skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:505216 3-methylglutaconic aciduria type 9 skos:exactMatch OMIM:617698 Unspecified -Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref UMLS:C1262481 Unspecified -Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref MESH:C535952 Unspecified -Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref MedDRA:10017902 Unspecified -Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref ICD10:K52.8 Unspecified -Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref UMLS:C2062326 Unspecified -Orphanet:2070 Eosinophilic gastroenteritis skos:exactMatch MedDRA:10017902 Unspecified -Orphanet:2070 Eosinophilic gastroenteritis skos:exactMatch MESH:C535952 Unspecified -Orphanet:2070 Eosinophilic gastroenteritis skos:broadMatch ICD10:K52.8 Unspecified -Orphanet:2070 Eosinophilic gastroenteritis skos:exactMatch UMLS:C2062326 Unspecified -Orphanet:2070 Eosinophilic gastroenteritis skos:exactMatch UMLS:C1262481 Unspecified -Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054740 Unspecified -Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 Unspecified -Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C1260325 Unspecified -Orphanet:86902 Follicular dendritic cell sarcoma skos:broadMatch ICD10:C96.4 Unspecified -Orphanet:86902 Follicular dendritic cell sarcoma skos:exactMatch UMLS:C1260325 Unspecified -Orphanet:86902 Follicular dendritic cell sarcoma skos:exactMatch MESH:D054740 Unspecified -Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref OMIM:607626 Unspecified -Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref UMLS:C1843355 Unspecified -Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch UMLS:C1843355 Unspecified -Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch OMIM:607626 Unspecified -Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref ICD10:G10 Unspecified -Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref OMIM:300842 Unspecified -Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref UMLS:C0398568 Unspecified -Orphanet:59306 McLeod neuroacanthocytosis syndrome skos:broadMatch ICD10:G10 Unspecified -Orphanet:59306 McLeod neuroacanthocytosis syndrome skos:exactMatch UMLS:C0398568 Unspecified -Orphanet:59306 McLeod neuroacanthocytosis syndrome skos:broadMatch OMIM:300842 Unspecified -Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref OMIM:125630 Unspecified -Orphanet:493342 Vibratory urticaria skos:exactMatch OMIM:125630 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C1260326 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054739 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C0024302 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref MedDRA:10038804 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref OMIM:267730 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma skos:exactMatch OMIM:267730 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma skos:exactMatch MedDRA:10038804 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma skos:broadMatch ICD10:C96.4 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma skos:exactMatch UMLS:C0024302 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma skos:exactMatch MESH:D054739 Unspecified -Orphanet:86900 Interdigitating dendritic cell sarcoma skos:exactMatch UMLS:C1260326 Unspecified -Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref OMIM:180550 Unspecified -Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref UMLS:C1867155 Unspecified -Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref MESH:C535684 Unspecified -Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref ICD10:D31.1 Unspecified -Orphanet:91481 Ring dermoid of cornea skos:broadMatch ICD10:D31.1 Unspecified -Orphanet:91481 Ring dermoid of cornea skos:exactMatch MESH:C535684 Unspecified -Orphanet:91481 Ring dermoid of cornea skos:exactMatch UMLS:C1867155 Unspecified -Orphanet:91481 Ring dermoid of cornea skos:exactMatch OMIM:180550 Unspecified -Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome oboInOwl:hasDbXref OMIM:614564 Unspecified -Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome skos:exactMatch OMIM:614564 Unspecified -Orphanet:86909 Myoclonic epilepsy of infancy oboInOwl:hasDbXref UMLS:C0751120 Unspecified -Orphanet:86909 Myoclonic epilepsy of infancy oboInOwl:hasDbXref UMLS:C0917800 Unspecified -Orphanet:86909 Myoclonic epilepsy of infancy oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:86909 Myoclonic epilepsy of infancy skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:86909 Myoclonic epilepsy of infancy skos:exactMatch UMLS:C0917800 Unspecified -Orphanet:86909 Myoclonic epilepsy of infancy skos:exactMatch UMLS:C0751120 Unspecified -Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref UMLS:C0549118 Unspecified -Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome skos:exactMatch UMLS:C0549118 Unspecified -Orphanet:90156 Centrifugal lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:90156 Centrifugal lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:70568 Post-transplant lymphoproliferative disease oboInOwl:hasDbXref UMLS:C0432487 Unspecified -Orphanet:70568 Post-transplant lymphoproliferative disease oboInOwl:hasDbXref MedDRA:10051358 Unspecified -Orphanet:70568 Post-transplant lymphoproliferative disease oboInOwl:hasDbXref ICD10:D47.9 Unspecified -Orphanet:70568 Post-transplant lymphoproliferative disease skos:broadMatch ICD10:D47.9 Unspecified -Orphanet:70568 Post-transplant lymphoproliferative disease skos:exactMatch MedDRA:10051358 Unspecified -Orphanet:70568 Post-transplant lymphoproliferative disease skos:exactMatch UMLS:C0432487 Unspecified -Orphanet:90158 Idiopathic localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:90158 Idiopathic localized lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:90157 Drug-induced localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:90157 Drug-induced localized lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref OMIM:616187 Unspecified -Orphanet:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:435438 Progressive myoclonic epilepsy type 7 skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:435438 Progressive myoclonic epilepsy type 7 skos:exactMatch OMIM:616187 Unspecified -Orphanet:90159 Panniculitis-induced localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:90159 Panniculitis-induced localized lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref OMIM:615619 Unspecified -Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.8 Unspecified -Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.0 Unspecified -Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref MedDRA:10004593 Unspecified -Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref MESH:D001650 Unspecified -Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.1 Unspecified -Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref UMLS:C0740277 Unspecified -Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.9 Unspecified -Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref MESH:D018281 Unspecified -Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref UMLS:C0206698 Unspecified -Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref MedDRA:10008593 Unspecified -Orphanet:70567 Cholangiocarcinoma skos:exactMatch MESH:D001650 Unspecified -Orphanet:70567 Cholangiocarcinoma skos:narrowMatch ICD10:C24.8 Unspecified -Orphanet:70567 Cholangiocarcinoma skos:narrowMatch ICD10:C24.0 Unspecified -Orphanet:70567 Cholangiocarcinoma skos:narrowMatch OMIM:615619 Unspecified -Orphanet:70567 Cholangiocarcinoma skos:exactMatch MedDRA:10004593 Unspecified -Orphanet:70567 Cholangiocarcinoma skos:exactMatch MedDRA:10008593 Unspecified -Orphanet:70567 Cholangiocarcinoma skos:exactMatch UMLS:C0206698 Unspecified -Orphanet:70567 Cholangiocarcinoma skos:exactMatch ICD10:C22.1 Unspecified -Orphanet:70567 Cholangiocarcinoma skos:exactMatch MESH:D018281 Unspecified -Orphanet:70567 Cholangiocarcinoma skos:exactMatch UMLS:C0740277 Unspecified -Orphanet:70567 Cholangiocarcinoma skos:narrowMatch ICD10:C24.9 Unspecified -Orphanet:493348 Vibratory angioedema oboInOwl:hasDbXref OMIM:125630 Unspecified -Orphanet:493348 Vibratory angioedema skos:broadMatch OMIM:125630 Unspecified -Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref OMIM:143880 Unspecified -Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref ICD10:E83.5 Unspecified -Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref OMIM:616963 Unspecified -Orphanet:300547 Autosomal recessive infantile hypercalcemia skos:broadMatch ICD10:E83.5 Unspecified -Orphanet:300547 Autosomal recessive infantile hypercalcemia skos:exactMatch OMIM:143880 Unspecified -Orphanet:300547 Autosomal recessive infantile hypercalcemia skos:narrowMatch OMIM:616963 Unspecified -Orphanet:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref ICD10:D43.0 Unspecified -Orphanet:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref UMLS:C0431112 Unspecified -Orphanet:251957 Anaplastic ganglioglioma skos:exactMatch UMLS:C0431112 Unspecified -Orphanet:251957 Anaplastic ganglioglioma skos:broadMatch ICD10:D43.0 Unspecified -Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref OMIM:617827 Unspecified -Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency skos:exactMatch OMIM:617827 Unspecified -Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:134600 Unspecified -Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:618913 Unspecified -Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:613388 Unspecified -Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:615605 Unspecified -Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref ICD10:E72.0 Unspecified -Orphanet:3337 Primary Fanconi renotubular syndrome skos:narrowMatch OMIM:618913 Unspecified -Orphanet:3337 Primary Fanconi renotubular syndrome skos:narrowMatch OMIM:613388 Unspecified -Orphanet:3337 Primary Fanconi renotubular syndrome skos:broadMatch ICD10:E72.0 Unspecified -Orphanet:3337 Primary Fanconi renotubular syndrome skos:narrowMatch OMIM:615605 Unspecified -Orphanet:3337 Primary Fanconi renotubular syndrome skos:exactMatch OMIM:134600 Unspecified -Orphanet:397587 Deep dermatophytosis oboInOwl:hasDbXref UMLS:C1395264 Unspecified -Orphanet:397587 Deep dermatophytosis oboInOwl:hasDbXref ICD10:B35.8 Unspecified -Orphanet:397587 Deep dermatophytosis skos:broadMatch ICD10:B35.8 Unspecified -Orphanet:397587 Deep dermatophytosis skos:exactMatch UMLS:C1395264 Unspecified -Orphanet:456369 Polyglucosan body myopathy type 2 oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:456369 Polyglucosan body myopathy type 2 oboInOwl:hasDbXref OMIM:616199 Unspecified -Orphanet:456369 Polyglucosan body myopathy type 2 skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:456369 Polyglucosan body myopathy type 2 skos:exactMatch OMIM:616199 Unspecified -Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref ICD10:J98.0 Unspecified -Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref OMIM:189961 Unspecified -Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref UMLS:C3887588 Unspecified -Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref UMLS:C0520538 Unspecified -Orphanet:3348 Tracheobronchopathia osteochondroplastica skos:exactMatch UMLS:C3887588 Unspecified -Orphanet:3348 Tracheobronchopathia osteochondroplastica skos:exactMatch UMLS:C0520538 Unspecified -Orphanet:3348 Tracheobronchopathia osteochondroplastica skos:exactMatch OMIM:189961 Unspecified -Orphanet:3348 Tracheobronchopathia osteochondroplastica skos:broadMatch ICD10:J98.0 Unspecified -Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome oboInOwl:hasDbXref OMIM:615493 Unspecified -Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome skos:exactMatch OMIM:615493 Unspecified -Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:3343 Toxocariasis oboInOwl:hasDbXref ICD10:B83.0 Unspecified -Orphanet:3343 Toxocariasis oboInOwl:hasDbXref MedDRA:10044269 Unspecified -Orphanet:3343 Toxocariasis oboInOwl:hasDbXref UMLS:C0040553 Unspecified -Orphanet:3343 Toxocariasis oboInOwl:hasDbXref MESH:D014120 Unspecified -Orphanet:3343 Toxocariasis skos:exactMatch MESH:D014120 Unspecified -Orphanet:3343 Toxocariasis skos:exactMatch UMLS:C0040553 Unspecified -Orphanet:3343 Toxocariasis skos:exactMatch MedDRA:10044269 Unspecified -Orphanet:3343 Toxocariasis skos:exactMatch ICD10:B83.0 Unspecified -Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency oboInOwl:hasDbXref OMIM:615595 Unspecified -Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency skos:narrowMatch OMIM:615595 Unspecified -Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref OMIM:616005 Unspecified -Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref OMIM:615513 Unspecified -Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref UMLS:C3714976 Unspecified -Orphanet:397596 Activated PI3K-delta syndrome skos:exactMatch UMLS:C3714976 Unspecified -Orphanet:397596 Activated PI3K-delta syndrome skos:narrowMatch OMIM:616005 Unspecified -Orphanet:397596 Activated PI3K-delta syndrome skos:narrowMatch OMIM:615513 Unspecified -Orphanet:397596 Activated PI3K-delta syndrome skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref UMLS:C1847987 Unspecified -Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref ICD10:G10 Unspecified -Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref OMIM:606438 Unspecified -Orphanet:98934 Huntington disease-like 2 skos:exactMatch OMIM:606438 Unspecified -Orphanet:98934 Huntington disease-like 2 skos:broadMatch ICD10:G10 Unspecified -Orphanet:98934 Huntington disease-like 2 skos:exactMatch UMLS:C1847987 Unspecified -Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref ICD10:C83.8 Unspecified -Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref MedDRA:10065857 Unspecified -Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref MESH:D054685 Unspecified -Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref UMLS:C1292753 Unspecified -Orphanet:48686 Primary effusion lymphoma skos:broadMatch ICD10:C83.8 Unspecified -Orphanet:48686 Primary effusion lymphoma skos:exactMatch MESH:D054685 Unspecified -Orphanet:48686 Primary effusion lymphoma skos:exactMatch MedDRA:10065857 Unspecified -Orphanet:48686 Primary effusion lymphoma skos:exactMatch UMLS:C1292753 Unspecified -Orphanet:251975 Rosette-forming glioneuronal tumor oboInOwl:hasDbXref ICD10:D33.1 Unspecified -Orphanet:251975 Rosette-forming glioneuronal tumor skos:broadMatch ICD10:D33.1 Unspecified -Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref ICD10:E74.0+ Unspecified -Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref OMIM:261740 Unspecified -Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref UMLS:C1849813 Unspecified -Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref ICD10:G73.6* Unspecified -Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease skos:exactMatch OMIM:261740 Unspecified -Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease skos:broadMatch ICD10:G73.6* Unspecified -Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease skos:broadMatch ICD10:E74.0+ Unspecified -Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease skos:exactMatch UMLS:C1849813 Unspecified -Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:617560 Unspecified -Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch OMIM:617560 Unspecified -Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref ICD10:G25.0 Unspecified -Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref UMLS:C1860860 Unspecified -Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref OMIM:190310 Unspecified -Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch OMIM:190310 Unspecified -Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome skos:broadMatch ICD10:G25.0 Unspecified -Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch UMLS:C1860860 Unspecified -Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:300580 Unspecified -Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:255310 Unspecified -Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:617760 Unspecified -Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref UMLS:C0546264 Unspecified -Orphanet:2020 Congenital fiber-type disproportion myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:2020 Congenital fiber-type disproportion myopathy skos:exactMatch UMLS:C0546264 Unspecified -Orphanet:2020 Congenital fiber-type disproportion myopathy skos:narrowMatch OMIM:300580 Unspecified -Orphanet:2020 Congenital fiber-type disproportion myopathy skos:narrowMatch OMIM:617760 Unspecified -Orphanet:2020 Congenital fiber-type disproportion myopathy skos:exactMatch OMIM:255310 Unspecified -Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome oboInOwl:hasDbXref OMIM:617595 Unspecified -Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome oboInOwl:hasDbXref ICD10:E83.2 Unspecified -Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:exactMatch OMIM:617595 Unspecified -Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:broadMatch ICD10:E83.2 Unspecified -Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref OMIM:614524 Unspecified -Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref OMIM:228520 Unspecified -Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref UMLS:C0265282 Unspecified -Orphanet:2021 Fibrochondrogenesis skos:narrowMatch OMIM:614524 Unspecified -Orphanet:2021 Fibrochondrogenesis skos:exactMatch OMIM:228520 Unspecified -Orphanet:2021 Fibrochondrogenesis skos:exactMatch UMLS:C0265282 Unspecified -Orphanet:2021 Fibrochondrogenesis skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:443070 Hemicrania continua oboInOwl:hasDbXref ICD10:G44.0 Unspecified -Orphanet:443070 Hemicrania continua skos:broadMatch ICD10:G44.0 Unspecified -Orphanet:443073 Charcot-Marie-Tooth disease type 2S oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:443073 Charcot-Marie-Tooth disease type 2S oboInOwl:hasDbXref OMIM:616155 Unspecified -Orphanet:443073 Charcot-Marie-Tooth disease type 2S skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:443073 Charcot-Marie-Tooth disease type 2S skos:exactMatch OMIM:616155 Unspecified -Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref OMIM:612716 Unspecified -Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref UMLS:C0268468 Unspecified -Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch UMLS:C0268468 Unspecified -Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch OMIM:612716 Unspecified -Orphanet:399307 Idiopathic avascular necrosis oboInOwl:hasDbXref ICD10:M87.0 Unspecified -Orphanet:399307 Idiopathic avascular necrosis skos:exactMatch ICD10:M87.0 Unspecified -Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 Unspecified -Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:broadMatch ICD10:D80.8 Unspecified -Orphanet:70596 Congenital Epstein-Barr virus infection oboInOwl:hasDbXref ICD10:P35.8 Unspecified -Orphanet:70596 Congenital Epstein-Barr virus infection skos:broadMatch ICD10:P35.8 Unspecified -Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref OMIM:604320 Unspecified -Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref UMLS:C1858517 Unspecified -Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 skos:exactMatch OMIM:604320 Unspecified -Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 skos:exactMatch UMLS:C1858517 Unspecified -Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref MESH:C537583 Unspecified -Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref OMIM:607459 Unspecified -Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref UMLS:C1843851 Unspecified -Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome skos:exactMatch UMLS:C1843851 Unspecified -Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome skos:exactMatch OMIM:607459 Unspecified -Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome skos:exactMatch MESH:C537583 Unspecified -Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref OMIM:226000 Unspecified -Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref ICD10:I42.4 Unspecified -Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref MedDRA:10014663 Unspecified -Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref UMLS:C0014117 Unspecified -Orphanet:2022 Endocardial fibroelastosis skos:exactMatch OMIM:226000 Unspecified -Orphanet:2022 Endocardial fibroelastosis skos:exactMatch ICD10:I42.4 Unspecified -Orphanet:2022 Endocardial fibroelastosis skos:exactMatch MedDRA:10014663 Unspecified -Orphanet:2022 Endocardial fibroelastosis skos:exactMatch UMLS:C0014117 Unspecified -Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref UMLS:C0730328 Unspecified -Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref ICD10:H35.7 Unspecified -Orphanet:443079 Central serous chorioretinopathy skos:broadMatch ICD10:H35.7 Unspecified -Orphanet:443079 Central serous chorioretinopathy skos:exactMatch UMLS:C0730328 Unspecified -Orphanet:70590 Infantile apnea oboInOwl:hasDbXref ICD10:P28.4 Unspecified -Orphanet:70590 Infantile apnea skos:narrowMatch ICD10:P28.4 Unspecified -Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref MESH:D051677 Unspecified -Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref UMLS:C0334463 Unspecified -Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref MedDRA:10025552 Unspecified -Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:2023 Undifferentiated pleomorphic sarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:2023 Undifferentiated pleomorphic sarcoma skos:exactMatch MESH:D051677 Unspecified -Orphanet:2023 Undifferentiated pleomorphic sarcoma skos:exactMatch UMLS:C0334463 Unspecified -Orphanet:2023 Undifferentiated pleomorphic sarcoma skos:exactMatch MedDRA:10025552 Unspecified -Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref OMIM:607676 Unspecified -Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref UMLS:C1843256 Unspecified -Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency skos:exactMatch UMLS:C1843256 Unspecified -Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency skos:exactMatch OMIM:607676 Unspecified -Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref UMLS:C2363973 Unspecified -Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref OMIM:612862 Unspecified -Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref MedDRA:10068739 Unspecified -Orphanet:70591 Chronic thromboembolic pulmonary hypertension skos:exactMatch MedDRA:10068739 Unspecified -Orphanet:70591 Chronic thromboembolic pulmonary hypertension skos:exactMatch OMIM:612862 Unspecified -Orphanet:70591 Chronic thromboembolic pulmonary hypertension skos:exactMatch UMLS:C2363973 Unspecified -Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref ICD10:D69.1 Unspecified -Orphanet:248340 Isolated delta-storage pool disease skos:broadMatch ICD10:D69.1 Unspecified -Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref MedDRA:10016632 Unspecified -Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref MESH:D005354 Unspecified -Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref UMLS:C0016057 Unspecified -Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref OMIM:117600 Unspecified -Orphanet:2030 Fibrosarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:2030 Fibrosarcoma skos:exactMatch UMLS:C0016057 Unspecified -Orphanet:2030 Fibrosarcoma skos:exactMatch MedDRA:10016632 Unspecified -Orphanet:2030 Fibrosarcoma skos:exactMatch MESH:D005354 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref MedDRA:10021240 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:178500 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref UMLS:C0085786 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:616373 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:616371 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref MESH:D054990 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref UMLS:C1800706 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref ICD10:J84.1 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis skos:exactMatch UMLS:C1800706 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis skos:exactMatch MESH:D054990 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis skos:exactMatch UMLS:C0085786 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis skos:narrowMatch OMIM:616371 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis skos:narrowMatch OMIM:616373 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis skos:broadMatch ICD10:J84.1 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis skos:exactMatch MedDRA:10021240 Unspecified -Orphanet:2032 Idiopathic pulmonary fibrosis skos:exactMatch OMIM:178500 Unspecified -Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref ICD10:E29.1 Unspecified -Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref UMLS:C1839840 Unspecified -Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref OMIM:614279 Unspecified -Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch OMIM:614279 Unspecified -Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch UMLS:C1839840 Unspecified -Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:broadMatch ICD10:E29.1 Unspecified -Orphanet:58017 Classic hairy cell leukemia oboInOwl:hasDbXref UMLS:C0023443 Unspecified -Orphanet:58017 Classic hairy cell leukemia oboInOwl:hasDbXref MedDRA:10019053 Unspecified -Orphanet:58017 Classic hairy cell leukemia oboInOwl:hasDbXref MESH:D007943 Unspecified -Orphanet:58017 Classic hairy cell leukemia oboInOwl:hasDbXref ICD10:C91.4 Unspecified -Orphanet:58017 Classic hairy cell leukemia skos:exactMatch MESH:D007943 Unspecified -Orphanet:58017 Classic hairy cell leukemia skos:exactMatch UMLS:C0023443 Unspecified -Orphanet:58017 Classic hairy cell leukemia skos:exactMatch MedDRA:10019053 Unspecified -Orphanet:58017 Classic hairy cell leukemia skos:broadMatch ICD10:C91.4 Unspecified -Orphanet:300504 Onychocytic matricoma oboInOwl:hasDbXref ICD10:D23.9 Unspecified -Orphanet:300504 Onychocytic matricoma skos:broadMatch ICD10:D23.9 Unspecified -Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref ICD10:D36.1 Unspecified -Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref MedDRA:10017709 Unspecified -Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref UMLS:C0017075 Unspecified -Orphanet:251992 Ganglioneuroma skos:exactMatch MedDRA:10017709 Unspecified -Orphanet:251992 Ganglioneuroma skos:exactMatch UMLS:C0017075 Unspecified -Orphanet:251992 Ganglioneuroma skos:broadMatch ICD10:D36.1 Unspecified -Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref OMIM:618855 Unspecified -Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy skos:exactMatch OMIM:618855 Unspecified -Orphanet:313800 Optic nerve edema-splenomegaly syndrome oboInOwl:hasDbXref OMIM:614979 Unspecified -Orphanet:313800 Optic nerve edema-splenomegaly syndrome skos:exactMatch OMIM:614979 Unspecified -Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref UMLS:C0013884 Unspecified -Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.2 Unspecified -Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.0 Unspecified -Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.1 Unspecified -Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref MedDRA:10016675 Unspecified -Orphanet:2035 Lymphatic filariasis skos:exactMatch MedDRA:10016675 Unspecified -Orphanet:2035 Lymphatic filariasis skos:narrowMatch ICD10:B74.0 Unspecified -Orphanet:2035 Lymphatic filariasis skos:narrowMatch ICD10:B74.2 Unspecified -Orphanet:2035 Lymphatic filariasis skos:exactMatch UMLS:C0013884 Unspecified -Orphanet:2035 Lymphatic filariasis skos:narrowMatch ICD10:B74.1 Unspecified -Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref ICD10:G61.0 Unspecified -Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref UMLS:C1963929 Unspecified -Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref OMIM:139393 Unspecified -Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy skos:broadMatch ICD10:G61.0 Unspecified -Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy skos:narrowMatch OMIM:139393 Unspecified -Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy skos:exactMatch UMLS:C1963929 Unspecified -Orphanet:356978 D,L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:615182 Unspecified -Orphanet:356978 D,L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:356978 D,L-2-hydroxyglutaric aciduria skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:356978 D,L-2-hydroxyglutaric aciduria skos:exactMatch OMIM:615182 Unspecified -Orphanet:98918 Acute motor axonal neuropathy oboInOwl:hasDbXref ICD10:G61.0 Unspecified -Orphanet:98918 Acute motor axonal neuropathy skos:broadMatch ICD10:G61.0 Unspecified -Orphanet:98917 Acute motor and sensory axonal neuropathy oboInOwl:hasDbXref ICD10:G61.0 Unspecified -Orphanet:98917 Acute motor and sensory axonal neuropathy skos:broadMatch ICD10:G61.0 Unspecified -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref UMLS:C3711381 Unspecified -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref OMIM:221820 Unspecified -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:exactMatch OMIM:221820 Unspecified -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:exactMatch UMLS:C3711381 Unspecified -Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref UMLS:C1836155 Unspecified -Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref OMIM:609452 Unspecified -Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type skos:exactMatch OMIM:609452 Unspecified -Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type skos:exactMatch UMLS:C1836155 Unspecified -Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization oboInOwl:hasDbXref ICD10:P55.8 Unspecified -Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization skos:broadMatch ICD10:P55.8 Unspecified -Orphanet:98911 Distal myotilinopathy oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:98911 Distal myotilinopathy oboInOwl:hasDbXref OMIM:609200 Unspecified -Orphanet:98911 Distal myotilinopathy skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:98911 Distal myotilinopathy skos:exactMatch OMIM:609200 Unspecified -Orphanet:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref OMIM:612292 Unspecified -Orphanet:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:166108 Intellectual disability, Birk-Barel type skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:166108 Intellectual disability, Birk-Barel type skos:exactMatch OMIM:612292 Unspecified -Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref UMLS:C0393799 Unspecified -Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref ICD10:G61.0 Unspecified -Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref MESH:D019846 Unspecified -Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref MedDRA:10049567 Unspecified -Orphanet:98919 Miller Fisher syndrome skos:exactMatch MESH:D019846 Unspecified -Orphanet:98919 Miller Fisher syndrome skos:broadMatch ICD10:G61.0 Unspecified -Orphanet:98919 Miller Fisher syndrome skos:exactMatch MedDRA:10049567 Unspecified -Orphanet:98919 Miller Fisher syndrome skos:exactMatch UMLS:C0393799 Unspecified -Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref OMIM:606367 Unspecified -Orphanet:169100 Immunodeficiency due to CD25 deficiency skos:exactMatch OMIM:606367 Unspecified -Orphanet:169100 Immunodeficiency due to CD25 deficiency skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:93292 Adenoma of pancreas oboInOwl:hasDbXref ICD10:D13.6 Unspecified -Orphanet:93292 Adenoma of pancreas oboInOwl:hasDbXref UMLS:C1142432 Unspecified -Orphanet:93292 Adenoma of pancreas oboInOwl:hasDbXref MESH:C538110 Unspecified -Orphanet:93292 Adenoma of pancreas oboInOwl:hasDbXref MedDRA:10058902 Unspecified -Orphanet:93292 Adenoma of pancreas skos:broadMatch ICD10:D13.6 Unspecified -Orphanet:93292 Adenoma of pancreas skos:exactMatch MedDRA:10058902 Unspecified -Orphanet:93292 Adenoma of pancreas skos:exactMatch MESH:C538110 Unspecified -Orphanet:93292 Adenoma of pancreas skos:exactMatch UMLS:C1142432 Unspecified -Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref OMIM:616873 Unspecified -Orphanet:317473 Pancytopenia due to IKZF1 mutations skos:exactMatch OMIM:616873 Unspecified -Orphanet:317473 Pancytopenia due to IKZF1 mutations skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:169105 Good syndrome oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:169105 Good syndrome oboInOwl:hasDbXref UMLS:C0221027 Unspecified -Orphanet:169105 Good syndrome skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:169105 Good syndrome skos:exactMatch UMLS:C0221027 Unspecified -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref OMIM:300853 Unspecified -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch OMIM:300853 Unspecified -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:329457 Distal arthrogryposis type 5D oboInOwl:hasDbXref OMIM:615065 Unspecified -Orphanet:329457 Distal arthrogryposis type 5D oboInOwl:hasDbXref ICD10:Q68.8 Unspecified -Orphanet:329457 Distal arthrogryposis type 5D skos:broadMatch ICD10:Q68.8 Unspecified -Orphanet:329457 Distal arthrogryposis type 5D skos:exactMatch OMIM:615065 Unspecified -Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref MedDRA:10024189 Unspecified -Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref UMLS:C0023269 Unspecified -Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref MESH:D007890 Unspecified -Orphanet:64720 Leiomyosarcoma skos:exactMatch MESH:D007890 Unspecified -Orphanet:64720 Leiomyosarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:64720 Leiomyosarcoma skos:exactMatch UMLS:C0023269 Unspecified -Orphanet:64720 Leiomyosarcoma skos:exactMatch MedDRA:10024189 Unspecified -Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref UMLS:C1846421 Unspecified -Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref MESH:C537880 Unspecified -Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref OMIM:607330 Unspecified -Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:46059 Lathosterolosis skos:exactMatch UMLS:C1846421 Unspecified -Orphanet:46059 Lathosterolosis skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:46059 Lathosterolosis skos:exactMatch OMIM:607330 Unspecified -Orphanet:46059 Lathosterolosis skos:exactMatch MESH:C537880 Unspecified -Orphanet:64722 Granulomatous mastitis oboInOwl:hasDbXref MESH:D058890 Unspecified -Orphanet:64722 Granulomatous mastitis oboInOwl:hasDbXref UMLS:C0405469 Unspecified -Orphanet:64722 Granulomatous mastitis oboInOwl:hasDbXref ICD10:N61 Unspecified -Orphanet:64722 Granulomatous mastitis skos:exactMatch UMLS:C0405469 Unspecified -Orphanet:64722 Granulomatous mastitis skos:broadMatch ICD10:N61 Unspecified -Orphanet:64722 Granulomatous mastitis skos:exactMatch MESH:D058890 Unspecified -Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome oboInOwl:hasDbXref OMIM:300219 Unspecified -Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch OMIM:300219 Unspecified -Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref OMIM:252270 Unspecified -Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref ICD10:D46.7 Unspecified -Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref OMIM:619041 Unspecified -Orphanet:495930 Familial monosomy 7 syndrome skos:narrowMatch OMIM:252270 Unspecified -Orphanet:495930 Familial monosomy 7 syndrome skos:narrowMatch OMIM:619041 Unspecified -Orphanet:495930 Familial monosomy 7 syndrome skos:broadMatch ICD10:D46.7 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:616165 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:615348 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:615731 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:256030 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:161800 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy skos:narrowMatch OMIM:161800 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy skos:narrowMatch OMIM:256030 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy skos:narrowMatch OMIM:615731 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy skos:narrowMatch OMIM:615348 Unspecified -Orphanet:171430 Severe congenital nemaline myopathy skos:narrowMatch OMIM:616165 Unspecified -Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:615731 Unspecified -Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:609284 Unspecified -Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:161800 Unspecified -Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:256030 Unspecified -Orphanet:171433 Intermediate nemaline myopathy skos:narrowMatch OMIM:615731 Unspecified -Orphanet:171433 Intermediate nemaline myopathy skos:narrowMatch OMIM:609284 Unspecified -Orphanet:171433 Intermediate nemaline myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:171433 Intermediate nemaline myopathy skos:narrowMatch OMIM:161800 Unspecified -Orphanet:171433 Intermediate nemaline myopathy skos:narrowMatch OMIM:256030 Unspecified -Orphanet:169110 Immunoglobulin heavy chain deficiency oboInOwl:hasDbXref UMLS:C0398692 Unspecified -Orphanet:169110 Immunoglobulin heavy chain deficiency oboInOwl:hasDbXref ICD10:D80.8 Unspecified -Orphanet:169110 Immunoglobulin heavy chain deficiency skos:exactMatch UMLS:C0398692 Unspecified -Orphanet:169110 Immunoglobulin heavy chain deficiency skos:broadMatch ICD10:D80.8 Unspecified -Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:610687 Unspecified -Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:161800 Unspecified -Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:256030 Unspecified -Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:609285 Unspecified -Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:615731 Unspecified -Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:616165 Unspecified -Orphanet:171436 Typical nemaline myopathy skos:narrowMatch OMIM:609285 Unspecified -Orphanet:171436 Typical nemaline myopathy skos:narrowMatch OMIM:256030 Unspecified -Orphanet:171436 Typical nemaline myopathy skos:narrowMatch OMIM:610687 Unspecified -Orphanet:171436 Typical nemaline myopathy skos:narrowMatch OMIM:161800 Unspecified -Orphanet:171436 Typical nemaline myopathy skos:narrowMatch OMIM:616165 Unspecified -Orphanet:171436 Typical nemaline myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:171436 Typical nemaline myopathy skos:narrowMatch OMIM:615731 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:615523 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:136800 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613271 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613268 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref UMLS:C0016781 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:610158 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613270 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613269 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613267 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613269 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613267 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613270 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:610158 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy skos:exactMatch UMLS:C0016781 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613268 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613271 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:615523 Unspecified -Orphanet:98974 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:136800 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:609284 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:609273 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref UMLS:C0546125 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:615731 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:617336 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:256030 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:609285 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:161800 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:161800 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:617336 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:256030 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:609285 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy skos:exactMatch UMLS:C0546125 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:615731 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:609284 Unspecified -Orphanet:171439 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:609273 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:609140 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref UMLS:C0339284 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:609141 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:122000 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:618031 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy skos:exactMatch UMLS:C0339284 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy skos:narrowMatch OMIM:609140 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy skos:exactMatch OMIM:122000 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy skos:narrowMatch OMIM:618031 Unspecified -Orphanet:98973 Posterior polymorphous corneal dystrophy skos:narrowMatch OMIM:609141 Unspecified -Orphanet:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:313400 Unspecified -Orphanet:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:271600 Unspecified -Orphanet:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:184100 Unspecified -Orphanet:93284 Spondyloepiphyseal dysplasia tarda skos:narrowMatch OMIM:184100 Unspecified -Orphanet:93284 Spondyloepiphyseal dysplasia tarda skos:narrowMatch OMIM:271600 Unspecified -Orphanet:93284 Spondyloepiphyseal dysplasia tarda skos:narrowMatch OMIM:313400 Unspecified -Orphanet:93284 Spondyloepiphyseal dysplasia tarda skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:617272 Unspecified -Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:231300 Unspecified -Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref UMLS:C0020302 Unspecified -Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:600975 Unspecified -Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:613085 Unspecified -Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:613086 Unspecified -Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref ICD10:Q15.0 Unspecified -Orphanet:98976 Congenital glaucoma skos:narrowMatch OMIM:613086 Unspecified -Orphanet:98976 Congenital glaucoma skos:exactMatch ICD10:Q15.0 Unspecified -Orphanet:98976 Congenital glaucoma skos:exactMatch OMIM:231300 Unspecified -Orphanet:98976 Congenital glaucoma skos:narrowMatch OMIM:600975 Unspecified -Orphanet:98976 Congenital glaucoma skos:exactMatch UMLS:C0020302 Unspecified -Orphanet:98976 Congenital glaucoma skos:narrowMatch OMIM:613085 Unspecified -Orphanet:98976 Congenital glaucoma skos:narrowMatch OMIM:617272 Unspecified -Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref UMLS:C1842149 Unspecified -Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref OMIM:608361 Unspecified -Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch OMIM:608361 Unspecified -Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch UMLS:C1842149 Unspecified -Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref OMIM:612847 Unspecified -Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref UMLS:C2748515 Unspecified -Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type skos:exactMatch UMLS:C2748515 Unspecified -Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type skos:broadMatch OMIM:612847 Unspecified -Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref OMIM:121700 Unspecified -Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref UMLS:C1562689 Unspecified -Orphanet:98975 Congenital hereditary endothelial dystrophy type I skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98975 Congenital hereditary endothelial dystrophy type I skos:exactMatch UMLS:C1562689 Unspecified -Orphanet:98975 Congenital hereditary endothelial dystrophy type I skos:exactMatch OMIM:121700 Unspecified -Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref OMIM:121850 Unspecified -Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref UMLS:C1562113 Unspecified -Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98970 Fleck corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98970 Fleck corneal dystrophy skos:exactMatch OMIM:121850 Unspecified -Orphanet:98970 Fleck corneal dystrophy skos:exactMatch UMLS:C1562113 Unspecified -Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref OMIM:617030 Unspecified -Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy skos:exactMatch OMIM:617030 Unspecified -Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref OMIM:217600 Unspecified -Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref UMLS:C1622427 Unspecified -Orphanet:98972 Central cloudy dystrophy of François skos:exactMatch UMLS:C1622427 Unspecified -Orphanet:98972 Central cloudy dystrophy of François skos:exactMatch OMIM:217600 Unspecified -Orphanet:98972 Central cloudy dystrophy of François skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref OMIM:612868 Unspecified -Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref UMLS:C2748502 Unspecified -Orphanet:98971 Posterior amorphous corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98971 Posterior amorphous corneal dystrophy skos:exactMatch UMLS:C2748502 Unspecified -Orphanet:98971 Posterior amorphous corneal dystrophy skos:exactMatch OMIM:612868 Unspecified -Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref MESH:D018215 Unspecified -Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.0 Unspecified -Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.4 Unspecified -Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.6 Unspecified -Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.8 Unspecified -Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref MedDRA:10004430 Unspecified -Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.1 Unspecified -Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.3 Unspecified -Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.5 Unspecified -Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.7 Unspecified -Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref UMLS:C0029417 Unspecified -Orphanet:58040 Osteoblastoma skos:exactMatch UMLS:C0029417 Unspecified -Orphanet:58040 Osteoblastoma skos:exactMatch MedDRA:10004430 Unspecified -Orphanet:58040 Osteoblastoma skos:narrowMatch ICD10:D16.4 Unspecified -Orphanet:58040 Osteoblastoma skos:narrowMatch ICD10:D16.8 Unspecified -Orphanet:58040 Osteoblastoma skos:narrowMatch ICD10:D16.6 Unspecified -Orphanet:58040 Osteoblastoma skos:narrowMatch ICD10:D16.0 Unspecified -Orphanet:58040 Osteoblastoma skos:exactMatch MESH:D018215 Unspecified -Orphanet:58040 Osteoblastoma skos:narrowMatch ICD10:D16.5 Unspecified -Orphanet:58040 Osteoblastoma skos:narrowMatch ICD10:D16.3 Unspecified -Orphanet:58040 Osteoblastoma skos:narrowMatch ICD10:D16.7 Unspecified -Orphanet:58040 Osteoblastoma skos:narrowMatch ICD10:D16.1 Unspecified -Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:610535 Unspecified -Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:608695 Unspecified -Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:231300 Unspecified -Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:611274 Unspecified -Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref MedDRA:10064032 Unspecified -Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:137750 Unspecified -Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:608696 Unspecified -Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref UMLS:C2981140 Unspecified -Orphanet:98977 Juvenile glaucoma skos:narrowMatch OMIM:608695 Unspecified -Orphanet:98977 Juvenile glaucoma skos:exactMatch MedDRA:10064032 Unspecified -Orphanet:98977 Juvenile glaucoma skos:narrowMatch OMIM:610535 Unspecified -Orphanet:98977 Juvenile glaucoma skos:exactMatch UMLS:C2981140 Unspecified -Orphanet:98977 Juvenile glaucoma skos:narrowMatch OMIM:608696 Unspecified -Orphanet:98977 Juvenile glaucoma skos:broadMatch OMIM:231300 Unspecified -Orphanet:98977 Juvenile glaucoma skos:narrowMatch OMIM:611274 Unspecified -Orphanet:98977 Juvenile glaucoma skos:narrowMatch OMIM:137750 Unspecified -Orphanet:456333 Hereditary neuroendocrine tumor of small intestine oboInOwl:hasDbXref ICD10:C17.9 Unspecified -Orphanet:456333 Hereditary neuroendocrine tumor of small intestine skos:broadMatch ICD10:C17.9 Unspecified -Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref UMLS:C2750442 Unspecified -Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref OMIM:613280 Unspecified -Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome skos:exactMatch OMIM:613280 Unspecified -Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome skos:exactMatch UMLS:C2750442 Unspecified -Orphanet:171442 Adult-onset nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:171442 Adult-onset nemaline myopathy oboInOwl:hasDbXref UMLS:C0546123 Unspecified -Orphanet:171442 Adult-onset nemaline myopathy skos:exactMatch UMLS:C0546123 Unspecified -Orphanet:171442 Adult-onset nemaline myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:700 Alopecia totalis oboInOwl:hasDbXref ICD10:L63.0 Unspecified -Orphanet:700 Alopecia totalis oboInOwl:hasDbXref UMLS:C0263504 Unspecified -Orphanet:700 Alopecia totalis oboInOwl:hasDbXref OMIM:610753 Unspecified -Orphanet:700 Alopecia totalis oboInOwl:hasDbXref MedDRA:10001766 Unspecified -Orphanet:700 Alopecia totalis oboInOwl:hasDbXref OMIM:300042 Unspecified -Orphanet:700 Alopecia totalis oboInOwl:hasDbXref OMIM:104000 Unspecified -Orphanet:700 Alopecia totalis skos:broadMatch OMIM:104000 Unspecified -Orphanet:700 Alopecia totalis skos:narrowMatch OMIM:610753 Unspecified -Orphanet:700 Alopecia totalis skos:narrowMatch OMIM:300042 Unspecified -Orphanet:700 Alopecia totalis skos:exactMatch UMLS:C0263504 Unspecified -Orphanet:700 Alopecia totalis skos:exactMatch MedDRA:10001766 Unspecified -Orphanet:700 Alopecia totalis skos:exactMatch ICD10:L63.0 Unspecified -Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref OMIM:609524 Unspecified -Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref UMLS:C1836050 Unspecified -Orphanet:171445 Muscle filaminopathy skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:171445 Muscle filaminopathy skos:exactMatch UMLS:C1836050 Unspecified -Orphanet:171445 Muscle filaminopathy skos:exactMatch OMIM:609524 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref OMIM:213900 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MedDRA:10067610 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref UMLS:C0205711 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MESH:D020371 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref OMIM:312080 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease skos:exactMatch UMLS:C0205711 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease skos:narrowMatch OMIM:213900 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease skos:exactMatch MedDRA:10067610 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease skos:exactMatch OMIM:312080 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease skos:exactMatch MESH:D020371 Unspecified -Orphanet:702 Pelizaeus-Merzbacher disease skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:701 Alopecia universalis oboInOwl:hasDbXref UMLS:C0263505 Unspecified -Orphanet:701 Alopecia universalis oboInOwl:hasDbXref OMIM:203655 Unspecified -Orphanet:701 Alopecia universalis oboInOwl:hasDbXref MedDRA:10001767 Unspecified -Orphanet:701 Alopecia universalis oboInOwl:hasDbXref OMIM:104000 Unspecified -Orphanet:701 Alopecia universalis oboInOwl:hasDbXref ICD10:L63.1 Unspecified -Orphanet:701 Alopecia universalis oboInOwl:hasDbXref MESH:C537055 Unspecified -Orphanet:701 Alopecia universalis oboInOwl:hasDbXref OMIM:610753 Unspecified -Orphanet:701 Alopecia universalis skos:narrowMatch OMIM:203655 Unspecified -Orphanet:701 Alopecia universalis skos:broadMatch OMIM:104000 Unspecified -Orphanet:701 Alopecia universalis skos:exactMatch UMLS:C0263505 Unspecified -Orphanet:701 Alopecia universalis skos:narrowMatch OMIM:610753 Unspecified -Orphanet:701 Alopecia universalis skos:exactMatch MedDRA:10001767 Unspecified -Orphanet:701 Alopecia universalis skos:exactMatch ICD10:L63.1 Unspecified -Orphanet:701 Alopecia universalis skos:exactMatch MESH:C537055 Unspecified -Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref MESH:C535474 Unspecified -Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref UMLS:C1275685 Unspecified -Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref OMIM:607541 Unspecified -Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98963 Granular corneal dystrophy type II skos:exactMatch OMIM:607541 Unspecified -Orphanet:98963 Granular corneal dystrophy type II skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98963 Granular corneal dystrophy type II skos:exactMatch MESH:C535474 Unspecified -Orphanet:98963 Granular corneal dystrophy type II skos:exactMatch UMLS:C1275685 Unspecified -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref ICD10:O26.8 Unspecified -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref OMIM:178995 Unspecified -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref MedDRA:10066100 Unspecified -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref UMLS:C0269680 Unspecified -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref MESH:C535817 Unspecified -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy skos:exactMatch UMLS:C0269680 Unspecified -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy skos:exactMatch MESH:C535817 Unspecified -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy skos:exactMatch MedDRA:10066100 Unspecified -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy skos:exactMatch OMIM:178995 Unspecified -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy skos:broadMatch ICD10:O26.8 Unspecified -Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref OMIM:121900 Unspecified -Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref UMLS:C1641846 Unspecified -Orphanet:98962 Granular corneal dystrophy type I skos:exactMatch UMLS:C1641846 Unspecified -Orphanet:98962 Granular corneal dystrophy type I skos:exactMatch OMIM:121900 Unspecified -Orphanet:98962 Granular corneal dystrophy type I skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref MESH:C538392 Unspecified -Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref OMIM:618184 Unspecified -Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref UMLS:C0011195 Unspecified -Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref OMIM:145900 Unspecified -Orphanet:64748 Dejerine-Sottas syndrome skos:exactMatch UMLS:C0011195 Unspecified -Orphanet:64748 Dejerine-Sottas syndrome skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:64748 Dejerine-Sottas syndrome skos:broadMatch OMIM:618184 Unspecified -Orphanet:64748 Dejerine-Sottas syndrome skos:exactMatch OMIM:145900 Unspecified -Orphanet:64748 Dejerine-Sottas syndrome skos:exactMatch MESH:C538392 Unspecified -Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref OMIM:611771 Unspecified -Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref ICD10:N07.8 Unspecified -Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref UMLS:C2673196 Unspecified -Orphanet:329481 Lipoprotein glomerulopathy skos:exactMatch UMLS:C2673196 Unspecified -Orphanet:329481 Lipoprotein glomerulopathy skos:broadMatch ICD10:N07.8 Unspecified -Orphanet:329481 Lipoprotein glomerulopathy skos:exactMatch OMIM:611771 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref OMIM:608471 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref UMLS:C2931650 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref MESH:C537881 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref UMLS:C1690006 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref OMIM:122200 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I skos:exactMatch OMIM:122200 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I skos:exactMatch UMLS:C2931650 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I skos:narrowMatch OMIM:608471 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I skos:exactMatch MESH:C537881 Unspecified -Orphanet:98964 Lattice corneal dystrophy type I skos:exactMatch UMLS:C1690006 Unspecified -Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref OMIM:608470 Unspecified -Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref UMLS:C0339278 Unspecified -Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref MESH:C535476 Unspecified -Orphanet:98961 Reis-Bücklers corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98961 Reis-Bücklers corneal dystrophy skos:exactMatch MESH:C535476 Unspecified -Orphanet:98961 Reis-Bücklers corneal dystrophy skos:exactMatch UMLS:C0339278 Unspecified -Orphanet:98961 Reis-Bücklers corneal dystrophy skos:exactMatch OMIM:608470 Unspecified -Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref MESH:C535942 Unspecified -Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref OMIM:602082 Unspecified -Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref UMLS:C1562894 Unspecified -Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98960 Thiel-Behnke corneal dystrophy skos:exactMatch OMIM:602082 Unspecified -Orphanet:98960 Thiel-Behnke corneal dystrophy skos:exactMatch MESH:C535942 Unspecified -Orphanet:98960 Thiel-Behnke corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98960 Thiel-Behnke corneal dystrophy skos:exactMatch UMLS:C1562894 Unspecified -Orphanet:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref ICD10:J93.1 Unspecified -Orphanet:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref OMIM:173600 Unspecified -Orphanet:2903 Familial spontaneous pneumothorax skos:exactMatch OMIM:173600 Unspecified -Orphanet:2903 Familial spontaneous pneumothorax skos:broadMatch ICD10:J93.1 Unspecified -Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref UMLS:C0085404 Unspecified -Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref UMLS:C1510415 Unspecified -Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref MedDRA:10053869 Unspecified -Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref ICD10:D47.7 Unspecified -Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref MESH:D016878 Unspecified -Orphanet:2905 POEMS syndrome skos:exactMatch MESH:D016878 Unspecified -Orphanet:2905 POEMS syndrome skos:broadMatch ICD10:D47.7 Unspecified -Orphanet:2905 POEMS syndrome skos:exactMatch UMLS:C0085404 Unspecified -Orphanet:2905 POEMS syndrome skos:exactMatch UMLS:C1510415 Unspecified -Orphanet:2905 POEMS syndrome skos:exactMatch MedDRA:10053869 Unspecified -Orphanet:329478 Adult-onset distal myopathy due to VCP mutation oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:329478 Adult-onset distal myopathy due to VCP mutation skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref OMIM:604864 Unspecified -Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch OMIM:604864 Unspecified -Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.2 Unspecified -Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref OMIM:601200 Unspecified -Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref MESH:C537516 Unspecified -Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.9 Unspecified -Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 Unspecified -Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.3 Unspecified -Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref UMLS:C1266144 Unspecified -Orphanet:64742 Pleuropulmonary blastoma skos:exactMatch UMLS:C1266144 Unspecified -Orphanet:64742 Pleuropulmonary blastoma skos:narrowMatch ICD10:C34.2 Unspecified -Orphanet:64742 Pleuropulmonary blastoma skos:exactMatch MESH:C537516 Unspecified -Orphanet:64742 Pleuropulmonary blastoma skos:exactMatch OMIM:601200 Unspecified -Orphanet:64742 Pleuropulmonary blastoma skos:narrowMatch ICD10:C34.1 Unspecified -Orphanet:64742 Pleuropulmonary blastoma skos:narrowMatch ICD10:C34.3 Unspecified -Orphanet:64742 Pleuropulmonary blastoma skos:narrowMatch ICD10:C34.9 Unspecified -Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref OMIM:121800 Unspecified -Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref MESH:C535475 Unspecified -Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref UMLS:C0271287 Unspecified -Orphanet:98967 Schnyder corneal dystrophy skos:exactMatch MESH:C535475 Unspecified -Orphanet:98967 Schnyder corneal dystrophy skos:exactMatch UMLS:C0271287 Unspecified -Orphanet:98967 Schnyder corneal dystrophy skos:exactMatch OMIM:121800 Unspecified -Orphanet:98967 Schnyder corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.8 Unspecified -Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.2 Unspecified -Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref UMLS:C0206629 Unspecified -Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 Unspecified -Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.3 Unspecified -Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.9 Unspecified -Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref MESH:D018202 Unspecified -Orphanet:64741 Pulmonary blastoma skos:exactMatch MESH:D018202 Unspecified -Orphanet:64741 Pulmonary blastoma skos:exactMatch UMLS:C0206629 Unspecified -Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref UMLS:C1636149 Unspecified -Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref OMIM:217800 Unspecified -Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref UMLS:C0024439 Unspecified -Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref MedDRA:10025406 Unspecified -Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98969 Macular corneal dystrophy skos:exactMatch UMLS:C1636149 Unspecified -Orphanet:98969 Macular corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98969 Macular corneal dystrophy skos:exactMatch OMIM:217800 Unspecified -Orphanet:98969 Macular corneal dystrophy skos:exactMatch UMLS:C0024439 Unspecified -Orphanet:98969 Macular corneal dystrophy skos:exactMatch MedDRA:10025406 Unspecified -Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref UMLS:C1510479 Unspecified -Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref MedDRA:10063020 Unspecified -Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref ICD10:G54.5 Unspecified -Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref OMIM:162100 Unspecified -Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref UMLS:C0221759 Unspecified -Orphanet:2901 Neuralgic amyotrophy skos:narrowMatch OMIM:162100 Unspecified -Orphanet:2901 Neuralgic amyotrophy skos:exactMatch UMLS:C1510479 Unspecified -Orphanet:2901 Neuralgic amyotrophy skos:exactMatch MedDRA:10063020 Unspecified -Orphanet:2901 Neuralgic amyotrophy skos:broadMatch ICD10:G54.5 Unspecified -Orphanet:2901 Neuralgic amyotrophy skos:exactMatch UMLS:C0221759 Unspecified -Orphanet:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref UMLS:C0008680 Unspecified -Orphanet:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref UMLS:C2930941 Unspecified -Orphanet:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 Unspecified -Orphanet:2902 Idiopathic chronic eosinophilic pneumonia skos:exactMatch UMLS:C2930941 Unspecified -Orphanet:2902 Idiopathic chronic eosinophilic pneumonia skos:broadMatch ICD10:J82 Unspecified -Orphanet:2902 Idiopathic chronic eosinophilic pneumonia skos:exactMatch UMLS:C0008680 Unspecified -Orphanet:31827 Paraquat poisoning oboInOwl:hasDbXref ICD10:T60.3 Unspecified -Orphanet:31827 Paraquat poisoning skos:broadMatch ICD10:T60.3 Unspecified -Orphanet:704 Pemphigus vulgaris oboInOwl:hasDbXref UMLS:C0030809 Unspecified -Orphanet:704 Pemphigus vulgaris oboInOwl:hasDbXref ICD10:L10.0 Unspecified -Orphanet:704 Pemphigus vulgaris oboInOwl:hasDbXref MedDRA:10052802 Unspecified -Orphanet:704 Pemphigus vulgaris oboInOwl:hasDbXref OMIM:169610 Unspecified -Orphanet:704 Pemphigus vulgaris skos:exactMatch MedDRA:10052802 Unspecified -Orphanet:704 Pemphigus vulgaris skos:exactMatch ICD10:L10.0 Unspecified -Orphanet:704 Pemphigus vulgaris skos:narrowMatch OMIM:169610 Unspecified -Orphanet:704 Pemphigus vulgaris skos:exactMatch UMLS:C0030809 Unspecified -Orphanet:703 Bullous pemphigoid oboInOwl:hasDbXref MESH:D010391 Unspecified -Orphanet:703 Bullous pemphigoid oboInOwl:hasDbXref ICD10:L12.0 Unspecified -Orphanet:703 Bullous pemphigoid oboInOwl:hasDbXref UMLS:C0030805 Unspecified -Orphanet:703 Bullous pemphigoid skos:exactMatch MESH:D010391 Unspecified -Orphanet:703 Bullous pemphigoid skos:exactMatch UMLS:C0030805 Unspecified -Orphanet:703 Bullous pemphigoid skos:exactMatch ICD10:L12.0 Unspecified -Orphanet:31826 Ethylene glycol poisoning oboInOwl:hasDbXref UMLS:C0413194 Unspecified -Orphanet:31826 Ethylene glycol poisoning oboInOwl:hasDbXref ICD10:T52.8 Unspecified -Orphanet:31826 Ethylene glycol poisoning skos:exactMatch UMLS:C0413194 Unspecified -Orphanet:31826 Ethylene glycol poisoning skos:broadMatch ICD10:T52.8 Unspecified -Orphanet:2907 Hereditary acrokeratotic poikiloderma oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:2907 Hereditary acrokeratotic poikiloderma oboInOwl:hasDbXref UMLS:C0406556 Unspecified -Orphanet:2907 Hereditary acrokeratotic poikiloderma skos:exactMatch UMLS:C0406556 Unspecified -Orphanet:2907 Hereditary acrokeratotic poikiloderma skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.1 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.3 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.9 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.7 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref MedDRA:10035148 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref UMLS:C0032064 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.0 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.2 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.8 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref MESH:D010930 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref MESH:D015009 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref UMLS:C0043407 Unspecified -Orphanet:707 Plague oboInOwl:hasDbXref MedDRA:10061416 Unspecified -Orphanet:707 Plague skos:exactMatch MESH:D015009 Unspecified -Orphanet:707 Plague skos:exactMatch MedDRA:10061416 Unspecified -Orphanet:707 Plague skos:narrowMatch ICD10:A20.2 Unspecified -Orphanet:707 Plague skos:narrowMatch ICD10:A20.0 Unspecified -Orphanet:707 Plague skos:narrowMatch ICD10:A20.8 Unspecified -Orphanet:707 Plague skos:exactMatch UMLS:C0043407 Unspecified -Orphanet:707 Plague skos:exactMatch MESH:D010930 Unspecified -Orphanet:707 Plague skos:exactMatch UMLS:C0032064 Unspecified -Orphanet:707 Plague skos:narrowMatch ICD10:A20.3 Unspecified -Orphanet:707 Plague skos:narrowMatch ICD10:A20.1 Unspecified -Orphanet:707 Plague skos:narrowMatch ICD10:A20.9 Unspecified -Orphanet:707 Plague skos:narrowMatch ICD10:A20.7 Unspecified -Orphanet:707 Plague skos:exactMatch MedDRA:10035148 Unspecified -Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0406557 Unspecified -Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 Unspecified -Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref MESH:C536321 Unspecified -Orphanet:2908 Kindler epidermolysis bullosa skos:exactMatch MESH:C536321 Unspecified -Orphanet:2908 Kindler epidermolysis bullosa skos:broadMatch ICD10:Q81.8 Unspecified -Orphanet:2908 Kindler epidermolysis bullosa skos:exactMatch UMLS:C0406557 Unspecified -Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref UMLS:C0032339 Unspecified -Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref MESH:D011038 Unspecified -Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref OMIM:268400 Unspecified -Orphanet:2909 Rothmund-Thomson syndrome skos:exactMatch MESH:D011038 Unspecified -Orphanet:2909 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 Unspecified -Orphanet:2909 Rothmund-Thomson syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:2909 Rothmund-Thomson syndrome skos:exactMatch UMLS:C0032339 Unspecified -Orphanet:31825 Methanol poisoning oboInOwl:hasDbXref ICD10:T51.1 Unspecified -Orphanet:31825 Methanol poisoning skos:exactMatch ICD10:T51.1 Unspecified -Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref MedDRA:10044388 Unspecified -Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref ICD10:D80.7 Unspecified -Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref UMLS:C0272238 Unspecified -Orphanet:169139 Transient hypogammaglobulinemia of infancy skos:exactMatch MedDRA:10044388 Unspecified -Orphanet:169139 Transient hypogammaglobulinemia of infancy skos:exactMatch UMLS:C0272238 Unspecified -Orphanet:169139 Transient hypogammaglobulinemia of infancy skos:exactMatch ICD10:D80.7 Unspecified -Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref UMLS:C0339285 Unspecified -Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref MedDRA:10053678 Unspecified -Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref MESH:D057129 Unspecified -Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref UMLS:C1096100 Unspecified -Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref ICD10:H21.1 Unspecified -Orphanet:64734 Iridocorneal endothelial syndrome skos:exactMatch MESH:D057129 Unspecified -Orphanet:64734 Iridocorneal endothelial syndrome skos:exactMatch MedDRA:10053678 Unspecified -Orphanet:64734 Iridocorneal endothelial syndrome skos:exactMatch UMLS:C1096100 Unspecified -Orphanet:64734 Iridocorneal endothelial syndrome skos:broadMatch ICD10:H21.1 Unspecified -Orphanet:64734 Iridocorneal endothelial syndrome skos:exactMatch UMLS:C0339285 Unspecified -Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref OMIM:122100 Unspecified -Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref MESH:D053559 Unspecified -Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref OMIM:618767 Unspecified -Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref UMLS:C0339277 Unspecified -Orphanet:98954 Meesmann corneal dystrophy skos:exactMatch UMLS:C0339277 Unspecified -Orphanet:98954 Meesmann corneal dystrophy skos:exactMatch OMIM:618767 Unspecified -Orphanet:98954 Meesmann corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98954 Meesmann corneal dystrophy skos:exactMatch OMIM:122100 Unspecified -Orphanet:98954 Meesmann corneal dystrophy skos:exactMatch MESH:D053559 Unspecified -Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref MedDRA:10033266 Unspecified -Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref MESH:D016471 Unspecified -Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref UMLS:C0085083 Unspecified -Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref ICD10:N98.1 Unspecified -Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref OMIM:608115 Unspecified -Orphanet:64739 Ovarian hyperstimulation syndrome skos:exactMatch ICD10:N98.1 Unspecified -Orphanet:64739 Ovarian hyperstimulation syndrome skos:exactMatch OMIM:608115 Unspecified -Orphanet:64739 Ovarian hyperstimulation syndrome skos:exactMatch UMLS:C0085083 Unspecified -Orphanet:64739 Ovarian hyperstimulation syndrome skos:exactMatch MESH:D016471 Unspecified -Orphanet:64739 Ovarian hyperstimulation syndrome skos:exactMatch MedDRA:10033266 Unspecified -Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref OMIM:612867 Unspecified -Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref UMLS:C2748503 Unspecified -Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98959 Subepithelial mucinous corneal dystrophy skos:exactMatch OMIM:612867 Unspecified -Orphanet:98959 Subepithelial mucinous corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98959 Subepithelial mucinous corneal dystrophy skos:exactMatch UMLS:C2748503 Unspecified -Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref OMIM:615073 Unspecified -Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type skos:exactMatch OMIM:615073 Unspecified -Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref UMLS:C0521723 Unspecified -Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref OMIM:121820 Unspecified -Orphanet:98956 Epithelial basement membrane dystrophy skos:exactMatch UMLS:C0521723 Unspecified -Orphanet:98956 Epithelial basement membrane dystrophy skos:exactMatch OMIM:121820 Unspecified -Orphanet:98956 Epithelial basement membrane dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref UMLS:C2749050 Unspecified -Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref OMIM:300778 Unspecified -Orphanet:98955 Lisch epithelial corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98955 Lisch epithelial corneal dystrophy skos:exactMatch UMLS:C2749050 Unspecified -Orphanet:98955 Lisch epithelial corneal dystrophy skos:exactMatch OMIM:300778 Unspecified -Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref MedDRA:10036012 Unspecified -Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref UMLS:C0032371 Unspecified -Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.0 Unspecified -Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.4 Unspecified -Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.2 Unspecified -Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref MESH:D011051 Unspecified -Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.3 Unspecified -Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.1 Unspecified -Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.9 Unspecified -Orphanet:2912 Poliomyelitis skos:exactMatch MESH:D011051 Unspecified -Orphanet:2912 Poliomyelitis skos:narrowMatch ICD10:A80.4 Unspecified -Orphanet:2912 Poliomyelitis skos:narrowMatch ICD10:A80.2 Unspecified -Orphanet:2912 Poliomyelitis skos:narrowMatch ICD10:A80.0 Unspecified -Orphanet:2912 Poliomyelitis skos:narrowMatch ICD10:A80.9 Unspecified -Orphanet:2912 Poliomyelitis skos:narrowMatch ICD10:A80.3 Unspecified -Orphanet:2912 Poliomyelitis skos:narrowMatch ICD10:A80.1 Unspecified -Orphanet:2912 Poliomyelitis skos:exactMatch MedDRA:10036012 Unspecified -Orphanet:2912 Poliomyelitis skos:exactMatch UMLS:C0032371 Unspecified -Orphanet:98958 Climatic droplet keratopathy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98958 Climatic droplet keratopathy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref MESH:C535480 Unspecified -Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref OMIM:204870 Unspecified -Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref UMLS:C0339273 Unspecified -Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:98957 Gelatinous drop-like corneal dystrophy skos:exactMatch MESH:C535480 Unspecified -Orphanet:98957 Gelatinous drop-like corneal dystrophy skos:exactMatch UMLS:C0339273 Unspecified -Orphanet:98957 Gelatinous drop-like corneal dystrophy skos:exactMatch OMIM:204870 Unspecified -Orphanet:98957 Gelatinous drop-like corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref OMIM:265450 Unspecified -Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref MESH:D011668 Unspecified -Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref UMLS:C0034091 Unspecified -Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref MedDRA:10037458 Unspecified -Orphanet:31837 Pulmonary venoocclusive disease skos:exactMatch MESH:D011668 Unspecified -Orphanet:31837 Pulmonary venoocclusive disease skos:exactMatch UMLS:C0034091 Unspecified -Orphanet:31837 Pulmonary venoocclusive disease skos:exactMatch MedDRA:10037458 Unspecified -Orphanet:31837 Pulmonary venoocclusive disease skos:exactMatch OMIM:265450 Unspecified -Orphanet:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref UMLS:C1842025 Unspecified -Orphanet:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref OMIM:137763 Unspecified -Orphanet:2085 Glaucoma-sleep apnea syndrome skos:exactMatch OMIM:137763 Unspecified -Orphanet:2085 Glaucoma-sleep apnea syndrome skos:exactMatch UMLS:C1842025 Unspecified -Orphanet:2086 Optic pathway glioma oboInOwl:hasDbXref UMLS:C0796418 Unspecified -Orphanet:2086 Optic pathway glioma oboInOwl:hasDbXref ICD10:D33.3 Unspecified -Orphanet:2086 Optic pathway glioma skos:broadMatch ICD10:D33.3 Unspecified -Orphanet:2086 Optic pathway glioma skos:exactMatch UMLS:C0796418 Unspecified -Orphanet:276402 Limbic encephalitis with caspr2 antibodies oboInOwl:hasDbXref ICD10:G13.1 Unspecified -Orphanet:276402 Limbic encephalitis with caspr2 antibodies skos:broadMatch ICD10:G13.1 Unspecified -Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref UMLS:C1855217 Unspecified -Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref OMIM:250230 Unspecified -Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref ICD10:Q78.5 Unspecified -Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type skos:exactMatch UMLS:C1855217 Unspecified -Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type skos:broadMatch ICD10:Q78.5 Unspecified -Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type skos:exactMatch OMIM:250230 Unspecified -Orphanet:96369 Early-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.8 Unspecified -Orphanet:96369 Early-onset schizophrenia skos:broadMatch ICD10:F20.8 Unspecified -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref OMIM:609325 Unspecified -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref ICD10:Q77.3 Unspecified -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref UMLS:C1836307 Unspecified -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch UMLS:C1836307 Unspecified -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses skos:broadMatch ICD10:Q77.3 Unspecified -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch OMIM:609325 Unspecified -Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref OMIM:227810 Unspecified -Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref UMLS:C3495427 Unspecified -Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:2088 Fanconi-Bickel syndrome skos:exactMatch OMIM:227810 Unspecified -Orphanet:2088 Fanconi-Bickel syndrome skos:exactMatch UMLS:C3495427 Unspecified -Orphanet:2088 Fanconi-Bickel syndrome skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref OMIM:240600 Unspecified -Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref UMLS:C1855861 Unspecified -Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency skos:exactMatch UMLS:C1855861 Unspecified -Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency skos:exactMatch OMIM:240600 Unspecified -Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref OMIM:300905 Unspecified -Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 skos:exactMatch OMIM:300905 Unspecified -Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref ICD10:K76.8 Unspecified -Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref OMIM:614156 Unspecified -Orphanet:276405 Hyperbiliverdinemia skos:broadMatch ICD10:K76.8 Unspecified -Orphanet:276405 Hyperbiliverdinemia skos:exactMatch OMIM:614156 Unspecified -Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref OMIM:615185 Unspecified -Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F skos:exactMatch OMIM:615185 Unspecified -Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:306776 Sporadic hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 Unspecified -Orphanet:306776 Sporadic hyperekplexia skos:broadMatch ICD10:G25.8 Unspecified -Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboInOwl:hasDbXref OMIM:615966 Unspecified -Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboInOwl:hasDbXref ICD10:D81.1 Unspecified -Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency skos:broadMatch ICD10:D81.1 Unspecified -Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch OMIM:615966 Unspecified -Orphanet:314399 Autosomal dominant aplasia and myelodysplasia oboInOwl:hasDbXref ICD10:D61.0 Unspecified -Orphanet:314399 Autosomal dominant aplasia and myelodysplasia oboInOwl:hasDbXref OMIM:614675 Unspecified -Orphanet:314399 Autosomal dominant aplasia and myelodysplasia skos:broadMatch ICD10:D61.0 Unspecified -Orphanet:314399 Autosomal dominant aplasia and myelodysplasia skos:exactMatch OMIM:614675 Unspecified -Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:614813 Unspecified -Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:broadMatch ICD10:Q87.1 Unspecified -Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:exactMatch OMIM:614813 Unspecified -Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616878 Unspecified -Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch OMIM:616878 Unspecified -Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:444316 Idiopathic phalangeal acro-osteolysis oboInOwl:hasDbXref ICD10:M89.5 Unspecified -Orphanet:444316 Idiopathic phalangeal acro-osteolysis skos:broadMatch ICD10:M89.5 Unspecified -Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref OMIM:600361 Unspecified -Orphanet:64751 Hereditary motor and sensory neuropathy type 5 skos:exactMatch OMIM:600361 Unspecified -Orphanet:64751 Hereditary motor and sensory neuropathy type 5 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref ICD10:G60.2 Unspecified -Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref OMIM:615217 Unspecified -Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref OMIM:606002 Unspecified -Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 skos:broadMatch ICD10:G60.2 Unspecified -Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 skos:narrowMatch OMIM:615217 Unspecified -Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 skos:narrowMatch OMIM:606002 Unspecified -Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement oboInOwl:hasDbXref ICD10:Q04.3 Unspecified -Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement oboInOwl:hasDbXref OMIM:615191 Unspecified -Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch OMIM:615191 Unspecified -Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement skos:broadMatch ICD10:Q04.3 Unspecified -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS:C0002768 Unspecified -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref OMIM:608654 Unspecified -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref MESH:D000699 Unspecified -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS:C0020075 Unspecified -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 skos:exactMatch UMLS:C0020075 Unspecified -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 skos:exactMatch MESH:D000699 Unspecified -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 skos:exactMatch UMLS:C0002768 Unspecified -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 skos:exactMatch OMIM:608654 Unspecified -Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref UMLS:C0263579 Unspecified -Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref UMLS:C1858042 Unspecified -Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref ICD10:D22.5 Unspecified -Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref OMIM:604919 Unspecified -Orphanet:64755 Becker nevus syndrome skos:exactMatch UMLS:C1858042 Unspecified -Orphanet:64755 Becker nevus syndrome skos:exactMatch UMLS:C0263579 Unspecified -Orphanet:64755 Becker nevus syndrome skos:exactMatch OMIM:604919 Unspecified -Orphanet:64755 Becker nevus syndrome skos:broadMatch ICD10:D22.5 Unspecified -Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref UMLS:C0265987 Unspecified -Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref OMIM:617025 Unspecified -Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref ICD10:Q82.5 Unspecified -Orphanet:64754 Nevus comedonicus syndrome skos:broadMatch ICD10:Q82.5 Unspecified -Orphanet:64754 Nevus comedonicus syndrome skos:exactMatch UMLS:C0265987 Unspecified -Orphanet:64754 Nevus comedonicus syndrome skos:exactMatch OMIM:617025 Unspecified -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref MESH:D020790 Unspecified -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 Unspecified -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref OMIM:125700 Unspecified -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref OMIM:304900 Unspecified -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref UMLS:C0687720 Unspecified -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref MedDRA:10068587 Unspecified -Orphanet:178029 Central diabetes insipidus skos:exactMatch MESH:D020790 Unspecified -Orphanet:178029 Central diabetes insipidus skos:narrowMatch OMIM:304900 Unspecified -Orphanet:178029 Central diabetes insipidus skos:narrowMatch OMIM:125700 Unspecified -Orphanet:178029 Central diabetes insipidus skos:broadMatch ICD10:E23.2 Unspecified -Orphanet:178029 Central diabetes insipidus skos:exactMatch MedDRA:10068587 Unspecified -Orphanet:178029 Central diabetes insipidus skos:exactMatch UMLS:C0687720 Unspecified -Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome oboInOwl:hasDbXref OMIM:616875 Unspecified -Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:exactMatch OMIM:616875 Unspecified -Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref OMIM:127600 Unspecified -Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref UMLS:C0265966 Unspecified -Orphanet:352657 Hereditary benign intraepithelial dyskeratosis skos:exactMatch OMIM:127600 Unspecified -Orphanet:352657 Hereditary benign intraepithelial dyskeratosis skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:352657 Hereditary benign intraepithelial dyskeratosis skos:exactMatch UMLS:C0265966 Unspecified -Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome oboInOwl:hasDbXref OMIM:615491 Unspecified -Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch OMIM:615491 Unspecified -Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref ICD10:L10.8 Unspecified -Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref UMLS:C1112570 Unspecified -Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref MedDRA:10057056 Unspecified -Orphanet:63455 Paraneoplastic pemphigus skos:exactMatch UMLS:C1112570 Unspecified -Orphanet:63455 Paraneoplastic pemphigus skos:exactMatch MedDRA:10057056 Unspecified -Orphanet:63455 Paraneoplastic pemphigus skos:broadMatch ICD10:L10.8 Unspecified -Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression oboInOwl:hasDbXref ICD10:G40.2 Unspecified -Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:broadMatch ICD10:G40.2 Unspecified -Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency oboInOwl:hasDbXref OMIM:613796 Unspecified -Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency skos:exactMatch OMIM:613796 Unspecified -Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:519930 Fungal keratitis oboInOwl:hasDbXref ICD10:H16.8 Unspecified -Orphanet:519930 Fungal keratitis skos:broadMatch ICD10:H16.8 Unspecified -Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oboInOwl:hasDbXref OMIM:615225 Unspecified -Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:exactMatch OMIM:615225 Unspecified -Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213792 Adenosarcoma of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:213792 Adenosarcoma of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:213792 Adenosarcoma of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome oboInOwl:hasDbXref OMIM:614116 Unspecified -Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome skos:exactMatch OMIM:614116 Unspecified -Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease oboInOwl:hasDbXref OMIM:616263 Unspecified -Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease skos:exactMatch OMIM:616263 Unspecified -Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref OMIM:615959 Unspecified -Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref UMLS:C0410204 Unspecified -Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref UMLS:C3645536 Unspecified -Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref OMIM:255200 Unspecified -Orphanet:169186 Autosomal recessive centronuclear myopathy skos:narrowMatch OMIM:615959 Unspecified -Orphanet:169186 Autosomal recessive centronuclear myopathy skos:exactMatch UMLS:C3645536 Unspecified -Orphanet:169186 Autosomal recessive centronuclear myopathy skos:narrowMatch OMIM:255200 Unspecified -Orphanet:169186 Autosomal recessive centronuclear myopathy skos:exactMatch UMLS:C0410204 Unspecified -Orphanet:169186 Autosomal recessive centronuclear myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:391327 X-linked calvarial hyperostosis oboInOwl:hasDbXref ICD10:M85.2 Unspecified -Orphanet:391327 X-linked calvarial hyperostosis oboInOwl:hasDbXref OMIM:302030 Unspecified -Orphanet:391327 X-linked calvarial hyperostosis skos:broadMatch ICD10:M85.2 Unspecified -Orphanet:391327 X-linked calvarial hyperostosis skos:exactMatch OMIM:302030 Unspecified -Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref UMLS:C0086922 Unspecified -Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref UMLS:C0034152 Unspecified -Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref ICD10:D69.0 Unspecified -Orphanet:761 Immunoglobulin A vasculitis skos:broadMatch ICD10:D69.0 Unspecified -Orphanet:761 Immunoglobulin A vasculitis skos:exactMatch UMLS:C0086922 Unspecified -Orphanet:761 Immunoglobulin A vasculitis skos:exactMatch UMLS:C0034152 Unspecified -Orphanet:764 Pyomyositis oboInOwl:hasDbXref MESH:D052880 Unspecified -Orphanet:764 Pyomyositis oboInOwl:hasDbXref UMLS:C1704275 Unspecified -Orphanet:764 Pyomyositis oboInOwl:hasDbXref ICD10:M60.0 Unspecified -Orphanet:764 Pyomyositis oboInOwl:hasDbXref UMLS:C0041188 Unspecified -Orphanet:764 Pyomyositis oboInOwl:hasDbXref MedDRA:10037652 Unspecified -Orphanet:764 Pyomyositis skos:exactMatch UMLS:C1704275 Unspecified -Orphanet:764 Pyomyositis skos:exactMatch MESH:D052880 Unspecified -Orphanet:764 Pyomyositis skos:exactMatch UMLS:C0041188 Unspecified -Orphanet:764 Pyomyositis skos:broadMatch ICD10:M60.0 Unspecified -Orphanet:764 Pyomyositis skos:exactMatch MedDRA:10037652 Unspecified -Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref MESH:D058631 Unspecified -Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref OMIM:265800 Unspecified -Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref ICD10:Q78.8 Unspecified -Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref UMLS:C0238402 Unspecified -Orphanet:763 Pycnodysostosis skos:exactMatch OMIM:265800 Unspecified -Orphanet:763 Pycnodysostosis skos:exactMatch UMLS:C0238402 Unspecified -Orphanet:763 Pycnodysostosis skos:exactMatch MESH:D058631 Unspecified -Orphanet:763 Pycnodysostosis skos:broadMatch ICD10:Q78.8 Unspecified -Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref ICD10:D55.2 Unspecified -Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref OMIM:266200 Unspecified -Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref UMLS:C0340968 Unspecified -Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch OMIM:266200 Unspecified -Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch UMLS:C0340968 Unspecified -Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:broadMatch ICD10:D55.2 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E74.4 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:608782 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref MESH:D015325 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:246900 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C2936911 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:245349 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0034345 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:312170 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:614111 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536257 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:245348 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:246900 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:245349 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency skos:broadMatch ICD10:E74.4 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency skos:exactMatch MESH:C536257 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:608782 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:614111 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency skos:exactMatch UMLS:C2936911 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency skos:exactMatch MESH:D015325 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:245348 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency skos:exactMatch UMLS:C0034345 Unspecified -Orphanet:765 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:312170 Unspecified -Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref MESH:D010488 Unspecified -Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref MedDRA:10036024 Unspecified -Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 Unspecified -Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref UMLS:C0031036 Unspecified -Orphanet:767 Polyarteritis nodosa skos:exactMatch MedDRA:10036024 Unspecified -Orphanet:767 Polyarteritis nodosa skos:exactMatch ICD10:M30.0 Unspecified -Orphanet:767 Polyarteritis nodosa skos:exactMatch UMLS:C0031036 Unspecified -Orphanet:767 Polyarteritis nodosa skos:exactMatch MESH:D010488 Unspecified -Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref OMIM:219150 Unspecified -Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref OMIM:614438 Unspecified -Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref UMLS:C0268354 Unspecified -Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref MESH:C535990 Unspecified -Orphanet:2962 De Barsy syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:2962 De Barsy syndrome skos:exactMatch UMLS:C0268354 Unspecified -Orphanet:2962 De Barsy syndrome skos:narrowMatch OMIM:614438 Unspecified -Orphanet:2962 De Barsy syndrome skos:exactMatch MESH:C535990 Unspecified -Orphanet:2962 De Barsy syndrome skos:narrowMatch OMIM:219150 Unspecified -Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 Unspecified -Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref UMLS:C1834558 Unspecified -Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref OMIM:160150 Unspecified -Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref OMIM:614408 Unspecified -Orphanet:169189 Autosomal dominant centronuclear myopathy skos:exactMatch OMIM:160150 Unspecified -Orphanet:169189 Autosomal dominant centronuclear myopathy skos:broadMatch ICD10:G71.2 Unspecified -Orphanet:169189 Autosomal dominant centronuclear myopathy skos:narrowMatch OMIM:614408 Unspecified -Orphanet:169189 Autosomal dominant centronuclear myopathy skos:exactMatch UMLS:C1834558 Unspecified -Orphanet:352636 Phalangeal microgeodic syndrome oboInOwl:hasDbXref ICD10:M89.5 Unspecified -Orphanet:352636 Phalangeal microgeodic syndrome skos:broadMatch ICD10:M89.5 Unspecified -Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref ICD10:D81.5 Unspecified -Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref OMIM:613179 Unspecified -Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0268125 Unspecified -Orphanet:760 Purine nucleoside phosphorylase deficiency skos:exactMatch UMLS:C0268125 Unspecified -Orphanet:760 Purine nucleoside phosphorylase deficiency skos:exactMatch OMIM:613179 Unspecified -Orphanet:760 Purine nucleoside phosphorylase deficiency skos:exactMatch ICD10:D81.5 Unspecified -Orphanet:2969 Proteus-like syndrome oboInOwl:hasDbXref ICD10:Q87.3 Unspecified -Orphanet:2969 Proteus-like syndrome oboInOwl:hasDbXref OMIM:158350 Unspecified -Orphanet:2969 Proteus-like syndrome oboInOwl:hasDbXref UMLS:C1866398 Unspecified -Orphanet:2969 Proteus-like syndrome skos:broadMatch OMIM:158350 Unspecified -Orphanet:2969 Proteus-like syndrome skos:exactMatch UMLS:C1866398 Unspecified -Orphanet:2969 Proteus-like syndrome skos:broadMatch ICD10:Q87.3 Unspecified -Orphanet:306734 Primary dystonia, DYT21 type oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:306734 Primary dystonia, DYT21 type oboInOwl:hasDbXref OMIM:614588 Unspecified -Orphanet:306734 Primary dystonia, DYT21 type skos:exactMatch OMIM:614588 Unspecified -Orphanet:306734 Primary dystonia, DYT21 type skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:2965 Prolactinoma oboInOwl:hasDbXref MedDRA:10036832 Unspecified -Orphanet:2965 Prolactinoma oboInOwl:hasDbXref MESH:D015175 Unspecified -Orphanet:2965 Prolactinoma oboInOwl:hasDbXref ICD10:E22.1 Unspecified -Orphanet:2965 Prolactinoma oboInOwl:hasDbXref UMLS:C0033375 Unspecified -Orphanet:2965 Prolactinoma oboInOwl:hasDbXref ICD10:D35.2 Unspecified -Orphanet:2965 Prolactinoma skos:exactMatch UMLS:C0033375 Unspecified -Orphanet:2965 Prolactinoma skos:exactMatch MESH:D015175 Unspecified -Orphanet:2965 Prolactinoma skos:exactMatch MedDRA:10036832 Unspecified -Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref OMIM:312060 Unspecified -Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref UMLS:C1839454 Unspecified -Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref MESH:C537241 Unspecified -Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref UMLS:C0398762 Unspecified -Orphanet:2966 Properdin deficiency skos:exactMatch UMLS:C0398762 Unspecified -Orphanet:2966 Properdin deficiency skos:exactMatch UMLS:C1839454 Unspecified -Orphanet:2966 Properdin deficiency skos:exactMatch MESH:C537241 Unspecified -Orphanet:2966 Properdin deficiency skos:exactMatch OMIM:312060 Unspecified -Orphanet:2966 Properdin deficiency skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:2967 Transcobalamin I deficiency oboInOwl:hasDbXref UMLS:C0342700 Unspecified -Orphanet:2967 Transcobalamin I deficiency oboInOwl:hasDbXref ICD10:E53.8 Unspecified -Orphanet:2967 Transcobalamin I deficiency oboInOwl:hasDbXref OMIM:193090 Unspecified -Orphanet:2967 Transcobalamin I deficiency skos:exactMatch OMIM:193090 Unspecified -Orphanet:2967 Transcobalamin I deficiency skos:exactMatch UMLS:C0342700 Unspecified -Orphanet:2967 Transcobalamin I deficiency skos:broadMatch ICD10:E53.8 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref OMIM:116920 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref UMLS:C0242597 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref OMIM:266265 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref OMIM:612840 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref MESH:D018370 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref UMLS:C0398738 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency skos:exactMatch UMLS:C0398738 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency skos:exactMatch MESH:D018370 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency skos:narrowMatch OMIM:266265 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency skos:narrowMatch OMIM:612840 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency skos:exactMatch UMLS:C0242597 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency skos:narrowMatch OMIM:116920 Unspecified -Orphanet:2968 Leukocyte adhesion deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:213787 Carcinosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53 Unspecified -Orphanet:213787 Carcinosarcoma of the cervix uteri skos:broadMatch ICD10:C53 Unspecified -Orphanet:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref ICD10:D07.1 Unspecified -Orphanet:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref UMLS:C0346210 Unspecified -Orphanet:137583 Vulvar intraepithelial neoplasia skos:exactMatch UMLS:C0346210 Unspecified -Orphanet:137583 Vulvar intraepithelial neoplasia skos:broadMatch ICD10:D07.1 Unspecified -Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref OMIM:177170 Unspecified -Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref MESH:C535819 Unspecified -Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref UMLS:C0410538 Unspecified -Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:750 Pseudoachondroplasia skos:exactMatch UMLS:C0410538 Unspecified -Orphanet:750 Pseudoachondroplasia skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:750 Pseudoachondroplasia skos:exactMatch MESH:C535819 Unspecified -Orphanet:750 Pseudoachondroplasia skos:exactMatch OMIM:177170 Unspecified -Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref OMIM:264600 Unspecified -Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref ICD10:E29.1 Unspecified -Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref UMLS:C0268297 Unspecified -Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref MedDRA:10000029 Unspecified -Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref UMLS:C3669122 Unspecified -Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:broadMatch ICD10:E29.1 Unspecified -Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch MedDRA:10000029 Unspecified -Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch UMLS:C3669122 Unspecified -Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch OMIM:264600 Unspecified -Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch UMLS:C0268297 Unspecified -Orphanet:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref UMLS:C0268296 Unspecified -Orphanet:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref OMIM:264300 Unspecified -Orphanet:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref ICD10:E29.1 Unspecified -Orphanet:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch UMLS:C0268296 Unspecified -Orphanet:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:broadMatch ICD10:E29.1 Unspecified -Orphanet:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch OMIM:264300 Unspecified -Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref ICD10:Q56.1 Unspecified -Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref MedDRA:10024406 Unspecified -Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref OMIM:238320 Unspecified -Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref UMLS:C0860158 Unspecified -Orphanet:755 Leydig cell hypoplasia skos:exactMatch UMLS:C0860158 Unspecified -Orphanet:755 Leydig cell hypoplasia skos:exactMatch MedDRA:10024406 Unspecified -Orphanet:755 Leydig cell hypoplasia skos:narrowMatch OMIM:238320 Unspecified -Orphanet:755 Leydig cell hypoplasia skos:broadMatch ICD10:Q56.1 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614492 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614496 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref UMLS:C1449844 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:145260 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614491 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614495 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref ICD10:I15.1 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:145260 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614492 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614496 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 skos:exactMatch UMLS:C1449844 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 skos:broadMatch ICD10:I15.1 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614491 Unspecified -Orphanet:757 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614495 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C0268436 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C1449843 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref MESH:D011546 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:177735 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:264350 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 skos:narrowMatch OMIM:264350 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 skos:exactMatch MESH:D011546 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 skos:broadMatch ICD10:N25.8 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 skos:narrowMatch OMIM:177735 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 skos:exactMatch UMLS:C1449843 Unspecified -Orphanet:756 Pseudohypoaldosteronism type 1 skos:exactMatch UMLS:C0268436 Unspecified -Orphanet:352649 Brain dopamine-serotonin vesicular transport disease oboInOwl:hasDbXref OMIM:618049 Unspecified -Orphanet:352649 Brain dopamine-serotonin vesicular transport disease oboInOwl:hasDbXref ICD10:G25.8 Unspecified -Orphanet:352649 Brain dopamine-serotonin vesicular transport disease skos:exactMatch OMIM:618049 Unspecified -Orphanet:352649 Brain dopamine-serotonin vesicular transport disease skos:broadMatch ICD10:G25.8 Unspecified -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref MESH:C536662 Unspecified -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref UMLS:C0342871 Unspecified -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref UMLS:C1849678 Unspecified -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref OMIM:264470 Unspecified -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch OMIM:264470 Unspecified -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch UMLS:C0342871 Unspecified -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch UMLS:C1849678 Unspecified -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch MESH:C536662 Unspecified -Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum oboInOwl:hasDbXref ICD10:F84.8 Unspecified -Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum skos:broadMatch ICD10:F84.8 Unspecified -Orphanet:163898 Classic paraneoplastic limbic encephalitis oboInOwl:hasDbXref ICD10:G13.1 Unspecified -Orphanet:163898 Classic paraneoplastic limbic encephalitis skos:broadMatch ICD10:G13.1 Unspecified -Orphanet:137599 Herpes simplex virus stromal keratitis oboInOwl:hasDbXref UMLS:C1318020 Unspecified -Orphanet:137599 Herpes simplex virus stromal keratitis oboInOwl:hasDbXref ICD10:H16.3 Unspecified -Orphanet:137599 Herpes simplex virus stromal keratitis skos:exactMatch UMLS:C1318020 Unspecified -Orphanet:137599 Herpes simplex virus stromal keratitis skos:broadMatch ICD10:H16.3 Unspecified -Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:99429 Complete androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:300274 Unspecified -Orphanet:99429 Complete androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 Unspecified -Orphanet:99429 Complete androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:300068 Unspecified -Orphanet:99429 Complete androgen insensitivity syndrome skos:exactMatch OMIM:300068 Unspecified -Orphanet:99429 Complete androgen insensitivity syndrome skos:narrowMatch OMIM:300274 Unspecified -Orphanet:99429 Complete androgen insensitivity syndrome skos:broadMatch ICD10:E34.5 Unspecified -Orphanet:759 Central precocious puberty oboInOwl:hasDbXref OMIM:615346 Unspecified -Orphanet:759 Central precocious puberty oboInOwl:hasDbXref UMLS:C0342543 Unspecified -Orphanet:759 Central precocious puberty oboInOwl:hasDbXref ICD10:E22.8 Unspecified -Orphanet:759 Central precocious puberty oboInOwl:hasDbXref OMIM:176400 Unspecified -Orphanet:759 Central precocious puberty skos:narrowMatch OMIM:615346 Unspecified -Orphanet:759 Central precocious puberty skos:broadMatch ICD10:E22.8 Unspecified -Orphanet:759 Central precocious puberty skos:exactMatch UMLS:C0342543 Unspecified -Orphanet:759 Central precocious puberty skos:narrowMatch OMIM:176400 Unspecified -Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref MedDRA:10037150 Unspecified -Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:264800 Unspecified -Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:177850 Unspecified -Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref MESH:D011561 Unspecified -Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS:C0033847 Unspecified -Orphanet:758 Pseudoxanthoma elasticum skos:exactMatch MESH:D011561 Unspecified -Orphanet:758 Pseudoxanthoma elasticum skos:exactMatch UMLS:C0033847 Unspecified -Orphanet:758 Pseudoxanthoma elasticum skos:narrowMatch OMIM:177850 Unspecified -Orphanet:758 Pseudoxanthoma elasticum skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:758 Pseudoxanthoma elasticum skos:exactMatch MedDRA:10037150 Unspecified -Orphanet:758 Pseudoxanthoma elasticum skos:exactMatch OMIM:264800 Unspecified -Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C0279672 Unspecified -Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213772 Adenocarcinoma of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:213772 Adenocarcinoma of the cervix uteri skos:exactMatch UMLS:C0279672 Unspecified -Orphanet:213772 Adenocarcinoma of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:213772 Adenocarcinoma of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:391330 X-linked osteoporosis with fractures oboInOwl:hasDbXref OMIM:300910 Unspecified -Orphanet:391330 X-linked osteoporosis with fractures oboInOwl:hasDbXref ICD10:M80.5 Unspecified -Orphanet:391330 X-linked osteoporosis with fractures skos:broadMatch ICD10:M80.5 Unspecified -Orphanet:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref ICD10:K10.2 Unspecified -Orphanet:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref UMLS:C2711248 Unspecified -Orphanet:399293 Osteonecrosis of the jaw skos:broadMatch ICD10:K10.2 Unspecified -Orphanet:399293 Osteonecrosis of the jaw skos:exactMatch UMLS:C2711248 Unspecified -Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:306741 Hemidystonia-hemiatrophy syndrome oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:306741 Hemidystonia-hemiatrophy syndrome skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref ICD10:H16.2 Unspecified -Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref UMLS:C0339296 Unspecified -Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref MedDRA:10069732 Unspecified -Orphanet:137596 Neurotrophic keratopathy skos:exactMatch MedDRA:10069732 Unspecified -Orphanet:137596 Neurotrophic keratopathy skos:broadMatch ICD10:H16.2 Unspecified -Orphanet:137596 Neurotrophic keratopathy skos:exactMatch UMLS:C0339296 Unspecified -Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref OMIM:615578 Unspecified -Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:exactMatch OMIM:615578 Unspecified -Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref UMLS:C1841972 Unspecified -Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref ICD10:E25.8 Unspecified -Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref OMIM:615962 Unspecified -Orphanet:786 Generalized glucocorticoid resistance syndrome skos:exactMatch OMIM:615962 Unspecified -Orphanet:786 Generalized glucocorticoid resistance syndrome skos:exactMatch UMLS:C1841972 Unspecified -Orphanet:786 Generalized glucocorticoid resistance syndrome skos:broadMatch ICD10:E25.8 Unspecified -Orphanet:442582 AH amyloidosis oboInOwl:hasDbXref ICD10:E85.9 Unspecified -Orphanet:442582 AH amyloidosis skos:broadMatch ICD10:E85.9 Unspecified -Orphanet:785 Estrogen resistance syndrome oboInOwl:hasDbXref ICD10:E30 Unspecified -Orphanet:785 Estrogen resistance syndrome oboInOwl:hasDbXref OMIM:615363 Unspecified -Orphanet:785 Estrogen resistance syndrome skos:exactMatch OMIM:615363 Unspecified -Orphanet:785 Estrogen resistance syndrome skos:broadMatch ICD10:E30 Unspecified -Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 oboInOwl:hasDbXref OMIM:614653 Unspecified -Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 skos:exactMatch OMIM:614653 Unspecified -Orphanet:391343 Fatal post-viral neurodegenerative disorder oboInOwl:hasDbXref ICD10:G04.8 Unspecified -Orphanet:391343 Fatal post-viral neurodegenerative disorder skos:broadMatch ICD10:G04.8 Unspecified -Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref UMLS:C1739395 Unspecified -Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 Unspecified -Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref UMLS:C1168291 Unspecified -Orphanet:66529 Tako-Tsubo cardiomyopathy skos:exactMatch UMLS:C1168291 Unspecified -Orphanet:66529 Tako-Tsubo cardiomyopathy skos:broadMatch ICD10:I42.8 Unspecified -Orphanet:66529 Tako-Tsubo cardiomyopathy skos:exactMatch UMLS:C1739395 Unspecified -Orphanet:2983 Disorder of sex development-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931233 Unspecified -Orphanet:2983 Disorder of sex development-intellectual disability syndrome oboInOwl:hasDbXref OMIM:600122 Unspecified -Orphanet:2983 Disorder of sex development-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q56.3 Unspecified -Orphanet:2983 Disorder of sex development-intellectual disability syndrome skos:broadMatch ICD10:Q56.3 Unspecified -Orphanet:2983 Disorder of sex development-intellectual disability syndrome skos:exactMatch OMIM:600122 Unspecified -Orphanet:2983 Disorder of sex development-intellectual disability syndrome skos:exactMatch UMLS:C2931233 Unspecified -Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268210 Unspecified -Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0035412 Unspecified -Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref MedDRA:10039022 Unspecified -Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268220 Unspecified -Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref MESH:D012208 Unspecified -Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:780 Rhabdomyosarcoma skos:narrowMatch OMIM:268210 Unspecified -Orphanet:780 Rhabdomyosarcoma skos:exactMatch MESH:D012208 Unspecified -Orphanet:780 Rhabdomyosarcoma skos:exactMatch MedDRA:10039022 Unspecified -Orphanet:780 Rhabdomyosarcoma skos:narrowMatch OMIM:268220 Unspecified -Orphanet:780 Rhabdomyosarcoma skos:exactMatch UMLS:C0035412 Unspecified -Orphanet:780 Rhabdomyosarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis oboInOwl:hasDbXref OMIM:616937 Unspecified -Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis skos:exactMatch OMIM:616937 Unspecified -Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref OMIM:125400 Unspecified -Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref OMIM:125420 Unspecified -Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref MESH:D003805 Unspecified -Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref ICD10:K00.5 Unspecified -Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref UMLS:C0011430 Unspecified -Orphanet:1653 Dentin dysplasia skos:exactMatch UMLS:C0011430 Unspecified -Orphanet:1653 Dentin dysplasia skos:broadMatch ICD10:K00.5 Unspecified -Orphanet:1653 Dentin dysplasia skos:exactMatch MESH:D003805 Unspecified -Orphanet:1653 Dentin dysplasia skos:narrowMatch OMIM:125400 Unspecified -Orphanet:1653 Dentin dysplasia skos:narrowMatch OMIM:125420 Unspecified -Orphanet:781 Q fever oboInOwl:hasDbXref MESH:D011778 Unspecified -Orphanet:781 Q fever oboInOwl:hasDbXref UMLS:C2973787 Unspecified -Orphanet:781 Q fever oboInOwl:hasDbXref ICD10:A78 Unspecified -Orphanet:781 Q fever oboInOwl:hasDbXref MedDRA:10037731 Unspecified -Orphanet:781 Q fever oboInOwl:hasDbXref UMLS:C0034362 Unspecified -Orphanet:781 Q fever oboInOwl:hasDbXref MedDRA:10037688 Unspecified -Orphanet:781 Q fever skos:exactMatch MedDRA:10037688 Unspecified -Orphanet:781 Q fever skos:exactMatch UMLS:C0034362 Unspecified -Orphanet:781 Q fever skos:exactMatch UMLS:C2973787 Unspecified -Orphanet:781 Q fever skos:exactMatch MESH:D011778 Unspecified -Orphanet:781 Q fever skos:exactMatch MedDRA:10037731 Unspecified -Orphanet:781 Q fever skos:exactMatch ICD10:A78 Unspecified -Orphanet:1652 Dent disease oboInOwl:hasDbXref ICD10:N25.8 Unspecified -Orphanet:1652 Dent disease oboInOwl:hasDbXref OMIM:310468 Unspecified -Orphanet:1652 Dent disease oboInOwl:hasDbXref UMLS:C1839874 Unspecified -Orphanet:1652 Dent disease oboInOwl:hasDbXref MedDRA:10069199 Unspecified -Orphanet:1652 Dent disease oboInOwl:hasDbXref OMIM:300009 Unspecified -Orphanet:1652 Dent disease oboInOwl:hasDbXref UMLS:C0878681 Unspecified -Orphanet:1652 Dent disease oboInOwl:hasDbXref MESH:D057973 Unspecified -Orphanet:1652 Dent disease oboInOwl:hasDbXref OMIM:300555 Unspecified -Orphanet:1652 Dent disease oboInOwl:hasDbXref OMIM:308990 Unspecified -Orphanet:1652 Dent disease oboInOwl:hasDbXref MESH:C545036 Unspecified -Orphanet:1652 Dent disease oboInOwl:hasDbXref OMIM:300554 Unspecified -Orphanet:1652 Dent disease skos:exactMatch MESH:C545036 Unspecified -Orphanet:1652 Dent disease skos:narrowMatch OMIM:310468 Unspecified -Orphanet:1652 Dent disease skos:broadMatch ICD10:N25.8 Unspecified -Orphanet:1652 Dent disease skos:narrowMatch OMIM:300555 Unspecified -Orphanet:1652 Dent disease skos:narrowMatch OMIM:300009 Unspecified -Orphanet:1652 Dent disease skos:exactMatch UMLS:C1839874 Unspecified -Orphanet:1652 Dent disease skos:exactMatch MESH:D057973 Unspecified -Orphanet:1652 Dent disease skos:exactMatch UMLS:C0878681 Unspecified -Orphanet:1652 Dent disease skos:exactMatch MedDRA:10069199 Unspecified -Orphanet:1652 Dent disease skos:narrowMatch OMIM:300554 Unspecified -Orphanet:1652 Dent disease skos:narrowMatch OMIM:308990 Unspecified -Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref OMIM:221790 Unspecified -Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref UMLS:C1857314 Unspecified -Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref MESH:C538220 Unspecified -Orphanet:1659 Dermatoleukodystrophy skos:exactMatch MESH:C538220 Unspecified -Orphanet:1659 Dermatoleukodystrophy skos:exactMatch UMLS:C1857314 Unspecified -Orphanet:1659 Dermatoleukodystrophy skos:exactMatch OMIM:221790 Unspecified -Orphanet:1659 Dermatoleukodystrophy skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref OMIM:129200 Unspecified -Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref UMLS:C0406707 Unspecified -Orphanet:1658 Absence of fingerprints-congenital milia syndrome skos:exactMatch UMLS:C0406707 Unspecified -Orphanet:1658 Absence of fingerprints-congenital milia syndrome skos:exactMatch OMIM:129200 Unspecified -Orphanet:1658 Absence of fingerprints-congenital milia syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha oboInOwl:hasDbXref ICD10:E07.8 Unspecified -Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:broadMatch ICD10:E07.8 Unspecified -Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref MESH:D003874 Unspecified -Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref ICD10:L13.0 Unspecified -Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref MedDRA:10012468 Unspecified -Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref OMIM:601230 Unspecified -Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref UMLS:C0011608 Unspecified -Orphanet:1656 Dermatitis herpetiformis skos:narrowMatch OMIM:601230 Unspecified -Orphanet:1656 Dermatitis herpetiformis skos:exactMatch ICD10:L13.0 Unspecified -Orphanet:1656 Dermatitis herpetiformis skos:exactMatch MESH:D003874 Unspecified -Orphanet:1656 Dermatitis herpetiformis skos:exactMatch MedDRA:10012468 Unspecified -Orphanet:1656 Dermatitis herpetiformis skos:exactMatch UMLS:C0011608 Unspecified -Orphanet:276429 Hypnic headache oboInOwl:hasDbXref ICD10:G44.8 Unspecified -Orphanet:276429 Hypnic headache oboInOwl:hasDbXref UMLS:C0752150 Unspecified -Orphanet:276429 Hypnic headache skos:exactMatch UMLS:C0752150 Unspecified -Orphanet:276429 Hypnic headache skos:broadMatch ICD10:G44.8 Unspecified -Orphanet:596937 Portosinusoidal vascular disease oboInOwl:hasDbXref ICD10:K76.8 Unspecified -Orphanet:596937 Portosinusoidal vascular disease skos:broadMatch ICD10:K76.8 Unspecified -Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q81.8 Unspecified -Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1856969 Unspecified -Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref OMIM:226440 Unspecified -Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch OMIM:226440 Unspecified -Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch UMLS:C1856969 Unspecified -Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:broadMatch ICD10:Q81.8 Unspecified -Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 Unspecified -Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 Unspecified -Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 Unspecified -Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C0279671 Unspecified -Orphanet:213767 Squamous cell carcinoma of the cervix uteri skos:exactMatch UMLS:C0279671 Unspecified -Orphanet:213767 Squamous cell carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.1 Unspecified -Orphanet:213767 Squamous cell carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.8 Unspecified -Orphanet:213767 Squamous cell carcinoma of the cervix uteri skos:narrowMatch ICD10:C53.0 Unspecified -Orphanet:773 Refsum disease oboInOwl:hasDbXref MESH:D012035 Unspecified -Orphanet:773 Refsum disease oboInOwl:hasDbXref UMLS:C0034960 Unspecified -Orphanet:773 Refsum disease oboInOwl:hasDbXref ICD10:G60.1 Unspecified -Orphanet:773 Refsum disease oboInOwl:hasDbXref OMIM:266500 Unspecified -Orphanet:773 Refsum disease oboInOwl:hasDbXref OMIM:614879 Unspecified -Orphanet:773 Refsum disease oboInOwl:hasDbXref MedDRA:10038275 Unspecified -Orphanet:773 Refsum disease skos:exactMatch MedDRA:10038275 Unspecified -Orphanet:773 Refsum disease skos:exactMatch ICD10:G60.1 Unspecified -Orphanet:773 Refsum disease skos:exactMatch OMIM:266500 Unspecified -Orphanet:773 Refsum disease skos:exactMatch UMLS:C0034960 Unspecified -Orphanet:773 Refsum disease skos:exactMatch MESH:D012035 Unspecified -Orphanet:773 Refsum disease skos:narrowMatch OMIM:614879 Unspecified -Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oboInOwl:hasDbXref OMIM:614665 Unspecified -Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oboInOwl:hasDbXref ICD10:P76.0 Unspecified -Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:exactMatch OMIM:614665 Unspecified -Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:broadMatch ICD10:P76.0 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref UMLS:C0282527 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:266510 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:617370 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614885 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614867 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614863 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614920 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:601539 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:202370 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614873 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614871 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614877 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref ICD10:G60.1 Unspecified -Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref MESH:D052919 Unspecified -Orphanet:772 Infantile Refsum disease skos:broadMatch OMIM:617370 Unspecified -Orphanet:772 Infantile Refsum disease skos:narrowMatch OMIM:202370 Unspecified -Orphanet:772 Infantile Refsum disease skos:narrowMatch OMIM:614867 Unspecified -Orphanet:772 Infantile Refsum disease skos:narrowMatch OMIM:614863 Unspecified -Orphanet:772 Infantile Refsum disease skos:narrowMatch OMIM:614885 Unspecified -Orphanet:772 Infantile Refsum disease skos:narrowMatch OMIM:266510 Unspecified -Orphanet:772 Infantile Refsum disease skos:broadMatch OMIM:601539 Unspecified -Orphanet:772 Infantile Refsum disease skos:exactMatch MESH:D052919 Unspecified -Orphanet:772 Infantile Refsum disease skos:narrowMatch OMIM:614920 Unspecified -Orphanet:772 Infantile Refsum disease skos:broadMatch ICD10:G60.1 Unspecified -Orphanet:772 Infantile Refsum disease skos:exactMatch UMLS:C0282527 Unspecified -Orphanet:772 Infantile Refsum disease skos:narrowMatch OMIM:614871 Unspecified -Orphanet:772 Infantile Refsum disease skos:narrowMatch OMIM:614877 Unspecified -Orphanet:772 Infantile Refsum disease skos:narrowMatch OMIM:614873 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref MedDRA:10019883 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref UMLS:C0039445 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ICD10:I78.0 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:601101 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:615506 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:187300 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:610655 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:600376 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:610655 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:615506 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:601101 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia skos:exactMatch UMLS:C0039445 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia skos:exactMatch MedDRA:10019883 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia skos:exactMatch ICD10:I78.0 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia skos:exactMatch OMIM:187300 Unspecified -Orphanet:774 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:600376 Unspecified -Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity oboInOwl:hasDbXref ICD10:P78.3 Unspecified -Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity oboInOwl:hasDbXref OMIM:614616 Unspecified -Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity skos:broadMatch ICD10:P78.3 Unspecified -Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity skos:exactMatch OMIM:614616 Unspecified -Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref OMIM:613471 Unspecified -Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref ICD10:K74.3 Unspecified -Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref ICD10:L94.0 Unspecified -Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref UMLS:C0748397 Unspecified -Orphanet:779 Reynolds syndrome skos:exactMatch UMLS:C0748397 Unspecified -Orphanet:779 Reynolds syndrome skos:exactMatch OMIM:613471 Unspecified -Orphanet:778 Rett syndrome oboInOwl:hasDbXref OMIM:312750 Unspecified -Orphanet:778 Rett syndrome oboInOwl:hasDbXref UMLS:C0035372 Unspecified -Orphanet:778 Rett syndrome oboInOwl:hasDbXref MedDRA:10039000 Unspecified -Orphanet:778 Rett syndrome oboInOwl:hasDbXref ICD10:F84.2 Unspecified -Orphanet:778 Rett syndrome oboInOwl:hasDbXref MESH:D015518 Unspecified -Orphanet:778 Rett syndrome skos:exactMatch ICD10:F84.2 Unspecified -Orphanet:778 Rett syndrome skos:exactMatch MESH:D015518 Unspecified -Orphanet:778 Rett syndrome skos:exactMatch OMIM:312750 Unspecified -Orphanet:778 Rett syndrome skos:exactMatch UMLS:C0035372 Unspecified -Orphanet:778 Rett syndrome skos:exactMatch MedDRA:10039000 Unspecified -Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref UMLS:C0406585 Unspecified -Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref OMIM:275210 Unspecified -Orphanet:1662 Restrictive dermopathy skos:exactMatch OMIM:275210 Unspecified -Orphanet:1662 Restrictive dermopathy skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:1662 Restrictive dermopathy skos:exactMatch UMLS:C0406585 Unspecified -Orphanet:276435 Lower motor neuron syndrome with late-adult onset oboInOwl:hasDbXref ICD10:G12.1 Unspecified -Orphanet:276435 Lower motor neuron syndrome with late-adult onset oboInOwl:hasDbXref OMIM:615048 Unspecified -Orphanet:276435 Lower motor neuron syndrome with late-adult onset skos:broadMatch ICD10:G12.1 Unspecified -Orphanet:276435 Lower motor neuron syndrome with late-adult onset skos:exactMatch OMIM:615048 Unspecified -Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome oboInOwl:hasDbXref ICD10:E13 Unspecified -Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome skos:broadMatch ICD10:E13 Unspecified -Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref UMLS:C1844671 Unspecified -Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref OMIM:304730 Unspecified -Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref ICD10:Q13.4 Unspecified -Orphanet:1661 X-linked corneal dermoid skos:broadMatch ICD10:Q13.4 Unspecified -Orphanet:1661 X-linked corneal dermoid skos:exactMatch OMIM:304730 Unspecified -Orphanet:1661 X-linked corneal dermoid skos:exactMatch UMLS:C1844671 Unspecified -Orphanet:352629 16q24.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 Unspecified -Orphanet:352629 16q24.1 microdeletion syndrome skos:broadMatch ICD10:Q93.5 Unspecified -Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.1 Unspecified -Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.9 Unspecified -Orphanet:770 Rabies oboInOwl:hasDbXref MedDRA:10037742 Unspecified -Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.0 Unspecified -Orphanet:770 Rabies oboInOwl:hasDbXref MESH:D011818 Unspecified -Orphanet:770 Rabies oboInOwl:hasDbXref UMLS:C0034494 Unspecified -Orphanet:770 Rabies skos:narrowMatch ICD10:A82.1 Unspecified -Orphanet:770 Rabies skos:narrowMatch ICD10:A82.9 Unspecified -Orphanet:770 Rabies skos:exactMatch MESH:D011818 Unspecified -Orphanet:770 Rabies skos:exactMatch UMLS:C0034494 Unspecified -Orphanet:770 Rabies skos:exactMatch MedDRA:10037742 Unspecified -Orphanet:770 Rabies skos:narrowMatch ICD10:A82.0 Unspecified -Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:145650 Unspecified -Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref ICD10:E07.8 Unspecified -Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:188570 Unspecified -Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:274300 Unspecified -Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:broadMatch ICD10:E07.8 Unspecified -Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:broadMatch OMIM:188570 Unspecified -Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:broadMatch OMIM:274300 Unspecified -Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:exactMatch OMIM:145650 Unspecified -Orphanet:525738 Prepubertal anorexia nervosa oboInOwl:hasDbXref ICD10:F50.0 Unspecified -Orphanet:525738 Prepubertal anorexia nervosa skos:broadMatch ICD10:F50.0 Unspecified -Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref ICD10:E13 Unspecified -Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref MESH:C536739 Unspecified -Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref UMLS:C0432217 Unspecified -Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref OMIM:226980 Unspecified -Orphanet:1667 Wolcott-Rallison syndrome skos:exactMatch OMIM:226980 Unspecified -Orphanet:1667 Wolcott-Rallison syndrome skos:exactMatch UMLS:C0432217 Unspecified -Orphanet:1667 Wolcott-Rallison syndrome skos:exactMatch MESH:C536739 Unspecified -Orphanet:1667 Wolcott-Rallison syndrome skos:broadMatch ICD10:E13 Unspecified -Orphanet:525731 Pediatric-onset Graves disease oboInOwl:hasDbXref ICD10:E05.0 Unspecified -Orphanet:525731 Pediatric-onset Graves disease skos:broadMatch ICD10:E05.0 Unspecified -Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref OMIM:616684 Unspecified -Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 skos:exactMatch OMIM:616684 Unspecified -Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 Unspecified -Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 Unspecified -Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 Unspecified -Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 Unspecified -Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 Unspecified -Orphanet:213751 Malignant germ cell tumor of the corpus uteri skos:narrowMatch ICD10:C54.0 Unspecified -Orphanet:213751 Malignant germ cell tumor of the corpus uteri skos:narrowMatch ICD10:C54.2 Unspecified -Orphanet:213751 Malignant germ cell tumor of the corpus uteri skos:narrowMatch ICD10:C54.8 Unspecified -Orphanet:213751 Malignant germ cell tumor of the corpus uteri skos:narrowMatch ICD10:C54.1 Unspecified -Orphanet:213751 Malignant germ cell tumor of the corpus uteri skos:narrowMatch ICD10:C54.3 Unspecified -Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0432322 Unspecified -Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131750 Unspecified -Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 Unspecified -Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa skos:exactMatch OMIM:131750 Unspecified -Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa skos:exactMatch UMLS:C0432322 Unspecified -Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa skos:broadMatch ICD10:Q81.2 Unspecified -Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref OMIM:617475 Unspecified -Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref OMIM:245480 Unspecified -Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref ICD10:D71 Unspecified -Orphanet:169142 Recurrent infection due to specific granule deficiency skos:broadMatch ICD10:D71 Unspecified -Orphanet:169142 Recurrent infection due to specific granule deficiency skos:exactMatch OMIM:617475 Unspecified -Orphanet:169142 Recurrent infection due to specific granule deficiency skos:exactMatch OMIM:245480 Unspecified -Orphanet:720 Pili bifurcati oboInOwl:hasDbXref ICD10:L67.8 Unspecified -Orphanet:720 Pili bifurcati skos:broadMatch ICD10:L67.8 Unspecified -Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref ICD10:L90.5 Unspecified -Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref OMIM:217090 Unspecified -Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref UMLS:C0398621 Unspecified -Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref UMLS:C1968804 Unspecified -Orphanet:722 Hypoplasminogenemia skos:exactMatch UMLS:C1968804 Unspecified -Orphanet:722 Hypoplasminogenemia skos:broadMatch ICD10:L90.5 Unspecified -Orphanet:722 Hypoplasminogenemia skos:exactMatch OMIM:217090 Unspecified -Orphanet:722 Hypoplasminogenemia skos:exactMatch UMLS:C0398621 Unspecified -Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 Unspecified -Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref OMIM:187900 Unspecified -Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref UMLS:C2717750 Unspecified -Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref UMLS:C0272302 Unspecified -Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref MESH:D055652 Unspecified -Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref OMIM:139090 Unspecified -Orphanet:721 Gray platelet syndrome skos:narrowMatch OMIM:187900 Unspecified -Orphanet:721 Gray platelet syndrome skos:broadMatch ICD10:D69.1 Unspecified -Orphanet:721 Gray platelet syndrome skos:exactMatch OMIM:139090 Unspecified -Orphanet:721 Gray platelet syndrome skos:exactMatch UMLS:C0272302 Unspecified -Orphanet:721 Gray platelet syndrome skos:exactMatch MESH:D055652 Unspecified -Orphanet:721 Gray platelet syndrome skos:exactMatch UMLS:C2717750 Unspecified -Orphanet:724 Idiopathic acute eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 Unspecified -Orphanet:724 Idiopathic acute eosinophilic pneumonia skos:broadMatch ICD10:J82 Unspecified -Orphanet:723 Pneumocystosis oboInOwl:hasDbXref ICD10:J17.3* Unspecified -Orphanet:723 Pneumocystosis oboInOwl:hasDbXref ICD10:B59+ Unspecified -Orphanet:723 Pneumocystosis oboInOwl:hasDbXref UMLS:C1535939 Unspecified -Orphanet:723 Pneumocystosis skos:broadMatch ICD10:J17.3* Unspecified -Orphanet:723 Pneumocystosis skos:exactMatch UMLS:C1535939 Unspecified -Orphanet:723 Pneumocystosis skos:exactMatch ICD10:B59+ Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:216950 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:613652 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:217000 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:613783 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:614379 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:614380 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:613652 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:216950 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:614380 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:613783 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:614379 Unspecified -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:217000 Unspecified -Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref ICD10:C43.9 Unspecified -Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref OMIM:614456 Unspecified -Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome skos:exactMatch OMIM:614456 Unspecified -Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome skos:broadMatch ICD10:C43.9 Unspecified -Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref UMLS:C0205710 Unspecified -Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref MESH:D002549 Unspecified -Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref MedDRA:10062943 Unspecified -Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref OMIM:203700 Unspecified -Orphanet:726 Alpers-Huttenlocher syndrome skos:exactMatch MedDRA:10062943 Unspecified -Orphanet:726 Alpers-Huttenlocher syndrome skos:exactMatch OMIM:203700 Unspecified -Orphanet:726 Alpers-Huttenlocher syndrome skos:exactMatch MESH:D002549 Unspecified -Orphanet:726 Alpers-Huttenlocher syndrome skos:exactMatch UMLS:C0205710 Unspecified -Orphanet:726 Alpers-Huttenlocher syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref OMIM:245570 Unspecified -Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:725 Continuous spikes and waves during sleep skos:broadMatch OMIM:245570 Unspecified -Orphanet:725 Continuous spikes and waves during sleep skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref ICD10:M94.1 Unspecified -Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref MESH:D011081 Unspecified -Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref MedDRA:10038304 Unspecified -Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref UMLS:C0032453 Unspecified -Orphanet:728 Relapsing polychondritis skos:exactMatch UMLS:C0032453 Unspecified -Orphanet:728 Relapsing polychondritis skos:exactMatch ICD10:M94.1 Unspecified -Orphanet:728 Relapsing polychondritis skos:exactMatch MedDRA:10038304 Unspecified -Orphanet:728 Relapsing polychondritis skos:exactMatch MESH:D011081 Unspecified -Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref ICD10:M31.7 Unspecified -Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref MedDRA:10063344 Unspecified -Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref MESH:D055953 Unspecified -Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref UMLS:C0343192 Unspecified -Orphanet:727 Microscopic polyangiitis skos:exactMatch ICD10:M31.7 Unspecified -Orphanet:727 Microscopic polyangiitis skos:exactMatch MESH:D055953 Unspecified -Orphanet:727 Microscopic polyangiitis skos:exactMatch MedDRA:10063344 Unspecified -Orphanet:727 Microscopic polyangiitis skos:exactMatch UMLS:C0343192 Unspecified -Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref OMIM:613673 Unspecified -Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref ICD10:D64.4 Unspecified -Orphanet:293825 Congenital dyserythropoietic anemia type IV skos:broadMatch ICD10:D64.4 Unspecified -Orphanet:293825 Congenital dyserythropoietic anemia type IV skos:exactMatch OMIM:613673 Unspecified -Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:612242 Unspecified -Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:174900 Unspecified -Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref UMLS:C0345893 Unspecified -Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:175050 Unspecified -Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 Unspecified -Orphanet:2929 Juvenile polyposis syndrome skos:broadMatch ICD10:D12.6 Unspecified -Orphanet:2929 Juvenile polyposis syndrome skos:exactMatch UMLS:C0345893 Unspecified -Orphanet:2929 Juvenile polyposis syndrome skos:exactMatch OMIM:175050 Unspecified -Orphanet:2929 Juvenile polyposis syndrome skos:broadMatch OMIM:612242 Unspecified -Orphanet:2929 Juvenile polyposis syndrome skos:narrowMatch OMIM:174900 Unspecified -Orphanet:729 Polycythemia vera oboInOwl:hasDbXref ICD10:D45 Unspecified -Orphanet:729 Polycythemia vera oboInOwl:hasDbXref UMLS:C0032463 Unspecified -Orphanet:729 Polycythemia vera oboInOwl:hasDbXref MESH:D011087 Unspecified -Orphanet:729 Polycythemia vera oboInOwl:hasDbXref OMIM:263300 Unspecified -Orphanet:729 Polycythemia vera oboInOwl:hasDbXref MedDRA:10036057 Unspecified -Orphanet:729 Polycythemia vera skos:exactMatch MedDRA:10036057 Unspecified -Orphanet:729 Polycythemia vera skos:exactMatch OMIM:263300 Unspecified -Orphanet:729 Polycythemia vera skos:exactMatch UMLS:C0032463 Unspecified -Orphanet:729 Polycythemia vera skos:exactMatch ICD10:D45 Unspecified -Orphanet:729 Polycythemia vera skos:exactMatch MESH:D011087 Unspecified -Orphanet:213746 Transitional cell carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.9 Unspecified -Orphanet:213746 Transitional cell carcinoma of the corpus uteri skos:broadMatch ICD10:C54.9 Unspecified -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 Unspecified -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 Unspecified -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 Unspecified -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 Unspecified -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 Unspecified -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri skos:narrowMatch ICD10:C54.8 Unspecified -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri skos:narrowMatch ICD10:C54.0 Unspecified -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri skos:narrowMatch ICD10:C54.2 Unspecified -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri skos:narrowMatch ICD10:C54.1 Unspecified -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri skos:narrowMatch ICD10:C54.3 Unspecified -Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency oboInOwl:hasDbXref OMIM:608971 Unspecified -Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency oboInOwl:hasDbXref UMLS:C1837028 Unspecified -Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency oboInOwl:hasDbXref ICD10:D81.2 Unspecified -Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:broadMatch ICD10:D81.2 Unspecified -Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:exactMatch UMLS:C1837028 Unspecified -Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:broadMatch OMIM:608971 Unspecified -Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref UMLS:C1970848 Unspecified -Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref UMLS:C0684324 Unspecified -Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref OMIM:300653 Unspecified -Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch OMIM:300653 Unspecified -Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch UMLS:C1970848 Unspecified -Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch UMLS:C0684324 Unspecified -Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome oboInOwl:hasDbXref OMIM:615574 Unspecified -Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome skos:exactMatch OMIM:615574 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:610102 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:613789 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:613790 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:609536 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:613825 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:612446 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:613790 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:613789 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:610102 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:609536 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:612446 Unspecified -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:613825 Unspecified -Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses oboInOwl:hasDbXref OMIM:275355 Unspecified -Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses oboInOwl:hasDbXref ICD10:D02.3 Unspecified -Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses skos:broadMatch OMIM:275355 Unspecified -Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses skos:broadMatch ICD10:D02.3 Unspecified -Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 Unspecified -Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref OMIM:613470 Unspecified -Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch OMIM:613470 Unspecified -Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency skos:broadMatch ICD10:D55.2 Unspecified -Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref OMIM:609814 Unspecified -Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref UMLS:C0398777 Unspecified -Orphanet:200421 Immunodeficiency with factor H anomaly skos:exactMatch UMLS:C0398777 Unspecified -Orphanet:200421 Immunodeficiency with factor H anomaly skos:broadMatch OMIM:609814 Unspecified -Orphanet:200421 Immunodeficiency with factor H anomaly skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref UMLS:C0282207 Unspecified -Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref MedDRA:10062907 Unspecified -Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref OMIM:175500 Unspecified -Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref ICD10:D12.6 Unspecified -Orphanet:2930 Cronkhite-Canada syndrome skos:broadMatch ICD10:D12.6 Unspecified -Orphanet:2930 Cronkhite-Canada syndrome skos:exactMatch OMIM:175500 Unspecified -Orphanet:2930 Cronkhite-Canada syndrome skos:exactMatch MedDRA:10062907 Unspecified -Orphanet:2930 Cronkhite-Canada syndrome skos:exactMatch UMLS:C0282207 Unspecified -Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref MedDRA:10018207 Unspecified -Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C72.9 Unspecified -Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref UMLS:C0206660 Unspecified -Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C38.3 Unspecified -Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref MESH:D018237 Unspecified -Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C48.8 Unspecified -Orphanet:182127 Extragonadal germinoma skos:exactMatch MESH:D018237 Unspecified -Orphanet:182127 Extragonadal germinoma skos:exactMatch UMLS:C0206660 Unspecified -Orphanet:182127 Extragonadal germinoma skos:broadMatch ICD10:C48.8 Unspecified -Orphanet:182127 Extragonadal germinoma skos:broadMatch ICD10:C72.9 Unspecified -Orphanet:182127 Extragonadal germinoma skos:broadMatch ICD10:C38.3 Unspecified -Orphanet:182127 Extragonadal germinoma skos:exactMatch MedDRA:10018207 Unspecified -Orphanet:231580 Primary unilateral adrenal hyperplasia oboInOwl:hasDbXref ICD10:E26.0 Unspecified -Orphanet:231580 Primary unilateral adrenal hyperplasia skos:broadMatch ICD10:E26.0 Unspecified -Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency oboInOwl:hasDbXref UMLS:C1837028 Unspecified -Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency oboInOwl:hasDbXref OMIM:608971 Unspecified -Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency oboInOwl:hasDbXref ICD10:D81.2 Unspecified -Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:broadMatch OMIM:608971 Unspecified -Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:broadMatch ICD10:D81.2 Unspecified -Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:exactMatch UMLS:C1837028 Unspecified -Orphanet:55881 Adamantinoma oboInOwl:hasDbXref UMLS:C1367554 Unspecified -Orphanet:55881 Adamantinoma oboInOwl:hasDbXref OMIM:102660 Unspecified -Orphanet:55881 Adamantinoma oboInOwl:hasDbXref ICD10:C40.2 Unspecified -Orphanet:55881 Adamantinoma oboInOwl:hasDbXref MESH:D050398 Unspecified -Orphanet:55881 Adamantinoma skos:exactMatch MESH:D050398 Unspecified -Orphanet:55881 Adamantinoma skos:exactMatch OMIM:102660 Unspecified -Orphanet:55881 Adamantinoma skos:broadMatch ICD10:C40.2 Unspecified -Orphanet:55881 Adamantinoma skos:exactMatch UMLS:C1367554 Unspecified -Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref UMLS:C0008479 Unspecified -Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref MedDRA:10008734 Unspecified -Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref OMIM:215300 Unspecified -Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref MESH:D002813 Unspecified -Orphanet:55880 Chondrosarcoma skos:exactMatch MESH:D002813 Unspecified -Orphanet:55880 Chondrosarcoma skos:exactMatch OMIM:215300 Unspecified -Orphanet:55880 Chondrosarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:55880 Chondrosarcoma skos:exactMatch MedDRA:10008734 Unspecified -Orphanet:55880 Chondrosarcoma skos:exactMatch UMLS:C0008479 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref MedDRA:10069039 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref MESH:C536922 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref UMLS:C2609298 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref UMLS:C1843273 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref MedDRA:10069034 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref OMIM:607665 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref UMLS:C1639520 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref ICD10:N10 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome skos:exactMatch UMLS:C1843273 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome skos:exactMatch MedDRA:10069034 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome skos:exactMatch UMLS:C2609298 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome skos:exactMatch OMIM:607665 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome skos:exactMatch UMLS:C1639520 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome skos:exactMatch MedDRA:10069039 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome skos:exactMatch MESH:C536922 Unspecified -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome skos:broadMatch ICD10:N10 Unspecified -Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 Unspecified -Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref UMLS:C0393819 Unspecified -Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref MedDRA:10057645 Unspecified -Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MedDRA:10057645 Unspecified -Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy skos:broadMatch ICD10:G61.8 Unspecified -Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch UMLS:C0393819 Unspecified -Orphanet:293812 Fixed drug eruption oboInOwl:hasDbXref UMLS:C0877391 Unspecified -Orphanet:293812 Fixed drug eruption oboInOwl:hasDbXref MedDRA:10048796 Unspecified -Orphanet:293812 Fixed drug eruption skos:exactMatch MedDRA:10048796 Unspecified -Orphanet:293812 Fixed drug eruption skos:exactMatch UMLS:C0877391 Unspecified -Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:300559 Unspecified -Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C1845151 Unspecified -Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency skos:exactMatch OMIM:300559 Unspecified -Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency skos:exactMatch UMLS:C1845151 Unspecified -Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref OMIM:222800 Unspecified -Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:D55.2 Unspecified -Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency skos:broadMatch ICD10:D55.2 Unspecified -Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch OMIM:222800 Unspecified -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 Unspecified -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 Unspecified -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 Unspecified -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 Unspecified -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 Unspecified -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri skos:narrowMatch ICD10:C54.1 Unspecified -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri skos:narrowMatch ICD10:C54.3 Unspecified -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri skos:narrowMatch ICD10:C54.8 Unspecified -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri skos:narrowMatch ICD10:C54.0 Unspecified -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri skos:narrowMatch ICD10:C54.2 Unspecified -Orphanet:716 Phenylketonuria oboInOwl:hasDbXref MESH:D010661 Unspecified -Orphanet:716 Phenylketonuria oboInOwl:hasDbXref OMIM:261600 Unspecified -Orphanet:716 Phenylketonuria oboInOwl:hasDbXref UMLS:C0031485 Unspecified -Orphanet:716 Phenylketonuria oboInOwl:hasDbXref ICD10:E70.0 Unspecified -Orphanet:716 Phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 Unspecified -Orphanet:716 Phenylketonuria oboInOwl:hasDbXref MedDRA:10034872 Unspecified -Orphanet:716 Phenylketonuria skos:broadMatch ICD10:E70.0 Unspecified -Orphanet:716 Phenylketonuria skos:exactMatch MedDRA:10034872 Unspecified -Orphanet:716 Phenylketonuria skos:exactMatch UMLS:C0031485 Unspecified -Orphanet:716 Phenylketonuria skos:exactMatch OMIM:261600 Unspecified -Orphanet:716 Phenylketonuria skos:exactMatch MESH:D010661 Unspecified -Orphanet:716 Phenylketonuria skos:broadMatch ICD10:E70.1 Unspecified -Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref MESH:D011371 Unspecified -Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref MedDRA:10036794 Unspecified -Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref OMIM:176670 Unspecified -Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref UMLS:C0033300 Unspecified -Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 Unspecified -Orphanet:740 Hutchinson-Gilford progeria syndrome skos:broadMatch ICD10:E34.8 Unspecified -Orphanet:740 Hutchinson-Gilford progeria syndrome skos:exactMatch MESH:D011371 Unspecified -Orphanet:740 Hutchinson-Gilford progeria syndrome skos:exactMatch OMIM:176670 Unspecified -Orphanet:740 Hutchinson-Gilford progeria syndrome skos:exactMatch UMLS:C0033300 Unspecified -Orphanet:740 Hutchinson-Gilford progeria syndrome skos:exactMatch MedDRA:10036794 Unspecified -Orphanet:213726 Papillary carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 Unspecified -Orphanet:213726 Papillary carcinoma of the corpus uteri skos:broadMatch ICD10:C54.1 Unspecified -Orphanet:742 Prolidase deficiency oboInOwl:hasDbXref UMLS:C1534653 Unspecified -Orphanet:742 Prolidase deficiency oboInOwl:hasDbXref OMIM:170100 Unspecified -Orphanet:742 Prolidase deficiency oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:742 Prolidase deficiency oboInOwl:hasDbXref UMLS:C0268532 Unspecified -Orphanet:742 Prolidase deficiency oboInOwl:hasDbXref MESH:D056732 Unspecified -Orphanet:742 Prolidase deficiency skos:exactMatch UMLS:C0268532 Unspecified -Orphanet:742 Prolidase deficiency skos:exactMatch MESH:D056732 Unspecified -Orphanet:742 Prolidase deficiency skos:exactMatch UMLS:C1534653 Unspecified -Orphanet:742 Prolidase deficiency skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:742 Prolidase deficiency skos:exactMatch OMIM:170100 Unspecified -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref ICD10:D81.2 Unspecified -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref OMIM:615617 Unspecified -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref OMIM:615615 Unspecified -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref OMIM:610163 Unspecified -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref OMIM:608971 Unspecified -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:broadMatch ICD10:D81.2 Unspecified -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:narrowMatch OMIM:615615 Unspecified -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:narrowMatch OMIM:615617 Unspecified -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:broadMatch OMIM:608971 Unspecified -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:narrowMatch OMIM:610163 Unspecified -Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref ICD10:D68.5 Unspecified -Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref OMIM:612336 Unspecified -Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref OMIM:614514 Unspecified -Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency skos:broadMatch ICD10:D68.5 Unspecified -Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency skos:narrowMatch OMIM:614514 Unspecified -Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency skos:narrowMatch OMIM:612336 Unspecified -Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref MESH:D024741 Unspecified -Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref OMIM:609015 Unspecified -Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref UMLS:C0342786 Unspecified -Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref UMLS:C1969443 Unspecified -Orphanet:746 Mitochondrial trifunctional protein deficiency skos:exactMatch UMLS:C1969443 Unspecified -Orphanet:746 Mitochondrial trifunctional protein deficiency skos:exactMatch UMLS:C0342786 Unspecified -Orphanet:746 Mitochondrial trifunctional protein deficiency skos:exactMatch MESH:D024741 Unspecified -Orphanet:746 Mitochondrial trifunctional protein deficiency skos:exactMatch OMIM:609015 Unspecified -Orphanet:746 Mitochondrial trifunctional protein deficiency skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref UMLS:C0398625 Unspecified -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref UMLS:C2930896 Unspecified -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref ICD10:D68.2 Unspecified -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref OMIM:176860 Unspecified -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref OMIM:612304 Unspecified -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency skos:broadMatch ICD10:D68.2 Unspecified -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency skos:narrowMatch OMIM:612304 Unspecified -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency skos:narrowMatch OMIM:176860 Unspecified -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch UMLS:C0398625 Unspecified -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch UMLS:C2930896 Unspecified -Orphanet:2940 Porencephaly oboInOwl:hasDbXref MedDRA:10036172 Unspecified -Orphanet:2940 Porencephaly oboInOwl:hasDbXref OMIM:614483 Unspecified -Orphanet:2940 Porencephaly oboInOwl:hasDbXref OMIM:175780 Unspecified -Orphanet:2940 Porencephaly oboInOwl:hasDbXref ICD10:Q04.6 Unspecified -Orphanet:2940 Porencephaly oboInOwl:hasDbXref UMLS:C0302892 Unspecified -Orphanet:2940 Porencephaly skos:exactMatch UMLS:C0302892 Unspecified -Orphanet:2940 Porencephaly skos:broadMatch ICD10:Q04.6 Unspecified -Orphanet:2940 Porencephaly skos:narrowMatch OMIM:614483 Unspecified -Orphanet:2940 Porencephaly skos:narrowMatch OMIM:175780 Unspecified -Orphanet:2940 Porencephaly skos:exactMatch MedDRA:10036172 Unspecified -Orphanet:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref ICD10:C10.8 Unspecified -Orphanet:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref OMIM:275355 Unspecified -Orphanet:500478 Squamous cell carcinoma of the oropharynx skos:broadMatch OMIM:275355 Unspecified -Orphanet:500478 Squamous cell carcinoma of the oropharynx skos:broadMatch ICD10:C10.8 Unspecified -Orphanet:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref UMLS:C0080040 Unspecified -Orphanet:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref ICD10:G14 Unspecified -Orphanet:2942 Postpoliomyelitis syndrome skos:exactMatch ICD10:G14 Unspecified -Orphanet:2942 Postpoliomyelitis syndrome skos:exactMatch UMLS:C0080040 Unspecified -Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref UMLS:C3463916 Unspecified -Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref OMIM:610984 Unspecified -Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:200418 Immunodeficiency with factor I anomaly skos:exactMatch UMLS:C3463916 Unspecified -Orphanet:200418 Immunodeficiency with factor I anomaly skos:exactMatch OMIM:610984 Unspecified -Orphanet:200418 Immunodeficiency with factor I anomaly skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref OMIM:615552 Unspecified -Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref OMIM:615040 Unspecified -Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref ICD10:M79.6 Unspecified -Orphanet:391384 Familial episodic pain syndrome skos:narrowMatch OMIM:615040 Unspecified -Orphanet:391384 Familial episodic pain syndrome skos:broadMatch ICD10:M79.6 Unspecified -Orphanet:391384 Familial episodic pain syndrome skos:narrowMatch OMIM:615552 Unspecified -Orphanet:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS:C1970472 Unspecified -Orphanet:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610910 Unspecified -Orphanet:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 Unspecified -Orphanet:747 Autoimmune pulmonary alveolar proteinosis skos:exactMatch OMIM:610910 Unspecified -Orphanet:747 Autoimmune pulmonary alveolar proteinosis skos:broadMatch ICD10:J84.0 Unspecified -Orphanet:747 Autoimmune pulmonary alveolar proteinosis skos:exactMatch UMLS:C1970472 Unspecified -Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref ICD10:D68.8 Unspecified -Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref OMIM:612423 Unspecified -Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref UMLS:C0272339 Unspecified -Orphanet:749 Congenital prekallikrein deficiency skos:broadMatch ICD10:D68.8 Unspecified -Orphanet:749 Congenital prekallikrein deficiency skos:exactMatch UMLS:C0272339 Unspecified -Orphanet:749 Congenital prekallikrein deficiency skos:exactMatch OMIM:612423 Unspecified -Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C50 Unspecified -Orphanet:213721 Undifferentiated carcinoma of the corpus uteri skos:broadMatch ICD10:C50 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref OMIM:617610 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref MESH:D017044 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref OMIM:263200 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ICD10:Q61.1 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref MedDRA:10036047 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref UMLS:C0085548 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease skos:exactMatch UMLS:C0085548 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease skos:exactMatch ICD10:Q61.1 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease skos:exactMatch MedDRA:10036047 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease skos:narrowMatch OMIM:617610 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease skos:narrowMatch OMIM:263200 Unspecified -Orphanet:731 Autosomal recessive polycystic kidney disease skos:exactMatch MESH:D017044 Unspecified -Orphanet:213716 Squamous cell carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 Unspecified -Orphanet:213716 Squamous cell carcinoma of the corpus uteri skos:broadMatch ICD10:C54.1 Unspecified -Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:173900 Unspecified -Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:613095 Unspecified -Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:600666 Unspecified -Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD10:Q61.2 Unspecified -Orphanet:730 Autosomal dominant polycystic kidney disease skos:exactMatch ICD10:Q61.2 Unspecified -Orphanet:730 Autosomal dominant polycystic kidney disease skos:narrowMatch OMIM:613095 Unspecified -Orphanet:730 Autosomal dominant polycystic kidney disease skos:narrowMatch OMIM:173900 Unspecified -Orphanet:730 Autosomal dominant polycystic kidney disease skos:narrowMatch OMIM:600666 Unspecified -Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 Unspecified -Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C0032580 Unspecified -Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref OMIM:175100 Unspecified -Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref MedDRA:10056981 Unspecified -Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref MESH:D011125 Unspecified -Orphanet:733 Familial adenomatous polyposis skos:broadMatch ICD10:D12.6 Unspecified -Orphanet:733 Familial adenomatous polyposis skos:exactMatch MESH:D011125 Unspecified -Orphanet:733 Familial adenomatous polyposis skos:exactMatch MedDRA:10056981 Unspecified -Orphanet:733 Familial adenomatous polyposis skos:exactMatch UMLS:C0032580 Unspecified -Orphanet:733 Familial adenomatous polyposis skos:exactMatch OMIM:175100 Unspecified -Orphanet:732 Polymyositis oboInOwl:hasDbXref UMLS:C0085655 Unspecified -Orphanet:732 Polymyositis oboInOwl:hasDbXref MedDRA:10036102 Unspecified -Orphanet:732 Polymyositis oboInOwl:hasDbXref MESH:D017285 Unspecified -Orphanet:732 Polymyositis oboInOwl:hasDbXref ICD10:M33.2 Unspecified -Orphanet:732 Polymyositis skos:exactMatch MESH:D017285 Unspecified -Orphanet:732 Polymyositis skos:exactMatch MedDRA:10036102 Unspecified -Orphanet:732 Polymyositis skos:exactMatch ICD10:M33.2 Unspecified -Orphanet:732 Polymyositis skos:exactMatch UMLS:C0085655 Unspecified -Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref OMIM:175800 Unspecified -Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref UMLS:C0949506 Unspecified -Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref OMIM:175900 Unspecified -Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:735 Porokeratosis of Mibelli skos:narrowMatch OMIM:175800 Unspecified -Orphanet:735 Porokeratosis of Mibelli skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:735 Porokeratosis of Mibelli skos:exactMatch UMLS:C0949506 Unspecified -Orphanet:735 Porokeratosis of Mibelli skos:narrowMatch OMIM:175900 Unspecified -Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref OMIM:615548 Unspecified -Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 skos:exactMatch OMIM:615548 Unspecified -Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref ICD10:D69.1 Unspecified -Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref OMIM:185050 Unspecified -Orphanet:734 Alpha delta granule deficiency skos:broadMatch ICD10:D69.1 Unspecified -Orphanet:734 Alpha delta granule deficiency skos:exactMatch OMIM:185050 Unspecified -Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:615539 Unspecified -Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:601776 Unspecified -Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome skos:narrowMatch OMIM:615539 Unspecified -Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome skos:exactMatch OMIM:601776 Unspecified -Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C536197 Unspecified -Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:305200 Unspecified -Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268341 Unspecified -Orphanet:75497 X-linked Ehlers-Danlos syndrome skos:exactMatch UMLS:C0268341 Unspecified -Orphanet:75497 X-linked Ehlers-Danlos syndrome skos:exactMatch OMIM:305200 Unspecified -Orphanet:75497 X-linked Ehlers-Danlos syndrome skos:exactMatch MESH:C536197 Unspecified -Orphanet:75497 X-linked Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref OMIM:175850 Unspecified -Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref UMLS:C0162838 Unspecified -Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:737 Porokeratosis plantaris palmaris et disseminata skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:737 Porokeratosis plantaris palmaris et disseminata skos:exactMatch UMLS:C0162838 Unspecified -Orphanet:737 Porokeratosis plantaris palmaris et disseminata skos:exactMatch OMIM:175850 Unspecified -Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref OMIM:615547 Unspecified -Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref MESH:D011218 Unspecified -Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref MedDRA:10036476 Unspecified -Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref ICD10:Q87.1 Unspecified -Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref UMLS:C0032897 Unspecified -Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref OMIM:176270 Unspecified -Orphanet:739 Prader-Willi syndrome skos:exactMatch MESH:D011218 Unspecified -Orphanet:739 Prader-Willi syndrome skos:exactMatch MedDRA:10036476 Unspecified -Orphanet:739 Prader-Willi syndrome skos:exactMatch OMIM:176270 Unspecified -Orphanet:739 Prader-Willi syndrome skos:exactMatch UMLS:C0032897 Unspecified -Orphanet:739 Prader-Willi syndrome skos:narrowMatch OMIM:615547 Unspecified -Orphanet:739 Prader-Willi syndrome skos:broadMatch ICD10:Q87.1 Unspecified -Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref ICD10:C54.1 Unspecified -Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref UMLS:C0206630 Unspecified -Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref MESH:D018203 Unspecified -Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref MedDRA:10057649 Unspecified -Orphanet:213711 Endometrial stromal sarcoma skos:exactMatch UMLS:C0206630 Unspecified -Orphanet:213711 Endometrial stromal sarcoma skos:exactMatch MESH:D018203 Unspecified -Orphanet:213711 Endometrial stromal sarcoma skos:broadMatch ICD10:C54.1 Unspecified -Orphanet:213711 Endometrial stromal sarcoma skos:exactMatch MedDRA:10057649 Unspecified -Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.8 Unspecified -Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas skos:broadMatch ICD10:C25.8 Unspecified -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref MedDRA:10053250 Unspecified -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref UMLS:C2936915 Unspecified -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref OMIM:232400 Unspecified -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref UMLS:C0017922 Unspecified -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency skos:exactMatch UMLS:C0017922 Unspecified -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency skos:exactMatch UMLS:C2936915 Unspecified -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency skos:exactMatch MedDRA:10053250 Unspecified -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency skos:exactMatch OMIM:232400 Unspecified -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref UMLS:C0017921 Unspecified -Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref OMIM:232300 Unspecified -Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref MESH:D006009 Unspecified -Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref MedDRA:10053185 Unspecified -Orphanet:365 Glycogen storage disease due to acid maltase deficiency skos:exactMatch OMIM:232300 Unspecified -Orphanet:365 Glycogen storage disease due to acid maltase deficiency skos:exactMatch MedDRA:10053185 Unspecified -Orphanet:365 Glycogen storage disease due to acid maltase deficiency skos:exactMatch UMLS:C0017921 Unspecified -Orphanet:365 Glycogen storage disease due to acid maltase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:365 Glycogen storage disease due to acid maltase deficiency skos:exactMatch MESH:D006009 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MedDRA:10018462 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0017924 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref OMIM:232600 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MESH:D006012 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MESH:C537276 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref UMLS:C2936916 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency skos:exactMatch MESH:C537276 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency skos:exactMatch MESH:D006012 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency skos:exactMatch UMLS:C2936916 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency skos:exactMatch OMIM:232600 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency skos:exactMatch MedDRA:10018462 Unspecified -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency skos:exactMatch UMLS:C0017924 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref UMLS:C0017923 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref OMIM:232500 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref UMLS:C1563715 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref MedDRA:10053249 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref OMIM:263570 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch UMLS:C0017923 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency skos:narrowMatch OMIM:263570 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch UMLS:C1563715 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch MedDRA:10053249 Unspecified -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency skos:narrowMatch OMIM:232500 Unspecified -Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0017925 Unspecified -Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref MedDRA:10053240 Unspecified -Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref OMIM:232700 Unspecified -Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency skos:exactMatch OMIM:232700 Unspecified -Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency skos:exactMatch UMLS:C0017925 Unspecified -Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency skos:exactMatch MedDRA:10053240 Unspecified -Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref UMLS:C2930903 Unspecified -Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref UMLS:C1859487 Unspecified -Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref OMIM:210350 Unspecified -Orphanet:141333 Biemond syndrome type 2 skos:exactMatch OMIM:210350 Unspecified -Orphanet:141333 Biemond syndrome type 2 skos:exactMatch UMLS:C1859487 Unspecified -Orphanet:141333 Biemond syndrome type 2 skos:exactMatch UMLS:C2930903 Unspecified -Orphanet:360 Glioblastoma oboInOwl:hasDbXref UMLS:C0017636 Unspecified -Orphanet:360 Glioblastoma oboInOwl:hasDbXref MedDRA:10018336 Unspecified -Orphanet:360 Glioblastoma oboInOwl:hasDbXref OMIM:137800 Unspecified -Orphanet:360 Glioblastoma oboInOwl:hasDbXref OMIM:613029 Unspecified -Orphanet:360 Glioblastoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:360 Glioblastoma oboInOwl:hasDbXref MedDRA:10018337 Unspecified -Orphanet:360 Glioblastoma oboInOwl:hasDbXref UMLS:C1621958 Unspecified -Orphanet:360 Glioblastoma oboInOwl:hasDbXref MESH:D005909 Unspecified -Orphanet:360 Glioblastoma skos:exactMatch MESH:D005909 Unspecified -Orphanet:360 Glioblastoma skos:exactMatch MedDRA:10018337 Unspecified -Orphanet:360 Glioblastoma skos:exactMatch UMLS:C1621958 Unspecified -Orphanet:360 Glioblastoma skos:broadMatch OMIM:613029 Unspecified -Orphanet:360 Glioblastoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:360 Glioblastoma skos:exactMatch MedDRA:10018336 Unspecified -Orphanet:360 Glioblastoma skos:broadMatch OMIM:137800 Unspecified -Orphanet:360 Glioblastoma skos:exactMatch UMLS:C0017636 Unspecified -Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref OMIM:615816 Unspecified -Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:443811 PGM3-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:443811 PGM3-CDG skos:exactMatch OMIM:615816 Unspecified -Orphanet:48918 Focal myositis oboInOwl:hasDbXref ICD10:M60.8 Unspecified -Orphanet:48918 Focal myositis oboInOwl:hasDbXref UMLS:C0751357 Unspecified -Orphanet:48918 Focal myositis skos:broadMatch ICD10:M60.8 Unspecified -Orphanet:48918 Focal myositis skos:exactMatch UMLS:C0751357 Unspecified -Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref OMIM:612219 Unspecified -Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS:C0684337 Unspecified -Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:370348 Peripheral primitive neuroectodermal tumor skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:370348 Peripheral primitive neuroectodermal tumor skos:broadMatch OMIM:612219 Unspecified -Orphanet:370348 Peripheral primitive neuroectodermal tumor skos:exactMatch UMLS:C0684337 Unspecified -Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref ICD10:E27.1 Unspecified -Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:202200 Unspecified -Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:609197 Unspecified -Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:617825 Unspecified -Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:607398 Unspecified -Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:614736 Unspecified -Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:202355 Unspecified -Orphanet:361 Familial glucocorticoid deficiency skos:narrowMatch OMIM:609197 Unspecified -Orphanet:361 Familial glucocorticoid deficiency skos:broadMatch ICD10:E27.1 Unspecified -Orphanet:361 Familial glucocorticoid deficiency skos:narrowMatch OMIM:614736 Unspecified -Orphanet:361 Familial glucocorticoid deficiency skos:narrowMatch OMIM:202355 Unspecified -Orphanet:361 Familial glucocorticoid deficiency skos:exactMatch OMIM:202200 Unspecified -Orphanet:361 Familial glucocorticoid deficiency skos:narrowMatch OMIM:607398 Unspecified -Orphanet:361 Familial glucocorticoid deficiency skos:narrowMatch OMIM:617825 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref UMLS:C2919796 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref UMLS:C0017920 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref OMIM:232200 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref OMIM:232240 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref OMIM:232220 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref MedDRA:10018464 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:narrowMatch OMIM:232240 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:narrowMatch OMIM:232200 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:narrowMatch OMIM:232220 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:exactMatch UMLS:C0017920 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:exactMatch MedDRA:10018464 Unspecified -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:exactMatch UMLS:C2919796 Unspecified -Orphanet:247718 Inflammatory myopathy with abundant macrophages oboInOwl:hasDbXref ICD10:G72.4 Unspecified -Orphanet:247718 Inflammatory myopathy with abundant macrophages skos:broadMatch ICD10:G72.4 Unspecified -Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref UMLS:C2749049 Unspecified -Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:300779 Unspecified -Orphanet:293621 X-linked endothelial corneal dystrophy skos:exactMatch OMIM:300779 Unspecified -Orphanet:293621 X-linked endothelial corneal dystrophy skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:293621 X-linked endothelial corneal dystrophy skos:exactMatch UMLS:C2749049 Unspecified -Orphanet:464756 Familial gastric type 1 neuroendocrine tumor oboInOwl:hasDbXref ICD10:C16.9 Unspecified -Orphanet:464756 Familial gastric type 1 neuroendocrine tumor skos:broadMatch ICD10:C16.9 Unspecified -Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia oboInOwl:hasDbXref OMIM:137200 Unspecified -Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia skos:exactMatch OMIM:137200 Unspecified -Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:289596 Juvenile nasopharyngeal angiofibroma oboInOwl:hasDbXref ICD10:D10.6 Unspecified -Orphanet:289596 Juvenile nasopharyngeal angiofibroma skos:broadMatch ICD10:D10.6 Unspecified -Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:231005 Unspecified -Orphanet:355 Gaucher disease oboInOwl:hasDbXref UMLS:C0017205 Unspecified -Orphanet:355 Gaucher disease oboInOwl:hasDbXref MedDRA:10018048 Unspecified -Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:230800 Unspecified -Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:231000 Unspecified -Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:230900 Unspecified -Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:608013 Unspecified -Orphanet:355 Gaucher disease oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:355 Gaucher disease oboInOwl:hasDbXref MESH:D005776 Unspecified -Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:610539 Unspecified -Orphanet:355 Gaucher disease skos:narrowMatch OMIM:610539 Unspecified -Orphanet:355 Gaucher disease skos:exactMatch MedDRA:10018048 Unspecified -Orphanet:355 Gaucher disease skos:exactMatch UMLS:C0017205 Unspecified -Orphanet:355 Gaucher disease skos:narrowMatch OMIM:230900 Unspecified -Orphanet:355 Gaucher disease skos:narrowMatch OMIM:231000 Unspecified -Orphanet:355 Gaucher disease skos:narrowMatch OMIM:608013 Unspecified -Orphanet:355 Gaucher disease skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:355 Gaucher disease skos:narrowMatch OMIM:230800 Unspecified -Orphanet:355 Gaucher disease skos:narrowMatch OMIM:231005 Unspecified -Orphanet:355 Gaucher disease skos:exactMatch MESH:D005776 Unspecified -Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref MESH:D016537 Unspecified -Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref ICD10:E75.1 Unspecified -Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230600 Unspecified -Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230500 Unspecified -Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref UMLS:C0085131 Unspecified -Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref UMLS:C2718068 Unspecified -Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230650 Unspecified -Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref UMLS:C0268271 Unspecified -Orphanet:354 GM1 gangliosidosis skos:exactMatch UMLS:C2718068 Unspecified -Orphanet:354 GM1 gangliosidosis skos:exactMatch UMLS:C0085131 Unspecified -Orphanet:354 GM1 gangliosidosis skos:broadMatch ICD10:E75.1 Unspecified -Orphanet:354 GM1 gangliosidosis skos:exactMatch UMLS:C0268271 Unspecified -Orphanet:354 GM1 gangliosidosis skos:narrowMatch OMIM:230600 Unspecified -Orphanet:354 GM1 gangliosidosis skos:narrowMatch OMIM:230650 Unspecified -Orphanet:354 GM1 gangliosidosis skos:exactMatch MESH:D016537 Unspecified -Orphanet:354 GM1 gangliosidosis skos:narrowMatch OMIM:230500 Unspecified -Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref UMLS:C0017495 Unspecified -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref OMIM:137440 Unspecified -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MESH:D016098 Unspecified -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MedDRA:10072075 Unspecified -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD10:A81.8 Unspecified -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch MedDRA:10072075 Unspecified -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch MESH:D016098 Unspecified -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch OMIM:137440 Unspecified -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch UMLS:C0017495 Unspecified -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome skos:broadMatch ICD10:A81.8 Unspecified -Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref UMLS:C0339166 Unspecified -Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref ICD10:H13.1* Unspecified -Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref ICD10:A54.3+ Unspecified -Orphanet:1482 Gonococcal conjunctivitis skos:exactMatch ICD10:A54.3+ Unspecified -Orphanet:1482 Gonococcal conjunctivitis skos:exactMatch ICD10:H13.1* Unspecified -Orphanet:1482 Gonococcal conjunctivitis skos:exactMatch UMLS:C0339166 Unspecified -Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref OMIM:263800 Unspecified -Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref MedDRA:10062906 Unspecified -Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref UMLS:C0268450 Unspecified -Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref ICD10:N15.8 Unspecified -Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref MESH:D053579 Unspecified -Orphanet:358 Gitelman syndrome skos:broadMatch ICD10:N15.8 Unspecified -Orphanet:358 Gitelman syndrome skos:exactMatch MESH:D053579 Unspecified -Orphanet:358 Gitelman syndrome skos:exactMatch MedDRA:10062906 Unspecified -Orphanet:358 Gitelman syndrome skos:exactMatch UMLS:C0268450 Unspecified -Orphanet:358 Gitelman syndrome skos:exactMatch OMIM:263800 Unspecified -Orphanet:280315 Autoimmune pancreatitis type 2 oboInOwl:hasDbXref ICD10:K86.1 Unspecified -Orphanet:280315 Autoimmune pancreatitis type 2 skos:broadMatch ICD10:K86.1 Unspecified -Orphanet:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref UMLS:C0279980 Unspecified -Orphanet:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref OMIM:612219 Unspecified -Orphanet:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:370334 Extraskeletal Ewing sarcoma skos:broadMatch OMIM:612219 Unspecified -Orphanet:370334 Extraskeletal Ewing sarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:370334 Extraskeletal Ewing sarcoma skos:exactMatch UMLS:C0279980 Unspecified -Orphanet:351 Galactosialidosis oboInOwl:hasDbXref MESH:C536411 Unspecified -Orphanet:351 Galactosialidosis oboInOwl:hasDbXref UMLS:C0268233 Unspecified -Orphanet:351 Galactosialidosis oboInOwl:hasDbXref OMIM:256540 Unspecified -Orphanet:351 Galactosialidosis oboInOwl:hasDbXref ICD10:E77.1 Unspecified -Orphanet:351 Galactosialidosis skos:exactMatch UMLS:C0268233 Unspecified -Orphanet:351 Galactosialidosis skos:exactMatch MESH:C536411 Unspecified -Orphanet:351 Galactosialidosis skos:broadMatch ICD10:E77.1 Unspecified -Orphanet:351 Galactosialidosis skos:exactMatch OMIM:256540 Unspecified -Orphanet:1489 Whooping cough oboInOwl:hasDbXref UMLS:C0043167 Unspecified -Orphanet:1489 Whooping cough oboInOwl:hasDbXref MedDRA:10047974 Unspecified -Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.1 Unspecified -Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.9 Unspecified -Orphanet:1489 Whooping cough oboInOwl:hasDbXref MESH:D014917 Unspecified -Orphanet:1489 Whooping cough oboInOwl:hasDbXref MedDRA:10034738 Unspecified -Orphanet:1489 Whooping cough oboInOwl:hasDbXref UMLS:C0043168 Unspecified -Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.0 Unspecified -Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.8 Unspecified -Orphanet:1489 Whooping cough skos:narrowMatch ICD10:A37.8 Unspecified -Orphanet:1489 Whooping cough skos:narrowMatch ICD10:A37.0 Unspecified -Orphanet:1489 Whooping cough skos:exactMatch UMLS:C0043168 Unspecified -Orphanet:1489 Whooping cough skos:exactMatch MedDRA:10047974 Unspecified -Orphanet:1489 Whooping cough skos:exactMatch MedDRA:10034738 Unspecified -Orphanet:1489 Whooping cough skos:narrowMatch ICD10:A37.9 Unspecified -Orphanet:1489 Whooping cough skos:narrowMatch ICD10:A37.1 Unspecified -Orphanet:1489 Whooping cough skos:exactMatch MESH:D014917 Unspecified -Orphanet:1489 Whooping cough skos:exactMatch UMLS:C0043167 Unspecified -Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref UMLS:C0410173 Unspecified -Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref OMIM:253700 Unspecified -Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 skos:exactMatch UMLS:C0410173 Unspecified -Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 skos:exactMatch OMIM:253700 Unspecified -Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref OMIM:614561 Unspecified -Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref ICD10:I67.8 Unspecified -Orphanet:542310 Leukoencephalopathy with calcifications and cysts skos:broadMatch ICD10:I67.8 Unspecified -Orphanet:542310 Leukoencephalopathy with calcifications and cysts skos:exactMatch OMIM:614561 Unspecified -Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref OMIM:608340 Unspecified -Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref UMLS:C1842197 Unspecified -Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A skos:exactMatch UMLS:C1842197 Unspecified -Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A skos:exactMatch OMIM:608340 Unspecified -Orphanet:247724 Idiopathic eosinophilic myositis oboInOwl:hasDbXref ICD10:M60.8 Unspecified -Orphanet:247724 Idiopathic eosinophilic myositis skos:broadMatch ICD10:M60.8 Unspecified -Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref MedDRA:10000746 Unspecified -Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref ICD10:O26.6 Unspecified -Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref MESH:C537957 Unspecified -Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref UMLS:C1455728 Unspecified -Orphanet:243367 Acute fatty liver of pregnancy skos:broadMatch ICD10:O26.6 Unspecified -Orphanet:243367 Acute fatty liver of pregnancy skos:exactMatch MESH:C537957 Unspecified -Orphanet:243367 Acute fatty liver of pregnancy skos:exactMatch UMLS:C1455728 Unspecified -Orphanet:243367 Acute fatty liver of pregnancy skos:exactMatch MedDRA:10000746 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:606874 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:613711 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:600155 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:606875 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:613712 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref UMLS:C3661523 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:600156 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref ICD10:Q43.1 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:608462 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:611644 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref MESH:D006627 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref MedDRA:10010539 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref UMLS:C0019569 Unspecified -Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:142623 Unspecified -Orphanet:388 Hirschsprung disease skos:exactMatch MESH:D006627 Unspecified -Orphanet:388 Hirschsprung disease skos:narrowMatch OMIM:600155 Unspecified -Orphanet:388 Hirschsprung disease skos:exactMatch UMLS:C0019569 Unspecified -Orphanet:388 Hirschsprung disease skos:exactMatch MedDRA:10010539 Unspecified -Orphanet:388 Hirschsprung disease skos:narrowMatch OMIM:613711 Unspecified -Orphanet:388 Hirschsprung disease skos:narrowMatch OMIM:606874 Unspecified -Orphanet:388 Hirschsprung disease skos:exactMatch ICD10:Q43.1 Unspecified -Orphanet:388 Hirschsprung disease skos:exactMatch UMLS:C3661523 Unspecified -Orphanet:388 Hirschsprung disease skos:narrowMatch OMIM:611644 Unspecified -Orphanet:388 Hirschsprung disease skos:narrowMatch OMIM:608462 Unspecified -Orphanet:388 Hirschsprung disease skos:narrowMatch OMIM:600156 Unspecified -Orphanet:388 Hirschsprung disease skos:narrowMatch OMIM:613712 Unspecified -Orphanet:388 Hirschsprung disease skos:narrowMatch OMIM:606875 Unspecified -Orphanet:388 Hirschsprung disease skos:narrowMatch OMIM:142623 Unspecified -Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref MESH:D006646 Unspecified -Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.6 Unspecified -Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.0 Unspecified -Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref UMLS:C0019621 Unspecified -Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref OMIM:604856 Unspecified -Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.5 Unspecified -Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref MedDRA:10069698 Unspecified -Orphanet:389 Langerhans cell histiocytosis skos:exactMatch UMLS:C0019621 Unspecified -Orphanet:389 Langerhans cell histiocytosis skos:exactMatch MESH:D006646 Unspecified -Orphanet:389 Langerhans cell histiocytosis skos:exactMatch OMIM:604856 Unspecified -Orphanet:389 Langerhans cell histiocytosis skos:narrowMatch ICD10:C96.5 Unspecified -Orphanet:389 Langerhans cell histiocytosis skos:exactMatch MedDRA:10069698 Unspecified -Orphanet:389 Langerhans cell histiocytosis skos:narrowMatch ICD10:C96.0 Unspecified -Orphanet:389 Langerhans cell histiocytosis skos:narrowMatch ICD10:C96.6 Unspecified -Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome oboInOwl:hasDbXref ICD10:Q04.2 Unspecified -Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome oboInOwl:hasDbXref OMIM:618500 Unspecified -Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome skos:broadMatch OMIM:618500 Unspecified -Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome skos:narrowMatch ICD10:Q04.2 Unspecified -Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref ICD10:M35.8 Unspecified -Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref OMIM:615934 Unspecified -Orphanet:425120 STING-associated vasculopathy with onset in infancy skos:exactMatch OMIM:615934 Unspecified -Orphanet:425120 STING-associated vasculopathy with onset in infancy skos:broadMatch ICD10:M35.8 Unspecified -Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref MESH:C536446 Unspecified -Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref OMIM:218000 Unspecified -Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref UMLS:C0795950 Unspecified -Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome skos:exactMatch OMIM:218000 Unspecified -Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome skos:exactMatch UMLS:C0795950 Unspecified -Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome skos:exactMatch MESH:C536446 Unspecified -Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref UMLS:C0574080 Unspecified -Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref OMIM:612736 Unspecified -Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref MESH:C537622 Unspecified -Orphanet:382 Guanidinoacetate methyltransferase deficiency skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:382 Guanidinoacetate methyltransferase deficiency skos:exactMatch MESH:C537622 Unspecified -Orphanet:382 Guanidinoacetate methyltransferase deficiency skos:exactMatch OMIM:612736 Unspecified -Orphanet:382 Guanidinoacetate methyltransferase deficiency skos:exactMatch UMLS:C0574080 Unspecified -Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref OMIM:214450 Unspecified -Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref OMIM:609227 Unspecified -Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref ICD10:E70.3 Unspecified -Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref OMIM:607624 Unspecified -Orphanet:381 Griscelli syndrome skos:narrowMatch OMIM:609227 Unspecified -Orphanet:381 Griscelli syndrome skos:narrowMatch OMIM:214450 Unspecified -Orphanet:381 Griscelli syndrome skos:broadMatch ICD10:E70.3 Unspecified -Orphanet:381 Griscelli syndrome skos:narrowMatch OMIM:607624 Unspecified -Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:314050 Unspecified -Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch OMIM:314050 Unspecified -Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:384 Huriez syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:384 Huriez syndrome oboInOwl:hasDbXref OMIM:181600 Unspecified -Orphanet:384 Huriez syndrome oboInOwl:hasDbXref UMLS:C0406767 Unspecified -Orphanet:384 Huriez syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:384 Huriez syndrome skos:exactMatch UMLS:C0406767 Unspecified -Orphanet:384 Huriez syndrome skos:exactMatch OMIM:181600 Unspecified -Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref OMIM:617013 Unspecified -Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E83.8 Unspecified -Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome skos:broadMatch ICD10:E83.8 Unspecified -Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome skos:exactMatch OMIM:617013 Unspecified -Orphanet:386 Hepatic cystic hamartoma oboInOwl:hasDbXref UMLS:C0334091 Unspecified -Orphanet:386 Hepatic cystic hamartoma oboInOwl:hasDbXref ICD10:D13.4 Unspecified -Orphanet:386 Hepatic cystic hamartoma skos:narrowMatch ICD10:D13.4 Unspecified -Orphanet:386 Hepatic cystic hamartoma skos:exactMatch UMLS:C0334091 Unspecified -Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref UMLS:C1857569 Unspecified -Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref ICD10:H18.5 Unspecified -Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref OMIM:217700 Unspecified -Orphanet:293603 Congenital hereditary endothelial dystrophy type II skos:exactMatch OMIM:217700 Unspecified -Orphanet:293603 Congenital hereditary endothelial dystrophy type II skos:broadMatch ICD10:H18.5 Unspecified -Orphanet:293603 Congenital hereditary endothelial dystrophy type II skos:exactMatch UMLS:C1857569 Unspecified -Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:306400 Unspecified -Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:233690 Unspecified -Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref ICD10:D71 Unspecified -Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref MedDRA:10008906 Unspecified -Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:613960 Unspecified -Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref MESH:D006105 Unspecified -Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:233700 Unspecified -Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:618935 Unspecified -Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref UMLS:C0018203 Unspecified -Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:233710 Unspecified -Orphanet:379 Chronic granulomatous disease skos:exactMatch MESH:D006105 Unspecified -Orphanet:379 Chronic granulomatous disease skos:exactMatch MedDRA:10008906 Unspecified -Orphanet:379 Chronic granulomatous disease skos:narrowMatch OMIM:233710 Unspecified -Orphanet:379 Chronic granulomatous disease skos:narrowMatch OMIM:618935 Unspecified -Orphanet:379 Chronic granulomatous disease skos:narrowMatch OMIM:613960 Unspecified -Orphanet:379 Chronic granulomatous disease skos:exactMatch UMLS:C0018203 Unspecified -Orphanet:379 Chronic granulomatous disease skos:narrowMatch OMIM:233700 Unspecified -Orphanet:379 Chronic granulomatous disease skos:narrowMatch OMIM:306400 Unspecified -Orphanet:379 Chronic granulomatous disease skos:narrowMatch OMIM:233690 Unspecified -Orphanet:379 Chronic granulomatous disease skos:broadMatch ICD10:D71 Unspecified -Orphanet:3203 Overhydrated hereditary stomatocytosis oboInOwl:hasDbXref ICD10:D58.8 Unspecified -Orphanet:3203 Overhydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:185000 Unspecified -Orphanet:3203 Overhydrated hereditary stomatocytosis skos:exactMatch OMIM:185000 Unspecified -Orphanet:3203 Overhydrated hereditary stomatocytosis skos:broadMatch ICD10:D58.8 Unspecified -Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref OMIM:185070 Unspecified -Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref UMLS:C1861451 Unspecified -Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref ICD10:D69.8 Unspecified -Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome skos:broadMatch ICD10:D69.8 Unspecified -Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome skos:exactMatch UMLS:C1861451 Unspecified -Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome skos:exactMatch OMIM:185070 Unspecified -Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref MedDRA:10053241 Unspecified -Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref UMLS:C0017926 Unspecified -Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref OMIM:232800 Unspecified -Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency skos:exactMatch OMIM:232800 Unspecified -Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency skos:exactMatch MedDRA:10053241 Unspecified -Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency skos:exactMatch UMLS:C0017926 Unspecified -Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref ICD10:N08.5* Unspecified -Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref MedDRA:10018620 Unspecified -Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref UMLS:C0403529 Unspecified -Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref OMIM:233450 Unspecified -Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref ICD10:M31.0+ Unspecified -Orphanet:375 Anti-glomerular basement membrane disease skos:exactMatch UMLS:C0403529 Unspecified -Orphanet:375 Anti-glomerular basement membrane disease skos:exactMatch OMIM:233450 Unspecified -Orphanet:375 Anti-glomerular basement membrane disease skos:exactMatch ICD10:M31.0+ Unspecified -Orphanet:375 Anti-glomerular basement membrane disease skos:exactMatch MedDRA:10018620 Unspecified -Orphanet:375 Anti-glomerular basement membrane disease skos:exactMatch ICD10:N08.5* Unspecified -Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref ICD10:D58.8 Unspecified -Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:616689 Unspecified -Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:194380 Unspecified -Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref UMLS:C0272051 Unspecified -Orphanet:3202 Dehydrated hereditary stomatocytosis skos:exactMatch UMLS:C0272051 Unspecified -Orphanet:3202 Dehydrated hereditary stomatocytosis skos:narrowMatch OMIM:194380 Unspecified -Orphanet:3202 Dehydrated hereditary stomatocytosis skos:broadMatch ICD10:D58.8 Unspecified -Orphanet:3202 Dehydrated hereditary stomatocytosis skos:narrowMatch OMIM:616689 Unspecified -Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref OMIM:618036 Unspecified -Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD skos:exactMatch OMIM:618036 Unspecified -Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:47612 Felty syndrome oboInOwl:hasDbXref MedDRA:10016386 Unspecified -Orphanet:47612 Felty syndrome oboInOwl:hasDbXref OMIM:134750 Unspecified -Orphanet:47612 Felty syndrome oboInOwl:hasDbXref MESH:D005258 Unspecified -Orphanet:47612 Felty syndrome oboInOwl:hasDbXref ICD10:M05.0 Unspecified -Orphanet:47612 Felty syndrome oboInOwl:hasDbXref UMLS:C0015773 Unspecified -Orphanet:47612 Felty syndrome skos:broadMatch ICD10:M05.0 Unspecified -Orphanet:47612 Felty syndrome skos:exactMatch MESH:D005258 Unspecified -Orphanet:47612 Felty syndrome skos:exactMatch UMLS:C0015773 Unspecified -Orphanet:47612 Felty syndrome skos:exactMatch OMIM:134750 Unspecified -Orphanet:47612 Felty syndrome skos:exactMatch MedDRA:10016386 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref UMLS:C1855008 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:252011 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619166 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619224 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619167 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:619166 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:252011 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:619167 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency skos:exactMatch UMLS:C1855008 Unspecified -Orphanet:3208 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:619224 Unspecified -Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref OMIM:607936 Unspecified -Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref OMIM:617115 Unspecified -Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref UMLS:C1838440 Unspecified -Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 Unspecified -Orphanet:289586 Exfoliative ichthyosis skos:exactMatch UMLS:C1838440 Unspecified -Orphanet:289586 Exfoliative ichthyosis skos:narrowMatch OMIM:617115 Unspecified -Orphanet:289586 Exfoliative ichthyosis skos:narrowMatch OMIM:607936 Unspecified -Orphanet:289586 Exfoliative ichthyosis skos:broadMatch ICD10:Q80.8 Unspecified -Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref UMLS:C0015306 Unspecified -Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref ICD10:Q78.6 Unspecified -Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref UMLS:C0206641 Unspecified -Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:133701 Unspecified -Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:600209 Unspecified -Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:133700 Unspecified -Orphanet:321 Multiple osteochondromas skos:exactMatch OMIM:133700 Unspecified -Orphanet:321 Multiple osteochondromas skos:narrowMatch OMIM:600209 Unspecified -Orphanet:321 Multiple osteochondromas skos:exactMatch UMLS:C0206641 Unspecified -Orphanet:321 Multiple osteochondromas skos:exactMatch UMLS:C0015306 Unspecified -Orphanet:321 Multiple osteochondromas skos:narrowMatch OMIM:133701 Unspecified -Orphanet:321 Multiple osteochondromas skos:exactMatch ICD10:Q78.6 Unspecified -Orphanet:324 Fabry disease oboInOwl:hasDbXref UMLS:C0002986 Unspecified -Orphanet:324 Fabry disease oboInOwl:hasDbXref OMIM:301500 Unspecified -Orphanet:324 Fabry disease oboInOwl:hasDbXref MedDRA:10016016 Unspecified -Orphanet:324 Fabry disease oboInOwl:hasDbXref MESH:D000795 Unspecified -Orphanet:324 Fabry disease oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:324 Fabry disease skos:exactMatch MedDRA:10016016 Unspecified -Orphanet:324 Fabry disease skos:exactMatch MESH:D000795 Unspecified -Orphanet:324 Fabry disease skos:exactMatch UMLS:C0002986 Unspecified -Orphanet:324 Fabry disease skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:324 Fabry disease skos:exactMatch OMIM:301500 Unspecified -Orphanet:326 Congenital factor V deficiency oboInOwl:hasDbXref MedDRA:10048930 Unspecified -Orphanet:326 Congenital factor V deficiency oboInOwl:hasDbXref UMLS:C0015499 Unspecified -Orphanet:326 Congenital factor V deficiency oboInOwl:hasDbXref ICD10:D68.2 Unspecified -Orphanet:326 Congenital factor V deficiency oboInOwl:hasDbXref OMIM:227400 Unspecified -Orphanet:326 Congenital factor V deficiency skos:exactMatch OMIM:227400 Unspecified -Orphanet:326 Congenital factor V deficiency skos:exactMatch UMLS:C0015499 Unspecified -Orphanet:326 Congenital factor V deficiency skos:broadMatch ICD10:D68.2 Unspecified -Orphanet:326 Congenital factor V deficiency skos:exactMatch MedDRA:10048930 Unspecified -Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref ICD10:D68.2 Unspecified -Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref UMLS:C0020640 Unspecified -Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref UMLS:C3203356 Unspecified -Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref OMIM:613679 Unspecified -Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref UMLS:C0272317 Unspecified -Orphanet:325 Congenital factor II deficiency skos:exactMatch OMIM:613679 Unspecified -Orphanet:325 Congenital factor II deficiency skos:exactMatch UMLS:C0272317 Unspecified -Orphanet:325 Congenital factor II deficiency skos:exactMatch UMLS:C3203356 Unspecified -Orphanet:325 Congenital factor II deficiency skos:exactMatch UMLS:C0020640 Unspecified -Orphanet:325 Congenital factor II deficiency skos:broadMatch ICD10:D68.2 Unspecified -Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref UMLS:C0015519 Unspecified -Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref OMIM:227600 Unspecified -Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref ICD10:D68.2 Unspecified -Orphanet:328 Congenital factor X deficiency skos:broadMatch ICD10:D68.2 Unspecified -Orphanet:328 Congenital factor X deficiency skos:exactMatch UMLS:C0015519 Unspecified -Orphanet:328 Congenital factor X deficiency skos:exactMatch OMIM:227600 Unspecified -Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref UMLS:C0015503 Unspecified -Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref OMIM:227500 Unspecified -Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref ICD10:D68.2 Unspecified -Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref MedDRA:10016079 Unspecified -Orphanet:327 Congenital factor VII deficiency skos:broadMatch ICD10:D68.2 Unspecified -Orphanet:327 Congenital factor VII deficiency skos:exactMatch MedDRA:10016079 Unspecified -Orphanet:327 Congenital factor VII deficiency skos:exactMatch OMIM:227500 Unspecified -Orphanet:327 Congenital factor VII deficiency skos:exactMatch UMLS:C0015503 Unspecified -Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93.2 Unspecified -Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref MedDRA:10031231 Unspecified -Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref UMLS:C0029421 Unspecified -Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref MESH:D010008 Unspecified -Orphanet:2764 Osteochondritis dissecans skos:exactMatch MESH:D010008 Unspecified -Orphanet:2764 Osteochondritis dissecans skos:exactMatch ICD10:M93.2 Unspecified -Orphanet:2764 Osteochondritis dissecans skos:exactMatch MedDRA:10031231 Unspecified -Orphanet:2764 Osteochondritis dissecans skos:exactMatch UMLS:C0029421 Unspecified -Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref UMLS:C0342488 Unspecified -Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref ICD10:E26.1 Unspecified -Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref MESH:C537422 Unspecified -Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref UMLS:C2936861 Unspecified -Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref UMLS:C3887949 Unspecified -Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref MESH:D043204 Unspecified -Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref OMIM:218030 Unspecified -Orphanet:320 Apparent mineralocorticoid excess skos:broadMatch ICD10:E26.1 Unspecified -Orphanet:320 Apparent mineralocorticoid excess skos:exactMatch UMLS:C3887949 Unspecified -Orphanet:320 Apparent mineralocorticoid excess skos:exactMatch MESH:D043204 Unspecified -Orphanet:320 Apparent mineralocorticoid excess skos:exactMatch OMIM:218030 Unspecified -Orphanet:320 Apparent mineralocorticoid excess skos:exactMatch MESH:C537422 Unspecified -Orphanet:320 Apparent mineralocorticoid excess skos:exactMatch UMLS:C2936861 Unspecified -Orphanet:320 Apparent mineralocorticoid excess skos:exactMatch UMLS:C0342488 Unspecified -Orphanet:459353 C1 inhibitor deficiency oboInOwl:hasDbXref OMIM:120790 Unspecified -Orphanet:459353 C1 inhibitor deficiency oboInOwl:hasDbXref ICD10:D84.1 Unspecified -Orphanet:459353 C1 inhibitor deficiency skos:broadMatch ICD10:D84.1 Unspecified -Orphanet:459353 C1 inhibitor deficiency skos:exactMatch OMIM:120790 Unspecified -Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref ICD10:D68.1 Unspecified -Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref OMIM:612416 Unspecified -Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref UMLS:C0015523 Unspecified -Orphanet:329 Congenital factor XI deficiency skos:exactMatch UMLS:C0015523 Unspecified -Orphanet:329 Congenital factor XI deficiency skos:exactMatch OMIM:612416 Unspecified -Orphanet:329 Congenital factor XI deficiency skos:exactMatch ICD10:D68.1 Unspecified -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 Unspecified -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref MESH:D017490 Unspecified -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:606545 Unspecified -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:613943 Unspecified -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:612281 Unspecified -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref MedDRA:10023686 Unspecified -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:604777 Unspecified -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:242300 Unspecified -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:146750 Unspecified -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:617571 Unspecified -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:601277 Unspecified -Orphanet:313 Lamellar ichthyosis skos:narrowMatch OMIM:601277 Unspecified -Orphanet:313 Lamellar ichthyosis skos:exactMatch MedDRA:10023686 Unspecified -Orphanet:313 Lamellar ichthyosis skos:narrowMatch OMIM:604777 Unspecified -Orphanet:313 Lamellar ichthyosis skos:broadMatch OMIM:242300 Unspecified -Orphanet:313 Lamellar ichthyosis skos:narrowMatch OMIM:617571 Unspecified -Orphanet:313 Lamellar ichthyosis skos:narrowMatch OMIM:606545 Unspecified -Orphanet:313 Lamellar ichthyosis skos:narrowMatch OMIM:612281 Unspecified -Orphanet:313 Lamellar ichthyosis skos:narrowMatch OMIM:613943 Unspecified -Orphanet:313 Lamellar ichthyosis skos:exactMatch MESH:D017490 Unspecified -Orphanet:313 Lamellar ichthyosis skos:exactMatch ICD10:Q80.2 Unspecified -Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref UMLS:C0751161 Unspecified -Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 Unspecified -Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 Unspecified -Orphanet:79238 Galactose epimerase deficiency skos:exactMatch OMIM:230350 Unspecified -Orphanet:79238 Galactose epimerase deficiency skos:exactMatch UMLS:C0751161 Unspecified -Orphanet:79238 Galactose epimerase deficiency skos:broadMatch ICD10:E74.2 Unspecified -Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C0079153 Unspecified -Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:607602 Unspecified -Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:113800 Unspecified -Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.3 Unspecified -Orphanet:312 Autosomal dominant epidermolytic ichthyosis skos:exactMatch OMIM:113800 Unspecified -Orphanet:312 Autosomal dominant epidermolytic ichthyosis skos:exactMatch ICD10:Q80.3 Unspecified -Orphanet:312 Autosomal dominant epidermolytic ichthyosis skos:exactMatch UMLS:C0079153 Unspecified -Orphanet:312 Autosomal dominant epidermolytic ichthyosis skos:narrowMatch OMIM:607602 Unspecified -Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref ICD10:E74.2 Unspecified -Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref UMLS:C0268155 Unspecified -Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref OMIM:230200 Unspecified -Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref UMLS:C0751158 Unspecified -Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref MESH:C535999 Unspecified -Orphanet:79237 Galactokinase deficiency skos:exactMatch MESH:C535999 Unspecified -Orphanet:79237 Galactokinase deficiency skos:exactMatch UMLS:C0268155 Unspecified -Orphanet:79237 Galactokinase deficiency skos:broadMatch ICD10:E74.2 Unspecified -Orphanet:79237 Galactokinase deficiency skos:exactMatch UMLS:C0751158 Unspecified -Orphanet:79237 Galactokinase deficiency skos:exactMatch OMIM:230200 Unspecified -Orphanet:315 Erythrokeratoderma ''en cocardes'' oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:315 Erythrokeratoderma ''en cocardes'' skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref OMIM:609536 Unspecified -Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref ICD10:L21.1 Unspecified -Orphanet:314 Erythroderma desquamativum skos:broadMatch OMIM:609536 Unspecified -Orphanet:314 Erythroderma desquamativum skos:broadMatch ICD10:L21.1 Unspecified -Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref ICD10:E74.2 Unspecified -Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref OMIM:230400 Unspecified -Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref UMLS:C0268151 Unspecified -Orphanet:79239 Classic galactosemia skos:exactMatch UMLS:C0268151 Unspecified -Orphanet:79239 Classic galactosemia skos:broadMatch ICD10:E74.2 Unspecified -Orphanet:79239 Classic galactosemia skos:exactMatch OMIM:230400 Unspecified -Orphanet:280356 PLIN1-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:280356 PLIN1-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:613877 Unspecified -Orphanet:280356 PLIN1-related familial partial lipodystrophy skos:exactMatch OMIM:613877 Unspecified -Orphanet:280356 PLIN1-related familial partial lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:617525 Unspecified -Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref UMLS:C0265961 Unspecified -Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref MedDRA:10049048 Unspecified -Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:617526 Unspecified -Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:617524 Unspecified -Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:133200 Unspecified -Orphanet:317 Erythrokeratodermia variabilis skos:narrowMatch OMIM:617525 Unspecified -Orphanet:317 Erythrokeratodermia variabilis skos:exactMatch MedDRA:10049048 Unspecified -Orphanet:317 Erythrokeratodermia variabilis skos:exactMatch UMLS:C0265961 Unspecified -Orphanet:317 Erythrokeratodermia variabilis skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:317 Erythrokeratodermia variabilis skos:narrowMatch OMIM:617526 Unspecified -Orphanet:317 Erythrokeratodermia variabilis skos:narrowMatch OMIM:617524 Unspecified -Orphanet:317 Erythrokeratodermia variabilis skos:broadMatch OMIM:133200 Unspecified -Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:619209 Unspecified -Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:133200 Unspecified -Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:617756 Unspecified -Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:618531 Unspecified -Orphanet:316 Progressive symmetric erythrokeratodermia skos:narrowMatch OMIM:618531 Unspecified -Orphanet:316 Progressive symmetric erythrokeratodermia skos:narrowMatch OMIM:617756 Unspecified -Orphanet:316 Progressive symmetric erythrokeratodermia skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:316 Progressive symmetric erythrokeratodermia skos:narrowMatch OMIM:619209 Unspecified -Orphanet:79230 Hemochromatosis type 2 oboInOwl:hasDbXref MESH:C537247 Unspecified -Orphanet:79230 Hemochromatosis type 2 oboInOwl:hasDbXref UMLS:C0268060 Unspecified -Orphanet:79230 Hemochromatosis type 2 oboInOwl:hasDbXref OMIM:602390 Unspecified -Orphanet:79230 Hemochromatosis type 2 oboInOwl:hasDbXref ICD10:E83.1 Unspecified -Orphanet:79230 Hemochromatosis type 2 oboInOwl:hasDbXref OMIM:613313 Unspecified -Orphanet:79230 Hemochromatosis type 2 skos:broadMatch ICD10:E83.1 Unspecified -Orphanet:79230 Hemochromatosis type 2 skos:exactMatch MESH:C537247 Unspecified -Orphanet:79230 Hemochromatosis type 2 skos:narrowMatch OMIM:613313 Unspecified -Orphanet:79230 Hemochromatosis type 2 skos:exactMatch UMLS:C0268060 Unspecified -Orphanet:79230 Hemochromatosis type 2 skos:exactMatch OMIM:602390 Unspecified -Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref UMLS:C0268117 Unspecified -Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref OMIM:300323 Unspecified -Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch OMIM:300323 Unspecified -Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch UMLS:C0268117 Unspecified -Orphanet:357329 Combined immunodeficiency due to IL21R deficiency oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:357329 Combined immunodeficiency due to IL21R deficiency oboInOwl:hasDbXref OMIM:615207 Unspecified -Orphanet:357329 Combined immunodeficiency due to IL21R deficiency skos:exactMatch OMIM:615207 Unspecified -Orphanet:357329 Combined immunodeficiency due to IL21R deficiency skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref OMIM:117210 Unspecified -Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref UMLS:C1861736 Unspecified -Orphanet:217012 Spinocerebellar ataxia type 31 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:217012 Spinocerebellar ataxia type 31 skos:exactMatch UMLS:C1861736 Unspecified -Orphanet:217012 Spinocerebellar ataxia type 31 skos:exactMatch OMIM:117210 Unspecified -Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome oboInOwl:hasDbXref ICD10:K83.1 Unspecified -Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:broadMatch ICD10:K83.1 Unspecified -Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref UMLS:C1260965 Unspecified -Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref ICD10:D17.9 Unspecified -Orphanet:247762 Lipoblastoma skos:broadMatch ICD10:D17.9 Unspecified -Orphanet:247762 Lipoblastoma skos:exactMatch UMLS:C1260965 Unspecified -Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.4 Unspecified -Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.2 Unspecified -Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref OMIM:612219 Unspecified -Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.3 Unspecified -Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.1 Unspecified -Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref MedDRA:10015560 Unspecified -Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref UMLS:C0553580 Unspecified -Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.3 Unspecified -Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.2 Unspecified -Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.0 Unspecified -Orphanet:319 Skeletal Ewing sarcoma skos:broadMatch ICD10:C41.2 Unspecified -Orphanet:319 Skeletal Ewing sarcoma skos:broadMatch ICD10:C41.4 Unspecified -Orphanet:319 Skeletal Ewing sarcoma skos:exactMatch UMLS:C0553580 Unspecified -Orphanet:319 Skeletal Ewing sarcoma skos:broadMatch ICD10:C40.1 Unspecified -Orphanet:319 Skeletal Ewing sarcoma skos:broadMatch ICD10:C40.3 Unspecified -Orphanet:319 Skeletal Ewing sarcoma skos:exactMatch MedDRA:10015560 Unspecified -Orphanet:319 Skeletal Ewing sarcoma skos:broadMatch ICD10:C41.3 Unspecified -Orphanet:319 Skeletal Ewing sarcoma skos:exactMatch OMIM:612219 Unspecified -Orphanet:319 Skeletal Ewing sarcoma skos:broadMatch ICD10:C40.0 Unspecified -Orphanet:319 Skeletal Ewing sarcoma skos:broadMatch ICD10:C40.2 Unspecified -Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref OMIM:133180 Unspecified -Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref ICD10:C94.0 Unspecified -Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref UMLS:C0023440 Unspecified -Orphanet:318 Acute erythroid leukemia skos:broadMatch ICD10:C94.0 Unspecified -Orphanet:318 Acute erythroid leukemia skos:narrowMatch OMIM:133180 Unspecified -Orphanet:318 Acute erythroid leukemia skos:exactMatch UMLS:C0023440 Unspecified -Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome oboInOwl:hasDbXref OMIM:614487 Unspecified -Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome skos:exactMatch OMIM:614487 Unspecified -Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:346 Quinquaud folliculitis decalvans oboInOwl:hasDbXref ICD10:L66.2 Unspecified -Orphanet:346 Quinquaud folliculitis decalvans skos:exactMatch ICD10:L66.2 Unspecified -Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref MedDRA:10056961 Unspecified -Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref OMIM:260910 Unspecified -Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref ICD10:L66.3 Unspecified -Orphanet:345 Dissecting cellulitis of the scalp skos:exactMatch ICD10:L66.3 Unspecified -Orphanet:345 Dissecting cellulitis of the scalp skos:exactMatch OMIM:260910 Unspecified -Orphanet:345 Dissecting cellulitis of the scalp skos:exactMatch MedDRA:10056961 Unspecified -Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref UMLS:C0016756 Unspecified -Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref ICD10:E74.1 Unspecified -Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref OMIM:229700 Unspecified -Orphanet:348 Fructose-1,6-bisphosphatase deficiency skos:exactMatch OMIM:229700 Unspecified -Orphanet:348 Fructose-1,6-bisphosphatase deficiency skos:broadMatch ICD10:E74.1 Unspecified -Orphanet:348 Fructose-1,6-bisphosphatase deficiency skos:exactMatch UMLS:C0016756 Unspecified -Orphanet:347 Frasier syndrome oboInOwl:hasDbXref OMIM:136680 Unspecified -Orphanet:347 Frasier syndrome oboInOwl:hasDbXref ICD10:N04.1 Unspecified -Orphanet:347 Frasier syndrome oboInOwl:hasDbXref MESH:D052159 Unspecified -Orphanet:347 Frasier syndrome oboInOwl:hasDbXref UMLS:C0950122 Unspecified -Orphanet:347 Frasier syndrome skos:exactMatch UMLS:C0950122 Unspecified -Orphanet:347 Frasier syndrome skos:exactMatch MESH:D052159 Unspecified -Orphanet:347 Frasier syndrome skos:broadMatch ICD10:N04.1 Unspecified -Orphanet:347 Frasier syndrome skos:exactMatch OMIM:136680 Unspecified -Orphanet:349 Fucosidosis oboInOwl:hasDbXref ICD10:E77.1 Unspecified -Orphanet:349 Fucosidosis oboInOwl:hasDbXref OMIM:230000 Unspecified -Orphanet:349 Fucosidosis oboInOwl:hasDbXref MESH:D005645 Unspecified -Orphanet:349 Fucosidosis oboInOwl:hasDbXref UMLS:C0016788 Unspecified -Orphanet:349 Fucosidosis skos:exactMatch UMLS:C0016788 Unspecified -Orphanet:349 Fucosidosis skos:broadMatch ICD10:E77.1 Unspecified -Orphanet:349 Fucosidosis skos:exactMatch OMIM:230000 Unspecified -Orphanet:349 Fucosidosis skos:exactMatch MESH:D005645 Unspecified -Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref OMIM:259730 Unspecified -Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref UMLS:C1849435 Unspecified -Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref ICD10:Q78.2 Unspecified -Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref MESH:C536058 Unspecified -Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref OMIM:267200 Unspecified -Orphanet:2785 Osteopetrosis with renal tubular acidosis skos:narrowMatch OMIM:267200 Unspecified -Orphanet:2785 Osteopetrosis with renal tubular acidosis skos:broadMatch ICD10:Q78.2 Unspecified -Orphanet:2785 Osteopetrosis with renal tubular acidosis skos:exactMatch MESH:C536058 Unspecified -Orphanet:2785 Osteopetrosis with renal tubular acidosis skos:exactMatch OMIM:259730 Unspecified -Orphanet:2785 Osteopetrosis with renal tubular acidosis skos:exactMatch UMLS:C1849435 Unspecified -Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref ICD10:E85.0 Unspecified -Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref UMLS:C0409818 Unspecified -Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref OMIM:607115 Unspecified -Orphanet:1451 CINCA syndrome skos:exactMatch OMIM:607115 Unspecified -Orphanet:1451 CINCA syndrome skos:exactMatch UMLS:C0409818 Unspecified -Orphanet:1451 CINCA syndrome skos:broadMatch ICD10:E85.0 Unspecified -Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref UMLS:C0432252 Unspecified -Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref ICD10:Q87.5 Unspecified -Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MedDRA:10052452 Unspecified -Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref OMIM:259770 Unspecified -Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MESH:C536063 Unspecified -Orphanet:2788 Osteoporosis-pseudoglioma syndrome skos:broadMatch ICD10:Q87.5 Unspecified -Orphanet:2788 Osteoporosis-pseudoglioma syndrome skos:exactMatch MESH:C536063 Unspecified -Orphanet:2788 Osteoporosis-pseudoglioma syndrome skos:exactMatch MedDRA:10052452 Unspecified -Orphanet:2788 Osteoporosis-pseudoglioma syndrome skos:exactMatch UMLS:C0432252 Unspecified -Orphanet:2788 Osteoporosis-pseudoglioma syndrome skos:exactMatch OMIM:259770 Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref ICD10:A98.5+ Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MedDRA:10023484 Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MESH:D006480 Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref ICD10:N08.0* Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref UMLS:C2930957 Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MESH:C535630 Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref UMLS:C0019101 Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome skos:exactMatch MESH:C535630 Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome skos:exactMatch UMLS:C0019101 Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome skos:exactMatch MESH:D006480 Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome skos:exactMatch MedDRA:10023484 Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome skos:exactMatch ICD10:A98.5+ Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome skos:exactMatch ICD10:N08.0* Unspecified -Orphanet:340 Hemorrhagic fever-renal syndrome skos:exactMatch UMLS:C2930957 Unspecified -Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref MedDRA:10016207 Unspecified -Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref OMIM:249100 Unspecified -Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref MESH:D010505 Unspecified -Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref UMLS:C0031069 Unspecified -Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref ICD10:E85.0 Unspecified -Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref OMIM:134610 Unspecified -Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref UMLS:C0585274 Unspecified -Orphanet:342 Familial Mediterranean fever skos:exactMatch UMLS:C0031069 Unspecified -Orphanet:342 Familial Mediterranean fever skos:exactMatch UMLS:C0585274 Unspecified -Orphanet:342 Familial Mediterranean fever skos:exactMatch OMIM:249100 Unspecified -Orphanet:342 Familial Mediterranean fever skos:narrowMatch OMIM:134610 Unspecified -Orphanet:342 Familial Mediterranean fever skos:broadMatch ICD10:E85.0 Unspecified -Orphanet:342 Familial Mediterranean fever skos:exactMatch MedDRA:10016207 Unspecified -Orphanet:342 Familial Mediterranean fever skos:exactMatch MESH:D010505 Unspecified -Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:619113 Unspecified -Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:619111 Unspecified -Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref UMLS:C1857662 Unspecified -Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref ICD10:Q04.3 Unspecified -Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:216360 Unspecified -Orphanet:1454 Joubert syndrome with hepatic defect skos:broadMatch ICD10:Q04.3 Unspecified -Orphanet:1454 Joubert syndrome with hepatic defect skos:narrowMatch OMIM:619111 Unspecified -Orphanet:1454 Joubert syndrome with hepatic defect skos:narrowMatch OMIM:619113 Unspecified -Orphanet:1454 Joubert syndrome with hepatic defect skos:narrowMatch OMIM:216360 Unspecified -Orphanet:1454 Joubert syndrome with hepatic defect skos:exactMatch UMLS:C1857662 Unspecified -Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome oboInOwl:hasDbXref OMIM:226810 Unspecified -Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch OMIM:226810 Unspecified -Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome oboInOwl:hasDbXref OMIM:617021 Unspecified -Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:exactMatch OMIM:617021 Unspecified -Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:324422 ALG13-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:324422 ALG13-CDG oboInOwl:hasDbXref OMIM:300884 Unspecified -Orphanet:324422 ALG13-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:324422 ALG13-CDG skos:broadMatch OMIM:300884 Unspecified -Orphanet:333 Farber disease oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:333 Farber disease oboInOwl:hasDbXref UMLS:C0268255 Unspecified -Orphanet:333 Farber disease oboInOwl:hasDbXref MESH:D055577 Unspecified -Orphanet:333 Farber disease oboInOwl:hasDbXref OMIM:228000 Unspecified -Orphanet:333 Farber disease oboInOwl:hasDbXref UMLS:C2936785 Unspecified -Orphanet:333 Farber disease oboInOwl:hasDbXref MESH:C537075 Unspecified -Orphanet:333 Farber disease skos:exactMatch MESH:C537075 Unspecified -Orphanet:333 Farber disease skos:exactMatch UMLS:C2936785 Unspecified -Orphanet:333 Farber disease skos:exactMatch OMIM:228000 Unspecified -Orphanet:333 Farber disease skos:exactMatch MESH:D055577 Unspecified -Orphanet:333 Farber disease skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:333 Farber disease skos:exactMatch UMLS:C0268255 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref OMIM:243320 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref UMLS:C0340957 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref OMIM:261000 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref MedDRA:10070440 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref ICD10:D51.0 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref UMLS:C1394891 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency skos:exactMatch MedDRA:10070440 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency skos:exactMatch OMIM:261000 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency skos:narrowMatch OMIM:243320 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency skos:exactMatch UMLS:C1394891 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency skos:broadMatch ICD10:D51.0 Unspecified -Orphanet:332 Congenital intrinsic factor deficiency skos:exactMatch UMLS:C0340957 Unspecified -Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 oboInOwl:hasDbXref OMIM:613818 Unspecified -Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 skos:exactMatch OMIM:613818 Unspecified -Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref OMIM:616004 Unspecified -Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref ICD10:D68.2 Unspecified -Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref OMIM:202400 Unspecified -Orphanet:335 Congenital fibrinogen deficiency skos:narrowMatch OMIM:202400 Unspecified -Orphanet:335 Congenital fibrinogen deficiency skos:broadMatch ICD10:D68.2 Unspecified -Orphanet:335 Congenital fibrinogen deficiency skos:narrowMatch OMIM:616004 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref ICD10:I48.9 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:614022 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:611494 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:608988 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:607554 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:612240 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:613120 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:615377 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:613980 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:608583 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:613055 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:614049 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:614050 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:611493 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:612201 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:611819 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:615770 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:615378 Unspecified -Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:617280 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:615377 Unspecified -Orphanet:334 Familial atrial fibrillation skos:broadMatch OMIM:613120 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:612240 Unspecified -Orphanet:334 Familial atrial fibrillation skos:exactMatch OMIM:608583 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:611494 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:607554 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:608988 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:613980 Unspecified -Orphanet:334 Familial atrial fibrillation skos:broadMatch ICD10:I48.9 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:614022 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:617280 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:615770 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:615378 Unspecified -Orphanet:334 Familial atrial fibrillation skos:broadMatch OMIM:611819 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:611493 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:612201 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:614050 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:614049 Unspecified -Orphanet:334 Familial atrial fibrillation skos:narrowMatch OMIM:613055 Unspecified -Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ICD10:M61.1 Unspecified -Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref OMIM:135100 Unspecified -Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref UMLS:C0016037 Unspecified -Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref MedDRA:10068715 Unspecified -Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref MESH:D009221 Unspecified -Orphanet:337 Fibrodysplasia ossificans progressiva skos:exactMatch MESH:D009221 Unspecified -Orphanet:337 Fibrodysplasia ossificans progressiva skos:exactMatch MedDRA:10068715 Unspecified -Orphanet:337 Fibrodysplasia ossificans progressiva skos:exactMatch UMLS:C0016037 Unspecified -Orphanet:337 Fibrodysplasia ossificans progressiva skos:exactMatch ICD10:M61.1 Unspecified -Orphanet:337 Fibrodysplasia ossificans progressiva skos:exactMatch OMIM:135100 Unspecified -Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615160 Unspecified -Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615159 Unspecified -Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615157 Unspecified -Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:124000 Unspecified -Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615838 Unspecified -Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615453 Unspecified -Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:618775 Unspecified -Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:616111 Unspecified -Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615158 Unspecified -Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615824 Unspecified -Orphanet:1460 Isolated complex III deficiency skos:narrowMatch OMIM:615838 Unspecified -Orphanet:1460 Isolated complex III deficiency skos:narrowMatch OMIM:124000 Unspecified -Orphanet:1460 Isolated complex III deficiency skos:narrowMatch OMIM:615157 Unspecified -Orphanet:1460 Isolated complex III deficiency skos:narrowMatch OMIM:615159 Unspecified -Orphanet:1460 Isolated complex III deficiency skos:narrowMatch OMIM:615160 Unspecified -Orphanet:1460 Isolated complex III deficiency skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:1460 Isolated complex III deficiency skos:narrowMatch OMIM:615453 Unspecified -Orphanet:1460 Isolated complex III deficiency skos:narrowMatch OMIM:615824 Unspecified -Orphanet:1460 Isolated complex III deficiency skos:narrowMatch OMIM:615158 Unspecified -Orphanet:1460 Isolated complex III deficiency skos:narrowMatch OMIM:616111 Unspecified -Orphanet:1460 Isolated complex III deficiency skos:narrowMatch OMIM:618775 Unspecified -Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref MedDRA:10056667 Unspecified -Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref MESH:D055952 Unspecified -Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref ICD10:H16.3 Unspecified -Orphanet:1467 Cogan syndrome skos:broadMatch ICD10:H16.3 Unspecified -Orphanet:1467 Cogan syndrome skos:exactMatch MESH:D055952 Unspecified -Orphanet:1467 Cogan syndrome skos:exactMatch MedDRA:10056667 Unspecified -Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref OMIM:613225 Unspecified -Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref ICD10:D68.2 Unspecified -Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref UMLS:C0015530 Unspecified -Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref OMIM:613235 Unspecified -Orphanet:331 Congenital factor XIII deficiency skos:narrowMatch OMIM:613235 Unspecified -Orphanet:331 Congenital factor XIII deficiency skos:broadMatch ICD10:D68.2 Unspecified -Orphanet:331 Congenital factor XIII deficiency skos:narrowMatch OMIM:613225 Unspecified -Orphanet:331 Congenital factor XIII deficiency skos:exactMatch UMLS:C0015530 Unspecified -Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref ICD10:D68.2 Unspecified -Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref OMIM:234000 Unspecified -Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref UMLS:C0015526 Unspecified -Orphanet:330 Congenital factor XII deficiency skos:broadMatch ICD10:D68.2 Unspecified -Orphanet:330 Congenital factor XII deficiency skos:exactMatch UMLS:C0015526 Unspecified -Orphanet:330 Congenital factor XII deficiency skos:exactMatch OMIM:234000 Unspecified -Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref UMLS:C2931462 Unspecified -Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref ICD10:N39.8 Unspecified -Orphanet:2795 Fowler urethral sphincter dysfunction syndrome skos:broadMatch ICD10:N39.8 Unspecified -Orphanet:2795 Fowler urethral sphincter dysfunction syndrome skos:exactMatch UMLS:C2931462 Unspecified -Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref OMIM:616483 Unspecified -Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref OMIM:618641 Unspecified -Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref ICD10:K72.0 Unspecified -Orphanet:464724 Fever-associated acute infantile liver failure syndrome skos:broadMatch ICD10:K72.0 Unspecified -Orphanet:464724 Fever-associated acute infantile liver failure syndrome skos:exactMatch OMIM:618641 Unspecified -Orphanet:464724 Fever-associated acute infantile liver failure syndrome skos:exactMatch OMIM:616483 Unspecified -Orphanet:521450 LAMA5-related multisystemic syndrome oboInOwl:hasDbXref ICD10:M79.8 Unspecified -Orphanet:521450 LAMA5-related multisystemic syndrome skos:broadMatch ICD10:M79.8 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619031 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618922 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619268 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619000 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618906 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619264 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619244 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619239 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:606053 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619099 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619091 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618971 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619314 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618342 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619149 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619125 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618430 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618292 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618009 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:309590 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618470 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:617755 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619056 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618914 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619005 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619243 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619092 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619083 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619076 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619072 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618974 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618569 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref ICD10:F84.8 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619320 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619306 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619157 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:301029 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618659 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618653 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618430 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618470 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:309590 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618009 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619239 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:606053 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618292 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619264 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619000 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619244 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618922 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619268 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618906 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619031 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618971 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619091 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619099 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618342 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619314 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619125 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619149 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618653 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618659 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:301029 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619243 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619005 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618914 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619056 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:617755 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619083 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619076 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619072 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618974 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619092 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618569 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619306 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619320 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:broadMatch ICD10:F84.8 Unspecified -Orphanet:528084 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619157 Unspecified -Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome oboInOwl:hasDbXref OMIM:300886 Unspecified -Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch OMIM:300886 Unspecified -Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref UMLS:C0154682 Unspecified -Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref OMIM:611637 Unspecified -Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref MedDRA:10036704 Unspecified -Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref UMLS:C1968845 Unspecified -Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:35689 Primary lateral sclerosis skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:35689 Primary lateral sclerosis skos:exactMatch UMLS:C0154682 Unspecified -Orphanet:35689 Primary lateral sclerosis skos:exactMatch OMIM:611637 Unspecified -Orphanet:35689 Primary lateral sclerosis skos:exactMatch MedDRA:10036704 Unspecified -Orphanet:35689 Primary lateral sclerosis skos:exactMatch UMLS:C1968845 Unspecified -Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref MedDRA:10060801 Unspecified -Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref UMLS:C0878675 Unspecified -Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref ICD10:D76.3 Unspecified -Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref MESH:D031249 Unspecified -Orphanet:35687 Erdheim-Chester disease skos:exactMatch UMLS:C0878675 Unspecified -Orphanet:35687 Erdheim-Chester disease skos:exactMatch MedDRA:10060801 Unspecified -Orphanet:35687 Erdheim-Chester disease skos:broadMatch ICD10:D76.3 Unspecified -Orphanet:35687 Erdheim-Chester disease skos:exactMatch MESH:D031249 Unspecified -Orphanet:35686 Serpiginous choroiditis oboInOwl:hasDbXref ICD10:H30.8 Unspecified -Orphanet:35686 Serpiginous choroiditis oboInOwl:hasDbXref UMLS:C0729842 Unspecified -Orphanet:35686 Serpiginous choroiditis skos:exactMatch UMLS:C0729842 Unspecified -Orphanet:35686 Serpiginous choroiditis skos:broadMatch ICD10:H30.8 Unspecified -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MESH:C537948 Unspecified -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 Unspecified -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C2931673 Unspecified -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 Unspecified -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0268281 Unspecified -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C0268281 Unspecified -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C2931673 Unspecified -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis skos:broadMatch ICD10:E75.4 Unspecified -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis skos:exactMatch OMIM:256730 Unspecified -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MESH:C537948 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0022797 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204300 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C2931675 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:162350 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MESH:C537950 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:615362 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:601780 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:614706 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis skos:broadMatch ICD10:E75.4 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:601780 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:614706 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:615362 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204300 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis skos:exactMatch MESH:C537950 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256730 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C0022797 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:162350 Unspecified -Orphanet:79262 Adult neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C2931675 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:600143 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204200 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0751383 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MedDRA:10052073 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204500 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:609055 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204500 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C0751383 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:609055 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256730 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MedDRA:10052073 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis skos:broadMatch ICD10:E75.4 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204200 Unspecified -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:600143 Unspecified -Orphanet:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref OMIM:608611 Unspecified -Orphanet:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref UMLS:C1291609 Unspecified -Orphanet:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:440706 Ribose-5-P isomerase deficiency skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:440706 Ribose-5-P isomerase deficiency skos:exactMatch OMIM:608611 Unspecified -Orphanet:440706 Ribose-5-P isomerase deficiency skos:exactMatch UMLS:C1291609 Unspecified -Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome oboInOwl:hasDbXref OMIM:612018 Unspecified -Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch OMIM:612018 Unspecified -Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:247790 FTH1-related iron overload oboInOwl:hasDbXref OMIM:615517 Unspecified -Orphanet:247790 FTH1-related iron overload oboInOwl:hasDbXref ICD10:E83.1 Unspecified -Orphanet:247790 FTH1-related iron overload skos:broadMatch ICD10:E83.1 Unspecified -Orphanet:247790 FTH1-related iron overload skos:exactMatch OMIM:615517 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref UMLS:C1328840 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:601859 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:618534 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MedDRA:10069521 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:615559 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:603909 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MESH:D056735 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD10:D47.9 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome skos:narrowMatch OMIM:603909 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome skos:exactMatch MESH:D056735 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome skos:narrowMatch OMIM:615559 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome skos:broadMatch ICD10:D47.9 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome skos:narrowMatch OMIM:618534 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome skos:exactMatch MedDRA:10069521 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 Unspecified -Orphanet:3261 Autoimmune lymphoproliferative syndrome skos:exactMatch UMLS:C1328840 Unspecified -Orphanet:280397 Familial Alzheimer-like prion disease oboInOwl:hasDbXref ICD10:A81.8 Unspecified -Orphanet:280397 Familial Alzheimer-like prion disease skos:broadMatch ICD10:A81.8 Unspecified -Orphanet:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies oboInOwl:hasDbXref ICD10:G61.8 Unspecified -Orphanet:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies skos:broadMatch ICD10:G61.8 Unspecified -Orphanet:3260 Idiopathic hypereosinophilic syndrome oboInOwl:hasDbXref UMLS:C0206141 Unspecified -Orphanet:3260 Idiopathic hypereosinophilic syndrome oboInOwl:hasDbXref OMIM:607685 Unspecified -Orphanet:3260 Idiopathic hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 Unspecified -Orphanet:3260 Idiopathic hypereosinophilic syndrome skos:broadMatch ICD10:D47.5 Unspecified -Orphanet:3260 Idiopathic hypereosinophilic syndrome skos:exactMatch UMLS:C0206141 Unspecified -Orphanet:3260 Idiopathic hypereosinophilic syndrome skos:exactMatch OMIM:607685 Unspecified -Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref UMLS:C0162531 Unspecified -Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref ICD10:E80.2 Unspecified -Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref MedDRA:10019866 Unspecified -Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref OMIM:121300 Unspecified -Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref MESH:D046349 Unspecified -Orphanet:79273 Hereditary coproporphyria skos:exactMatch OMIM:121300 Unspecified -Orphanet:79273 Hereditary coproporphyria skos:broadMatch ICD10:E80.2 Unspecified -Orphanet:79273 Hereditary coproporphyria skos:exactMatch MESH:D046349 Unspecified -Orphanet:79273 Hereditary coproporphyria skos:exactMatch MedDRA:10019866 Unspecified -Orphanet:79273 Hereditary coproporphyria skos:exactMatch UMLS:C0162531 Unspecified -Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref MESH:D017118 Unspecified -Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref UMLS:C0162565 Unspecified -Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref ICD10:E80.2 Unspecified -Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref OMIM:176000 Unspecified -Orphanet:79276 Acute intermittent porphyria skos:broadMatch ICD10:E80.2 Unspecified -Orphanet:79276 Acute intermittent porphyria skos:exactMatch OMIM:176000 Unspecified -Orphanet:79276 Acute intermittent porphyria skos:exactMatch MESH:D017118 Unspecified -Orphanet:79276 Acute intermittent porphyria skos:exactMatch UMLS:C0162565 Unspecified -Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref ICD10:E80.0 Unspecified -Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref MESH:D046351 Unspecified -Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref UMLS:C0162568 Unspecified -Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref MedDRA:10015289 Unspecified -Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:177000 Unspecified -Orphanet:79278 Autosomal erythropoietic protoporphyria skos:exactMatch OMIM:177000 Unspecified -Orphanet:79278 Autosomal erythropoietic protoporphyria skos:exactMatch MedDRA:10015289 Unspecified -Orphanet:79278 Autosomal erythropoietic protoporphyria skos:exactMatch MESH:D046351 Unspecified -Orphanet:79278 Autosomal erythropoietic protoporphyria skos:broadMatch ICD10:E80.0 Unspecified -Orphanet:79278 Autosomal erythropoietic protoporphyria skos:exactMatch UMLS:C0162568 Unspecified -Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref OMIM:263700 Unspecified -Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.0 Unspecified -Orphanet:79277 Congenital erythropoietic porphyria skos:broadMatch ICD10:E80.0 Unspecified -Orphanet:79277 Congenital erythropoietic porphyria skos:exactMatch OMIM:263700 Unspecified -Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref ICD10:M33.2 Unspecified -Orphanet:93568 Juvenile polymyositis skos:broadMatch ICD10:M33.2 Unspecified -Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref UMLS:C1833661 Unspecified -Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref OMIM:167400 Unspecified -Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref ICD10:G90.8 Unspecified -Orphanet:46348 Paroxysmal extreme pain disorder skos:exactMatch UMLS:C1833661 Unspecified -Orphanet:46348 Paroxysmal extreme pain disorder skos:exactMatch OMIM:167400 Unspecified -Orphanet:46348 Paroxysmal extreme pain disorder skos:broadMatch ICD10:G90.8 Unspecified -Orphanet:440713 Isolated sedoheptulokinase deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:440713 Isolated sedoheptulokinase deficiency oboInOwl:hasDbXref OMIM:617213 Unspecified -Orphanet:440713 Isolated sedoheptulokinase deficiency skos:exactMatch OMIM:617213 Unspecified -Orphanet:440713 Isolated sedoheptulokinase deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref UMLS:C0032533 Unspecified -Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref MedDRA:10068240 Unspecified -Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref ICD10:M35.3 Unspecified -Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref UMLS:C1527406 Unspecified -Orphanet:93569 Polymyalgia rheumatica skos:exactMatch ICD10:M35.3 Unspecified -Orphanet:93569 Polymyalgia rheumatica skos:exactMatch UMLS:C1527406 Unspecified -Orphanet:93569 Polymyalgia rheumatica skos:exactMatch UMLS:C0032533 Unspecified -Orphanet:93569 Polymyalgia rheumatica skos:exactMatch MedDRA:10068240 Unspecified -Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:103910 Congenital enterocyte heparan sulfate deficiency oboInOwl:hasDbXref ICD10:P78.3 Unspecified -Orphanet:103910 Congenital enterocyte heparan sulfate deficiency skos:broadMatch ICD10:P78.3 Unspecified -Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref MedDRA:10042863 Unspecified -Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref OMIM:300813 Unspecified -Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref UMLS:C0039101 Unspecified -Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:3273 Synovial sarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:3273 Synovial sarcoma skos:exactMatch UMLS:C0039101 Unspecified -Orphanet:3273 Synovial sarcoma skos:exactMatch MedDRA:10042863 Unspecified -Orphanet:3273 Synovial sarcoma skos:exactMatch OMIM:300813 Unspecified -Orphanet:494541 Childhood-onset benign chorea with striatal involvement oboInOwl:hasDbXref OMIM:616922 Unspecified -Orphanet:494541 Childhood-onset benign chorea with striatal involvement oboInOwl:hasDbXref ICD10:G25.5 Unspecified -Orphanet:494541 Childhood-onset benign chorea with striatal involvement skos:broadMatch ICD10:G25.5 Unspecified -Orphanet:494541 Childhood-onset benign chorea with striatal involvement skos:exactMatch OMIM:616922 Unspecified -Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref MedDRA:10071434 Unspecified -Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref UMLS:C1854698 Unspecified -Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref MESH:D028921 Unspecified -Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref ICD10:E53.8 Unspecified -Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref OMIM:253260 Unspecified -Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref UMLS:C0220754 Unspecified -Orphanet:79241 Biotinidase deficiency skos:exactMatch UMLS:C0220754 Unspecified -Orphanet:79241 Biotinidase deficiency skos:exactMatch OMIM:253260 Unspecified -Orphanet:79241 Biotinidase deficiency skos:exactMatch MESH:D028921 Unspecified -Orphanet:79241 Biotinidase deficiency skos:broadMatch ICD10:E53.8 Unspecified -Orphanet:79241 Biotinidase deficiency skos:exactMatch MedDRA:10071434 Unspecified -Orphanet:79241 Biotinidase deficiency skos:exactMatch UMLS:C1854698 Unspecified -Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C0543514 Unspecified -Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 Unspecified -Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:261750 Unspecified -Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency skos:broadMatch ICD10:E74.0 Unspecified -Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency skos:exactMatch OMIM:261750 Unspecified -Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency skos:exactMatch UMLS:C0543514 Unspecified -Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 Unspecified -Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 Unspecified -Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 Unspecified -Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.9 Unspecified -Orphanet:93552 Pediatric systemic lupus erythematosus skos:broadMatch ICD10:M32.0 Unspecified -Orphanet:93552 Pediatric systemic lupus erythematosus skos:broadMatch ICD10:M32.8 Unspecified -Orphanet:93552 Pediatric systemic lupus erythematosus skos:broadMatch ICD10:M32.1 Unspecified -Orphanet:93552 Pediatric systemic lupus erythematosus skos:broadMatch ICD10:M32.9 Unspecified -Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref OMIM:253270 Unspecified -Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref ICD10:E53.8 Unspecified -Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref UMLS:C0268581 Unspecified -Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref MESH:D028922 Unspecified -Orphanet:79242 Holocarboxylase synthetase deficiency skos:exactMatch UMLS:C0268581 Unspecified -Orphanet:79242 Holocarboxylase synthetase deficiency skos:exactMatch MESH:D028922 Unspecified -Orphanet:79242 Holocarboxylase synthetase deficiency skos:broadMatch ICD10:E53.8 Unspecified -Orphanet:79242 Holocarboxylase synthetase deficiency skos:exactMatch OMIM:253270 Unspecified -Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref ICD10:D16.4 Unspecified -Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref OMIM:137575 Unspecified -Orphanet:435329 Familial ossifying fibroma skos:broadMatch ICD10:D16.4 Unspecified -Orphanet:435329 Familial ossifying fibroma skos:exactMatch OMIM:137575 Unspecified -Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref UMLS:C1842402 Unspecified -Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref ICD10:K86.1 Unspecified -Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref OMIM:608189 Unspecified -Orphanet:103918 Tropical pancreatitis skos:exactMatch OMIM:608189 Unspecified -Orphanet:103918 Tropical pancreatitis skos:broadMatch ICD10:K86.1 Unspecified -Orphanet:103918 Tropical pancreatitis skos:exactMatch UMLS:C1842402 Unspecified -Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.8 Unspecified -Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.2 Unspecified -Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.0 Unspecified -Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref OMIM:275355 Unspecified -Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C12 Unspecified -Orphanet:494547 Squamous cell carcinoma of the hypopharynx skos:narrowMatch ICD10:C13.8 Unspecified -Orphanet:494547 Squamous cell carcinoma of the hypopharynx skos:narrowMatch ICD10:C13.2 Unspecified -Orphanet:494547 Squamous cell carcinoma of the hypopharynx skos:narrowMatch ICD10:C13.0 Unspecified -Orphanet:494547 Squamous cell carcinoma of the hypopharynx skos:broadMatch OMIM:275355 Unspecified -Orphanet:494547 Squamous cell carcinoma of the hypopharynx skos:narrowMatch ICD10:C12 Unspecified -Orphanet:3283 His bundle tachycardia oboInOwl:hasDbXref ICD10:I47.1 Unspecified -Orphanet:3283 His bundle tachycardia oboInOwl:hasDbXref UMLS:C0039235 Unspecified -Orphanet:3283 His bundle tachycardia skos:exactMatch UMLS:C0039235 Unspecified -Orphanet:3283 His bundle tachycardia skos:exactMatch ICD10:I47.1 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:614916 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref ICD10:I47.2 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:615441 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref UMLS:C1631597 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:604772 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:614021 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:611938 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:615441 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch OMIM:604772 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch UMLS:C1631597 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:614916 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia skos:broadMatch ICD10:I47.2 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:611938 Unspecified -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:614021 Unspecified -Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy oboInOwl:hasDbXref ICD10:E80.2 Unspecified -Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy skos:broadMatch ICD10:E80.2 Unspecified -Orphanet:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref ICD10:C32.8 Unspecified -Orphanet:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref OMIM:275355 Unspecified -Orphanet:494550 Squamous cell carcinoma of the larynx skos:broadMatch OMIM:275355 Unspecified -Orphanet:494550 Squamous cell carcinoma of the larynx skos:broadMatch ICD10:C32.8 Unspecified -Orphanet:3282 Multifocal atrial tachycardia oboInOwl:hasDbXref UMLS:C0221158 Unspecified -Orphanet:3282 Multifocal atrial tachycardia oboInOwl:hasDbXref ICD10:I47.1 Unspecified -Orphanet:3282 Multifocal atrial tachycardia skos:exactMatch UMLS:C0221158 Unspecified -Orphanet:3282 Multifocal atrial tachycardia skos:broadMatch ICD10:I47.1 Unspecified -Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref OMIM:207600 Unspecified -Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref UMLS:C0039263 Unspecified -Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref MedDRA:10043097 Unspecified -Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref ICD10:M31.4 Unspecified -Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref MESH:D013625 Unspecified -Orphanet:3287 Takayasu arteritis skos:exactMatch MESH:D013625 Unspecified -Orphanet:3287 Takayasu arteritis skos:exactMatch ICD10:M31.4 Unspecified -Orphanet:3287 Takayasu arteritis skos:exactMatch UMLS:C0039263 Unspecified -Orphanet:3287 Takayasu arteritis skos:exactMatch OMIM:207600 Unspecified -Orphanet:3287 Takayasu arteritis skos:exactMatch MedDRA:10043097 Unspecified -Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:183849 Unspecified -Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref MESH:C535783 Unspecified -Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C1866728 Unspecified -Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch UMLS:C1866728 Unspecified -Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch OMIM:183849 Unspecified -Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch MESH:C535783 Unspecified -Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref UMLS:C0268187 Unspecified -Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref ICD10:E74.3 Unspecified -Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref OMIM:612119 Unspecified -Orphanet:103909 Trehalase deficiency skos:broadMatch ICD10:E74.3 Unspecified -Orphanet:103909 Trehalase deficiency skos:exactMatch OMIM:612119 Unspecified -Orphanet:103909 Trehalase deficiency skos:exactMatch UMLS:C0268187 Unspecified -Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency oboInOwl:hasDbXref ICD10:E74.3 Unspecified -Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency skos:broadMatch ICD10:E74.3 Unspecified -Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref ICD10:P78.3 Unspecified -Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref OMIM:270420 Unspecified -Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref OMIM:616868 Unspecified -Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref UMLS:C0267663 Unspecified -Orphanet:103908 Congenital sodium diarrhea skos:exactMatch UMLS:C0267663 Unspecified -Orphanet:103908 Congenital sodium diarrhea skos:narrowMatch OMIM:616868 Unspecified -Orphanet:103908 Congenital sodium diarrhea skos:narrowMatch OMIM:270420 Unspecified -Orphanet:103908 Congenital sodium diarrhea skos:broadMatch ICD10:P78.3 Unspecified -Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref OMIM:607208 Unspecified -Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref OMIM:615744 Unspecified -Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref OMIM:612164 Unspecified -Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref UMLS:C0751122 Unspecified -Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:33069 Dravet syndrome skos:narrowMatch OMIM:615744 Unspecified -Orphanet:33069 Dravet syndrome skos:exactMatch UMLS:C0751122 Unspecified -Orphanet:33069 Dravet syndrome skos:narrowMatch OMIM:612164 Unspecified -Orphanet:33069 Dravet syndrome skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:33069 Dravet syndrome skos:exactMatch OMIM:607208 Unspecified -Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref MESH:C537564 Unspecified -Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref OMIM:156400 Unspecified -Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref ICD10:Q78.5 Unspecified -Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref UMLS:C0265295 Unspecified -Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type skos:exactMatch UMLS:C0265295 Unspecified -Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type skos:broadMatch ICD10:Q78.5 Unspecified -Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type skos:exactMatch MESH:C537564 Unspecified -Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type skos:exactMatch OMIM:156400 Unspecified -Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref UMLS:C1857338 Unspecified -Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref OMIM:221400 Unspecified -Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.8 Unspecified -Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch OMIM:221400 Unspecified -Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch UMLS:C1857338 Unspecified -Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome skos:broadMatch ICD10:G60.8 Unspecified -Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref MESH:D018323 Unspecified -Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref UMLS:C0206732 Unspecified -Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 Unspecified -Orphanet:157791 Epithelioid hemangioendothelioma skos:broadMatch ICD10:D48.1 Unspecified -Orphanet:157791 Epithelioid hemangioendothelioma skos:exactMatch MESH:D018323 Unspecified -Orphanet:157791 Epithelioid hemangioendothelioma skos:exactMatch UMLS:C0206732 Unspecified -Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref OMIM:615025 Unspecified -Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q skos:exactMatch OMIM:615025 Unspecified -Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement oboInOwl:hasDbXref OMIM:616921 Unspecified -Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch OMIM:616921 Unspecified -Orphanet:157798 Serrated polyposis syndrome oboInOwl:hasDbXref OMIM:617108 Unspecified -Orphanet:157798 Serrated polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 Unspecified -Orphanet:157798 Serrated polyposis syndrome skos:broadMatch ICD10:D12.6 Unspecified -Orphanet:157798 Serrated polyposis syndrome skos:exactMatch OMIM:617108 Unspecified -Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref OMIM:616687 Unspecified -Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y skos:exactMatch OMIM:616687 Unspecified -Orphanet:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref OMIM:601228 Unspecified -Orphanet:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 Unspecified -Orphanet:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref OMIM:610069 Unspecified -Orphanet:157794 Hereditary mixed polyposis syndrome skos:narrowMatch OMIM:610069 Unspecified -Orphanet:157794 Hereditary mixed polyposis syndrome skos:broadMatch ICD10:D12.6 Unspecified -Orphanet:157794 Hereditary mixed polyposis syndrome skos:exactMatch OMIM:601228 Unspecified -Orphanet:399 Huntington disease oboInOwl:hasDbXref MESH:D006816 Unspecified -Orphanet:399 Huntington disease oboInOwl:hasDbXref ICD10:G10 Unspecified -Orphanet:399 Huntington disease oboInOwl:hasDbXref OMIM:143100 Unspecified -Orphanet:399 Huntington disease oboInOwl:hasDbXref UMLS:C0020179 Unspecified -Orphanet:399 Huntington disease oboInOwl:hasDbXref MedDRA:10070668 Unspecified -Orphanet:399 Huntington disease skos:exactMatch UMLS:C0020179 Unspecified -Orphanet:399 Huntington disease skos:exactMatch MedDRA:10070668 Unspecified -Orphanet:399 Huntington disease skos:exactMatch ICD10:G10 Unspecified -Orphanet:399 Huntington disease skos:exactMatch OMIM:143100 Unspecified -Orphanet:399 Huntington disease skos:exactMatch MESH:D006816 Unspecified -Orphanet:103920 Undetermined colitis oboInOwl:hasDbXref ICD10:K52.3 Unspecified -Orphanet:103920 Undetermined colitis skos:exactMatch ICD10:K52.3 Unspecified -Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref OMIM:300221 Unspecified -Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.7 Unspecified -Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.9 Unspecified -Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.1 Unspecified -Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.3 Unspecified -Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.2 Unspecified -Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.4 Unspecified -Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.0 Unspecified -Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref OMIM:236000 Unspecified -Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref OMIM:400021 Unspecified -Orphanet:391 Classic Hodgkin lymphoma skos:narrowMatch OMIM:300221 Unspecified -Orphanet:391 Classic Hodgkin lymphoma skos:narrowMatch ICD10:C81.9 Unspecified -Orphanet:391 Classic Hodgkin lymphoma skos:narrowMatch ICD10:C81.3 Unspecified -Orphanet:391 Classic Hodgkin lymphoma skos:narrowMatch ICD10:C81.7 Unspecified -Orphanet:391 Classic Hodgkin lymphoma skos:narrowMatch ICD10:C81.1 Unspecified -Orphanet:391 Classic Hodgkin lymphoma skos:exactMatch OMIM:236000 Unspecified -Orphanet:391 Classic Hodgkin lymphoma skos:narrowMatch OMIM:400021 Unspecified -Orphanet:391 Classic Hodgkin lymphoma skos:narrowMatch ICD10:C81.4 Unspecified -Orphanet:391 Classic Hodgkin lymphoma skos:narrowMatch ICD10:C81.0 Unspecified -Orphanet:391 Classic Hodgkin lymphoma skos:narrowMatch ICD10:C81.2 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref MESH:D006660 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.4 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.0 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.2 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref MedDRA:10021808 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref UMLS:C0153261 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.3 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.5 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.9 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.1 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref UMLS:C0019655 Unspecified -Orphanet:390 Histoplasmosis oboInOwl:hasDbXref MedDRA:10020141 Unspecified -Orphanet:390 Histoplasmosis skos:exactMatch MedDRA:10021808 Unspecified -Orphanet:390 Histoplasmosis skos:exactMatch MESH:D006660 Unspecified -Orphanet:390 Histoplasmosis skos:narrowMatch ICD10:B39.3 Unspecified -Orphanet:390 Histoplasmosis skos:narrowMatch ICD10:B39.1 Unspecified -Orphanet:390 Histoplasmosis skos:narrowMatch ICD10:B39.5 Unspecified -Orphanet:390 Histoplasmosis skos:narrowMatch ICD10:B39.9 Unspecified -Orphanet:390 Histoplasmosis skos:exactMatch UMLS:C0019655 Unspecified -Orphanet:390 Histoplasmosis skos:exactMatch UMLS:C0153261 Unspecified -Orphanet:390 Histoplasmosis skos:narrowMatch ICD10:B39.0 Unspecified -Orphanet:390 Histoplasmosis skos:narrowMatch ICD10:B39.4 Unspecified -Orphanet:390 Histoplasmosis skos:narrowMatch ICD10:B39.2 Unspecified -Orphanet:390 Histoplasmosis skos:exactMatch MedDRA:10020141 Unspecified -Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref OMIM:236250 Unspecified -Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref ICD10:E72.1 Unspecified -Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref UMLS:C1856061 Unspecified -Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch UMLS:C1856061 Unspecified -Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:broadMatch ICD10:E72.1 Unspecified -Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch OMIM:236250 Unspecified -Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref OMIM:300661 Unspecified -Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref UMLS:C1970827 Unspecified -Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 Unspecified -Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity skos:broadMatch ICD10:E79.8 Unspecified -Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch UMLS:C1970827 Unspecified -Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity skos:broadMatch OMIM:300661 Unspecified -Orphanet:394 Classic homocystinuria oboInOwl:hasDbXref OMIM:236200 Unspecified -Orphanet:394 Classic homocystinuria oboInOwl:hasDbXref UMLS:C0751202 Unspecified -Orphanet:394 Classic homocystinuria oboInOwl:hasDbXref ICD10:E72.1 Unspecified -Orphanet:394 Classic homocystinuria oboInOwl:hasDbXref MedDRA:10071093 Unspecified -Orphanet:394 Classic homocystinuria skos:exactMatch MedDRA:10071093 Unspecified -Orphanet:394 Classic homocystinuria skos:broadMatch ICD10:E72.1 Unspecified -Orphanet:394 Classic homocystinuria skos:exactMatch OMIM:236200 Unspecified -Orphanet:394 Classic homocystinuria skos:exactMatch UMLS:C0751202 Unspecified -Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref UMLS:C0039483 Unspecified -Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref OMIM:187360 Unspecified -Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref ICD10:M31.6 Unspecified -Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref MedDRA:10018250 Unspecified -Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref MedDRA:10043207 Unspecified -Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref MESH:D013700 Unspecified -Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref UMLS:C1956391 Unspecified -Orphanet:397 Giant cell arteritis skos:exactMatch UMLS:C1956391 Unspecified -Orphanet:397 Giant cell arteritis skos:exactMatch MedDRA:10018250 Unspecified -Orphanet:397 Giant cell arteritis skos:exactMatch MedDRA:10043207 Unspecified -Orphanet:397 Giant cell arteritis skos:exactMatch MESH:D013700 Unspecified -Orphanet:397 Giant cell arteritis skos:exactMatch UMLS:C0039483 Unspecified -Orphanet:397 Giant cell arteritis skos:broadMatch ICD10:M31.6 Unspecified -Orphanet:397 Giant cell arteritis skos:exactMatch OMIM:187360 Unspecified -Orphanet:396 Chronic hiccup oboInOwl:hasDbXref ICD10:G25.3 Unspecified -Orphanet:396 Chronic hiccup skos:broadMatch ICD10:G25.3 Unspecified -Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref ICD10:P78.3 Unspecified -Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref OMIM:618183 Unspecified -Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref OMIM:615863 Unspecified -Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy skos:exactMatch OMIM:615863 Unspecified -Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy skos:exactMatch OMIM:618183 Unspecified -Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy skos:broadMatch ICD10:P78.3 Unspecified -Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231680 Unspecified -Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C2931346 Unspecified -Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268596 Unspecified -Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0268596 Unspecified -Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C2931346 Unspecified -Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231680 Unspecified -Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref MESH:D011553 Unspecified -Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref MedDRA:10037138 Unspecified -Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref UMLS:C0033822 Unspecified -Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref ICD10:C78.6 Unspecified -Orphanet:26790 Pseudomyxoma peritonei skos:broadMatch ICD10:C78.6 Unspecified -Orphanet:26790 Pseudomyxoma peritonei skos:exactMatch MedDRA:10037138 Unspecified -Orphanet:26790 Pseudomyxoma peritonei skos:exactMatch MESH:D011553 Unspecified -Orphanet:26790 Pseudomyxoma peritonei skos:exactMatch UMLS:C0033822 Unspecified -Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C3887523 Unspecified -Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201475 Unspecified -Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201475 Unspecified -Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C3887523 Unspecified -Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C537596 Unspecified -Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201470 Unspecified -Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201470 Unspecified -Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency skos:exactMatch MESH:C537596 Unspecified -Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref UMLS:C2931542 Unspecified -Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref ICD10:G90.8 Unspecified -Orphanet:29822 Spontaneous periodic hypothermia skos:broadMatch ICD10:G90.8 Unspecified -Orphanet:29822 Spontaneous periodic hypothermia skos:exactMatch UMLS:C2931542 Unspecified -Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref UMLS:C0700367 Unspecified -Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref MedDRA:10014966 Unspecified -Orphanet:251880 Ependymoblastoma skos:exactMatch MedDRA:10014966 Unspecified -Orphanet:251880 Ependymoblastoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:251880 Ependymoblastoma skos:exactMatch UMLS:C0700367 Unspecified -Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 Unspecified -Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref UMLS:C0334596 Unspecified -Orphanet:251883 Medulloepithelioma of the central nervous system skos:exactMatch UMLS:C0334596 Unspecified -Orphanet:251883 Medulloepithelioma of the central nervous system skos:broadMatch ICD10:C72.9 Unspecified -Orphanet:329284 Beta-propeller protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 Unspecified -Orphanet:329284 Beta-propeller protein-associated neurodegeneration oboInOwl:hasDbXref OMIM:300894 Unspecified -Orphanet:329284 Beta-propeller protein-associated neurodegeneration skos:exactMatch OMIM:300894 Unspecified -Orphanet:329284 Beta-propeller protein-associated neurodegeneration skos:broadMatch ICD10:G23.0 Unspecified -Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome oboInOwl:hasDbXref ICD10:I49.8 Unspecified -Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome oboInOwl:hasDbXref OMIM:617173 Unspecified -Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome skos:broadMatch ICD10:I49.8 Unspecified -Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch OMIM:617173 Unspecified -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref OMIM:616022 Unspecified -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref ICD10:D70 Unspecified -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:broadMatch ICD10:D70 Unspecified -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch OMIM:616022 Unspecified -Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency oboInOwl:hasDbXref OMIM:618131 Unspecified -Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency oboInOwl:hasDbXref ICD10:D82.3 Unspecified -Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch OMIM:618131 Unspecified -Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency skos:broadMatch ICD10:D82.3 Unspecified -Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref OMIM:615834 Unspecified -Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref ICD10:F84.1 Unspecified -Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency skos:broadMatch ICD10:F84.1 Unspecified -Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency skos:exactMatch OMIM:615834 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:614053 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:618683 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:616045 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:604273 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:615228 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:618120 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency skos:narrowMatch OMIM:615228 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency skos:narrowMatch OMIM:604273 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency skos:narrowMatch OMIM:618683 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency skos:narrowMatch OMIM:618120 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:254913 Isolated ATP synthase deficiency skos:narrowMatch OMIM:614053 Unspecified -Orphanet:83317 Scrub typhus oboInOwl:hasDbXref UMLS:C0036472 Unspecified -Orphanet:83317 Scrub typhus oboInOwl:hasDbXref MedDRA:10039766 Unspecified -Orphanet:83317 Scrub typhus oboInOwl:hasDbXref ICD10:A75.3 Unspecified -Orphanet:83317 Scrub typhus oboInOwl:hasDbXref MESH:D012612 Unspecified -Orphanet:83317 Scrub typhus skos:exactMatch MESH:D012612 Unspecified -Orphanet:83317 Scrub typhus skos:exactMatch ICD10:A75.3 Unspecified -Orphanet:83317 Scrub typhus skos:exactMatch MedDRA:10039766 Unspecified -Orphanet:83317 Scrub typhus skos:exactMatch UMLS:C0036472 Unspecified -Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref UMLS:C0006060 Unspecified -Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref MESH:D001907 Unspecified -Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref MedDRA:10006045 Unspecified -Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref ICD10:A77.1 Unspecified -Orphanet:83313 Boutonneuse fever skos:exactMatch MedDRA:10006045 Unspecified -Orphanet:83313 Boutonneuse fever skos:exactMatch MESH:D001907 Unspecified -Orphanet:83313 Boutonneuse fever skos:exactMatch UMLS:C0006060 Unspecified -Orphanet:83313 Boutonneuse fever skos:broadMatch ICD10:A77.1 Unspecified -Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref MedDRA:10014979 Unspecified -Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 Unspecified -Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref MESH:D014438 Unspecified -Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref UMLS:C0041473 Unspecified -Orphanet:83314 Epidemic typhus skos:exactMatch UMLS:C0041473 Unspecified -Orphanet:83314 Epidemic typhus skos:exactMatch MESH:D014438 Unspecified -Orphanet:83314 Epidemic typhus skos:exactMatch ICD10:A75.0 Unspecified -Orphanet:83314 Epidemic typhus skos:exactMatch MedDRA:10014979 Unspecified -Orphanet:83315 Murine typhus oboInOwl:hasDbXref MedDRA:10028282 Unspecified -Orphanet:83315 Murine typhus oboInOwl:hasDbXref ICD10:A75.2 Unspecified -Orphanet:83315 Murine typhus skos:exactMatch ICD10:A75.2 Unspecified -Orphanet:83315 Murine typhus skos:exactMatch MedDRA:10028282 Unspecified -Orphanet:83316 Pseudotyphus of California oboInOwl:hasDbXref ICD10:A79.8 Unspecified -Orphanet:83316 Pseudotyphus of California skos:broadMatch ICD10:A79.8 Unspecified -Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref MESH:D016463 Unspecified -Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref UMLS:C0085077 Unspecified -Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref MedDRA:10000748 Unspecified -Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref ICD10:L98.2 Unspecified -Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref OMIM:608068 Unspecified -Orphanet:3243 Sweet syndrome skos:exactMatch OMIM:608068 Unspecified -Orphanet:3243 Sweet syndrome skos:exactMatch ICD10:L98.2 Unspecified -Orphanet:3243 Sweet syndrome skos:exactMatch UMLS:C0085077 Unspecified -Orphanet:3243 Sweet syndrome skos:exactMatch MESH:D016463 Unspecified -Orphanet:3243 Sweet syndrome skos:exactMatch MedDRA:10000748 Unspecified -Orphanet:79299 Hyperinsulinism due to glucokinase deficiency oboInOwl:hasDbXref OMIM:602485 Unspecified -Orphanet:79299 Hyperinsulinism due to glucokinase deficiency oboInOwl:hasDbXref ICD10:E16.1 Unspecified -Orphanet:79299 Hyperinsulinism due to glucokinase deficiency skos:exactMatch OMIM:602485 Unspecified -Orphanet:79299 Hyperinsulinism due to glucokinase deficiency skos:broadMatch ICD10:E16.1 Unspecified -Orphanet:48104 Pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 Unspecified -Orphanet:48104 Pyoderma gangrenosum oboInOwl:hasDbXref MedDRA:10037635 Unspecified -Orphanet:48104 Pyoderma gangrenosum oboInOwl:hasDbXref UMLS:C0085652 Unspecified -Orphanet:48104 Pyoderma gangrenosum oboInOwl:hasDbXref MESH:D017511 Unspecified -Orphanet:48104 Pyoderma gangrenosum skos:exactMatch UMLS:C0085652 Unspecified -Orphanet:48104 Pyoderma gangrenosum skos:exactMatch MESH:D017511 Unspecified -Orphanet:48104 Pyoderma gangrenosum skos:exactMatch MedDRA:10037635 Unspecified -Orphanet:48104 Pyoderma gangrenosum skos:exactMatch ICD10:L88 Unspecified -Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref UMLS:C0035793 Unspecified -Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref MedDRA:10039207 Unspecified -Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref MESH:D012373 Unspecified -Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref ICD10:A77.0 Unspecified -Orphanet:83311 Rocky Mountain spotted fever skos:exactMatch ICD10:A77.0 Unspecified -Orphanet:83311 Rocky Mountain spotted fever skos:exactMatch UMLS:C0035793 Unspecified -Orphanet:83311 Rocky Mountain spotted fever skos:exactMatch MESH:D012373 Unspecified -Orphanet:83311 Rocky Mountain spotted fever skos:exactMatch MedDRA:10039207 Unspecified -Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref ICD10:A79.1 Unspecified -Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref MedDRA:10039137 Unspecified -Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref UMLS:C0035597 Unspecified -Orphanet:83312 Rickettsialpox skos:exactMatch ICD10:A79.1 Unspecified -Orphanet:83312 Rickettsialpox skos:exactMatch UMLS:C0035597 Unspecified -Orphanet:83312 Rickettsialpox skos:exactMatch MedDRA:10039137 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619048 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619046 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619055 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619053 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619051 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619059 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619064 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619062 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619060 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:220110 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref UMLS:C0268237 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619054 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619052 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619058 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619063 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619061 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619355 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619355 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619052 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619054 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619058 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619061 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619063 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:220110 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619046 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619048 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:exactMatch UMLS:C0268237 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619051 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619053 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619055 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619059 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619060 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619062 Unspecified -Orphanet:254905 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619064 Unspecified -Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C0206718 Unspecified -Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref MedDRA:10017708 Unspecified -Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref ICD10:C71.9 Unspecified -Orphanet:251877 Ganglioneuroblastoma skos:broadMatch ICD10:C71.9 Unspecified -Orphanet:251877 Ganglioneuroblastoma skos:exactMatch MedDRA:10017708 Unspecified -Orphanet:251877 Ganglioneuroblastoma skos:exactMatch UMLS:C0206718 Unspecified -Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:616881 Unspecified -Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch OMIM:616881 Unspecified -Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref OMIM:124000 Unspecified -Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome skos:broadMatch OMIM:124000 Unspecified -Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref OMIM:613559 Unspecified -Orphanet:254930 Combined oxidative phosphorylation defect type 7 skos:exactMatch OMIM:613559 Unspecified -Orphanet:254930 Combined oxidative phosphorylation defect type 7 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:420259 Secondary pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 Unspecified -Orphanet:420259 Secondary pulmonary alveolar proteinosis skos:broadMatch ICD10:J84.0 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:608030 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:615911 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:619133 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:616437 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:616439 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:105550 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:619141 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:613954 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref UMLS:C3888102 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref ICD10:G31.0 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:612069 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease skos:narrowMatch ICD10:G31.0 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:612069 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:619141 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:613954 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:105550 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease skos:exactMatch UMLS:C3888102 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:619133 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:615911 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:616439 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:616437 Unspecified -Orphanet:275872 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:608030 Unspecified -Orphanet:356961 SLC35A2-CDG oboInOwl:hasDbXref OMIM:300896 Unspecified -Orphanet:356961 SLC35A2-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:356961 SLC35A2-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:356961 SLC35A2-CDG skos:exactMatch OMIM:300896 Unspecified -Orphanet:99718 Leber plus disease oboInOwl:hasDbXref OMIM:165200 Unspecified -Orphanet:99718 Leber plus disease oboInOwl:hasDbXref ICD10:H47.2 Unspecified -Orphanet:99718 Leber plus disease oboInOwl:hasDbXref OMIM:500001 Unspecified -Orphanet:99718 Leber plus disease skos:narrowMatch OMIM:500001 Unspecified -Orphanet:99718 Leber plus disease skos:narrowMatch OMIM:165200 Unspecified -Orphanet:99718 Leber plus disease skos:broadMatch ICD10:H47.2 Unspecified -Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref OMIM:616479 Unspecified -Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:narrowMatch OMIM:616479 Unspecified -Orphanet:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref OMIM:615338 Unspecified -Orphanet:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:352596 Progressive myoclonic epilepsy with dystonia skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:352596 Progressive myoclonic epilepsy with dystonia skos:broadMatch OMIM:615338 Unspecified -Orphanet:306692 Cyanide-induced parkinsonism-dystonia oboInOwl:hasDbXref ICD10:G21.2 Unspecified -Orphanet:306692 Cyanide-induced parkinsonism-dystonia skos:broadMatch ICD10:G21.2 Unspecified -Orphanet:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 Unspecified -Orphanet:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 Unspecified -Orphanet:282166 Inherited Creutzfeldt-Jakob disease skos:exactMatch OMIM:123400 Unspecified -Orphanet:282166 Inherited Creutzfeldt-Jakob disease skos:broadMatch ICD10:A81.0 Unspecified -Orphanet:570470 Ricin poisoning oboInOwl:hasDbXref ICD10:T62.2 Unspecified -Orphanet:570470 Ricin poisoning skos:broadMatch ICD10:T62.2 Unspecified -Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis oboInOwl:hasDbXref ICD10:G40.0 Unspecified -Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis skos:broadMatch ICD10:G40.0 Unspecified -Orphanet:329324 Inverse Klippel-Trénaunay syndrome oboInOwl:hasDbXref ICD10:Q87.2 Unspecified -Orphanet:329324 Inverse Klippel-Trénaunay syndrome skos:broadMatch ICD10:Q87.2 Unspecified -Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref OMIM:610498 Unspecified -Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref UMLS:C1864843 Unspecified -Orphanet:254920 Combined oxidative phosphorylation defect type 2 skos:exactMatch UMLS:C1864843 Unspecified -Orphanet:254920 Combined oxidative phosphorylation defect type 2 skos:exactMatch OMIM:610498 Unspecified -Orphanet:254920 Combined oxidative phosphorylation defect type 2 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref OMIM:260500 Unspecified -Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref ICD10:C71.7 Unspecified -Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref MedDRA:10067478 Unspecified -Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref UMLS:C0431109 Unspecified -Orphanet:251899 Choroid plexus carcinoma skos:exactMatch MedDRA:10067478 Unspecified -Orphanet:251899 Choroid plexus carcinoma skos:exactMatch UMLS:C0431109 Unspecified -Orphanet:251899 Choroid plexus carcinoma skos:broadMatch ICD10:C71.7 Unspecified -Orphanet:251899 Choroid plexus carcinoma skos:broadMatch OMIM:260500 Unspecified -Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref OMIM:610678 Unspecified -Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref UMLS:C1857682 Unspecified -Orphanet:254925 Combined oxidative phosphorylation defect type 4 skos:exactMatch OMIM:610678 Unspecified -Orphanet:254925 Combined oxidative phosphorylation defect type 4 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:254925 Combined oxidative phosphorylation defect type 4 skos:exactMatch UMLS:C1857682 Unspecified -Orphanet:401953 Episodic ataxia with slurred speech oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:401953 Episodic ataxia with slurred speech oboInOwl:hasDbXref OMIM:616055 Unspecified -Orphanet:401953 Episodic ataxia with slurred speech skos:exactMatch OMIM:616055 Unspecified -Orphanet:401953 Episodic ataxia with slurred speech skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref OMIM:615485 Unspecified -Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref ICD10:Q87.0 Unspecified -Orphanet:352577 Bainbridge-Ropers syndrome skos:broadMatch ICD10:Q87.0 Unspecified -Orphanet:352577 Bainbridge-Ropers syndrome skos:exactMatch OMIM:615485 Unspecified -Orphanet:399103 Distal nebulin myopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:399103 Distal nebulin myopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency oboInOwl:hasDbXref OMIM:614923 Unspecified -Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency skos:exactMatch OMIM:614923 Unspecified -Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref MESH:D018335 Unspecified -Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref OMIM:609322 Unspecified -Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref UMLS:C0206743 Unspecified -Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref OMIM:613325 Unspecified -Orphanet:69077 Rhabdoid tumor skos:exactMatch UMLS:C0206743 Unspecified -Orphanet:69077 Rhabdoid tumor skos:exactMatch MESH:D018335 Unspecified -Orphanet:69077 Rhabdoid tumor skos:narrowMatch OMIM:609322 Unspecified -Orphanet:69077 Rhabdoid tumor skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:69077 Rhabdoid tumor skos:narrowMatch OMIM:613325 Unspecified -Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref UMLS:C3245525 Unspecified -Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref UMLS:C0017980 Unspecified -Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref OMIM:233100 Unspecified -Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref ICD10:E74.8 Unspecified -Orphanet:69076 Familial renal glucosuria skos:broadMatch ICD10:E74.8 Unspecified -Orphanet:69076 Familial renal glucosuria skos:exactMatch UMLS:C0017980 Unspecified -Orphanet:69076 Familial renal glucosuria skos:exactMatch OMIM:233100 Unspecified -Orphanet:69076 Familial renal glucosuria skos:exactMatch UMLS:C3245525 Unspecified -Orphanet:69078 Liposarcoma oboInOwl:hasDbXref MedDRA:10024627 Unspecified -Orphanet:69078 Liposarcoma oboInOwl:hasDbXref MESH:D008080 Unspecified -Orphanet:69078 Liposarcoma oboInOwl:hasDbXref UMLS:C0023827 Unspecified -Orphanet:69078 Liposarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:69078 Liposarcoma oboInOwl:hasDbXref OMIM:613488 Unspecified -Orphanet:69078 Liposarcoma skos:narrowMatch OMIM:613488 Unspecified -Orphanet:69078 Liposarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:69078 Liposarcoma skos:exactMatch UMLS:C0023827 Unspecified -Orphanet:69078 Liposarcoma skos:exactMatch MESH:D008080 Unspecified -Orphanet:69078 Liposarcoma skos:exactMatch MedDRA:10024627 Unspecified -Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons oboInOwl:hasDbXref OMIM:610100 Unspecified -Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons skos:exactMatch OMIM:610100 Unspecified -Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation oboInOwl:hasDbXref ICD10:Q04.8 Unspecified -Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:broadMatch ICD10:Q04.8 Unspecified -Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref UMLS:C0154731 Unspecified -Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref MedDRA:10018391 Unspecified -Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref ICD10:G52.1 Unspecified -Orphanet:221098 Glossopharyngeal neuralgia skos:exactMatch MedDRA:10018391 Unspecified -Orphanet:221098 Glossopharyngeal neuralgia skos:broadMatch ICD10:G52.1 Unspecified -Orphanet:221098 Glossopharyngeal neuralgia skos:exactMatch UMLS:C0154731 Unspecified -Orphanet:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref OMIM:605021 Unspecified -Orphanet:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:352582 Familial infantile myoclonic epilepsy skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:352582 Familial infantile myoclonic epilepsy skos:exactMatch OMIM:605021 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref ICD10:G31.0 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:619132 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:600274 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:172700 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:616437 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:600795 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia skos:broadMatch OMIM:172700 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:619132 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia skos:broadMatch OMIM:600274 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia skos:broadMatch ICD10:G31.0 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:600795 Unspecified -Orphanet:275864 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:616437 Unspecified -Orphanet:329341 Limbic encephalitis with DPP6 antibodies oboInOwl:hasDbXref ICD10:G04.8 Unspecified -Orphanet:329341 Limbic encephalitis with DPP6 antibodies skos:broadMatch ICD10:G04.8 Unspecified -Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization oboInOwl:hasDbXref ICD10:P96.0 Unspecified -Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization skos:broadMatch ICD10:P96.0 Unspecified -Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency oboInOwl:hasDbXref UMLS:C1855100 Unspecified -Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency oboInOwl:hasDbXref OMIM:251120 Unspecified -Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch OMIM:251120 Unspecified -Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch UMLS:C1855100 Unspecified -Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref UMLS:C0040997 Unspecified -Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref MedDRA:10044652 Unspecified -Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref ICD10:G50.0 Unspecified -Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref MESH:D014277 Unspecified -Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref OMIM:190400 Unspecified -Orphanet:221091 Trigeminal neuralgia skos:exactMatch MedDRA:10044652 Unspecified -Orphanet:221091 Trigeminal neuralgia skos:exactMatch UMLS:C0040997 Unspecified -Orphanet:221091 Trigeminal neuralgia skos:exactMatch ICD10:G50.0 Unspecified -Orphanet:221091 Trigeminal neuralgia skos:exactMatch OMIM:190400 Unspecified -Orphanet:221091 Trigeminal neuralgia skos:exactMatch MESH:D014277 Unspecified -Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A35 Unspecified -Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A33 Unspecified -Orphanet:3299 Tetanus oboInOwl:hasDbXref MESH:D013742 Unspecified -Orphanet:3299 Tetanus oboInOwl:hasDbXref MedDRA:10043376 Unspecified -Orphanet:3299 Tetanus oboInOwl:hasDbXref UMLS:C0039614 Unspecified -Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A34 Unspecified -Orphanet:3299 Tetanus skos:exactMatch UMLS:C0039614 Unspecified -Orphanet:3299 Tetanus skos:exactMatch MedDRA:10043376 Unspecified -Orphanet:3299 Tetanus skos:narrowMatch ICD10:A34 Unspecified -Orphanet:3299 Tetanus skos:exactMatch MESH:D013742 Unspecified -Orphanet:3299 Tetanus skos:narrowMatch ICD10:A35 Unspecified -Orphanet:3299 Tetanus skos:narrowMatch ICD10:A33 Unspecified -Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref MedDRA:10062920 Unspecified -Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref UMLS:C2745959 Unspecified -Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref OMIM:183900 Unspecified -Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref MESH:C535788 Unspecified -Orphanet:94068 Spondyloepiphyseal dysplasia congenita skos:exactMatch MedDRA:10062920 Unspecified -Orphanet:94068 Spondyloepiphyseal dysplasia congenita skos:exactMatch OMIM:183900 Unspecified -Orphanet:94068 Spondyloepiphyseal dysplasia congenita skos:exactMatch UMLS:C2745959 Unspecified -Orphanet:94068 Spondyloepiphyseal dysplasia congenita skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:94068 Spondyloepiphyseal dysplasia congenita skos:exactMatch MESH:C535788 Unspecified -Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref ICD10:G51.3 Unspecified -Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref OMIM:141405 Unspecified -Orphanet:221083 Hemifacial spasm skos:exactMatch OMIM:141405 Unspecified -Orphanet:221083 Hemifacial spasm skos:exactMatch ICD10:G51.3 Unspecified -Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref ICD10:C06.9 Unspecified -Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref OMIM:275355 Unspecified -Orphanet:502363 Squamous cell carcinoma of the oral cavity skos:broadMatch ICD10:C06.9 Unspecified -Orphanet:502363 Squamous cell carcinoma of the oral cavity skos:broadMatch OMIM:275355 Unspecified -Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref OMIM:275355 Unspecified -Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref ICD10:C00.1 Unspecified -Orphanet:502366 Squamous cell carcinoma of the lip skos:broadMatch ICD10:C00.1 Unspecified -Orphanet:502366 Squamous cell carcinoma of the lip skos:broadMatch OMIM:275355 Unspecified -Orphanet:99745 Typhoid oboInOwl:hasDbXref UMLS:C0041466 Unspecified -Orphanet:99745 Typhoid oboInOwl:hasDbXref ICD10:A01.0 Unspecified -Orphanet:99745 Typhoid skos:exactMatch ICD10:A01.0 Unspecified -Orphanet:99745 Typhoid skos:exactMatch UMLS:C0041466 Unspecified -Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency oboInOwl:hasDbXref OMIM:615395 Unspecified -Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:exactMatch OMIM:615395 Unspecified -Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome oboInOwl:hasDbXref ICD10:G20 Unspecified -Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome skos:broadMatch ICD10:G20 Unspecified -Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves oboInOwl:hasDbXref ICD10:G52.7 Unspecified -Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves skos:broadMatch ICD10:G52.7 Unspecified -Orphanet:99748 Pontiac fever oboInOwl:hasDbXref ICD10:A48.2 Unspecified -Orphanet:99748 Pontiac fever oboInOwl:hasDbXref MedDRA:10054161 Unspecified -Orphanet:99748 Pontiac fever oboInOwl:hasDbXref UMLS:C0343528 Unspecified -Orphanet:99748 Pontiac fever skos:exactMatch ICD10:A48.2 Unspecified -Orphanet:99748 Pontiac fever skos:exactMatch UMLS:C0343528 Unspecified -Orphanet:99748 Pontiac fever skos:exactMatch MedDRA:10054161 Unspecified -Orphanet:99749 Kostmann syndrome oboInOwl:hasDbXref OMIM:610738 Unspecified -Orphanet:99749 Kostmann syndrome oboInOwl:hasDbXref ICD10:D70 Unspecified -Orphanet:99749 Kostmann syndrome skos:broadMatch ICD10:D70 Unspecified -Orphanet:99749 Kostmann syndrome skos:exactMatch OMIM:610738 Unspecified -Orphanet:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref ICD10:G37.1 Unspecified -Orphanet:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref MESH:D054319 Unspecified -Orphanet:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref UMLS:C0238265 Unspecified -Orphanet:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref MedDRA:10026828 Unspecified -Orphanet:221074 Marchiafava-Bignami disease skos:exactMatch UMLS:C0238265 Unspecified -Orphanet:221074 Marchiafava-Bignami disease skos:exactMatch MedDRA:10026828 Unspecified -Orphanet:221074 Marchiafava-Bignami disease skos:exactMatch MESH:D054319 Unspecified -Orphanet:221074 Marchiafava-Bignami disease skos:exactMatch ICD10:G37.1 Unspecified -Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref ICD10:I77.8 Unspecified -Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref OMIM:211800 Unspecified -Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome skos:exactMatch OMIM:211800 Unspecified -Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome skos:broadMatch ICD10:I77.8 Unspecified -Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref OMIM:300291 Unspecified -Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref UMLS:C1845919 Unspecified -Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q78.2 Unspecified -Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch UMLS:C1845919 Unspecified -Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:broadMatch ICD10:Q78.2 Unspecified -Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch OMIM:300291 Unspecified -Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref UMLS:C0343111 Unspecified -Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref OMIM:161000 Unspecified -Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref ICD10:Q82.4 Unspecified -Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch OMIM:161000 Unspecified -Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome skos:broadMatch ICD10:Q82.4 Unspecified -Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch UMLS:C0343111 Unspecified -Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref OMIM:604218 Unspecified -Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref MESH:C536841 Unspecified -Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref UMLS:C1858680 Unspecified -Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch UMLS:C1858680 Unspecified -Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch MESH:C536841 Unspecified -Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch OMIM:604218 Unspecified -Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome oboInOwl:hasDbXref OMIM:610644 Unspecified -Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome oboInOwl:hasDbXref ICD10:Q56.0 Unspecified -Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch OMIM:610644 Unspecified -Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:broadMatch ICD10:Q56.0 Unspecified -Orphanet:401996 Karyomegalic interstitial nephritis oboInOwl:hasDbXref ICD10:N11.8 Unspecified -Orphanet:401996 Karyomegalic interstitial nephritis oboInOwl:hasDbXref OMIM:614817 Unspecified -Orphanet:401996 Karyomegalic interstitial nephritis skos:exactMatch OMIM:614817 Unspecified -Orphanet:401996 Karyomegalic interstitial nephritis skos:broadMatch ICD10:N11.8 Unspecified -Orphanet:99735 Myotonia permanens oboInOwl:hasDbXref ICD10:G71.1 Unspecified -Orphanet:99735 Myotonia permanens oboInOwl:hasDbXref OMIM:608390 Unspecified -Orphanet:99735 Myotonia permanens skos:broadMatch ICD10:G71.1 Unspecified -Orphanet:99735 Myotonia permanens skos:broadMatch OMIM:608390 Unspecified -Orphanet:99734 Myotonia fluctuans oboInOwl:hasDbXref OMIM:608390 Unspecified -Orphanet:99734 Myotonia fluctuans oboInOwl:hasDbXref UMLS:C0752355 Unspecified -Orphanet:99734 Myotonia fluctuans oboInOwl:hasDbXref ICD10:G71.1 Unspecified -Orphanet:99734 Myotonia fluctuans skos:broadMatch ICD10:G71.1 Unspecified -Orphanet:99734 Myotonia fluctuans skos:exactMatch UMLS:C0752355 Unspecified -Orphanet:99734 Myotonia fluctuans skos:broadMatch OMIM:608390 Unspecified -Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency oboInOwl:hasDbXref OMIM:617070 Unspecified -Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:exactMatch OMIM:617070 Unspecified -Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q04.8 Unspecified -Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:broadMatch ICD10:Q04.8 Unspecified -Orphanet:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref ICD10:G71.1 Unspecified -Orphanet:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref OMIM:608390 Unspecified -Orphanet:99736 Acetazolamide-responsive myotonia skos:broadMatch OMIM:608390 Unspecified -Orphanet:99736 Acetazolamide-responsive myotonia skos:broadMatch ICD10:G71.1 Unspecified -Orphanet:329319 Thrombocythemia with distal limb defects oboInOwl:hasDbXref ICD10:Q87.2 Unspecified -Orphanet:329319 Thrombocythemia with distal limb defects skos:broadMatch ICD10:Q87.2 Unspecified -Orphanet:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref ICD10:G23.0 Unspecified -Orphanet:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref OMIM:606693 Unspecified -Orphanet:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref UMLS:C1847640 Unspecified -Orphanet:306674 Kufor-Rakeb syndrome skos:exactMatch UMLS:C1847640 Unspecified -Orphanet:306674 Kufor-Rakeb syndrome skos:broadMatch ICD10:G23.0 Unspecified -Orphanet:306674 Kufor-Rakeb syndrome skos:exactMatch OMIM:606693 Unspecified -Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C0585216 Unspecified -Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref OMIM:300448 Unspecified -Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D56.0 Unspecified -Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 Unspecified -Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome skos:broadMatch ICD10:D56.0 Unspecified -Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome skos:broadMatch ICD10:D46.7 Unspecified -Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome skos:exactMatch UMLS:C0585216 Unspecified -Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome skos:exactMatch OMIM:300448 Unspecified -Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref OMIM:618835 Unspecified -Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect skos:exactMatch OMIM:618835 Unspecified -Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref OMIM:102200 Unspecified -Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref ICD10:E22.0 Unspecified -Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref UMLS:C0017547 Unspecified -Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref MESH:D005877 Unspecified -Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref MedDRA:10018265 Unspecified -Orphanet:99725 Pituitary gigantism skos:exactMatch MedDRA:10018265 Unspecified -Orphanet:99725 Pituitary gigantism skos:exactMatch UMLS:C0017547 Unspecified -Orphanet:99725 Pituitary gigantism skos:exactMatch ICD10:E22.0 Unspecified -Orphanet:99725 Pituitary gigantism skos:broadMatch OMIM:102200 Unspecified -Orphanet:99725 Pituitary gigantism skos:exactMatch MESH:D005877 Unspecified -Orphanet:352540 Oncogenic osteomalacia oboInOwl:hasDbXref ICD10:M83.8 Unspecified -Orphanet:352540 Oncogenic osteomalacia oboInOwl:hasDbXref UMLS:C1274103 Unspecified -Orphanet:352540 Oncogenic osteomalacia skos:broadMatch ICD10:M83.8 Unspecified -Orphanet:352540 Oncogenic osteomalacia skos:exactMatch UMLS:C1274103 Unspecified -Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref MedDRA:10058951 Unspecified -Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref UMLS:C0677050 Unspecified -Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref ICD10:T57.2 Unspecified -Orphanet:306682 Manganese poisoning skos:exactMatch ICD10:T57.2 Unspecified -Orphanet:306682 Manganese poisoning skos:exactMatch UMLS:C0677050 Unspecified -Orphanet:306682 Manganese poisoning skos:exactMatch MedDRA:10058951 Unspecified -Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C3668943 Unspecified -Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 Unspecified -Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref OMIM:612319 Unspecified -Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration skos:broadMatch ICD10:G23.0 Unspecified -Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration skos:broadMatch OMIM:612319 Unspecified -Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch UMLS:C3668943 Unspecified -Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning oboInOwl:hasDbXref UMLS:C0393565 Unspecified -Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning oboInOwl:hasDbXref ICD10:G21.2 Unspecified -Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning skos:exactMatch UMLS:C0393565 Unspecified -Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning skos:broadMatch ICD10:G21.2 Unspecified -Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref UMLS:C0020413 Unspecified -Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref ICD10:B71.0 Unspecified -Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref MESH:D006925 Unspecified -Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref MedDRA:10020546 Unspecified -Orphanet:401 Hymenolepiasis skos:exactMatch MedDRA:10020546 Unspecified -Orphanet:401 Hymenolepiasis skos:exactMatch MESH:D006925 Unspecified -Orphanet:401 Hymenolepiasis skos:exactMatch ICD10:B71.0 Unspecified -Orphanet:401 Hymenolepiasis skos:exactMatch UMLS:C0020413 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.0 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.2 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.4 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.6 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.8 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref MedDRA:10014096 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref MESH:D004443 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.1 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.3 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.5 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.7 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.9 Unspecified -Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref UMLS:C0013502 Unspecified -Orphanet:400 Cystic echinococcosis skos:narrowMatch ICD10:B67.0 Unspecified -Orphanet:400 Cystic echinococcosis skos:narrowMatch ICD10:B67.4 Unspecified -Orphanet:400 Cystic echinococcosis skos:narrowMatch ICD10:B67.2 Unspecified -Orphanet:400 Cystic echinococcosis skos:narrowMatch ICD10:B67.8 Unspecified -Orphanet:400 Cystic echinococcosis skos:narrowMatch ICD10:B67.6 Unspecified -Orphanet:400 Cystic echinococcosis skos:exactMatch UMLS:C0013502 Unspecified -Orphanet:400 Cystic echinococcosis skos:exactMatch MedDRA:10014096 Unspecified -Orphanet:400 Cystic echinococcosis skos:exactMatch MESH:D004443 Unspecified -Orphanet:400 Cystic echinococcosis skos:narrowMatch ICD10:B67.3 Unspecified -Orphanet:400 Cystic echinococcosis skos:narrowMatch ICD10:B67.1 Unspecified -Orphanet:400 Cystic echinococcosis skos:narrowMatch ICD10:B67.7 Unspecified -Orphanet:400 Cystic echinococcosis skos:narrowMatch ICD10:B67.5 Unspecified -Orphanet:400 Cystic echinococcosis skos:narrowMatch ICD10:B67.9 Unspecified -Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref MESH:C538213 Unspecified -Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref OMIM:125440 Unspecified -Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref UMLS:C1852201 Unspecified -Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref ICD10:K00.5 Unspecified -Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome skos:exactMatch UMLS:C1852201 Unspecified -Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome skos:broadMatch ICD10:K00.5 Unspecified -Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome skos:exactMatch OMIM:125440 Unspecified -Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome skos:exactMatch MESH:C538213 Unspecified -Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref OMIM:103900 Unspecified -Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref UMLS:C1260386 Unspecified -Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref ICD10:E26.0 Unspecified -Orphanet:403 Familial hyperaldosteronism type I skos:exactMatch UMLS:C1260386 Unspecified -Orphanet:403 Familial hyperaldosteronism type I skos:broadMatch ICD10:E26.0 Unspecified -Orphanet:403 Familial hyperaldosteronism type I skos:exactMatch OMIM:103900 Unspecified -Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref UMLS:C1809471 Unspecified -Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref ICD10:E83.5 Unspecified -Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:145981 Unspecified -Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:600740 Unspecified -Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:145980 Unspecified -Orphanet:405 Familial hypocalciuric hypercalcemia skos:broadMatch ICD10:E83.5 Unspecified -Orphanet:405 Familial hypocalciuric hypercalcemia skos:narrowMatch OMIM:145981 Unspecified -Orphanet:405 Familial hypocalciuric hypercalcemia skos:narrowMatch OMIM:145980 Unspecified -Orphanet:405 Familial hypocalciuric hypercalcemia skos:exactMatch UMLS:C1809471 Unspecified -Orphanet:405 Familial hypocalciuric hypercalcemia skos:narrowMatch OMIM:600740 Unspecified -Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref OMIM:605635 Unspecified -Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref ICD10:E26.0 Unspecified -Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref UMLS:C1854107 Unspecified -Orphanet:404 Familial hyperaldosteronism type II skos:exactMatch UMLS:C1854107 Unspecified -Orphanet:404 Familial hyperaldosteronism type II skos:broadMatch ICD10:E26.0 Unspecified -Orphanet:404 Familial hyperaldosteronism type II skos:exactMatch OMIM:605635 Unspecified -Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref UMLS:C0085106 Unspecified -Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref OMIM:169600 Unspecified -Orphanet:2841 Familial benign chronic pemphigus skos:exactMatch OMIM:169600 Unspecified -Orphanet:2841 Familial benign chronic pemphigus skos:exactMatch UMLS:C0085106 Unspecified -Orphanet:2841 Familial benign chronic pemphigus skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref OMIM:611087 Unspecified -Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome skos:exactMatch OMIM:611087 Unspecified -Orphanet:2843 Pentosuria oboInOwl:hasDbXref OMIM:260800 Unspecified -Orphanet:2843 Pentosuria oboInOwl:hasDbXref MedDRA:10064170 Unspecified -Orphanet:2843 Pentosuria oboInOwl:hasDbXref UMLS:C0268162 Unspecified -Orphanet:2843 Pentosuria oboInOwl:hasDbXref MESH:C536652 Unspecified -Orphanet:2843 Pentosuria oboInOwl:hasDbXref ICD10:E74.8 Unspecified -Orphanet:2843 Pentosuria skos:exactMatch MESH:C536652 Unspecified -Orphanet:2843 Pentosuria skos:exactMatch UMLS:C0268162 Unspecified -Orphanet:2843 Pentosuria skos:broadMatch ICD10:E74.8 Unspecified -Orphanet:2843 Pentosuria skos:exactMatch OMIM:260800 Unspecified -Orphanet:2843 Pentosuria skos:exactMatch MedDRA:10064170 Unspecified -Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref UMLS:C1859690 Unspecified -Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref ICD10:M12.8 Unspecified -Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref OMIM:208250 Unspecified -Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome skos:exactMatch OMIM:208250 Unspecified -Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome skos:broadMatch ICD10:M12.8 Unspecified -Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome skos:exactMatch UMLS:C1859690 Unspecified -Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref ICD10:D82.8 Unspecified -Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref OMIM:604173 Unspecified -Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref UMLS:C1858723 Unspecified -Orphanet:221046 Poikiloderma with neutropenia skos:exactMatch UMLS:C1858723 Unspecified -Orphanet:221046 Poikiloderma with neutropenia skos:exactMatch OMIM:604173 Unspecified -Orphanet:221046 Poikiloderma with neutropenia skos:broadMatch ICD10:D82.8 Unspecified -Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome oboInOwl:hasDbXref OMIM:615704 Unspecified -Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome skos:exactMatch OMIM:615704 Unspecified -Orphanet:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref ICD10:L93.1 Unspecified -Orphanet:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref MedDRA:10057903 Unspecified -Orphanet:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref UMLS:C0024140 Unspecified -Orphanet:163525 Subacute cutaneous lupus erythematosus skos:exactMatch UMLS:C0024140 Unspecified -Orphanet:163525 Subacute cutaneous lupus erythematosus skos:exactMatch ICD10:L93.1 Unspecified -Orphanet:163525 Subacute cutaneous lupus erythematosus skos:exactMatch MedDRA:10057903 Unspecified -Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 Unspecified -Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref UMLS:C0751748 Unspecified -Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 Unspecified -Orphanet:407 Glycine encephalopathy skos:exactMatch UMLS:C0751748 Unspecified -Orphanet:407 Glycine encephalopathy skos:exactMatch OMIM:605899 Unspecified -Orphanet:407 Glycine encephalopathy skos:broadMatch ICD10:E72.5 Unspecified -Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref OMIM:181400 Unspecified -Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref ICD10:G12.1 Unspecified -Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref UMLS:C1867005 Unspecified -Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch UMLS:C1867005 Unspecified -Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type skos:broadMatch ICD10:G12.1 Unspecified -Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch OMIM:181400 Unspecified -Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref OMIM:144150 Unspecified -Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref MESH:C538377 Unspecified -Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref MedDRA:10071311 Unspecified -Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref UMLS:C0263420 Unspecified -Orphanet:409 Hyperkeratosis lenticularis perstans skos:exactMatch MedDRA:10071311 Unspecified -Orphanet:409 Hyperkeratosis lenticularis perstans skos:exactMatch UMLS:C0263420 Unspecified -Orphanet:409 Hyperkeratosis lenticularis perstans skos:exactMatch OMIM:144150 Unspecified -Orphanet:409 Hyperkeratosis lenticularis perstans skos:exactMatch MESH:C538377 Unspecified -Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref UMLS:C0574108 Unspecified -Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref OMIM:307030 Unspecified -Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref ICD10:E74.8 Unspecified -Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref UMLS:C0268418 Unspecified -Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref MESH:C538138 Unspecified -Orphanet:408 Isolated glycerol kinase deficiency skos:exactMatch MESH:C538138 Unspecified -Orphanet:408 Isolated glycerol kinase deficiency skos:broadMatch ICD10:E74.8 Unspecified -Orphanet:408 Isolated glycerol kinase deficiency skos:exactMatch OMIM:307030 Unspecified -Orphanet:408 Isolated glycerol kinase deficiency skos:exactMatch UMLS:C0574108 Unspecified -Orphanet:408 Isolated glycerol kinase deficiency skos:exactMatch UMLS:C0268418 Unspecified -Orphanet:94091 Mills syndrome oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:94091 Mills syndrome skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref UMLS:C2932717 Unspecified -Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref UMLS:C0271870 Unspecified -Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref MESH:C548077 Unspecified -Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref ICD10:E20.1 Unspecified -Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref OMIM:203330 Unspecified -Orphanet:94090 Pseudohypoparathyroidism type 2 skos:exactMatch OMIM:203330 Unspecified -Orphanet:94090 Pseudohypoparathyroidism type 2 skos:exactMatch UMLS:C2932717 Unspecified -Orphanet:94090 Pseudohypoparathyroidism type 2 skos:exactMatch MESH:C548077 Unspecified -Orphanet:94090 Pseudohypoparathyroidism type 2 skos:broadMatch ICD10:E20.1 Unspecified -Orphanet:94090 Pseudohypoparathyroidism type 2 skos:exactMatch UMLS:C0271870 Unspecified -Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions oboInOwl:hasDbXref ICD10:G10 Unspecified -Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions skos:broadMatch ICD10:G10 Unspecified -Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref UMLS:C0339541 Unspecified -Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref OMIM:268100 Unspecified -Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref UMLS:C1849394 Unspecified -Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:53540 Goldmann-Favre syndrome skos:exactMatch UMLS:C1849394 Unspecified -Orphanet:53540 Goldmann-Favre syndrome skos:exactMatch UMLS:C0339541 Unspecified -Orphanet:53540 Goldmann-Favre syndrome skos:exactMatch OMIM:268100 Unspecified -Orphanet:53540 Goldmann-Favre syndrome skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref MedDRA:10029282 Unspecified -Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref ICD10:G21.0 Unspecified -Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref MESH:D009459 Unspecified -Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref UMLS:C0027849 Unspecified -Orphanet:94093 Neuroleptic malignant syndrome skos:exactMatch MedDRA:10029282 Unspecified -Orphanet:94093 Neuroleptic malignant syndrome skos:exactMatch ICD10:G21.0 Unspecified -Orphanet:94093 Neuroleptic malignant syndrome skos:exactMatch UMLS:C0027849 Unspecified -Orphanet:94093 Neuroleptic malignant syndrome skos:exactMatch MESH:D009459 Unspecified -Orphanet:480701 Facial diplegia with paresthesias oboInOwl:hasDbXref ICD10:G61.0 Unspecified -Orphanet:480701 Facial diplegia with paresthesias skos:broadMatch ICD10:G61.0 Unspecified -Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract oboInOwl:hasDbXref ICD10:F84.8 Unspecified -Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract oboInOwl:hasDbXref OMIM:617393 Unspecified -Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract skos:exactMatch OMIM:617393 Unspecified -Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract skos:broadMatch ICD10:F84.8 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:610422 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931280 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:618840 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:203650 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:613930 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome skos:narrowMatch OMIM:610422 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome skos:exactMatch OMIM:203650 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome skos:narrowMatch OMIM:618840 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome skos:exactMatch UMLS:C2931280 Unspecified -Orphanet:2850 Alopecia-intellectual disability syndrome skos:narrowMatch OMIM:613930 Unspecified -Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref UMLS:C1275083 Unspecified -Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref OMIM:173700 Unspecified -Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type skos:exactMatch UMLS:C1275083 Unspecified -Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type skos:exactMatch OMIM:173700 Unspecified -Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:616138 Unspecified -Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:615300 Unspecified -Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:614129 Unspecified -Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:233400 Unspecified -Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:617565 Unspecified -Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref UMLS:C0685838 Unspecified -Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:614926 Unspecified -Orphanet:2855 Perrault syndrome skos:exactMatch OMIM:233400 Unspecified -Orphanet:2855 Perrault syndrome skos:narrowMatch OMIM:614129 Unspecified -Orphanet:2855 Perrault syndrome skos:narrowMatch OMIM:615300 Unspecified -Orphanet:2855 Perrault syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:2855 Perrault syndrome skos:narrowMatch OMIM:616138 Unspecified -Orphanet:2855 Perrault syndrome skos:exactMatch UMLS:C0685838 Unspecified -Orphanet:2855 Perrault syndrome skos:narrowMatch OMIM:614926 Unspecified -Orphanet:2855 Perrault syndrome skos:narrowMatch OMIM:617565 Unspecified -Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 Unspecified -Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome skos:broadMatch ICD10:G61.0 Unspecified -Orphanet:399175 Traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.2 Unspecified -Orphanet:399175 Traumatic avascular necrosis skos:exactMatch ICD10:M87.2 Unspecified -Orphanet:94080 Non-functioning paraganglioma oboInOwl:hasDbXref ICD10:D44.7 Unspecified -Orphanet:94080 Non-functioning paraganglioma skos:broadMatch ICD10:D44.7 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref UMLS:C0024591 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:154276 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref MESH:D008305 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:601888 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:600467 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:145600 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:154275 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref ICD10:T88.3 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:601887 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref MedDRA:10020844 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:601888 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia skos:exactMatch ICD10:T88.3 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:154276 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia skos:exactMatch MedDRA:10020844 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia skos:exactMatch OMIM:145600 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:600467 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:601887 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:154275 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia skos:exactMatch UMLS:C0024591 Unspecified -Orphanet:423 Malignant hyperthermia of anesthesia skos:exactMatch MESH:D008305 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:265400 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615344 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615342 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:178600 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615343 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:265400 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension skos:exactMatch OMIM:178600 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:615342 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:615344 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:615343 Unspecified -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension skos:exactMatch ICD10:I27.0 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref UMLS:C0342898 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref MedDRA:10065133 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref OMIM:618463 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref OMIM:604091 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref UMLS:C1704429 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref ICD10:E78.6 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref MESH:D052456 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency skos:exactMatch MESH:D052456 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency skos:exactMatch UMLS:C1704429 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency skos:broadMatch ICD10:E78.6 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency skos:exactMatch MedDRA:10065133 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency skos:exactMatch UMLS:C0342898 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency skos:exactMatch OMIM:604091 Unspecified -Orphanet:425 Apolipoprotein A-I deficiency skos:exactMatch OMIM:618463 Unspecified -Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref OMIM:607475 Unspecified -Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref UMLS:C1843816 Unspecified -Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:85128 Bothnia retinal dystrophy skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:85128 Bothnia retinal dystrophy skos:exactMatch UMLS:C1843816 Unspecified -Orphanet:85128 Bothnia retinal dystrophy skos:exactMatch OMIM:607475 Unspecified -Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref ICD10:E05.8 Unspecified -Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref OMIM:609152 Unspecified -Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch OMIM:609152 Unspecified -Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor skos:broadMatch ICD10:E05.8 Unspecified -Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:203400 Unspecified -Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 Unspecified -Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:606984 Unspecified -Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:610600 Unspecified -Orphanet:427 Familial hypoaldosteronism skos:narrowMatch OMIM:606984 Unspecified -Orphanet:427 Familial hypoaldosteronism skos:narrowMatch OMIM:610600 Unspecified -Orphanet:427 Familial hypoaldosteronism skos:narrowMatch OMIM:203400 Unspecified -Orphanet:427 Familial hypoaldosteronism skos:broadMatch ICD10:E27.4 Unspecified -Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref UMLS:C0406594 Unspecified -Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref ICD10:M35.8 Unspecified -Orphanet:94087 Cytophagic histiocytic panniculitis skos:exactMatch UMLS:C0406594 Unspecified -Orphanet:94087 Cytophagic histiocytic panniculitis skos:broadMatch ICD10:M35.8 Unspecified -Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref UMLS:C0268478 Unspecified -Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref ICD10:E70.8 Unspecified -Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref OMIM:211000 Unspecified -Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref MESH:C536239 Unspecified -Orphanet:94086 Blue diaper syndrome skos:exactMatch MESH:C536239 Unspecified -Orphanet:94086 Blue diaper syndrome skos:exactMatch OMIM:211000 Unspecified -Orphanet:94086 Blue diaper syndrome skos:broadMatch ICD10:E70.8 Unspecified -Orphanet:94086 Blue diaper syndrome skos:exactMatch UMLS:C0268478 Unspecified -Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref UMLS:C1864100 Unspecified -Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref UMLS:C2932715 Unspecified -Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref MESH:C548075 Unspecified -Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref ICD10:E20.1 Unspecified -Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref OMIM:603233 Unspecified -Orphanet:94089 Pseudohypoparathyroidism type 1B skos:exactMatch UMLS:C2932715 Unspecified -Orphanet:94089 Pseudohypoparathyroidism type 1B skos:exactMatch MESH:C548075 Unspecified -Orphanet:94089 Pseudohypoparathyroidism type 1B skos:broadMatch ICD10:E20.1 Unspecified -Orphanet:94089 Pseudohypoparathyroidism type 1B skos:exactMatch OMIM:603233 Unspecified -Orphanet:94089 Pseudohypoparathyroidism type 1B skos:exactMatch UMLS:C1864100 Unspecified -Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS:C0031269 Unspecified -Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref MESH:D010580 Unspecified -Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref ICD10:Q85.8 Unspecified -Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref OMIM:175200 Unspecified -Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref MedDRA:10034764 Unspecified -Orphanet:2869 Peutz-Jeghers syndrome skos:exactMatch MedDRA:10034764 Unspecified -Orphanet:2869 Peutz-Jeghers syndrome skos:broadMatch ICD10:Q85.8 Unspecified -Orphanet:2869 Peutz-Jeghers syndrome skos:exactMatch OMIM:175200 Unspecified -Orphanet:2869 Peutz-Jeghers syndrome skos:exactMatch UMLS:C0031269 Unspecified -Orphanet:2869 Peutz-Jeghers syndrome skos:exactMatch MESH:D010580 Unspecified -Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref MedDRA:10020967 Unspecified -Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref ICD10:Q77.4 Unspecified -Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref UMLS:C0410529 Unspecified -Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref OMIM:146000 Unspecified -Orphanet:429 Hypochondroplasia skos:broadMatch ICD10:Q77.4 Unspecified -Orphanet:429 Hypochondroplasia skos:exactMatch UMLS:C0410529 Unspecified -Orphanet:429 Hypochondroplasia skos:exactMatch OMIM:146000 Unspecified -Orphanet:429 Hypochondroplasia skos:exactMatch MedDRA:10020967 Unspecified -Orphanet:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.3 Unspecified -Orphanet:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.1 Unspecified -Orphanet:399180 Secondary non-traumatic avascular necrosis skos:broadMatch ICD10:M87.1 Unspecified -Orphanet:399180 Secondary non-traumatic avascular necrosis skos:broadMatch ICD10:M87.3 Unspecified -Orphanet:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref OMIM:616795 Unspecified -Orphanet:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:458803 Spinocerebellar ataxia type 42 skos:exactMatch OMIM:616795 Unspecified -Orphanet:458803 Spinocerebellar ataxia type 42 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.2 Unspecified -Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref MESH:D006952 Unspecified -Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref MedDRA:10060751 Unspecified -Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref OMIM:617347 Unspecified -Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref UMLS:C0020479 Unspecified -Orphanet:412 Dysbetalipoproteinemia skos:broadMatch ICD10:E78.2 Unspecified -Orphanet:412 Dysbetalipoproteinemia skos:exactMatch UMLS:C0020479 Unspecified -Orphanet:412 Dysbetalipoproteinemia skos:exactMatch OMIM:617347 Unspecified -Orphanet:412 Dysbetalipoproteinemia skos:exactMatch MESH:D006952 Unspecified -Orphanet:412 Dysbetalipoproteinemia skos:exactMatch MedDRA:10060751 Unspecified -Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 Unspecified -Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome skos:broadMatch ICD10:G61.0 Unspecified -Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref UMLS:C0599035 Unspecified -Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref ICD10:E72.4 Unspecified -Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref MESH:C537132 Unspecified -Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref OMIM:258870 Unspecified -Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref UMLS:C0018425 Unspecified -Orphanet:414 Gyrate atrophy of choroid and retina skos:exactMatch UMLS:C0599035 Unspecified -Orphanet:414 Gyrate atrophy of choroid and retina skos:exactMatch MESH:C537132 Unspecified -Orphanet:414 Gyrate atrophy of choroid and retina skos:broadMatch ICD10:E72.4 Unspecified -Orphanet:414 Gyrate atrophy of choroid and retina skos:exactMatch UMLS:C0018425 Unspecified -Orphanet:414 Gyrate atrophy of choroid and retina skos:exactMatch OMIM:258870 Unspecified -Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref MedDRA:10020703 Unspecified -Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref OMIM:260000 Unspecified -Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref MESH:D006959 Unspecified -Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref UMLS:C0020501 Unspecified -Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref ICD10:E74.8 Unspecified -Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref OMIM:259900 Unspecified -Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref OMIM:613616 Unspecified -Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref UMLS:C0020500 Unspecified -Orphanet:416 Primary hyperoxaluria skos:exactMatch UMLS:C0020500 Unspecified -Orphanet:416 Primary hyperoxaluria skos:narrowMatch OMIM:613616 Unspecified -Orphanet:416 Primary hyperoxaluria skos:narrowMatch OMIM:259900 Unspecified -Orphanet:416 Primary hyperoxaluria skos:broadMatch ICD10:E74.8 Unspecified -Orphanet:416 Primary hyperoxaluria skos:exactMatch MESH:D006959 Unspecified -Orphanet:416 Primary hyperoxaluria skos:exactMatch UMLS:C0020501 Unspecified -Orphanet:416 Primary hyperoxaluria skos:exactMatch MedDRA:10020703 Unspecified -Orphanet:416 Primary hyperoxaluria skos:narrowMatch OMIM:260000 Unspecified -Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref ICD10:E72.4 Unspecified -Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref OMIM:238970 Unspecified -Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref UMLS:C0268540 Unspecified -Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch UMLS:C0268540 Unspecified -Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch OMIM:238970 Unspecified -Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:broadMatch ICD10:E72.4 Unspecified -Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref ICD10:D68.2 Unspecified -Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref OMIM:277450 Unspecified -Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref OMIM:607473 Unspecified -Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref UMLS:C1848534 Unspecified -Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors skos:exactMatch OMIM:277450 Unspecified -Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors skos:exactMatch UMLS:C1848534 Unspecified -Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors skos:narrowMatch OMIM:607473 Unspecified -Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors skos:broadMatch ICD10:D68.2 Unspecified -Orphanet:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref ICD10:Q85.8 Unspecified -Orphanet:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref UMLS:C1274879 Unspecified -Orphanet:2875 Phakomatosis pigmentovascularis skos:exactMatch UMLS:C1274879 Unspecified -Orphanet:2875 Phakomatosis pigmentovascularis skos:broadMatch ICD10:Q85.8 Unspecified -Orphanet:1544 Benign focal seizures of adolescence oboInOwl:hasDbXref ICD10:G40.8 Unspecified -Orphanet:1544 Benign focal seizures of adolescence skos:broadMatch ICD10:G40.8 Unspecified -Orphanet:1549 Cryptosporidiosis oboInOwl:hasDbXref UMLS:C0010418 Unspecified -Orphanet:1549 Cryptosporidiosis oboInOwl:hasDbXref MESH:D003457 Unspecified -Orphanet:1549 Cryptosporidiosis oboInOwl:hasDbXref MedDRA:10011502 Unspecified -Orphanet:1549 Cryptosporidiosis oboInOwl:hasDbXref ICD10:A07.2 Unspecified -Orphanet:1549 Cryptosporidiosis skos:exactMatch ICD10:A07.2 Unspecified -Orphanet:1549 Cryptosporidiosis skos:exactMatch MedDRA:10011502 Unspecified -Orphanet:1549 Cryptosporidiosis skos:exactMatch UMLS:C0010418 Unspecified -Orphanet:1549 Cryptosporidiosis skos:exactMatch MESH:D003457 Unspecified -Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref MESH:D003453 Unspecified -Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.8 Unspecified -Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.2 Unspecified -Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.0 Unspecified -Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref UMLS:C0010414 Unspecified -Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref MedDRA:10011490 Unspecified -Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.7 Unspecified -Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.9 Unspecified -Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.1 Unspecified -Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.3 Unspecified -Orphanet:1546 Cryptococcosis skos:narrowMatch ICD10:B45.9 Unspecified -Orphanet:1546 Cryptococcosis skos:narrowMatch ICD10:B45.7 Unspecified -Orphanet:1546 Cryptococcosis skos:narrowMatch ICD10:B45.3 Unspecified -Orphanet:1546 Cryptococcosis skos:narrowMatch ICD10:B45.1 Unspecified -Orphanet:1546 Cryptococcosis skos:exactMatch MESH:D003453 Unspecified -Orphanet:1546 Cryptococcosis skos:exactMatch UMLS:C0010414 Unspecified -Orphanet:1546 Cryptococcosis skos:narrowMatch ICD10:B45.8 Unspecified -Orphanet:1546 Cryptococcosis skos:narrowMatch ICD10:B45.2 Unspecified -Orphanet:1546 Cryptococcosis skos:narrowMatch ICD10:B45.0 Unspecified -Orphanet:1546 Cryptococcosis skos:exactMatch MedDRA:10011490 Unspecified -Orphanet:370396 Small cell carcinoma of the ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:370396 Small cell carcinoma of the ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref OMIM:612951 Unspecified -Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref UMLS:C2751843 Unspecified -Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref MESH:C567845 Unspecified -Orphanet:85136 Cystic leukoencephalopathy without megalencephaly skos:exactMatch MESH:C567845 Unspecified -Orphanet:85136 Cystic leukoencephalopathy without megalencephaly skos:exactMatch OMIM:612951 Unspecified -Orphanet:85136 Cystic leukoencephalopathy without megalencephaly skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:85136 Cystic leukoencephalopathy without megalencephaly skos:exactMatch UMLS:C2751843 Unspecified -Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref ICD10:E21.0 Unspecified -Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref OMIM:618188 Unspecified -Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref UMLS:C1832615 Unspecified -Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref OMIM:239200 Unspecified -Orphanet:417 Neonatal severe primary hyperparathyroidism skos:exactMatch UMLS:C1832615 Unspecified -Orphanet:417 Neonatal severe primary hyperparathyroidism skos:exactMatch OMIM:239200 Unspecified -Orphanet:417 Neonatal severe primary hyperparathyroidism skos:broadMatch ICD10:E21.0 Unspecified -Orphanet:417 Neonatal severe primary hyperparathyroidism skos:narrowMatch OMIM:618188 Unspecified -Orphanet:85138 Addison disease oboInOwl:hasDbXref UMLS:C0271737 Unspecified -Orphanet:85138 Addison disease oboInOwl:hasDbXref OMIM:103230 Unspecified -Orphanet:85138 Addison disease oboInOwl:hasDbXref MESH:D000224 Unspecified -Orphanet:85138 Addison disease oboInOwl:hasDbXref MedDRA:10001130 Unspecified -Orphanet:85138 Addison disease oboInOwl:hasDbXref ICD10:E27.1 Unspecified -Orphanet:85138 Addison disease oboInOwl:hasDbXref UMLS:C0001403 Unspecified -Orphanet:85138 Addison disease oboInOwl:hasDbXref OMIM:240200 Unspecified -Orphanet:85138 Addison disease skos:exactMatch UMLS:C0001403 Unspecified -Orphanet:85138 Addison disease skos:broadMatch ICD10:E27.1 Unspecified -Orphanet:85138 Addison disease skos:exactMatch OMIM:240200 Unspecified -Orphanet:85138 Addison disease skos:narrowMatch OMIM:103230 Unspecified -Orphanet:85138 Addison disease skos:exactMatch UMLS:C0271737 Unspecified -Orphanet:85138 Addison disease skos:exactMatch MESH:D000224 Unspecified -Orphanet:85138 Addison disease skos:exactMatch MedDRA:10001130 Unspecified -Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref ICD10:E72.5 Unspecified -Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref MedDRA:10058513 Unspecified -Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref UMLS:C0268529 Unspecified -Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref OMIM:239500 Unspecified -Orphanet:419 Hyperprolinemia type 1 skos:exactMatch OMIM:239500 Unspecified -Orphanet:419 Hyperprolinemia type 1 skos:broadMatch ICD10:E72.5 Unspecified -Orphanet:419 Hyperprolinemia type 1 skos:exactMatch UMLS:C0268529 Unspecified -Orphanet:419 Hyperprolinemia type 1 skos:exactMatch MedDRA:10058513 Unspecified -Orphanet:231450 Acute pure sensory neuropathy oboInOwl:hasDbXref ICD10:G61.0 Unspecified -Orphanet:231450 Acute pure sensory neuropathy skos:broadMatch ICD10:G61.0 Unspecified -Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome oboInOwl:hasDbXref ICD10:C96.7 Unspecified -Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome oboInOwl:hasDbXref OMIM:616871 Unspecified -Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome skos:exactMatch OMIM:616871 Unspecified -Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome skos:broadMatch ICD10:C96.7 Unspecified -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref ICD10:M89.8 Unspecified -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref OMIM:112250 Unspecified -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref MESH:C536169 Unspecified -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref UMLS:C1862177 Unspecified -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref UMLS:C1300202 Unspecified -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome skos:broadMatch ICD10:M89.8 Unspecified -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch MESH:C536169 Unspecified -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch UMLS:C1862177 Unspecified -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch UMLS:C1300202 Unspecified -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch OMIM:112250 Unspecified -Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref OMIM:260470 Unspecified -Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref ICD10:A81.1 Unspecified -Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref UMLS:C0038522 Unspecified -Orphanet:2806 Subacute sclerosing leukoencephalitis skos:exactMatch UMLS:C0038522 Unspecified -Orphanet:2806 Subacute sclerosing leukoencephalitis skos:broadMatch ICD10:A81.1 Unspecified -Orphanet:2806 Subacute sclerosing leukoencephalitis skos:exactMatch OMIM:260470 Unspecified -Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref UMLS:C0205770 Unspecified -Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref OMIM:260500 Unspecified -Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref MESH:D020288 Unspecified -Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref MedDRA:10008777 Unspecified -Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref ICD10:D33.0 Unspecified -Orphanet:2807 Papilloma of choroid plexus skos:exactMatch OMIM:260500 Unspecified -Orphanet:2807 Papilloma of choroid plexus skos:exactMatch UMLS:C0205770 Unspecified -Orphanet:2807 Papilloma of choroid plexus skos:broadMatch ICD10:D33.0 Unspecified -Orphanet:2807 Papilloma of choroid plexus skos:exactMatch MESH:D020288 Unspecified -Orphanet:2807 Papilloma of choroid plexus skos:exactMatch MedDRA:10008777 Unspecified -Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref UMLS:C0030186 Unspecified -Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref MESH:D010145 Unspecified -Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref MedDRA:10033366 Unspecified -Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref ICD10:C44.5 Unspecified -Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref MedDRA:10068223 Unspecified -Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref OMIM:167300 Unspecified -Orphanet:2800 Extramammary Paget disease skos:exactMatch MedDRA:10068223 Unspecified -Orphanet:2800 Extramammary Paget disease skos:exactMatch OMIM:167300 Unspecified -Orphanet:2800 Extramammary Paget disease skos:broadMatch ICD10:C44.5 Unspecified -Orphanet:2800 Extramammary Paget disease skos:exactMatch MedDRA:10033366 Unspecified -Orphanet:2800 Extramammary Paget disease skos:exactMatch MESH:D010145 Unspecified -Orphanet:2800 Extramammary Paget disease skos:exactMatch UMLS:C0030186 Unspecified -Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref ICD10:D64.0 Unspecified -Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref OMIM:301310 Unspecified -Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1845028 Unspecified -Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia skos:exactMatch OMIM:301310 Unspecified -Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia skos:exactMatch UMLS:C1845028 Unspecified -Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia skos:broadMatch ICD10:D64.0 Unspecified -Orphanet:231457 Acute pandysautonomia oboInOwl:hasDbXref UMLS:C2315246 Unspecified -Orphanet:231457 Acute pandysautonomia oboInOwl:hasDbXref ICD10:G61.0 Unspecified -Orphanet:231457 Acute pandysautonomia skos:exactMatch UMLS:C2315246 Unspecified -Orphanet:231457 Acute pandysautonomia skos:broadMatch ICD10:G61.0 Unspecified -Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref OMIM:300673 Unspecified -Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref ICD10:Q02 Unspecified -Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly skos:exactMatch OMIM:300673 Unspecified -Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly skos:broadMatch ICD10:Q02 Unspecified -Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref ICD10:G51.0 Unspecified -Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref OMIM:134200 Unspecified -Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref UMLS:C1851399 Unspecified -Orphanet:2809 Familial recurrent peripheral facial palsy skos:exactMatch OMIM:134200 Unspecified -Orphanet:2809 Familial recurrent peripheral facial palsy skos:broadMatch ICD10:G51.0 Unspecified -Orphanet:2809 Familial recurrent peripheral facial palsy skos:exactMatch UMLS:C1851399 Unspecified -Orphanet:536516 Myopathic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:536516 Myopathic Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:231466 Acute sensory ataxic neuropathy oboInOwl:hasDbXref ICD10:G61.0 Unspecified -Orphanet:231466 Acute sensory ataxic neuropathy skos:broadMatch ICD10:G61.0 Unspecified -Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref OMIM:601042 Unspecified -Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref UMLS:C1832855 Unspecified -Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity skos:exactMatch UMLS:C1832855 Unspecified -Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity skos:exactMatch OMIM:601042 Unspecified -Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:401945 Moyamoya disease with early-onset achalasia oboInOwl:hasDbXref ICD10:I67.5 Unspecified -Orphanet:401945 Moyamoya disease with early-onset achalasia oboInOwl:hasDbXref OMIM:615750 Unspecified -Orphanet:401945 Moyamoya disease with early-onset achalasia skos:exactMatch OMIM:615750 Unspecified -Orphanet:401945 Moyamoya disease with early-onset achalasia skos:broadMatch ICD10:I67.5 Unspecified -Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref OMIM:614321 Unspecified -Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:488650 Distal myopathy, Tateyama type skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:488650 Distal myopathy, Tateyama type skos:exactMatch OMIM:614321 Unspecified -Orphanet:289682 Lymphoepithelial-like carcinoma oboInOwl:hasDbXref ICD10:C80.9 Unspecified -Orphanet:289682 Lymphoepithelial-like carcinoma skos:broadMatch ICD10:C80.9 Unspecified -Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref UMLS:C0432292 Unspecified -Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref ICD10:M89.5 Unspecified -Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref OMIM:174810 Unspecified -Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref MESH:C536335 Unspecified -Orphanet:85195 Familial expansile osteolysis skos:exactMatch MESH:C536335 Unspecified -Orphanet:85195 Familial expansile osteolysis skos:exactMatch OMIM:174810 Unspecified -Orphanet:85195 Familial expansile osteolysis skos:broadMatch ICD10:M89.5 Unspecified -Orphanet:85195 Familial expansile osteolysis skos:exactMatch UMLS:C0432292 Unspecified -Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref OMIM:270850 Unspecified -Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1849113 Unspecified -Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch UMLS:C1849113 Unspecified -Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch OMIM:270850 Unspecified -Orphanet:2812 Parana hard skin syndrome oboInOwl:hasDbXref ICD10:L91.8 Unspecified -Orphanet:2812 Parana hard skin syndrome oboInOwl:hasDbXref UMLS:C1850079 Unspecified -Orphanet:2812 Parana hard skin syndrome oboInOwl:hasDbXref OMIM:260530 Unspecified -Orphanet:2812 Parana hard skin syndrome skos:exactMatch OMIM:260530 Unspecified -Orphanet:2812 Parana hard skin syndrome skos:exactMatch UMLS:C1850079 Unspecified -Orphanet:2812 Parana hard skin syndrome skos:broadMatch ICD10:L91.8 Unspecified -Orphanet:289685 Myopericytoma oboInOwl:hasDbXref ICD10:D21.9 Unspecified -Orphanet:289685 Myopericytoma oboInOwl:hasDbXref UMLS:C1302808 Unspecified -Orphanet:289685 Myopericytoma skos:exactMatch UMLS:C1302808 Unspecified -Orphanet:289685 Myopericytoma skos:broadMatch ICD10:D21.9 Unspecified -Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref UMLS:C1300229 Unspecified -Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref ICD10:Q78.4 Unspecified -Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref OMIM:137360 Unspecified -Orphanet:85197 Genochondromatosis type 1 skos:broadMatch OMIM:137360 Unspecified -Orphanet:85197 Genochondromatosis type 1 skos:exactMatch UMLS:C1300229 Unspecified -Orphanet:85197 Genochondromatosis type 1 skos:broadMatch ICD10:Q78.4 Unspecified -Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency oboInOwl:hasDbXref ICD10:E74.8 Unspecified -Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency oboInOwl:hasDbXref OMIM:615751 Unspecified -Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:exactMatch OMIM:615751 Unspecified -Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:broadMatch ICD10:E74.8 Unspecified -Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref UMLS:C2675179 Unspecified -Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref OMIM:612718 Unspecified -Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency skos:exactMatch OMIM:612718 Unspecified -Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency skos:exactMatch UMLS:C2675179 Unspecified -Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref UMLS:C2751532 Unspecified -Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref OMIM:605911 Unspecified -Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch OMIM:605911 Unspecified -Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch UMLS:C2751532 Unspecified -Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref MESH:C536870 Unspecified -Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref OMIM:182815 Unspecified -Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref UMLS:C1866851 Unspecified -Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch MESH:C536870 Unspecified -Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch OMIM:182815 Unspecified -Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch UMLS:C1866851 Unspecified -Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref MESH:C536874 Unspecified -Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref OMIM:182820 Unspecified -Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref UMLS:C1866850 Unspecified -Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:2826 Spastic paraplegia-precocious puberty syndrome skos:exactMatch UMLS:C1866850 Unspecified -Orphanet:2826 Spastic paraplegia-precocious puberty syndrome skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:2826 Spastic paraplegia-precocious puberty syndrome skos:exactMatch OMIM:182820 Unspecified -Orphanet:2826 Spastic paraplegia-precocious puberty syndrome skos:exactMatch MESH:C536874 Unspecified -Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref ICD10:G20 Unspecified -Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:300557 Unspecified -Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:600116 Unspecified -Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:602404 Unspecified -Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:610297 Unspecified -Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:606324 Unspecified -Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:613643 Unspecified -Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:615528 Unspecified -Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:605909 Unspecified -Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:606852 Unspecified -Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:616840 Unspecified -Orphanet:2828 Young-onset Parkinson disease skos:narrowMatch OMIM:600116 Unspecified -Orphanet:2828 Young-onset Parkinson disease skos:narrowMatch OMIM:602404 Unspecified -Orphanet:2828 Young-onset Parkinson disease skos:broadMatch ICD10:G20 Unspecified -Orphanet:2828 Young-onset Parkinson disease skos:narrowMatch OMIM:300557 Unspecified -Orphanet:2828 Young-onset Parkinson disease skos:broadMatch OMIM:615528 Unspecified -Orphanet:2828 Young-onset Parkinson disease skos:narrowMatch OMIM:616840 Unspecified -Orphanet:2828 Young-onset Parkinson disease skos:narrowMatch OMIM:606852 Unspecified -Orphanet:2828 Young-onset Parkinson disease skos:narrowMatch OMIM:610297 Unspecified -Orphanet:2828 Young-onset Parkinson disease skos:narrowMatch OMIM:613643 Unspecified -Orphanet:2828 Young-onset Parkinson disease skos:narrowMatch OMIM:606324 Unspecified -Orphanet:2828 Young-onset Parkinson disease skos:narrowMatch OMIM:605909 Unspecified -Orphanet:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref OMIM:618881 Unspecified -Orphanet:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:570422 Galactose mutarotase deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:570422 Galactose mutarotase deficiency skos:exactMatch OMIM:618881 Unspecified -Orphanet:85162 Facial onset sensory and motor neuronopathy oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:85162 Facial onset sensory and motor neuronopathy skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref MESH:C538335 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref OMIM:604360 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref UMLS:C1858479 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref MESH:C537483 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref UMLS:C2931821 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 skos:exactMatch UMLS:C2931821 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 skos:exactMatch MESH:C537483 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 skos:exactMatch UMLS:C1858479 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 skos:exactMatch OMIM:604360 Unspecified -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 skos:exactMatch MESH:C538335 Unspecified -Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref UMLS:C2674173 Unspecified -Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref ICD10:Q77.4 Unspecified -Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref OMIM:616482 Unspecified -Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch OMIM:616482 Unspecified -Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:broadMatch ICD10:Q77.4 Unspecified -Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch UMLS:C2674173 Unspecified -Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref UMLS:C1291564 Unspecified -Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref OMIM:608643 Unspecified -Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref UMLS:C0342686 Unspecified -Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch UMLS:C0342686 Unspecified -Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch OMIM:608643 Unspecified -Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch UMLS:C1291564 Unspecified -Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref UMLS:C1864852 Unspecified -Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref OMIM:610474 Unspecified -Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.2 Unspecified -Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:broadMatch ICD10:Q87.2 Unspecified -Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch OMIM:610474 Unspecified -Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch UMLS:C1864852 Unspecified -Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref OMIM:231690 Unspecified -Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref UMLS:C0342873 Unspecified -Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref ICD10:E72.3 Unspecified -Orphanet:35706 Glutaric acidemia type 3 skos:broadMatch ICD10:E72.3 Unspecified -Orphanet:35706 Glutaric acidemia type 3 skos:exactMatch UMLS:C0342873 Unspecified -Orphanet:35706 Glutaric acidemia type 3 skos:exactMatch OMIM:231690 Unspecified -Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref UMLS:C1837073 Unspecified -Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref OMIM:608940 Unspecified -Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch OMIM:608940 Unspecified -Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch UMLS:C1837073 Unspecified -Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 Unspecified -Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C0334287 Unspecified -Orphanet:401920 Fibrolamellar hepatocellular carcinoma skos:broadMatch ICD10:C22.0 Unspecified -Orphanet:401920 Fibrolamellar hepatocellular carcinoma skos:exactMatch UMLS:C0334287 Unspecified -Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1854058 Unspecified -Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:182980 Unspecified -Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1866777 Unspecified -Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 Unspecified -Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy skos:exactMatch OMIM:182980 Unspecified -Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy skos:exactMatch UMLS:C1866777 Unspecified -Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy skos:exactMatch UMLS:C1854058 Unspecified -Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy skos:broadMatch ICD10:G12.1 Unspecified -Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref UMLS:C0268186 Unspecified -Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref MedDRA:10066388 Unspecified -Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref ICD10:E74.3 Unspecified -Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref OMIM:606824 Unspecified -Orphanet:35710 Glucose-galactose malabsorption skos:exactMatch OMIM:606824 Unspecified -Orphanet:35710 Glucose-galactose malabsorption skos:broadMatch ICD10:E74.3 Unspecified -Orphanet:35710 Glucose-galactose malabsorption skos:exactMatch MedDRA:10066388 Unspecified -Orphanet:35710 Glucose-galactose malabsorption skos:exactMatch UMLS:C0268186 Unspecified -Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 oboInOwl:hasDbXref OMIM:618000 Unspecified -Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 skos:exactMatch OMIM:618000 Unspecified -Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref MESH:D018268 Unspecified -Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref UMLS:C0206686 Unspecified -Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref MedDRA:10001388 Unspecified -Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref ICD10:C74.0 Unspecified -Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref OMIM:202300 Unspecified -Orphanet:1501 Adrenocortical carcinoma skos:exactMatch ICD10:C74.0 Unspecified -Orphanet:1501 Adrenocortical carcinoma skos:exactMatch MedDRA:10001388 Unspecified -Orphanet:1501 Adrenocortical carcinoma skos:narrowMatch OMIM:202300 Unspecified -Orphanet:1501 Adrenocortical carcinoma skos:exactMatch MESH:D018268 Unspecified -Orphanet:1501 Adrenocortical carcinoma skos:exactMatch UMLS:C0206686 Unspecified -Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome oboInOwl:hasDbXref OMIM:616917 Unspecified -Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome skos:narrowMatch OMIM:616917 Unspecified -Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOwl:hasDbXref OMIM:618150 Unspecified -Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOwl:hasDbXref ICD10:Q78.8 Unspecified -Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:broadMatch ICD10:Q78.8 Unspecified -Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:exactMatch OMIM:618150 Unspecified -Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref OMIM:228020 Unspecified -Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref ICD10:L98.8 Unspecified -Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref OMIM:184900 Unspecified -Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref UMLS:C1861456 Unspecified -Orphanet:2833 Stiff skin syndrome skos:exactMatch UMLS:C1861456 Unspecified -Orphanet:2833 Stiff skin syndrome skos:narrowMatch OMIM:228020 Unspecified -Orphanet:2833 Stiff skin syndrome skos:broadMatch ICD10:L98.8 Unspecified -Orphanet:2833 Stiff skin syndrome skos:exactMatch OMIM:184900 Unspecified -Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref UMLS:C1868581 Unspecified -Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref OMIM:147891 Unspecified -Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref UMLS:C1840061 Unspecified -Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref ICD10:Q74.1 Unspecified -Orphanet:1509 Coxopodopatellar syndrome skos:broadMatch ICD10:Q74.1 Unspecified -Orphanet:1509 Coxopodopatellar syndrome skos:exactMatch UMLS:C1868581 Unspecified -Orphanet:1509 Coxopodopatellar syndrome skos:exactMatch UMLS:C1840061 Unspecified -Orphanet:1509 Coxopodopatellar syndrome skos:exactMatch OMIM:147891 Unspecified -Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:607658 Unspecified -Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C1843285 Unspecified -Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch UMLS:C1843285 Unspecified -Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch OMIM:607658 Unspecified -Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref UMLS:C0796122 Unspecified -Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref MESH:C536317 Unspecified -Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref UMLS:C1850055 Unspecified -Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref OMIM:260565 Unspecified -Orphanet:2836 PEHO syndrome skos:exactMatch OMIM:260565 Unspecified -Orphanet:2836 PEHO syndrome skos:exactMatch UMLS:C1850055 Unspecified -Orphanet:2836 PEHO syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:2836 PEHO syndrome skos:exactMatch UMLS:C0796122 Unspecified -Orphanet:2836 PEHO syndrome skos:exactMatch MESH:C536317 Unspecified -Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref MESH:D045169 Unspecified -Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref MedDRA:10061982 Unspecified -Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref UMLS:C1175175 Unspecified -Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref ICD10:U04.9 Unspecified -Orphanet:140896 Severe acute respiratory syndrome skos:exactMatch ICD10:U04.9 Unspecified -Orphanet:140896 Severe acute respiratory syndrome skos:exactMatch UMLS:C1175175 Unspecified -Orphanet:140896 Severe acute respiratory syndrome skos:exactMatch MESH:D045169 Unspecified -Orphanet:140896 Severe acute respiratory syndrome skos:exactMatch MedDRA:10061982 Unspecified -Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref UMLS:C3472614 Unspecified -Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref MedDRA:10065039 Unspecified -Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref ICD10:C83.3 Unspecified -Orphanet:289666 Plasmablastic lymphoma skos:exactMatch MedDRA:10065039 Unspecified -Orphanet:289666 Plasmablastic lymphoma skos:broadMatch ICD10:C83.3 Unspecified -Orphanet:289666 Plasmablastic lymphoma skos:exactMatch UMLS:C3472614 Unspecified -Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref ICD10:C83.3 Unspecified -Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:broadMatch ICD10:C83.3 Unspecified -Orphanet:487 Krabbe disease oboInOwl:hasDbXref UMLS:C0023521 Unspecified -Orphanet:487 Krabbe disease oboInOwl:hasDbXref OMIM:611722 Unspecified -Orphanet:487 Krabbe disease oboInOwl:hasDbXref OMIM:245200 Unspecified -Orphanet:487 Krabbe disease oboInOwl:hasDbXref MedDRA:10023492 Unspecified -Orphanet:487 Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:487 Krabbe disease skos:exactMatch UMLS:C0023521 Unspecified -Orphanet:487 Krabbe disease skos:exactMatch OMIM:245200 Unspecified -Orphanet:487 Krabbe disease skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:487 Krabbe disease skos:narrowMatch OMIM:611722 Unspecified -Orphanet:487 Krabbe disease skos:exactMatch MedDRA:10023492 Unspecified -Orphanet:56425 Cold agglutinin disease oboInOwl:hasDbXref UMLS:C0175816 Unspecified -Orphanet:56425 Cold agglutinin disease oboInOwl:hasDbXref ICD10:D59.1 Unspecified -Orphanet:56425 Cold agglutinin disease skos:exactMatch UMLS:C0175816 Unspecified -Orphanet:56425 Cold agglutinin disease skos:broadMatch ICD10:D59.1 Unspecified -Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:618752 Unspecified -Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:202700 Unspecified -Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:257100 Unspecified -Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:613107 Unspecified -Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref ICD10:D70 Unspecified -Orphanet:486 Autosomal dominant severe congenital neutropenia skos:narrowMatch OMIM:618752 Unspecified -Orphanet:486 Autosomal dominant severe congenital neutropenia skos:narrowMatch OMIM:257100 Unspecified -Orphanet:486 Autosomal dominant severe congenital neutropenia skos:broadMatch ICD10:D70 Unspecified -Orphanet:486 Autosomal dominant severe congenital neutropenia skos:narrowMatch OMIM:613107 Unspecified -Orphanet:486 Autosomal dominant severe congenital neutropenia skos:exactMatch OMIM:202700 Unspecified -Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref MedDRA:10053176 Unspecified -Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref ICD10:D70 Unspecified -Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref UMLS:C0221023 Unspecified -Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref OMIM:162800 Unspecified -Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref MESH:C536227 Unspecified -Orphanet:2686 Cyclic neutropenia skos:broadMatch ICD10:D70 Unspecified -Orphanet:2686 Cyclic neutropenia skos:exactMatch MESH:C536227 Unspecified -Orphanet:2686 Cyclic neutropenia skos:exactMatch OMIM:162800 Unspecified -Orphanet:2686 Cyclic neutropenia skos:exactMatch UMLS:C0221023 Unspecified -Orphanet:2686 Cyclic neutropenia skos:exactMatch MedDRA:10053176 Unspecified -Orphanet:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref UMLS:C1842930 Unspecified -Orphanet:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref ICD10:D70 Unspecified -Orphanet:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref OMIM:607847 Unspecified -Orphanet:2688 Adult idiopathic neutropenia skos:exactMatch OMIM:607847 Unspecified -Orphanet:2688 Adult idiopathic neutropenia skos:broadMatch ICD10:D70 Unspecified -Orphanet:2688 Adult idiopathic neutropenia skos:exactMatch UMLS:C1842930 Unspecified -Orphanet:481 Kennedy disease oboInOwl:hasDbXref UMLS:C0393547 Unspecified -Orphanet:481 Kennedy disease oboInOwl:hasDbXref UMLS:C0752353 Unspecified -Orphanet:481 Kennedy disease oboInOwl:hasDbXref UMLS:C1839259 Unspecified -Orphanet:481 Kennedy disease oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:481 Kennedy disease oboInOwl:hasDbXref OMIM:313200 Unspecified -Orphanet:481 Kennedy disease oboInOwl:hasDbXref MedDRA:10068600 Unspecified -Orphanet:481 Kennedy disease skos:exactMatch MedDRA:10068600 Unspecified -Orphanet:481 Kennedy disease skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:481 Kennedy disease skos:exactMatch UMLS:C1839259 Unspecified -Orphanet:481 Kennedy disease skos:exactMatch UMLS:C0752353 Unspecified -Orphanet:481 Kennedy disease skos:exactMatch OMIM:313200 Unspecified -Orphanet:481 Kennedy disease skos:exactMatch UMLS:C0393547 Unspecified -Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref MedDRA:10048804 Unspecified -Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref ICD10:H49.8 Unspecified -Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref OMIM:530000 Unspecified -Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref UMLS:C0022541 Unspecified -Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref MESH:D007625 Unspecified -Orphanet:480 Kearns-Sayre syndrome skos:exactMatch MESH:D007625 Unspecified -Orphanet:480 Kearns-Sayre syndrome skos:exactMatch MedDRA:10048804 Unspecified -Orphanet:480 Kearns-Sayre syndrome skos:exactMatch UMLS:C0022541 Unspecified -Orphanet:480 Kearns-Sayre syndrome skos:exactMatch OMIM:530000 Unspecified -Orphanet:480 Kearns-Sayre syndrome skos:broadMatch ICD10:H49.8 Unspecified -Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref OMIM:601536 Unspecified -Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ICD10:G96.8 Unspecified -Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref MESH:C535397 Unspecified -Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref UMLS:C1832215 Unspecified -Orphanet:69739 Athabaskan brainstem dysgenesis syndrome skos:exactMatch MESH:C535397 Unspecified -Orphanet:69739 Athabaskan brainstem dysgenesis syndrome skos:exactMatch UMLS:C1832215 Unspecified -Orphanet:69739 Athabaskan brainstem dysgenesis syndrome skos:broadMatch ICD10:G96.8 Unspecified -Orphanet:69739 Athabaskan brainstem dysgenesis syndrome skos:exactMatch OMIM:601536 Unspecified -Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref UMLS:C0272340 Unspecified -Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref ICD10:D68.8 Unspecified -Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref OMIM:228960 Unspecified -Orphanet:483 Congenital high-molecular-weight kininogen deficiency skos:exactMatch OMIM:228960 Unspecified -Orphanet:483 Congenital high-molecular-weight kininogen deficiency skos:exactMatch UMLS:C0272340 Unspecified -Orphanet:483 Congenital high-molecular-weight kininogen deficiency skos:broadMatch ICD10:D68.8 Unspecified -Orphanet:482 Kimura disease oboInOwl:hasDbXref MESH:D000796 Unspecified -Orphanet:482 Kimura disease oboInOwl:hasDbXref UMLS:C0033838 Unspecified -Orphanet:482 Kimura disease oboInOwl:hasDbXref ICD10:I89.8 Unspecified -Orphanet:482 Kimura disease oboInOwl:hasDbXref MedDRA:10048640 Unspecified -Orphanet:482 Kimura disease skos:exactMatch MedDRA:10048640 Unspecified -Orphanet:482 Kimura disease skos:exactMatch MESH:D000796 Unspecified -Orphanet:482 Kimura disease skos:exactMatch UMLS:C0033838 Unspecified -Orphanet:482 Kimura disease skos:broadMatch ICD10:I89.8 Unspecified -Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref UMLS:C0265279 Unspecified -Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref OMIM:156550 Unspecified -Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref MESH:C537207 Unspecified -Orphanet:485 Kniest dysplasia skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:485 Kniest dysplasia skos:exactMatch MESH:C537207 Unspecified -Orphanet:485 Kniest dysplasia skos:exactMatch OMIM:156550 Unspecified -Orphanet:485 Kniest dysplasia skos:exactMatch UMLS:C0265279 Unspecified -Orphanet:90340 Blau syndrome oboInOwl:hasDbXref MedDRA:10071755 Unspecified -Orphanet:90340 Blau syndrome oboInOwl:hasDbXref OMIM:186580 Unspecified -Orphanet:90340 Blau syndrome oboInOwl:hasDbXref UMLS:C1861303 Unspecified -Orphanet:90340 Blau syndrome oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:90340 Blau syndrome skos:exactMatch OMIM:186580 Unspecified -Orphanet:90340 Blau syndrome skos:exactMatch UMLS:C1861303 Unspecified -Orphanet:90340 Blau syndrome skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:90340 Blau syndrome skos:exactMatch MedDRA:10071755 Unspecified -Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref UMLS:C0432328 Unspecified -Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref UMLS:C1848410 Unspecified -Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref ICD10:Q82.1 Unspecified -Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref MESH:C536766 Unspecified -Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref OMIM:278750 Unspecified -Orphanet:90342 Xeroderma pigmentosum variant skos:exactMatch MESH:C536766 Unspecified -Orphanet:90342 Xeroderma pigmentosum variant skos:broadMatch ICD10:Q82.1 Unspecified -Orphanet:90342 Xeroderma pigmentosum variant skos:exactMatch OMIM:278750 Unspecified -Orphanet:90342 Xeroderma pigmentosum variant skos:exactMatch UMLS:C1848410 Unspecified -Orphanet:90342 Xeroderma pigmentosum variant skos:exactMatch UMLS:C0432328 Unspecified -Orphanet:1359 Carney complex oboInOwl:hasDbXref OMIM:160980 Unspecified -Orphanet:1359 Carney complex oboInOwl:hasDbXref OMIM:605244 Unspecified -Orphanet:1359 Carney complex oboInOwl:hasDbXref MESH:D056733 Unspecified -Orphanet:1359 Carney complex oboInOwl:hasDbXref UMLS:C2607929 Unspecified -Orphanet:1359 Carney complex oboInOwl:hasDbXref UMLS:C0406810 Unspecified -Orphanet:1359 Carney complex oboInOwl:hasDbXref ICD10:D44.8 Unspecified -Orphanet:1359 Carney complex skos:broadMatch ICD10:D44.8 Unspecified -Orphanet:1359 Carney complex skos:exactMatch UMLS:C2607929 Unspecified -Orphanet:1359 Carney complex skos:exactMatch MESH:D056733 Unspecified -Orphanet:1359 Carney complex skos:narrowMatch OMIM:605244 Unspecified -Orphanet:1359 Carney complex skos:exactMatch UMLS:C0406810 Unspecified -Orphanet:1359 Carney complex skos:narrowMatch OMIM:160980 Unspecified -Orphanet:324321 Sinoatrial node dysfunction and deafness oboInOwl:hasDbXref OMIM:614896 Unspecified -Orphanet:324321 Sinoatrial node dysfunction and deafness oboInOwl:hasDbXref ICD10:H91.8 Unspecified -Orphanet:324321 Sinoatrial node dysfunction and deafness skos:exactMatch OMIM:614896 Unspecified -Orphanet:324321 Sinoatrial node dysfunction and deafness skos:broadMatch ICD10:H91.8 Unspecified -Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref OMIM:219100 Unspecified -Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref OMIM:614437 Unspecified -Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref UMLS:C0432336 Unspecified -Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref UMLS:C0268351 Unspecified -Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:90349 Autosomal recessive cutis laxa type 1 skos:exactMatch UMLS:C0432336 Unspecified -Orphanet:90349 Autosomal recessive cutis laxa type 1 skos:exactMatch UMLS:C0268351 Unspecified -Orphanet:90349 Autosomal recessive cutis laxa type 1 skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:90349 Autosomal recessive cutis laxa type 1 skos:narrowMatch OMIM:614437 Unspecified -Orphanet:90349 Autosomal recessive cutis laxa type 1 skos:narrowMatch OMIM:219100 Unspecified -Orphanet:69736 Bilateral acute depigmentation of the iris oboInOwl:hasDbXref ICD10:Q13.8 Unspecified -Orphanet:69736 Bilateral acute depigmentation of the iris skos:broadMatch ICD10:Q13.8 Unspecified -Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:123700 Unspecified -Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref UMLS:C0268350 Unspecified -Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:614434 Unspecified -Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:616603 Unspecified -Orphanet:90348 Autosomal dominant cutis laxa skos:exactMatch UMLS:C0268350 Unspecified -Orphanet:90348 Autosomal dominant cutis laxa skos:narrowMatch OMIM:123700 Unspecified -Orphanet:90348 Autosomal dominant cutis laxa skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:90348 Autosomal dominant cutis laxa skos:narrowMatch OMIM:616603 Unspecified -Orphanet:90348 Autosomal dominant cutis laxa skos:narrowMatch OMIM:614434 Unspecified -Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref OMIM:607823 Unspecified -Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref OMIM:137940 Unspecified -Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:narrowMatch OMIM:607823 Unspecified -Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:narrowMatch OMIM:137940 Unspecified -Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation oboInOwl:hasDbXref OMIM:614468 Unspecified -Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation oboInOwl:hasDbXref ICD10:L50.2 Unspecified -Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation skos:broadMatch ICD10:L50.2 Unspecified -Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch OMIM:614468 Unspecified -Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref UMLS:C1850406 Unspecified -Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref OMIM:256810 Unspecified -Orphanet:255229 Navajo neurohepatopathy skos:exactMatch UMLS:C1850406 Unspecified -Orphanet:255229 Navajo neurohepatopathy skos:exactMatch OMIM:256810 Unspecified -Orphanet:255229 Navajo neurohepatopathy skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:276174 Idiopathic recurrent stupor oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:276174 Idiopathic recurrent stupor skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome oboInOwl:hasDbXref ICD10:D82.8 Unspecified -Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome skos:broadMatch ICD10:D82.8 Unspecified -Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref OMIM:605309 Unspecified -Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref UMLS:C1854416 Unspecified -Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref OMIM:613926 Unspecified -Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome skos:narrowMatch OMIM:613926 Unspecified -Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome skos:exactMatch UMLS:C1854416 Unspecified -Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome skos:exactMatch OMIM:605309 Unspecified -Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref UMLS:C2931092 Unspecified -Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref OMIM:256000 Unspecified -Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome skos:exactMatch UMLS:C2931092 Unspecified -Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome skos:broadMatch OMIM:256000 Unspecified -Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:477 KID syndrome oboInOwl:hasDbXref OMIM:602540 Unspecified -Orphanet:477 KID syndrome oboInOwl:hasDbXref UMLS:C0265336 Unspecified -Orphanet:477 KID syndrome oboInOwl:hasDbXref MedDRA:10048786 Unspecified -Orphanet:477 KID syndrome oboInOwl:hasDbXref UMLS:C3665333 Unspecified -Orphanet:477 KID syndrome oboInOwl:hasDbXref ICD10:Q80.8 Unspecified -Orphanet:477 KID syndrome oboInOwl:hasDbXref OMIM:242150 Unspecified -Orphanet:477 KID syndrome oboInOwl:hasDbXref OMIM:148210 Unspecified -Orphanet:477 KID syndrome skos:exactMatch OMIM:148210 Unspecified -Orphanet:477 KID syndrome skos:narrowMatch OMIM:242150 Unspecified -Orphanet:477 KID syndrome skos:broadMatch ICD10:Q80.8 Unspecified -Orphanet:477 KID syndrome skos:exactMatch UMLS:C3665333 Unspecified -Orphanet:477 KID syndrome skos:narrowMatch OMIM:602540 Unspecified -Orphanet:477 KID syndrome skos:exactMatch UMLS:C0265336 Unspecified -Orphanet:477 KID syndrome skos:exactMatch MedDRA:10048786 Unspecified -Orphanet:529468 Monoclonal mast cell activation syndrome oboInOwl:hasDbXref ICD10:C94.3 Unspecified -Orphanet:529468 Monoclonal mast cell activation syndrome skos:broadMatch ICD10:C94.3 Unspecified -Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref OMIM:149200 Unspecified -Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref UMLS:C0266004 Unspecified -Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome skos:exactMatch OMIM:149200 Unspecified -Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome skos:exactMatch UMLS:C0266004 Unspecified -Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref MedDRA:10058300 Unspecified -Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref ICD10:E72.0 Unspecified -Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref OMIM:222700 Unspecified -Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref UMLS:C0268647 Unspecified -Orphanet:470 Lysinuric protein intolerance skos:exactMatch UMLS:C0268647 Unspecified -Orphanet:470 Lysinuric protein intolerance skos:broadMatch ICD10:E72.0 Unspecified -Orphanet:470 Lysinuric protein intolerance skos:exactMatch OMIM:222700 Unspecified -Orphanet:470 Lysinuric protein intolerance skos:exactMatch MedDRA:10058300 Unspecified -Orphanet:472 Isosporiasis oboInOwl:hasDbXref MESH:D021865 Unspecified -Orphanet:472 Isosporiasis oboInOwl:hasDbXref ICD10:A07.3 Unspecified -Orphanet:472 Isosporiasis oboInOwl:hasDbXref MedDRA:10023076 Unspecified -Orphanet:472 Isosporiasis oboInOwl:hasDbXref UMLS:C0311386 Unspecified -Orphanet:472 Isosporiasis skos:exactMatch MedDRA:10023076 Unspecified -Orphanet:472 Isosporiasis skos:exactMatch UMLS:C0311386 Unspecified -Orphanet:472 Isosporiasis skos:exactMatch ICD10:A07.3 Unspecified -Orphanet:472 Isosporiasis skos:exactMatch MESH:D021865 Unspecified -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref UMLS:C1859317 Unspecified -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref MESH:C538280 Unspecified -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref OMIM:212350 Unspecified -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref OMIM:615418 Unspecified -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome skos:exactMatch OMIM:212350 Unspecified -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome skos:narrowMatch OMIM:615418 Unspecified -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome skos:exactMatch MESH:C538280 Unspecified -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome skos:exactMatch UMLS:C1859317 Unspecified -Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref UMLS:C0796123 Unspecified -Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref MESH:C538283 Unspecified -Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref OMIM:212710 Unspecified -Orphanet:1368 Cataract-ataxia-deafness syndrome skos:exactMatch OMIM:212710 Unspecified -Orphanet:1368 Cataract-ataxia-deafness syndrome skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:1368 Cataract-ataxia-deafness syndrome skos:exactMatch MESH:C538283 Unspecified -Orphanet:1368 Cataract-ataxia-deafness syndrome skos:exactMatch UMLS:C0796123 Unspecified -Orphanet:252183 Neurofibroma oboInOwl:hasDbXref ICD10:D36.1 Unspecified -Orphanet:252183 Neurofibroma oboInOwl:hasDbXref MedDRA:10029267 Unspecified -Orphanet:252183 Neurofibroma oboInOwl:hasDbXref UMLS:C0027830 Unspecified -Orphanet:252183 Neurofibroma skos:exactMatch UMLS:C0027830 Unspecified -Orphanet:252183 Neurofibroma skos:broadMatch ICD10:D36.1 Unspecified -Orphanet:252183 Neurofibroma skos:exactMatch MedDRA:10029267 Unspecified -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref MESH:C535336 Unspecified -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref UMLS:C1859316 Unspecified -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref OMIM:212360 Unspecified -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q84.0 Unspecified -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch OMIM:212360 Unspecified -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch MESH:C535336 Unspecified -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia skos:broadMatch ICD10:Q84.0 Unspecified -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch UMLS:C1859316 Unspecified -Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref UMLS:C1850718 Unspecified -Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref OMIM:255125 Unspecified -Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch UMLS:C1850718 Unspecified -Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch OMIM:255125 Unspecified -Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome oboInOwl:hasDbXref OMIM:300858 Unspecified -Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome skos:exactMatch OMIM:300858 Unspecified -Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref MedDRA:10069461 Unspecified -Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref OMIM:276710 Unspecified -Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref ICD10:E70.2 Unspecified -Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref UMLS:C0268623 Unspecified -Orphanet:69723 Tyrosinemia type 3 skos:broadMatch ICD10:E70.2 Unspecified -Orphanet:69723 Tyrosinemia type 3 skos:exactMatch MedDRA:10069461 Unspecified -Orphanet:69723 Tyrosinemia type 3 skos:exactMatch OMIM:276710 Unspecified -Orphanet:69723 Tyrosinemia type 3 skos:exactMatch UMLS:C0268623 Unspecified -Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref ICD10:G90.8 Unspecified -Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref MedDRA:10040108 Unspecified -Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref MESH:D020230 Unspecified -Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref UMLS:C0699828 Unspecified -Orphanet:43116 Serotonin syndrome skos:exactMatch MESH:D020230 Unspecified -Orphanet:43116 Serotonin syndrome skos:exactMatch UMLS:C0699828 Unspecified -Orphanet:43116 Serotonin syndrome skos:broadMatch ICD10:G90.8 Unspecified -Orphanet:43116 Serotonin syndrome skos:exactMatch MedDRA:10040108 Unspecified -Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref OMIM:606353 Unspecified -Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref UMLS:C1853396 Unspecified -Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref MESH:C536416 Unspecified -Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 Unspecified -Orphanet:247604 Juvenile primary lateral sclerosis skos:broadMatch ICD10:G12.2 Unspecified -Orphanet:247604 Juvenile primary lateral sclerosis skos:exactMatch MESH:C536416 Unspecified -Orphanet:247604 Juvenile primary lateral sclerosis skos:exactMatch UMLS:C1853396 Unspecified -Orphanet:247604 Juvenile primary lateral sclerosis skos:exactMatch OMIM:606353 Unspecified -Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref OMIM:607426 Unspecified -Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref OMIM:614652 Unspecified -Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:255249 Leigh syndrome with nephrotic syndrome skos:narrowMatch OMIM:607426 Unspecified -Orphanet:255249 Leigh syndrome with nephrotic syndrome skos:narrowMatch OMIM:614652 Unspecified -Orphanet:255249 Leigh syndrome with nephrotic syndrome skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:57777 Cirrhotic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 Unspecified -Orphanet:57777 Cirrhotic cardiomyopathy skos:broadMatch ICD10:I42.8 Unspecified -Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:D11.7 Unspecified -Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:D11.0 Unspecified -Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref OMIM:181030 Unspecified -Orphanet:276148 Benign epithelial tumor of salivary glands skos:narrowMatch ICD10:D11.7 Unspecified -Orphanet:276148 Benign epithelial tumor of salivary glands skos:narrowMatch OMIM:181030 Unspecified -Orphanet:276148 Benign epithelial tumor of salivary glands skos:narrowMatch ICD10:D11.0 Unspecified -Orphanet:31142 Oral erosive lichen oboInOwl:hasDbXref ICD10:L43.8 Unspecified -Orphanet:31142 Oral erosive lichen skos:broadMatch ICD10:L43.8 Unspecified -Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref OMIM:615206 Unspecified -Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref ICD10:D81.2 Unspecified -Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch OMIM:615206 Unspecified -Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency skos:broadMatch ICD10:D81.2 Unspecified -Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C07 Unspecified -Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.1 Unspecified -Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.8 Unspecified -Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.0 Unspecified -Orphanet:276145 Malignant epithelial tumor of salivary glands skos:narrowMatch ICD10:C08.1 Unspecified -Orphanet:276145 Malignant epithelial tumor of salivary glands skos:narrowMatch ICD10:C07 Unspecified -Orphanet:276145 Malignant epithelial tumor of salivary glands skos:narrowMatch ICD10:C08.8 Unspecified -Orphanet:276145 Malignant epithelial tumor of salivary glands skos:narrowMatch ICD10:C08.0 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:616277 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618257 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618244 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618248 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618239 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618233 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618235 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618240 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618228 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618222 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618226 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618224 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:256000 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618243 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618249 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618241 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618229 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618225 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618230 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:252010 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:252010 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618230 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618229 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618225 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618241 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618243 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618249 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:616277 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618226 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618228 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618222 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618224 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618244 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618240 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618239 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618233 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618235 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618248 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618257 Unspecified -Orphanet:255241 Leigh syndrome with leukodystrophy skos:broadMatch OMIM:256000 Unspecified -Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref UMLS:C0878682 Unspecified -Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref OMIM:604290 Unspecified -Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref ICD10:E83.1 Unspecified -Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref MESH:C536004 Unspecified -Orphanet:48818 Aceruloplasminemia skos:exactMatch MESH:C536004 Unspecified -Orphanet:48818 Aceruloplasminemia skos:broadMatch ICD10:E83.1 Unspecified -Orphanet:48818 Aceruloplasminemia skos:exactMatch OMIM:604290 Unspecified -Orphanet:48818 Aceruloplasminemia skos:exactMatch UMLS:C0878682 Unspecified -Orphanet:300373 X-linked acrogigantism oboInOwl:hasDbXref OMIM:300942 Unspecified -Orphanet:300373 X-linked acrogigantism oboInOwl:hasDbXref ICD10:E22.0 Unspecified -Orphanet:300373 X-linked acrogigantism skos:narrowMatch OMIM:300942 Unspecified -Orphanet:300373 X-linked acrogigantism skos:broadMatch ICD10:E22.0 Unspecified -Orphanet:100924 Porphyria due to ALA dehydratase deficiency oboInOwl:hasDbXref ICD10:E80.2 Unspecified -Orphanet:100924 Porphyria due to ALA dehydratase deficiency oboInOwl:hasDbXref OMIM:612740 Unspecified -Orphanet:100924 Porphyria due to ALA dehydratase deficiency skos:exactMatch OMIM:612740 Unspecified -Orphanet:100924 Porphyria due to ALA dehydratase deficiency skos:broadMatch ICD10:E80.2 Unspecified -Orphanet:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref UMLS:C1970712 Unspecified -Orphanet:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref ICD10:D44.8 Unspecified -Orphanet:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref OMIM:610755 Unspecified -Orphanet:276152 Multiple endocrine neoplasia type 4 skos:exactMatch UMLS:C1970712 Unspecified -Orphanet:276152 Multiple endocrine neoplasia type 4 skos:exactMatch OMIM:610755 Unspecified -Orphanet:276152 Multiple endocrine neoplasia type 4 skos:broadMatch ICD10:D44.8 Unspecified -Orphanet:499 Kerion celsi oboInOwl:hasDbXref UMLS:C0276742 Unspecified -Orphanet:499 Kerion celsi oboInOwl:hasDbXref MESH:C536165 Unspecified -Orphanet:499 Kerion celsi oboInOwl:hasDbXref ICD10:B35.0 Unspecified -Orphanet:499 Kerion celsi skos:exactMatch UMLS:C0276742 Unspecified -Orphanet:499 Kerion celsi skos:broadMatch ICD10:B35.0 Unspecified -Orphanet:499 Kerion celsi skos:exactMatch MESH:C536165 Unspecified -Orphanet:357220 Primary essential cutis verticis gyrata oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:357220 Primary essential cutis verticis gyrata skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref OMIM:612075 Unspecified -Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy skos:exactMatch OMIM:612075 Unspecified -Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:31150 Tangier disease oboInOwl:hasDbXref MESH:D013631 Unspecified -Orphanet:31150 Tangier disease oboInOwl:hasDbXref ICD10:E78.6 Unspecified -Orphanet:31150 Tangier disease oboInOwl:hasDbXref OMIM:205400 Unspecified -Orphanet:31150 Tangier disease oboInOwl:hasDbXref UMLS:C0039292 Unspecified -Orphanet:31150 Tangier disease oboInOwl:hasDbXref MedDRA:10051875 Unspecified -Orphanet:31150 Tangier disease skos:broadMatch ICD10:E78.6 Unspecified -Orphanet:31150 Tangier disease skos:exactMatch MedDRA:10051875 Unspecified -Orphanet:31150 Tangier disease skos:exactMatch MESH:D013631 Unspecified -Orphanet:31150 Tangier disease skos:exactMatch OMIM:205400 Unspecified -Orphanet:31150 Tangier disease skos:exactMatch UMLS:C0039292 Unspecified -Orphanet:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:357225 Primary non-essential cutis verticis gyrata skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:492 Proliferating trichilemmal cyst oboInOwl:hasDbXref ICD10:L72.1 Unspecified -Orphanet:492 Proliferating trichilemmal cyst skos:broadMatch ICD10:L72.1 Unspecified -Orphanet:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref OMIM:124500 Unspecified -Orphanet:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref UMLS:C0265964 Unspecified -Orphanet:494 Keratoderma hereditarium mutilans skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:494 Keratoderma hereditarium mutilans skos:exactMatch OMIM:124500 Unspecified -Orphanet:494 Keratoderma hereditarium mutilans skos:exactMatch UMLS:C0265964 Unspecified -Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref OMIM:615957 Unspecified -Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:423296 Spinocerebellar ataxia type 38 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:423296 Spinocerebellar ataxia type 38 skos:exactMatch OMIM:615957 Unspecified -Orphanet:493 Familial keratoacanthoma oboInOwl:hasDbXref UMLS:C0546476 Unspecified -Orphanet:493 Familial keratoacanthoma oboInOwl:hasDbXref ICD10:L85.8 Unspecified -Orphanet:493 Familial keratoacanthoma skos:broadMatch ICD10:L85.8 Unspecified -Orphanet:493 Familial keratoacanthoma skos:exactMatch UMLS:C0546476 Unspecified -Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1851480 Unspecified -Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1851479 Unspecified -Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref OMIM:133200 Unspecified -Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma skos:broadMatch OMIM:133200 Unspecified -Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma skos:exactMatch UMLS:C1851479 Unspecified -Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma skos:exactMatch UMLS:C1851480 Unspecified -Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref MedDRA:10068856 Unspecified -Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref UMLS:C0334063 Unspecified -Orphanet:69745 Warty dyskeratoma skos:exactMatch MedDRA:10068856 Unspecified -Orphanet:69745 Warty dyskeratoma skos:exactMatch UMLS:C0334063 Unspecified -Orphanet:300385 Pituitary carcinoma oboInOwl:hasDbXref UMLS:C0346300 Unspecified -Orphanet:300385 Pituitary carcinoma oboInOwl:hasDbXref ICD10:C75.1 Unspecified -Orphanet:300385 Pituitary carcinoma skos:exactMatch UMLS:C0346300 Unspecified -Orphanet:300385 Pituitary carcinoma skos:broadMatch ICD10:C75.1 Unspecified -Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome oboInOwl:hasDbXref OMIM:616914 Unspecified -Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome skos:exactMatch OMIM:616914 Unspecified -Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref OMIM:136000 Unspecified -Orphanet:289465 Isolated congenital adermatoglyphia skos:exactMatch OMIM:136000 Unspecified -Orphanet:289465 Isolated congenital adermatoglyphia skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref ICD10:Q84.0 Unspecified -Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref OMIM:612841 Unspecified -Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref UMLS:C2931059 Unspecified -Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref OMIM:146550 Unspecified -Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref MESH:C535912 Unspecified -Orphanet:444 Marie Unna hereditary hypotrichosis skos:exactMatch MESH:C535912 Unspecified -Orphanet:444 Marie Unna hereditary hypotrichosis skos:narrowMatch OMIM:612841 Unspecified -Orphanet:444 Marie Unna hereditary hypotrichosis skos:exactMatch UMLS:C2931059 Unspecified -Orphanet:444 Marie Unna hereditary hypotrichosis skos:broadMatch ICD10:Q84.0 Unspecified -Orphanet:444 Marie Unna hereditary hypotrichosis skos:narrowMatch OMIM:146550 Unspecified -Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref MedDRA:10066948 Unspecified -Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref UMLS:C3714524 Unspecified -Orphanet:79105 Myxofibrosarcoma skos:exactMatch UMLS:C3714524 Unspecified -Orphanet:79105 Myxofibrosarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:79105 Myxofibrosarcoma skos:exactMatch MedDRA:10066948 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref MedDRA:10034042 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:615399 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref MESH:D006457 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ICD10:D59.5 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS:C0024790 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:300818 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria skos:narrowMatch OMIM:615399 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria skos:exactMatch OMIM:300818 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria skos:exactMatch ICD10:D59.5 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria skos:exactMatch UMLS:C0024790 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MESH:D006457 Unspecified -Orphanet:447 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MedDRA:10034042 Unspecified -Orphanet:300319 Charcot-Marie-Tooth disease type 2P oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:300319 Charcot-Marie-Tooth disease type 2P oboInOwl:hasDbXref OMIM:614436 Unspecified -Orphanet:300319 Charcot-Marie-Tooth disease type 2P skos:exactMatch OMIM:614436 Unspecified -Orphanet:300319 Charcot-Marie-Tooth disease type 2P skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref OMIM:231100 Unspecified -Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 Unspecified -Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref MESH:C536394 Unspecified -Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref UMLS:C0268059 Unspecified -Orphanet:446 Neonatal hemochromatosis skos:exactMatch UMLS:C0268059 Unspecified -Orphanet:446 Neonatal hemochromatosis skos:exactMatch MESH:C536394 Unspecified -Orphanet:446 Neonatal hemochromatosis skos:exactMatch OMIM:231100 Unspecified -Orphanet:446 Neonatal hemochromatosis skos:broadMatch ICD10:E83.1 Unspecified -Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref ICD10:C22.2 Unspecified -Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref UMLS:C0206624 Unspecified -Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref OMIM:114550 Unspecified -Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref MedDRA:10062001 Unspecified -Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref MESH:D018197 Unspecified -Orphanet:449 Hepatoblastoma skos:exactMatch MedDRA:10062001 Unspecified -Orphanet:449 Hepatoblastoma skos:broadMatch OMIM:114550 Unspecified -Orphanet:449 Hepatoblastoma skos:exactMatch MESH:D018197 Unspecified -Orphanet:449 Hepatoblastoma skos:exactMatch UMLS:C0206624 Unspecified -Orphanet:449 Hepatoblastoma skos:exactMatch ICD10:C22.2 Unspecified -Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref MESH:D051302 Unspecified -Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref UMLS:C1399352 Unspecified -Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref ICD10:G44.0 Unspecified -Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref MedDRA:10019461 Unspecified -Orphanet:157835 Paroxysmal hemicrania skos:broadMatch ICD10:G44.0 Unspecified -Orphanet:157835 Paroxysmal hemicrania skos:exactMatch MedDRA:10019461 Unspecified -Orphanet:157835 Paroxysmal hemicrania skos:exactMatch UMLS:C1399352 Unspecified -Orphanet:157835 Paroxysmal hemicrania skos:exactMatch MESH:D051302 Unspecified -Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref OMIM:610042 Unspecified -Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref UMLS:C1864887 Unspecified -Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:Q04.8 Unspecified -Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy skos:broadMatch ICD10:Q04.8 Unspecified -Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy skos:exactMatch UMLS:C1864887 Unspecified -Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy skos:exactMatch OMIM:610042 Unspecified -Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref ICD10:L66.4 Unspecified -Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref UMLS:C0263429 Unspecified -Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref OMIM:604093 Unspecified -Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref OMIM:209700 Unspecified -Orphanet:79100 Atrophoderma vermiculata skos:exactMatch UMLS:C0263429 Unspecified -Orphanet:79100 Atrophoderma vermiculata skos:exactMatch OMIM:209700 Unspecified -Orphanet:79100 Atrophoderma vermiculata skos:broadMatch ICD10:L66.4 Unspecified -Orphanet:79100 Atrophoderma vermiculata skos:broadMatch OMIM:604093 Unspecified -Orphanet:1314 Symmetrical thalamic calcifications oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:1314 Symmetrical thalamic calcifications skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome oboInOwl:hasDbXref OMIM:613724 Unspecified -Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome skos:exactMatch OMIM:613724 Unspecified -Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:1313 Infantile choroidocerebral calcification syndrome oboInOwl:hasDbXref OMIM:215480 Unspecified -Orphanet:1313 Infantile choroidocerebral calcification syndrome oboInOwl:hasDbXref UMLS:C1859092 Unspecified -Orphanet:1313 Infantile choroidocerebral calcification syndrome oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:1313 Infantile choroidocerebral calcification syndrome skos:exactMatch UMLS:C1859092 Unspecified -Orphanet:1313 Infantile choroidocerebral calcification syndrome skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:1313 Infantile choroidocerebral calcification syndrome skos:exactMatch OMIM:215480 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:614834 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref MedDRA:10043788 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:188580 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:613239 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref UMLS:C0268446 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis skos:narrowMatch OMIM:614834 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis skos:narrowMatch OMIM:613239 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis skos:broadMatch ICD10:G72.3 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis skos:narrowMatch OMIM:188580 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis skos:exactMatch MedDRA:10043788 Unspecified -Orphanet:79102 Thyrotoxic periodic paralysis skos:exactMatch UMLS:C0268446 Unspecified -Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref MESH:C544351 Unspecified -Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref UMLS:C0393911 Unspecified -Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref UMLS:C2931939 Unspecified -Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref ICD10:G90.3 Unspecified -Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref MESH:D054970 Unspecified -Orphanet:441 Pure autonomic failure skos:exactMatch UMLS:C0393911 Unspecified -Orphanet:441 Pure autonomic failure skos:broadMatch ICD10:G90.3 Unspecified -Orphanet:441 Pure autonomic failure skos:exactMatch MESH:C544351 Unspecified -Orphanet:441 Pure autonomic failure skos:exactMatch UMLS:C2931939 Unspecified -Orphanet:441 Pure autonomic failure skos:exactMatch MESH:D054970 Unspecified -Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref MedDRA:10058512 Unspecified -Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref MedDRA:10058514 Unspecified -Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref UMLS:C2931835 Unspecified -Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref ICD10:E72.5 Unspecified -Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref MESH:C538385 Unspecified -Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref OMIM:239510 Unspecified -Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref UMLS:C0268530 Unspecified -Orphanet:79101 Hyperprolinemia type 2 skos:exactMatch MedDRA:10058512 Unspecified -Orphanet:79101 Hyperprolinemia type 2 skos:exactMatch MedDRA:10058514 Unspecified -Orphanet:79101 Hyperprolinemia type 2 skos:exactMatch UMLS:C2931835 Unspecified -Orphanet:79101 Hyperprolinemia type 2 skos:broadMatch ICD10:E72.5 Unspecified -Orphanet:79101 Hyperprolinemia type 2 skos:exactMatch MESH:C538385 Unspecified -Orphanet:79101 Hyperprolinemia type 2 skos:exactMatch UMLS:C0268530 Unspecified -Orphanet:79101 Hyperprolinemia type 2 skos:exactMatch OMIM:239510 Unspecified -Orphanet:314962 Secondary hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 Unspecified -Orphanet:314962 Secondary hypereosinophilic syndrome skos:broadMatch ICD10:D47.5 Unspecified -Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref OMIM:614482 Unspecified -Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome skos:exactMatch OMIM:614482 Unspecified -Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:206489 Malignant germ cell tumor of the vagina oboInOwl:hasDbXref ICD10:C52 Unspecified -Orphanet:206489 Malignant germ cell tumor of the vagina skos:broadMatch ICD10:C52 Unspecified -Orphanet:199627 Atypical autism oboInOwl:hasDbXref ICD10:F84.1 Unspecified -Orphanet:199627 Atypical autism oboInOwl:hasDbXref MedDRA:10003747 Unspecified -Orphanet:199627 Atypical autism oboInOwl:hasDbXref UMLS:C0338986 Unspecified -Orphanet:199627 Atypical autism skos:exactMatch MedDRA:10003747 Unspecified -Orphanet:199627 Atypical autism skos:exactMatch UMLS:C0338986 Unspecified -Orphanet:199627 Atypical autism skos:exactMatch ICD10:F84.1 Unspecified -Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref OMIM:241510 Unspecified -Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref MESH:D007014 Unspecified -Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref UMLS:C0020630 Unspecified -Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 Unspecified -Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref OMIM:241500 Unspecified -Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref MedDRA:10049933 Unspecified -Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref OMIM:146300 Unspecified -Orphanet:436 Hypophosphatasia skos:exactMatch MedDRA:10049933 Unspecified -Orphanet:436 Hypophosphatasia skos:narrowMatch OMIM:241510 Unspecified -Orphanet:436 Hypophosphatasia skos:narrowMatch OMIM:146300 Unspecified -Orphanet:436 Hypophosphatasia skos:broadMatch ICD10:E83.3 Unspecified -Orphanet:436 Hypophosphatasia skos:exactMatch UMLS:C0020630 Unspecified -Orphanet:436 Hypophosphatasia skos:narrowMatch OMIM:241500 Unspecified -Orphanet:436 Hypophosphatasia skos:exactMatch MESH:D007014 Unspecified -Orphanet:157826 Congenital epulis oboInOwl:hasDbXref ICD10:K06.8 Unspecified -Orphanet:157826 Congenital epulis oboInOwl:hasDbXref UMLS:C0376319 Unspecified -Orphanet:157826 Congenital epulis skos:exactMatch UMLS:C0376319 Unspecified -Orphanet:157826 Congenital epulis skos:broadMatch ICD10:K06.8 Unspecified -Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome oboInOwl:hasDbXref ICD10:Q61.1 Unspecified -Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome oboInOwl:hasDbXref OMIM:610199 Unspecified -Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome skos:exactMatch OMIM:610199 Unspecified -Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome skos:broadMatch ICD10:Q61.1 Unspecified -Orphanet:206484 Gonadoblastoma oboInOwl:hasDbXref OMIM:424500 Unspecified -Orphanet:206484 Gonadoblastoma oboInOwl:hasDbXref ICD10:D39.1 Unspecified -Orphanet:206484 Gonadoblastoma skos:exactMatch OMIM:424500 Unspecified -Orphanet:206484 Gonadoblastoma skos:broadMatch ICD10:D39.1 Unspecified -Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187601 Unspecified -Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:156830 Unspecified -Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref MedDRA:10049808 Unspecified -Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref ICD10:Q77.1 Unspecified -Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187600 Unspecified -Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref UMLS:C0039743 Unspecified -Orphanet:2655 Thanatophoric dysplasia skos:exactMatch UMLS:C0039743 Unspecified -Orphanet:2655 Thanatophoric dysplasia skos:narrowMatch OMIM:187600 Unspecified -Orphanet:2655 Thanatophoric dysplasia skos:exactMatch MedDRA:10049808 Unspecified -Orphanet:2655 Thanatophoric dysplasia skos:exactMatch ICD10:Q77.1 Unspecified -Orphanet:2655 Thanatophoric dysplasia skos:narrowMatch OMIM:187601 Unspecified -Orphanet:2655 Thanatophoric dysplasia skos:narrowMatch OMIM:156830 Unspecified -Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref OMIM:606407 Unspecified -Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 Unspecified -Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref UMLS:C1848030 Unspecified -Orphanet:163690 Hypotonia-cystinuria syndrome skos:broadMatch ICD10:E72.0 Unspecified -Orphanet:163690 Hypotonia-cystinuria syndrome skos:exactMatch UMLS:C1848030 Unspecified -Orphanet:163690 Hypotonia-cystinuria syndrome skos:exactMatch OMIM:606407 Unspecified -Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref OMIM:254900 Unspecified -Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref UMLS:C0751779 Unspecified -Orphanet:163696 Action myoclonus-renal failure syndrome skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:163696 Action myoclonus-renal failure syndrome skos:exactMatch OMIM:254900 Unspecified -Orphanet:163696 Action myoclonus-renal failure syndrome skos:exactMatch UMLS:C0751779 Unspecified -Orphanet:314950 Primary hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 Unspecified -Orphanet:314950 Primary hypereosinophilic syndrome skos:broadMatch ICD10:D47.5 Unspecified -Orphanet:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 Unspecified -Orphanet:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref OMIM:606407 Unspecified -Orphanet:163693 2p21 microdeletion syndrome skos:broadMatch ICD10:Q93.5 Unspecified -Orphanet:163693 2p21 microdeletion syndrome skos:broadMatch OMIM:606407 Unspecified -Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref MedDRA:10001882 Unspecified -Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref OMIM:606243 Unspecified -Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref MESH:D018234 Unspecified -Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref ICD10:C49.9 Unspecified -Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref UMLS:C0206657 Unspecified -Orphanet:163699 Alveolar soft tissue sarcoma skos:exactMatch UMLS:C0206657 Unspecified -Orphanet:163699 Alveolar soft tissue sarcoma skos:broadMatch ICD10:C49.9 Unspecified -Orphanet:163699 Alveolar soft tissue sarcoma skos:exactMatch OMIM:606243 Unspecified -Orphanet:163699 Alveolar soft tissue sarcoma skos:exactMatch MedDRA:10001882 Unspecified -Orphanet:163699 Alveolar soft tissue sarcoma skos:exactMatch MESH:D018234 Unspecified -Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref UMLS:C1847973 Unspecified -Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref OMIM:606445 Unspecified -Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref ICD10:D72.8 Unspecified -Orphanet:300324 Persistent polyclonal B-cell lymphocytosis skos:broadMatch ICD10:D72.8 Unspecified -Orphanet:300324 Persistent polyclonal B-cell lymphocytosis skos:exactMatch UMLS:C1847973 Unspecified -Orphanet:300324 Persistent polyclonal B-cell lymphocytosis skos:exactMatch OMIM:606445 Unspecified -Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:272430 Unspecified -Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:610313 Unspecified -Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:617055 Unspecified -Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref ICD10:G90.8 Unspecified -Orphanet:157820 Cold-induced sweating syndrome skos:narrowMatch OMIM:610313 Unspecified -Orphanet:157820 Cold-induced sweating syndrome skos:narrowMatch OMIM:617055 Unspecified -Orphanet:157820 Cold-induced sweating syndrome skos:broadMatch ICD10:G90.8 Unspecified -Orphanet:157820 Cold-induced sweating syndrome skos:exactMatch OMIM:272430 Unspecified -Orphanet:206492 Vulvovaginal rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C52 Unspecified -Orphanet:206492 Vulvovaginal rhabdomyosarcoma skos:broadMatch ICD10:C52 Unspecified -Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency oboInOwl:hasDbXref OMIM:613329 Unspecified -Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency oboInOwl:hasDbXref UMLS:C2750067 Unspecified -Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency oboInOwl:hasDbXref ICD10:D68.8 Unspecified -Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency skos:broadMatch ICD10:D68.8 Unspecified -Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch UMLS:C2750067 Unspecified -Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch OMIM:613329 Unspecified -Orphanet:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref OMIM:613909 Unspecified -Orphanet:276183 Spinocerebellar ataxia type 32 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:276183 Spinocerebellar ataxia type 32 skos:exactMatch OMIM:613909 Unspecified -Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref OMIM:600072 Unspecified -Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref MedDRA:10072077 Unspecified -Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref ICD10:A81.8 Unspecified -Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref UMLS:C0206042 Unspecified -Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref MESH:D034062 Unspecified -Orphanet:466 Fatal familial insomnia skos:exactMatch MESH:D034062 Unspecified -Orphanet:466 Fatal familial insomnia skos:broadMatch ICD10:A81.8 Unspecified -Orphanet:466 Fatal familial insomnia skos:exactMatch UMLS:C0206042 Unspecified -Orphanet:466 Fatal familial insomnia skos:exactMatch OMIM:600072 Unspecified -Orphanet:466 Fatal familial insomnia skos:exactMatch MedDRA:10072077 Unspecified -Orphanet:34217 Naxos disease oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:34217 Naxos disease oboInOwl:hasDbXref MESH:C538346 Unspecified -Orphanet:34217 Naxos disease oboInOwl:hasDbXref OMIM:601214 Unspecified -Orphanet:34217 Naxos disease oboInOwl:hasDbXref UMLS:C1832600 Unspecified -Orphanet:34217 Naxos disease skos:exactMatch OMIM:601214 Unspecified -Orphanet:34217 Naxos disease skos:exactMatch UMLS:C1832600 Unspecified -Orphanet:34217 Naxos disease skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:34217 Naxos disease skos:exactMatch MESH:C538346 Unspecified -Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref UMLS:C0016751 Unspecified -Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref MESH:D005633 Unspecified -Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref ICD10:E74.1 Unspecified -Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref OMIM:229600 Unspecified -Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref MedDRA:10019878 Unspecified -Orphanet:469 Hereditary fructose intolerance skos:exactMatch MedDRA:10019878 Unspecified -Orphanet:469 Hereditary fructose intolerance skos:exactMatch OMIM:229600 Unspecified -Orphanet:469 Hereditary fructose intolerance skos:broadMatch ICD10:E74.1 Unspecified -Orphanet:469 Hereditary fructose intolerance skos:exactMatch UMLS:C0016751 Unspecified -Orphanet:469 Hereditary fructose intolerance skos:exactMatch MESH:D005633 Unspecified -Orphanet:206473 Borderline epithelial tumor of ovary oboInOwl:hasDbXref UMLS:C3665489 Unspecified -Orphanet:206473 Borderline epithelial tumor of ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:206473 Borderline epithelial tumor of ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:206473 Borderline epithelial tumor of ovary skos:exactMatch UMLS:C3665489 Unspecified -Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238462 Unspecified -Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref MedDRA:10027101 Unspecified -Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 Unspecified -Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref MESH:C536914 Unspecified -Orphanet:1332 Medullary thyroid carcinoma skos:exactMatch MESH:C536914 Unspecified -Orphanet:1332 Medullary thyroid carcinoma skos:exactMatch UMLS:C0238462 Unspecified -Orphanet:1332 Medullary thyroid carcinoma skos:broadMatch ICD10:C73 Unspecified -Orphanet:1332 Medullary thyroid carcinoma skos:exactMatch MedDRA:10027101 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref MESH:C537243 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:300704 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611868 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:614731 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref UMLS:C2931456 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611958 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:610997 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:608656 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:608658 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:602759 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:610321 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611100 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:601518 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611928 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:176807 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:609558 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:603688 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref ICD10:C61 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611955 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611959 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:609299 Unspecified -Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:300147 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:611928 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:611955 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:611959 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:603688 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:609558 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:610321 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:300147 Unspecified -Orphanet:1331 Familial prostate cancer skos:broadMatch ICD10:C61 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:609299 Unspecified -Orphanet:1331 Familial prostate cancer skos:broadMatch OMIM:176807 Unspecified -Orphanet:1331 Familial prostate cancer skos:exactMatch MESH:C537243 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:608658 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:608656 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:601518 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:611100 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:602759 Unspecified -Orphanet:1331 Familial prostate cancer skos:exactMatch UMLS:C2931456 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:610997 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:611958 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:611868 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:614731 Unspecified -Orphanet:1331 Familial prostate cancer skos:narrowMatch OMIM:300704 Unspecified -Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref MESH:D018201 Unspecified -Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS:C1332965 Unspecified -Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref ICD10:D41.0 Unspecified -Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref MedDRA:10070665 Unspecified -Orphanet:2665 Congenital mesoblastic nephroma skos:exactMatch MedDRA:10070665 Unspecified -Orphanet:2665 Congenital mesoblastic nephroma skos:broadMatch ICD10:D41.0 Unspecified -Orphanet:2665 Congenital mesoblastic nephroma skos:exactMatch MESH:D018201 Unspecified -Orphanet:2665 Congenital mesoblastic nephroma skos:exactMatch UMLS:C1332965 Unspecified -Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome oboInOwl:hasDbXref ICD10:Q61.8 Unspecified -Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome skos:broadMatch ICD10:Q61.8 Unspecified -Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref OMIM:144190 Unspecified -Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref UMLS:C1840428 Unspecified -Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome skos:exactMatch UMLS:C1840428 Unspecified -Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome skos:exactMatch OMIM:144190 Unspecified -Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref MedDRA:10048063 Unspecified -Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref UMLS:C0079588 Unspecified -Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref UMLS:C2720163 Unspecified -Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 Unspecified -Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref UMLS:C2717836 Unspecified -Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref MESH:D016114 Unspecified -Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:300001 Unspecified -Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 Unspecified -Orphanet:461 Recessive X-linked ichthyosis skos:exactMatch UMLS:C2717836 Unspecified -Orphanet:461 Recessive X-linked ichthyosis skos:exactMatch MESH:D016114 Unspecified -Orphanet:461 Recessive X-linked ichthyosis skos:exactMatch OMIM:308100 Unspecified -Orphanet:461 Recessive X-linked ichthyosis skos:narrowMatch OMIM:300001 Unspecified -Orphanet:461 Recessive X-linked ichthyosis skos:exactMatch UMLS:C0079588 Unspecified -Orphanet:461 Recessive X-linked ichthyosis skos:exactMatch UMLS:C2720163 Unspecified -Orphanet:461 Recessive X-linked ichthyosis skos:exactMatch ICD10:Q80.1 Unspecified -Orphanet:461 Recessive X-linked ichthyosis skos:exactMatch MedDRA:10048063 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:247650 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613956 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:616445 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref MedDRA:10009007 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:615527 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:252250 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref MESH:D002178 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:607644 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613953 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref UMLS:C0006845 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref ICD10:B37.2 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613108 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:114580 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:252250 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:exactMatch UMLS:C0006845 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:616445 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:613956 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:exactMatch OMIM:114580 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:exactMatch MESH:D002178 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:615527 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:247650 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:607644 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:613953 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:613108 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:broadMatch ICD10:B37.2 Unspecified -Orphanet:1334 Chronic mucocutaneous candidiasis skos:exactMatch MedDRA:10009007 Unspecified -Orphanet:90363 Secondary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 Unspecified -Orphanet:90363 Secondary intestinal lymphangiectasia skos:broadMatch ICD10:I89.0 Unspecified -Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:613348 Unspecified -Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:606856 Unspecified -Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref MESH:C535837 Unspecified -Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref ICD10:C25 Unspecified -Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:613347 Unspecified -Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:260350 Unspecified -Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:614320 Unspecified -Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref UMLS:C2931038 Unspecified -Orphanet:1333 Familial pancreatic carcinoma skos:broadMatch OMIM:260350 Unspecified -Orphanet:1333 Familial pancreatic carcinoma skos:narrowMatch OMIM:613347 Unspecified -Orphanet:1333 Familial pancreatic carcinoma skos:exactMatch UMLS:C2931038 Unspecified -Orphanet:1333 Familial pancreatic carcinoma skos:narrowMatch OMIM:614320 Unspecified -Orphanet:1333 Familial pancreatic carcinoma skos:exactMatch MESH:C535837 Unspecified -Orphanet:1333 Familial pancreatic carcinoma skos:narrowMatch OMIM:606856 Unspecified -Orphanet:1333 Familial pancreatic carcinoma skos:broadMatch ICD10:C25 Unspecified -Orphanet:1333 Familial pancreatic carcinoma skos:narrowMatch OMIM:613348 Unspecified -Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref UMLS:C2931241 Unspecified -Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref OMIM:152800 Unspecified -Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref MESH:C536567 Unspecified -Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 Unspecified -Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref UMLS:C0267372 Unspecified -Orphanet:90362 Primary intestinal lymphangiectasia skos:exactMatch UMLS:C2931241 Unspecified -Orphanet:90362 Primary intestinal lymphangiectasia skos:broadMatch ICD10:I89.0 Unspecified -Orphanet:90362 Primary intestinal lymphangiectasia skos:exactMatch MESH:C536567 Unspecified -Orphanet:90362 Primary intestinal lymphangiectasia skos:exactMatch OMIM:152800 Unspecified -Orphanet:90362 Primary intestinal lymphangiectasia skos:exactMatch UMLS:C0267372 Unspecified -Orphanet:289494 4H leukodystrophy oboInOwl:hasDbXref ICD10:G93.8 Unspecified -Orphanet:289494 4H leukodystrophy skos:broadMatch ICD10:G93.8 Unspecified -Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref UMLS:C1840299 Unspecified -Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref OMIM:146520 Unspecified -Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref OMIM:613981 Unspecified -Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref ICD10:L65.8 Unspecified -Orphanet:90368 Hypotrichosis simplex of the scalp skos:narrowMatch OMIM:146520 Unspecified -Orphanet:90368 Hypotrichosis simplex of the scalp skos:broadMatch ICD10:L65.8 Unspecified -Orphanet:90368 Hypotrichosis simplex of the scalp skos:narrowMatch OMIM:613981 Unspecified -Orphanet:90368 Hypotrichosis simplex of the scalp skos:exactMatch UMLS:C1840299 Unspecified -Orphanet:324307 Severe lateral tibial bowing with short stature oboInOwl:hasDbXref ICD10:Q68.4 Unspecified -Orphanet:324307 Severe lateral tibial bowing with short stature skos:broadMatch ICD10:Q68.4 Unspecified -Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:609057 Unspecified -Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:N08.2 Unspecified -Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C1836823 Unspecified -Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome skos:exactMatch OMIM:609057 Unspecified -Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome skos:exactMatch UMLS:C1836823 Unspecified -Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome skos:broadMatch ICD10:N08.2 Unspecified -Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref ICD10:L85.0 Unspecified -Orphanet:454 Acquired ichthyosis skos:exactMatch ICD10:L85.0 Unspecified -Orphanet:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref OMIM:613908 Unspecified -Orphanet:276193 Spinocerebellar ataxia type 35 skos:exactMatch OMIM:613908 Unspecified -Orphanet:276193 Spinocerebellar ataxia type 35 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 Unspecified -Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref MESH:D053560 Unspecified -Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C0432306 Unspecified -Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:146800 Unspecified -Orphanet:455 Superficial epidermolytic ichthyosis skos:exactMatch OMIM:146800 Unspecified -Orphanet:455 Superficial epidermolytic ichthyosis skos:exactMatch UMLS:C0432306 Unspecified -Orphanet:455 Superficial epidermolytic ichthyosis skos:broadMatch ICD10:Q80.8 Unspecified -Orphanet:455 Superficial epidermolytic ichthyosis skos:exactMatch MESH:D053560 Unspecified -Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref UMLS:C0239849 Unspecified -Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref OMIM:242500 Unspecified -Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref UMLS:C0598226 Unspecified -Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref ICD10:Q80.4 Unspecified -Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref MedDRA:10019163 Unspecified -Orphanet:457 Harlequin ichthyosis skos:exactMatch MedDRA:10019163 Unspecified -Orphanet:457 Harlequin ichthyosis skos:exactMatch UMLS:C0598226 Unspecified -Orphanet:457 Harlequin ichthyosis skos:exactMatch ICD10:Q80.4 Unspecified -Orphanet:457 Harlequin ichthyosis skos:exactMatch OMIM:242500 Unspecified -Orphanet:457 Harlequin ichthyosis skos:exactMatch UMLS:C0239849 Unspecified -Orphanet:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.0 Unspecified -Orphanet:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:300703 Unspecified -Orphanet:314978 X-linked non progressive cerebellar ataxia skos:broadMatch OMIM:300703 Unspecified -Orphanet:314978 X-linked non progressive cerebellar ataxia skos:broadMatch ICD10:G11.0 Unspecified -Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome oboInOwl:hasDbXref UMLS:C2931548 Unspecified -Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome oboInOwl:hasDbXref ICD10:I42.0 Unspecified -Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome skos:broadMatch ICD10:I42.0 Unspecified -Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome skos:exactMatch UMLS:C2931548 Unspecified -Orphanet:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref OMIM:614153 Unspecified -Orphanet:276198 Spinocerebellar ataxia type 36 skos:exactMatch OMIM:614153 Unspecified -Orphanet:276198 Spinocerebellar ataxia type 36 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:1344 Atrial standstill oboInOwl:hasDbXref ICD10:I45.5 Unspecified -Orphanet:1344 Atrial standstill oboInOwl:hasDbXref OMIM:615745 Unspecified -Orphanet:1344 Atrial standstill oboInOwl:hasDbXref UMLS:C0541782 Unspecified -Orphanet:1344 Atrial standstill oboInOwl:hasDbXref OMIM:108770 Unspecified -Orphanet:1344 Atrial standstill oboInOwl:hasDbXref UMLS:C1838539 Unspecified -Orphanet:1344 Atrial standstill skos:broadMatch ICD10:I45.5 Unspecified -Orphanet:1344 Atrial standstill skos:narrowMatch OMIM:615745 Unspecified -Orphanet:1344 Atrial standstill skos:exactMatch UMLS:C0541782 Unspecified -Orphanet:1344 Atrial standstill skos:exactMatch UMLS:C1838539 Unspecified -Orphanet:1344 Atrial standstill skos:narrowMatch OMIM:108770 Unspecified -Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref OMIM:229200 Unspecified -Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref OMIM:614170 Unspecified -Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref UMLS:C0268344 Unspecified -Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:90354 Brittle cornea syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:90354 Brittle cornea syndrome skos:exactMatch UMLS:C0268344 Unspecified -Orphanet:90354 Brittle cornea syndrome skos:narrowMatch OMIM:614170 Unspecified -Orphanet:90354 Brittle cornea syndrome skos:exactMatch OMIM:229200 Unspecified -Orphanet:206470 Cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 Unspecified -Orphanet:206470 Cystadenoma of childhood skos:broadMatch ICD10:D27 Unspecified -Orphanet:300345 Autosomal systemic lupus erythematosus oboInOwl:hasDbXref OMIM:614420 Unspecified -Orphanet:300345 Autosomal systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 Unspecified -Orphanet:300345 Autosomal systemic lupus erythematosus skos:broadMatch ICD10:M32.8 Unspecified -Orphanet:300345 Autosomal systemic lupus erythematosus skos:exactMatch OMIM:614420 Unspecified -Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref OMIM:130100 Unspecified -Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref MedDRA:10014338 Unspecified -Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref UMLS:C0221271 Unspecified -Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref ICD10:L87.2 Unspecified -Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref MESH:C536202 Unspecified -Orphanet:79148 Elastosis perforans serpiginosa skos:exactMatch MESH:C536202 Unspecified -Orphanet:79148 Elastosis perforans serpiginosa skos:exactMatch MedDRA:10014338 Unspecified -Orphanet:79148 Elastosis perforans serpiginosa skos:broadMatch ICD10:L87.2 Unspecified -Orphanet:79148 Elastosis perforans serpiginosa skos:exactMatch OMIM:130100 Unspecified -Orphanet:79148 Elastosis perforans serpiginosa skos:exactMatch UMLS:C0221271 Unspecified -Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref ICD10:L87.1 Unspecified -Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref UMLS:C1857624 Unspecified -Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref OMIM:216700 Unspecified -Orphanet:79147 Familial reactive perforating collagenosis skos:broadMatch ICD10:L87.1 Unspecified -Orphanet:79147 Familial reactive perforating collagenosis skos:exactMatch OMIM:216700 Unspecified -Orphanet:79147 Familial reactive perforating collagenosis skos:exactMatch UMLS:C1857624 Unspecified -Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref MESH:C536616 Unspecified -Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref UMLS:C1833454 Unspecified -Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref ICD10:M35.8 Unspecified -Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref OMIM:600705 Unspecified -Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref MedDRA:10070579 Unspecified -Orphanet:3130 Satoyoshi syndrome skos:exactMatch MedDRA:10070579 Unspecified -Orphanet:3130 Satoyoshi syndrome skos:exactMatch UMLS:C1833454 Unspecified -Orphanet:3130 Satoyoshi syndrome skos:exactMatch OMIM:600705 Unspecified -Orphanet:3130 Satoyoshi syndrome skos:broadMatch ICD10:M35.8 Unspecified -Orphanet:3130 Satoyoshi syndrome skos:exactMatch MESH:C536616 Unspecified -Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref OMIM:182601 Unspecified -Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref UMLS:C1866855 Unspecified -Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref MESH:C536865 Unspecified -Orphanet:100985 Autosomal dominant spastic paraplegia type 4 skos:exactMatch MESH:C536865 Unspecified -Orphanet:100985 Autosomal dominant spastic paraplegia type 4 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100985 Autosomal dominant spastic paraplegia type 4 skos:exactMatch UMLS:C1866855 Unspecified -Orphanet:100985 Autosomal dominant spastic paraplegia type 4 skos:exactMatch OMIM:182601 Unspecified -Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref OMIM:221800 Unspecified -Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref UMLS:C0432288 Unspecified -Orphanet:79149 Dermochondrocorneal dystrophy skos:exactMatch OMIM:221800 Unspecified -Orphanet:79149 Dermochondrocorneal dystrophy skos:exactMatch UMLS:C0432288 Unspecified -Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref OMIM:182600 Unspecified -Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref MESH:C536864 Unspecified -Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref UMLS:C2931355 Unspecified -Orphanet:100984 Autosomal dominant spastic paraplegia type 3 skos:exactMatch UMLS:C2931355 Unspecified -Orphanet:100984 Autosomal dominant spastic paraplegia type 3 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100984 Autosomal dominant spastic paraplegia type 3 skos:exactMatch MESH:C536864 Unspecified -Orphanet:100984 Autosomal dominant spastic paraplegia type 3 skos:exactMatch OMIM:182600 Unspecified -Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:124900 Unspecified -Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:H90.3 Unspecified -Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:broadMatch ICD10:H90.3 Unspecified -Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:exactMatch OMIM:124900 Unspecified -Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref UMLS:C1834570 Unspecified -Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref OMIM:159900 Unspecified -Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref MESH:C536096 Unspecified -Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref OMIM:616398 Unspecified -Orphanet:36899 Myoclonus-dystonia syndrome skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:36899 Myoclonus-dystonia syndrome skos:exactMatch UMLS:C1834570 Unspecified -Orphanet:36899 Myoclonus-dystonia syndrome skos:narrowMatch OMIM:616398 Unspecified -Orphanet:36899 Myoclonus-dystonia syndrome skos:narrowMatch OMIM:159900 Unspecified -Orphanet:36899 Myoclonus-dystonia syndrome skos:exactMatch MESH:C536096 Unspecified -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref OMIM:609241 Unspecified -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref UMLS:C0342850 Unspecified -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref ICD10:E77.1 Unspecified -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref UMLS:C1836544 Unspecified -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref OMIM:609242 Unspecified -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency skos:exactMatch UMLS:C1836544 Unspecified -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency skos:narrowMatch OMIM:609241 Unspecified -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency skos:narrowMatch OMIM:609242 Unspecified -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency skos:exactMatch UMLS:C0342850 Unspecified -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency skos:broadMatch ICD10:E77.1 Unspecified -Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C0007129 Unspecified -Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.3 Unspecified -Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.7 Unspecified -Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.6 Unspecified -Orphanet:79140 Cutaneous neuroendocrine carcinoma skos:narrowMatch ICD10:C44.6 Unspecified -Orphanet:79140 Cutaneous neuroendocrine carcinoma skos:narrowMatch ICD10:C44.7 Unspecified -Orphanet:79140 Cutaneous neuroendocrine carcinoma skos:narrowMatch ICD10:C44.3 Unspecified -Orphanet:79140 Cutaneous neuroendocrine carcinoma skos:exactMatch UMLS:C0007129 Unspecified -Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref OMIM:114140 Unspecified -Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref UMLS:C1861964 Unspecified -Orphanet:79141 Hereditary painful callosities skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:79141 Hereditary painful callosities skos:exactMatch OMIM:114140 Unspecified -Orphanet:79141 Hereditary painful callosities skos:exactMatch UMLS:C1861964 Unspecified -Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome oboInOwl:hasDbXref OMIM:617066 Unspecified -Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:exactMatch OMIM:617066 Unspecified -Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref ICD10:Q84.6 Unspecified -Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref OMIM:605779 Unspecified -Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref UMLS:C1853984 Unspecified -Orphanet:79144 Isolated congenital onychodysplasia skos:exactMatch UMLS:C1853984 Unspecified -Orphanet:79144 Isolated congenital onychodysplasia skos:exactMatch OMIM:605779 Unspecified -Orphanet:79144 Isolated congenital onychodysplasia skos:broadMatch ICD10:Q84.6 Unspecified -Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref OMIM:614149 Unspecified -Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref UMLS:C0265998 Unspecified -Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref ICD10:Q84.3 Unspecified -Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref OMIM:206800 Unspecified -Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref OMIM:107000 Unspecified -Orphanet:79143 Isolated congenital anonychia skos:narrowMatch OMIM:614149 Unspecified -Orphanet:79143 Isolated congenital anonychia skos:narrowMatch OMIM:206800 Unspecified -Orphanet:79143 Isolated congenital anonychia skos:exactMatch UMLS:C0265998 Unspecified -Orphanet:79143 Isolated congenital anonychia skos:narrowMatch OMIM:107000 Unspecified -Orphanet:79143 Isolated congenital anonychia skos:exactMatch ICD10:Q84.3 Unspecified -Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref ICD10:L81.4 Unspecified -Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref UMLS:C1835039 Unspecified -Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref OMIM:614233 Unspecified -Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref OMIM:145250 Unspecified -Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref UMLS:C1840392 Unspecified -Orphanet:79146 Familial progressive hyperpigmentation skos:exactMatch UMLS:C1835039 Unspecified -Orphanet:79146 Familial progressive hyperpigmentation skos:exactMatch UMLS:C1840392 Unspecified -Orphanet:79146 Familial progressive hyperpigmentation skos:exactMatch OMIM:614233 Unspecified -Orphanet:79146 Familial progressive hyperpigmentation skos:broadMatch ICD10:L81.4 Unspecified -Orphanet:79146 Familial progressive hyperpigmentation skos:narrowMatch OMIM:145250 Unspecified -Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref OMIM:616866 Unspecified -Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref OMIM:616867 Unspecified -Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures skos:narrowMatch OMIM:616866 Unspecified -Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures skos:narrowMatch OMIM:616867 Unspecified -Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615327 Unspecified -Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref ICD10:L81.8 Unspecified -Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref MedDRA:10068651 Unspecified -Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:179850 Unspecified -Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref UMLS:C3714534 Unspecified -Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615674 Unspecified -Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615696 Unspecified -Orphanet:79145 Dowling-Degos disease skos:narrowMatch OMIM:615327 Unspecified -Orphanet:79145 Dowling-Degos disease skos:broadMatch ICD10:L81.8 Unspecified -Orphanet:79145 Dowling-Degos disease skos:exactMatch UMLS:C3714534 Unspecified -Orphanet:79145 Dowling-Degos disease skos:exactMatch OMIM:179850 Unspecified -Orphanet:79145 Dowling-Degos disease skos:exactMatch MedDRA:10068651 Unspecified -Orphanet:79145 Dowling-Degos disease skos:narrowMatch OMIM:615696 Unspecified -Orphanet:79145 Dowling-Degos disease skos:narrowMatch OMIM:615674 Unspecified -Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy oboInOwl:hasDbXref OMIM:615042 Unspecified -Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy skos:exactMatch OMIM:615042 Unspecified -Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref OMIM:229070 Unspecified -Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref MESH:C537070 Unspecified -Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref UMLS:C0342386 Unspecified -Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref UMLS:C1856716 Unspecified -Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref ICD10:E23.6 Unspecified -Orphanet:52901 Isolated follicle stimulating hormone deficiency skos:broadMatch ICD10:E23.6 Unspecified -Orphanet:52901 Isolated follicle stimulating hormone deficiency skos:exactMatch UMLS:C1856716 Unspecified -Orphanet:52901 Isolated follicle stimulating hormone deficiency skos:exactMatch OMIM:229070 Unspecified -Orphanet:52901 Isolated follicle stimulating hormone deficiency skos:exactMatch MESH:C537070 Unspecified -Orphanet:52901 Isolated follicle stimulating hormone deficiency skos:exactMatch UMLS:C0342386 Unspecified -Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:614508 Unspecified -Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref ICD10:G25.8 Unspecified -Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:618264 Unspecified -Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:616059 Unspecified -Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:157600 Unspecified -Orphanet:238722 Familial congenital mirror movements skos:narrowMatch OMIM:614508 Unspecified -Orphanet:238722 Familial congenital mirror movements skos:broadMatch ICD10:G25.8 Unspecified -Orphanet:238722 Familial congenital mirror movements skos:narrowMatch OMIM:618264 Unspecified -Orphanet:238722 Familial congenital mirror movements skos:narrowMatch OMIM:616059 Unspecified -Orphanet:238722 Familial congenital mirror movements skos:narrowMatch OMIM:157600 Unspecified -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref MESH:C536871 Unspecified -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref UMLS:C2931356 Unspecified -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref UMLS:C1849115 Unspecified -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref OMIM:270800 Unspecified -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A skos:exactMatch UMLS:C2931356 Unspecified -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A skos:exactMatch OMIM:270800 Unspecified -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A skos:exactMatch UMLS:C1849115 Unspecified -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A skos:exactMatch MESH:C536871 Unspecified -Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref UMLS:C1863704 Unspecified -Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref OMIM:603563 Unspecified -Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref MESH:C536867 Unspecified -Orphanet:100989 Autosomal dominant spastic paraplegia type 8 skos:exactMatch MESH:C536867 Unspecified -Orphanet:100989 Autosomal dominant spastic paraplegia type 8 skos:exactMatch OMIM:603563 Unspecified -Orphanet:100989 Autosomal dominant spastic paraplegia type 8 skos:exactMatch UMLS:C1863704 Unspecified -Orphanet:100989 Autosomal dominant spastic paraplegia type 8 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref UMLS:C1838192 Unspecified -Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref MESH:C536866 Unspecified -Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref OMIM:600363 Unspecified -Orphanet:100988 Autosomal dominant spastic paraplegia type 6 skos:exactMatch OMIM:600363 Unspecified -Orphanet:100988 Autosomal dominant spastic paraplegia type 6 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100988 Autosomal dominant spastic paraplegia type 6 skos:exactMatch MESH:C536866 Unspecified -Orphanet:100988 Autosomal dominant spastic paraplegia type 6 skos:exactMatch UMLS:C1838192 Unspecified -Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1969809 Unspecified -Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C535541 Unspecified -Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:611283 Unspecified -Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:611283 Unspecified -Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency skos:exactMatch MESH:C535541 Unspecified -Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C1969809 Unspecified -Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref ICD10:E31.0 Unspecified -Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref UMLS:C0085860 Unspecified -Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref OMIM:269200 Unspecified -Orphanet:3143 Autoimmune polyendocrinopathy type 2 skos:exactMatch UMLS:C0085860 Unspecified -Orphanet:3143 Autoimmune polyendocrinopathy type 2 skos:exactMatch OMIM:269200 Unspecified -Orphanet:3143 Autoimmune polyendocrinopathy type 2 skos:exactMatch ICD10:E31.0 Unspecified -Orphanet:100973 FRAXE intellectual disability oboInOwl:hasDbXref OMIM:309548 Unspecified -Orphanet:100973 FRAXE intellectual disability skos:exactMatch OMIM:309548 Unspecified -Orphanet:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS:C0206729 Unspecified -Orphanet:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref MedDRA:10029236 Unspecified -Orphanet:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS:C0751690 Unspecified -Orphanet:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref ICD10:C47.9 Unspecified -Orphanet:3148 Malignant peripheral nerve sheath tumor skos:exactMatch UMLS:C0751690 Unspecified -Orphanet:3148 Malignant peripheral nerve sheath tumor skos:exactMatch MedDRA:10029236 Unspecified -Orphanet:3148 Malignant peripheral nerve sheath tumor skos:exactMatch UMLS:C0206729 Unspecified -Orphanet:3148 Malignant peripheral nerve sheath tumor skos:broadMatch ICD10:C47.9 Unspecified -Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref MedDRA:10069445 Unspecified -Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref UMLS:C0265971 Unspecified -Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref OMIM:101900 Unspecified -Orphanet:79151 Acrokeratosis verruciformis of Hopf skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:79151 Acrokeratosis verruciformis of Hopf skos:exactMatch OMIM:101900 Unspecified -Orphanet:79151 Acrokeratosis verruciformis of Hopf skos:exactMatch MedDRA:10069445 Unspecified -Orphanet:79151 Acrokeratosis verruciformis of Hopf skos:exactMatch UMLS:C0265971 Unspecified -Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref OMIM:614323 Unspecified -Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref ICD10:L81.4 Unspecified -Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref UMLS:C1304501 Unspecified -Orphanet:79150 Linear and whorled nevoid hypermelanosis skos:broadMatch ICD10:L81.4 Unspecified -Orphanet:79150 Linear and whorled nevoid hypermelanosis skos:exactMatch OMIM:614323 Unspecified -Orphanet:79150 Linear and whorled nevoid hypermelanosis skos:exactMatch UMLS:C1304501 Unspecified -Orphanet:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref UMLS:C0796172 Unspecified -Orphanet:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref OMIM:313420 Unspecified -Orphanet:168544 Spondylometaphyseal dysplasia, Golden type skos:exactMatch UMLS:C0796172 Unspecified -Orphanet:168544 Spondylometaphyseal dysplasia, Golden type skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:168544 Spondylometaphyseal dysplasia, Golden type skos:exactMatch OMIM:313420 Unspecified -Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis oboInOwl:hasDbXref OMIM:615895 Unspecified -Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:broadMatch OMIM:615895 Unspecified -Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:79153 Idiopathic trachyonychia oboInOwl:hasDbXref UMLS:C0406443 Unspecified -Orphanet:79153 Idiopathic trachyonychia oboInOwl:hasDbXref OMIM:161050 Unspecified -Orphanet:79153 Idiopathic trachyonychia oboInOwl:hasDbXref ICD10:L60.3 Unspecified -Orphanet:79153 Idiopathic trachyonychia skos:exactMatch OMIM:161050 Unspecified -Orphanet:79153 Idiopathic trachyonychia skos:broadMatch ICD10:L60.3 Unspecified -Orphanet:79153 Idiopathic trachyonychia skos:exactMatch UMLS:C0406443 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:175900 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:612353 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:616063 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:607728 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:614714 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:612293 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref UMLS:C0265970 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:616631 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:612293 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis skos:exactMatch UMLS:C0265970 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:616631 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:614714 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:607728 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:175900 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:616063 Unspecified -Orphanet:79152 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:612353 Unspecified -Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref OMIM:236800 Unspecified -Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref UMLS:C0268474 Unspecified -Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref ICD10:E70.8 Unspecified -Orphanet:79155 Hydroxykynureninuria skos:exactMatch UMLS:C0268474 Unspecified -Orphanet:79155 Hydroxykynureninuria skos:exactMatch OMIM:236800 Unspecified -Orphanet:79155 Hydroxykynureninuria skos:broadMatch ICD10:E70.8 Unspecified -Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref ICD10:E72.3 Unspecified -Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref OMIM:204750 Unspecified -Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch OMIM:204750 Unspecified -Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria skos:broadMatch ICD10:E72.3 Unspecified -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:N21.5 Unspecified -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:221995 Unspecified -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C2931070 Unspecified -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome skos:exactMatch UMLS:C2931070 Unspecified -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome skos:exactMatch OMIM:221995 Unspecified -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome skos:broadMatch ICD10:N21.5 Unspecified -Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1864912 Unspecified -Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:610006 Unspecified -Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:610006 Unspecified -Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C1864912 Unspecified -Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref ICD10:E72.3 Unspecified -Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref OMIM:236900 Unspecified -Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome skos:broadMatch ICD10:E72.3 Unspecified -Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch OMIM:236900 Unspecified -Orphanet:40923 Eales disease oboInOwl:hasDbXref UMLS:C0271073 Unspecified -Orphanet:40923 Eales disease oboInOwl:hasDbXref MESH:C538011 Unspecified -Orphanet:40923 Eales disease oboInOwl:hasDbXref ICD10:H35.0 Unspecified -Orphanet:40923 Eales disease oboInOwl:hasDbXref MedDRA:10057429 Unspecified -Orphanet:40923 Eales disease skos:exactMatch MedDRA:10057429 Unspecified -Orphanet:40923 Eales disease skos:broadMatch ICD10:H35.0 Unspecified -Orphanet:40923 Eales disease skos:exactMatch MESH:C538011 Unspecified -Orphanet:40923 Eales disease skos:exactMatch UMLS:C0271073 Unspecified -Orphanet:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1865695 Unspecified -Orphanet:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref MESH:C535795 Unspecified -Orphanet:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref OMIM:602271 Unspecified -Orphanet:168549 Axial spondylometaphyseal dysplasia skos:exactMatch MESH:C535795 Unspecified -Orphanet:168549 Axial spondylometaphyseal dysplasia skos:exactMatch UMLS:C1865695 Unspecified -Orphanet:168549 Axial spondylometaphyseal dysplasia skos:exactMatch OMIM:602271 Unspecified -Orphanet:168549 Axial spondylometaphyseal dysplasia skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:612233 Unspecified -Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:300523 Unspecified -Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:608804 Unspecified -Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:260600 Unspecified -Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:280270 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:260600 Unspecified -Orphanet:280270 Pelizaeus-Merzbacher-like disease skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:280270 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:608804 Unspecified -Orphanet:280270 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:612233 Unspecified -Orphanet:280270 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:300523 Unspecified -Orphanet:100976 Bathing suit ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 Unspecified -Orphanet:100976 Bathing suit ichthyosis oboInOwl:hasDbXref OMIM:242300 Unspecified -Orphanet:100976 Bathing suit ichthyosis skos:broadMatch OMIM:242300 Unspecified -Orphanet:100976 Bathing suit ichthyosis skos:broadMatch ICD10:Q80.2 Unspecified -Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome oboInOwl:hasDbXref ICD10:G37.8 Unspecified -Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:broadMatch ICD10:G37.8 Unspecified -Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref UMLS:C0085786 Unspecified -Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 Unspecified -Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref MedDRA:10066728 Unspecified -Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref UMLS:C1279945 Unspecified -Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref OMIM:178500 Unspecified -Orphanet:79126 Acute interstitial pneumonia skos:exactMatch UMLS:C1279945 Unspecified -Orphanet:79126 Acute interstitial pneumonia skos:exactMatch MedDRA:10066728 Unspecified -Orphanet:79126 Acute interstitial pneumonia skos:broadMatch ICD10:J84.1 Unspecified -Orphanet:79126 Acute interstitial pneumonia skos:exactMatch UMLS:C0085786 Unspecified -Orphanet:79126 Acute interstitial pneumonia skos:broadMatch OMIM:178500 Unspecified -Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref UMLS:C0264511 Unspecified -Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref MedDRA:10062997 Unspecified -Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref OMIM:247610 Unspecified -Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 Unspecified -Orphanet:79128 Lymphoid interstitial pneumonia skos:exactMatch OMIM:247610 Unspecified -Orphanet:79128 Lymphoid interstitial pneumonia skos:exactMatch MedDRA:10062997 Unspecified -Orphanet:79128 Lymphoid interstitial pneumonia skos:exactMatch UMLS:C0264511 Unspecified -Orphanet:79128 Lymphoid interstitial pneumonia skos:broadMatch ICD10:J84.1 Unspecified -Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref UMLS:C1735355 Unspecified -Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref UMLS:C1276236 Unspecified -Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref ICD10:J68.4 Unspecified -Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref MedDRA:10066393 Unspecified -Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome skos:broadMatch ICD10:J68.4 Unspecified -Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome skos:exactMatch UMLS:C1735355 Unspecified -Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome skos:exactMatch UMLS:C1276236 Unspecified -Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome skos:exactMatch MedDRA:10066393 Unspecified -Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref OMIM:609052 Unspecified -Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref UMLS:C1836862 Unspecified -Orphanet:168555 Spondylometaphyseal dysplasia, A4 type skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:168555 Spondylometaphyseal dysplasia, A4 type skos:exactMatch UMLS:C1836862 Unspecified -Orphanet:168555 Spondylometaphyseal dysplasia, A4 type skos:exactMatch OMIM:609052 Unspecified -Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency oboInOwl:hasDbXref ICD10:Q56.1 Unspecified -Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency oboInOwl:hasDbXref OMIM:613743 Unspecified -Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch OMIM:613743 Unspecified -Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:broadMatch ICD10:Q56.1 Unspecified -Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref MESH:C535791 Unspecified -Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q77.8 Unspecified -Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1843706 Unspecified -Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:607543 Unspecified -Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch UMLS:C1843706 Unspecified -Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch OMIM:607543 Unspecified -Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:broadMatch ICD10:Q77.8 Unspecified -Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch MESH:C535791 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref UMLS:C0403553 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:606996 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:614845 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref ICD10:Q61.5 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:613615 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:609254 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref MESH:C537580 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:616629 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:610189 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:616307 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:606995 Unspecified -Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:266900 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:narrowMatch OMIM:613615 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:narrowMatch OMIM:609254 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:exactMatch OMIM:266900 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:narrowMatch OMIM:606996 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:narrowMatch OMIM:616629 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:broadMatch ICD10:Q61.5 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:narrowMatch OMIM:614845 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:narrowMatch OMIM:606995 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:narrowMatch OMIM:616307 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:narrowMatch OMIM:610189 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:exactMatch MESH:C537580 Unspecified -Orphanet:3156 Senior-Loken syndrome skos:exactMatch UMLS:C0403553 Unspecified -Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C1856128 Unspecified -Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref OMIM:235550 Unspecified -Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:K76.5 Unspecified -Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch OMIM:235550 Unspecified -Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome skos:broadMatch ICD10:K76.5 Unspecified -Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch UMLS:C1856128 Unspecified -Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 Unspecified -Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C0018523 Unspecified -Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 Unspecified -Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref MESH:D006211 Unspecified -Orphanet:157850 Pantothenate kinase-associated neurodegeneration skos:exactMatch ICD10:G23.0 Unspecified -Orphanet:157850 Pantothenate kinase-associated neurodegeneration skos:exactMatch UMLS:C0018523 Unspecified -Orphanet:157850 Pantothenate kinase-associated neurodegeneration skos:exactMatch OMIM:234200 Unspecified -Orphanet:157850 Pantothenate kinase-associated neurodegeneration skos:exactMatch MESH:D006211 Unspecified -Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref ICD10:I77.8 Unspecified -Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref UMLS:C1860518 Unspecified -Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref OMIM:192315 Unspecified -Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch OMIM:192315 Unspecified -Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch UMLS:C1860518 Unspecified -Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:broadMatch ICD10:I77.8 Unspecified -Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref OMIM:605280 Unspecified -Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref UMLS:C1854467 Unspecified -Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref MESH:C537485 Unspecified -Orphanet:100994 Autosomal dominant spastic paraplegia type 13 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100994 Autosomal dominant spastic paraplegia type 13 skos:exactMatch OMIM:605280 Unspecified -Orphanet:100994 Autosomal dominant spastic paraplegia type 13 skos:exactMatch UMLS:C1854467 Unspecified -Orphanet:100994 Autosomal dominant spastic paraplegia type 13 skos:exactMatch MESH:C537485 Unspecified -Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref OMIM:609446 Unspecified -Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref UMLS:C1836173 Unspecified -Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch UMLS:C1836173 Unspecified -Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch OMIM:609446 Unspecified -Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref MedDRA:10040493 Unspecified -Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref UMLS:C0036920 Unspecified -Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref MESH:D012751 Unspecified -Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref ICD10:C84.1 Unspecified -Orphanet:3162 Sézary syndrome skos:exactMatch MESH:D012751 Unspecified -Orphanet:3162 Sézary syndrome skos:exactMatch UMLS:C0036920 Unspecified -Orphanet:3162 Sézary syndrome skos:broadMatch ICD10:C84.1 Unspecified -Orphanet:3162 Sézary syndrome skos:exactMatch MedDRA:10040493 Unspecified -Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref OMIM:606552 Unspecified -Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref UMLS:C1847843 Unspecified -Orphanet:79136 Episodic ataxia type 4 skos:exactMatch UMLS:C1847843 Unspecified -Orphanet:79136 Episodic ataxia type 4 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:79136 Episodic ataxia type 4 skos:exactMatch OMIM:606552 Unspecified -Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref UMLS:C1858106 Unspecified -Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref MESH:C537484 Unspecified -Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref OMIM:604805 Unspecified -Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100993 Autosomal dominant spastic paraplegia type 12 skos:exactMatch MESH:C537484 Unspecified -Orphanet:100993 Autosomal dominant spastic paraplegia type 12 skos:exactMatch UMLS:C1858106 Unspecified -Orphanet:100993 Autosomal dominant spastic paraplegia type 12 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100993 Autosomal dominant spastic paraplegia type 12 skos:exactMatch OMIM:604805 Unspecified -Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref OMIM:270700 Unspecified -Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref MESH:C536642 Unspecified -Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref UMLS:C1849128 Unspecified -Orphanet:100996 Autosomal recessive spastic paraplegia type 15 skos:exactMatch UMLS:C1849128 Unspecified -Orphanet:100996 Autosomal recessive spastic paraplegia type 15 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100996 Autosomal recessive spastic paraplegia type 15 skos:exactMatch MESH:C536642 Unspecified -Orphanet:100996 Autosomal recessive spastic paraplegia type 15 skos:exactMatch OMIM:270700 Unspecified -Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref UMLS:C0014057 Unspecified -Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref ICD10:A83.0 Unspecified -Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref MedDRA:10014596 Unspecified -Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref MESH:D004672 Unspecified -Orphanet:79139 Japanese encephalitis skos:exactMatch MESH:D004672 Unspecified -Orphanet:79139 Japanese encephalitis skos:exactMatch ICD10:A83.0 Unspecified -Orphanet:79139 Japanese encephalitis skos:exactMatch MedDRA:10014596 Unspecified -Orphanet:79139 Japanese encephalitis skos:exactMatch UMLS:C0014057 Unspecified -Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref UMLS:C0264005 Unspecified -Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref MedDRA:10014954 Unspecified -Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref ICD10:M35.4 Unspecified -Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref OMIM:226350 Unspecified -Orphanet:3165 Eosinophilic fasciitis skos:exactMatch ICD10:M35.4 Unspecified -Orphanet:3165 Eosinophilic fasciitis skos:exactMatch OMIM:226350 Unspecified -Orphanet:3165 Eosinophilic fasciitis skos:exactMatch MedDRA:10014954 Unspecified -Orphanet:3165 Eosinophilic fasciitis skos:exactMatch UMLS:C0264005 Unspecified -Orphanet:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref ICD10:G61.0 Unspecified -Orphanet:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref UMLS:C1960543 Unspecified -Orphanet:79138 Bickerstaff brainstem encephalitis skos:broadMatch ICD10:G61.0 Unspecified -Orphanet:79138 Bickerstaff brainstem encephalitis skos:exactMatch UMLS:C1960543 Unspecified -Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref OMIM:605229 Unspecified -Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref MESH:C537486 Unspecified -Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref UMLS:C1854568 Unspecified -Orphanet:100995 Autosomal recessive spastic paraplegia type 14 skos:exactMatch UMLS:C1854568 Unspecified -Orphanet:100995 Autosomal recessive spastic paraplegia type 14 skos:exactMatch MESH:C537486 Unspecified -Orphanet:100995 Autosomal recessive spastic paraplegia type 14 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100995 Autosomal recessive spastic paraplegia type 14 skos:exactMatch OMIM:605229 Unspecified -Orphanet:494433 MIRAGE syndrome oboInOwl:hasDbXref ICD10:E25.8 Unspecified -Orphanet:494433 MIRAGE syndrome oboInOwl:hasDbXref OMIM:617053 Unspecified -Orphanet:494433 MIRAGE syndrome skos:broadMatch ICD10:E25.8 Unspecified -Orphanet:494433 MIRAGE syndrome skos:exactMatch OMIM:617053 Unspecified -Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref MESH:C548080 Unspecified -Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref OMIM:606159 Unspecified -Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref UMLS:C1853578 Unspecified -Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref ICD10:G23.0 Unspecified -Orphanet:157846 Neuroferritinopathy skos:broadMatch ICD10:G23.0 Unspecified -Orphanet:157846 Neuroferritinopathy skos:exactMatch MESH:C548080 Unspecified -Orphanet:157846 Neuroferritinopathy skos:exactMatch UMLS:C1853578 Unspecified -Orphanet:157846 Neuroferritinopathy skos:exactMatch OMIM:606159 Unspecified -Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref OMIM:604187 Unspecified -Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref UMLS:C1858712 Unspecified -Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref MESH:C537482 Unspecified -Orphanet:100991 Autosomal dominant spastic paraplegia type 10 skos:exactMatch MESH:C537482 Unspecified -Orphanet:100991 Autosomal dominant spastic paraplegia type 10 skos:exactMatch UMLS:C1858712 Unspecified -Orphanet:100991 Autosomal dominant spastic paraplegia type 10 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100991 Autosomal dominant spastic paraplegia type 10 skos:exactMatch OMIM:604187 Unspecified -Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref OMIM:610505 Unspecified -Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref UMLS:C1864840 Unspecified -Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch OMIM:610505 Unspecified -Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch UMLS:C1864840 Unspecified -Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability oboInOwl:hasDbXref OMIM:615516 Unspecified -Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability oboInOwl:hasDbXref ICD10:F84.8 Unspecified -Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability skos:broadMatch ICD10:F84.8 Unspecified -Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability skos:exactMatch OMIM:615516 Unspecified -Orphanet:3166 Sialuria oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:3166 Sialuria oboInOwl:hasDbXref UMLS:C0342853 Unspecified -Orphanet:3166 Sialuria oboInOwl:hasDbXref UMLS:C2931471 Unspecified -Orphanet:3166 Sialuria oboInOwl:hasDbXref MESH:C537332 Unspecified -Orphanet:3166 Sialuria oboInOwl:hasDbXref MedDRA:10067529 Unspecified -Orphanet:3166 Sialuria oboInOwl:hasDbXref OMIM:269921 Unspecified -Orphanet:3166 Sialuria skos:exactMatch MESH:C537332 Unspecified -Orphanet:3166 Sialuria skos:exactMatch OMIM:269921 Unspecified -Orphanet:3166 Sialuria skos:exactMatch UMLS:C0342853 Unspecified -Orphanet:3166 Sialuria skos:exactMatch UMLS:C2931471 Unspecified -Orphanet:3166 Sialuria skos:exactMatch MedDRA:10067529 Unspecified -Orphanet:3166 Sialuria skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:90394 Discrete papular lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 Unspecified -Orphanet:90394 Discrete papular lichen myxedematosus skos:broadMatch ICD10:L98.5 Unspecified -Orphanet:90393 Nodular lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 Unspecified -Orphanet:90393 Nodular lichen myxedematosus skos:broadMatch ICD10:L98.5 Unspecified -Orphanet:329191 Tall stature-scoliosis-macrodactyly of the great toes syndrome oboInOwl:hasDbXref OMIM:615923 Unspecified -Orphanet:329191 Tall stature-scoliosis-macrodactyly of the great toes syndrome skos:exactMatch OMIM:615923 Unspecified -Orphanet:90396 Acral persistent papular mucinosis oboInOwl:hasDbXref UMLS:C0406660 Unspecified -Orphanet:90396 Acral persistent papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 Unspecified -Orphanet:90396 Acral persistent papular mucinosis skos:broadMatch ICD10:L98.5 Unspecified -Orphanet:90396 Acral persistent papular mucinosis skos:exactMatch UMLS:C0406660 Unspecified -Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref UMLS:C1847839 Unspecified -Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref OMIM:606554 Unspecified -Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:79135 Episodic ataxia type 3 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:79135 Episodic ataxia type 3 skos:exactMatch OMIM:606554 Unspecified -Orphanet:79135 Episodic ataxia type 3 skos:exactMatch UMLS:C1847839 Unspecified -Orphanet:79134 DEND syndrome oboInOwl:hasDbXref OMIM:606176 Unspecified -Orphanet:79134 DEND syndrome oboInOwl:hasDbXref ICD10:P70.2 Unspecified -Orphanet:79134 DEND syndrome oboInOwl:hasDbXref UMLS:C1853564 Unspecified -Orphanet:79134 DEND syndrome skos:broadMatch OMIM:606176 Unspecified -Orphanet:79134 DEND syndrome skos:exactMatch UMLS:C1853564 Unspecified -Orphanet:79134 DEND syndrome skos:broadMatch ICD10:P70.2 Unspecified -Orphanet:90395 Papular mucinosis of infancy oboInOwl:hasDbXref ICD10:L98.5 Unspecified -Orphanet:90395 Papular mucinosis of infancy skos:broadMatch ICD10:L98.5 Unspecified -Orphanet:90397 Self-healing papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 Unspecified -Orphanet:90397 Self-healing papular mucinosis skos:broadMatch ICD10:L98.5 Unspecified -Orphanet:238755 Autosomal dominant limb-girdle muscular dystrophy type 1H oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:238755 Autosomal dominant limb-girdle muscular dystrophy type 1H oboInOwl:hasDbXref OMIM:613530 Unspecified -Orphanet:238755 Autosomal dominant limb-girdle muscular dystrophy type 1H skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:238755 Autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch OMIM:613530 Unspecified -Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref UMLS:C2931276 Unspecified -Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref OMIM:270685 Unspecified -Orphanet:100998 Autosomal dominant spastic paraplegia type 17 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100998 Autosomal dominant spastic paraplegia type 17 skos:exactMatch UMLS:C2931276 Unspecified -Orphanet:100998 Autosomal dominant spastic paraplegia type 17 skos:exactMatch OMIM:270685 Unspecified -Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref MESH:C536643 Unspecified -Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref OMIM:300266 Unspecified -Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref UMLS:C1846046 Unspecified -Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100997 X-linked spastic paraplegia type 16 skos:exactMatch UMLS:C1846046 Unspecified -Orphanet:100997 X-linked spastic paraplegia type 16 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100997 X-linked spastic paraplegia type 16 skos:exactMatch MESH:C536643 Unspecified -Orphanet:100997 X-linked spastic paraplegia type 16 skos:exactMatch OMIM:300266 Unspecified -Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref UMLS:C1846685 Unspecified -Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref MESH:C536856 Unspecified -Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref OMIM:607152 Unspecified -Orphanet:100999 Autosomal dominant spastic paraplegia type 19 skos:exactMatch OMIM:607152 Unspecified -Orphanet:100999 Autosomal dominant spastic paraplegia type 19 skos:exactMatch MESH:C536856 Unspecified -Orphanet:100999 Autosomal dominant spastic paraplegia type 19 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:100999 Autosomal dominant spastic paraplegia type 19 skos:exactMatch UMLS:C1846685 Unspecified -Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome oboInOwl:hasDbXref OMIM:617671 Unspecified -Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome oboInOwl:hasDbXref ICD10:N25.8 Unspecified -Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome skos:exactMatch OMIM:617671 Unspecified -Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome skos:broadMatch ICD10:N25.8 Unspecified -Orphanet:189439 Primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:610489 Unspecified -Orphanet:189439 Primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref ICD10:E24.8 Unspecified -Orphanet:189439 Primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:614190 Unspecified -Orphanet:189439 Primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:615830 Unspecified -Orphanet:189439 Primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:610475 Unspecified -Orphanet:189439 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:610475 Unspecified -Orphanet:189439 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:614190 Unspecified -Orphanet:189439 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:615830 Unspecified -Orphanet:189439 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:610489 Unspecified -Orphanet:189439 Primary pigmented nodular adrenocortical disease skos:broadMatch ICD10:E24.8 Unspecified -Orphanet:458785 Partially involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:458785 Partially involuting congenital hemangioma skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation oboInOwl:hasDbXref ICD10:C92.0 Unspecified -Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:broadMatch ICD10:C92.0 Unspecified -Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate oboInOwl:hasDbXref OMIM:618384 Unspecified -Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate skos:exactMatch OMIM:618384 Unspecified -Orphanet:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref ICD10:G11.8 Unspecified -Orphanet:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref OMIM:616053 Unspecified -Orphanet:423275 Spinocerebellar ataxia type 40 skos:exactMatch OMIM:616053 Unspecified -Orphanet:423275 Spinocerebellar ataxia type 40 skos:broadMatch ICD10:G11.8 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref UMLS:C0264955 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref OMIM:614473 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref UMLS:C1859727 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref MESH:C537440 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref ICD10:Q28.8 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref OMIM:208000 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy skos:exactMatch OMIM:208000 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy skos:broadMatch ICD10:Q28.8 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy skos:exactMatch UMLS:C1859727 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy skos:exactMatch MESH:C537440 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy skos:exactMatch UMLS:C0264955 Unspecified -Orphanet:51608 Generalized arterial calcification of infancy skos:exactMatch OMIM:614473 Unspecified -Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia oboInOwl:hasDbXref OMIM:219080 Unspecified -Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia oboInOwl:hasDbXref ICD10:E24.8 Unspecified -Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia oboInOwl:hasDbXref OMIM:615954 Unspecified -Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia skos:narrowMatch OMIM:615954 Unspecified -Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia skos:broadMatch ICD10:E24.8 Unspecified -Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch OMIM:219080 Unspecified -Orphanet:494418 Vulvar carcinoma oboInOwl:hasDbXref ICD10:C51.8 Unspecified -Orphanet:494418 Vulvar carcinoma skos:exactMatch ICD10:C51.8 Unspecified -Orphanet:458798 Spinocerebellar ataxia type 41 oboInOwl:hasDbXref ICD10:G11.2 Unspecified -Orphanet:458798 Spinocerebellar ataxia type 41 oboInOwl:hasDbXref OMIM:616410 Unspecified -Orphanet:458798 Spinocerebellar ataxia type 41 skos:exactMatch OMIM:616410 Unspecified -Orphanet:458798 Spinocerebellar ataxia type 41 skos:broadMatch ICD10:G11.2 Unspecified -Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref OMIM:180730 Unspecified -Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref UMLS:C1867147 Unspecified -Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref MESH:C535870 Unspecified -Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref ICD10:L98.8 Unspecified -Orphanet:3110 Rombo syndrome skos:exactMatch MESH:C535870 Unspecified -Orphanet:3110 Rombo syndrome skos:exactMatch UMLS:C1867147 Unspecified -Orphanet:3110 Rombo syndrome skos:broadMatch ICD10:L98.8 Unspecified -Orphanet:3110 Rombo syndrome skos:exactMatch OMIM:180730 Unspecified -Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome oboInOwl:hasDbXref OMIM:618097 Unspecified -Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:narrowMatch OMIM:618097 Unspecified -Orphanet:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref OMIM:180800 Unspecified -Orphanet:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref UMLS:C0205713 Unspecified -Orphanet:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:3115 Roussy-Lévy syndrome skos:exactMatch UMLS:C0205713 Unspecified -Orphanet:3115 Roussy-Lévy syndrome skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:3115 Roussy-Lévy syndrome skos:exactMatch OMIM:180800 Unspecified -Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref UMLS:C0220991 Unspecified -Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref MedDRA:10039234 Unspecified -Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref OMIM:237450 Unspecified -Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref ICD10:E80.6 Unspecified -Orphanet:3111 Rotor syndrome skos:broadMatch ICD10:E80.6 Unspecified -Orphanet:3111 Rotor syndrome skos:exactMatch OMIM:237450 Unspecified -Orphanet:3111 Rotor syndrome skos:exactMatch UMLS:C0220991 Unspecified -Orphanet:3111 Rotor syndrome skos:exactMatch MedDRA:10039234 Unspecified -Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref MESH:C536697 Unspecified -Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref ICD10:D81.8 Unspecified -Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref OMIM:193670 Unspecified -Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref UMLS:C0472817 Unspecified -Orphanet:51636 WHIM syndrome skos:exactMatch UMLS:C0472817 Unspecified -Orphanet:51636 WHIM syndrome skos:exactMatch MESH:C536697 Unspecified -Orphanet:51636 WHIM syndrome skos:exactMatch OMIM:193670 Unspecified -Orphanet:51636 WHIM syndrome skos:broadMatch ICD10:D81.8 Unspecified -Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency oboInOwl:hasDbXref ICD10:E70.1 Unspecified -Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency oboInOwl:hasDbXref OMIM:617384 Unspecified -Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency skos:exactMatch OMIM:617384 Unspecified -Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency skos:broadMatch ICD10:E70.1 Unspecified -Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 Unspecified -Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1291230 Unspecified -Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231530 Unspecified -Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:609975 Unspecified -Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231530 Unspecified -Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:609975 Unspecified -Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C1291230 Unspecified -Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:broadMatch ICD10:E71.3 Unspecified -Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref ICD10:G36.0 Unspecified -Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref UMLS:C0027873 Unspecified -Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref MedDRA:10029322 Unspecified -Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref MESH:D009471 Unspecified -Orphanet:71211 Neuromyelitis optica spectrum disorder skos:exactMatch MedDRA:10029322 Unspecified -Orphanet:71211 Neuromyelitis optica spectrum disorder skos:exactMatch MESH:D009471 Unspecified -Orphanet:71211 Neuromyelitis optica spectrum disorder skos:exactMatch UMLS:C0027873 Unspecified -Orphanet:71211 Neuromyelitis optica spectrum disorder skos:exactMatch ICD10:G36.0 Unspecified -Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref OMIM:268900 Unspecified -Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref MESH:C537236 Unspecified -Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref UMLS:C0268563 Unspecified -Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref MedDRA:10059299 Unspecified -Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref ICD10:E72.5 Unspecified -Orphanet:3129 Sarcosinemia skos:exactMatch MedDRA:10059299 Unspecified -Orphanet:3129 Sarcosinemia skos:exactMatch UMLS:C0268563 Unspecified -Orphanet:3129 Sarcosinemia skos:exactMatch MESH:C537236 Unspecified -Orphanet:3129 Sarcosinemia skos:exactMatch OMIM:268900 Unspecified -Orphanet:3129 Sarcosinemia skos:broadMatch ICD10:E72.5 Unspecified -Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref ICD10:L92.2 Unspecified -Orphanet:615943 Granuloma faciale skos:exactMatch ICD10:L92.2 Unspecified -Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy oboInOwl:hasDbXref OMIM:617294 Unspecified -Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy skos:exactMatch OMIM:617294 Unspecified -Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref ICD10:E72.3 Unspecified -Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref UMLS:C0268556 Unspecified -Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref UMLS:C2936921 Unspecified -Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref MESH:C537218 Unspecified -Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref OMIM:268700 Unspecified -Orphanet:3124 Saccharopinuria skos:exactMatch UMLS:C2936921 Unspecified -Orphanet:3124 Saccharopinuria skos:exactMatch UMLS:C0268556 Unspecified -Orphanet:3124 Saccharopinuria skos:exactMatch MESH:C537218 Unspecified -Orphanet:3124 Saccharopinuria skos:exactMatch OMIM:268700 Unspecified -Orphanet:3124 Saccharopinuria skos:broadMatch ICD10:E72.3 Unspecified -Orphanet:71213 Retinal capillary malformation oboInOwl:hasDbXref UMLS:C0730304 Unspecified -Orphanet:71213 Retinal capillary malformation oboInOwl:hasDbXref ICD10:D18.0 Unspecified -Orphanet:71213 Retinal capillary malformation skos:exactMatch UMLS:C0730304 Unspecified -Orphanet:71213 Retinal capillary malformation skos:broadMatch ICD10:D18.0 Unspecified -Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref UMLS:C1848029 Unspecified -Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref OMIM:606408 Unspecified -Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 skos:exactMatch UMLS:C1848029 Unspecified -Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 skos:exactMatch OMIM:606408 Unspecified -Orphanet:248111 Juvenile Huntington disease oboInOwl:hasDbXref ICD10:G10 Unspecified -Orphanet:248111 Juvenile Huntington disease oboInOwl:hasDbXref UMLS:C0751208 Unspecified -Orphanet:248111 Juvenile Huntington disease oboInOwl:hasDbXref OMIM:143100 Unspecified -Orphanet:248111 Juvenile Huntington disease skos:exactMatch UMLS:C0751208 Unspecified -Orphanet:248111 Juvenile Huntington disease skos:broadMatch ICD10:G10 Unspecified -Orphanet:248111 Juvenile Huntington disease skos:broadMatch OMIM:143100 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0022340 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204500 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:600143 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:601780 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610951 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256731 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256730 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204500 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256731 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610951 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:601780 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis skos:broadMatch ICD10:E75.4 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:600143 Unspecified -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C0022340 Unspecified -Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref OMIM:607432 Unspecified -Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref ICD10:Q04.3 Unspecified -Orphanet:95232 Lissencephaly due to LIS1 mutation skos:broadMatch ICD10:Q04.3 Unspecified -Orphanet:95232 Lissencephaly due to LIS1 mutation skos:exactMatch OMIM:607432 Unspecified -Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref OMIM:616052 Unspecified -Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 skos:exactMatch OMIM:616052 Unspecified -Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref OMIM:608807 Unspecified -Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref UMLS:C1837342 Unspecified -Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 skos:exactMatch UMLS:C1837342 Unspecified -Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 skos:exactMatch OMIM:608807 Unspecified -Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref ICD10:H35.2 Unspecified -Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref OMIM:193235 Unspecified -Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy skos:broadMatch ICD10:H35.2 Unspecified -Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy skos:exactMatch OMIM:193235 Unspecified -Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome oboInOwl:hasDbXref OMIM:615156 Unspecified -Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome skos:exactMatch OMIM:615156 Unspecified -Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:401859 Lipoic acid synthetase deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:401859 Lipoic acid synthetase deficiency oboInOwl:hasDbXref OMIM:614462 Unspecified -Orphanet:401859 Lipoic acid synthetase deficiency skos:exactMatch OMIM:614462 Unspecified -Orphanet:401859 Lipoic acid synthetase deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref UMLS:C0220669 Unspecified -Orphanet:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref OMIM:607745 Unspecified -Orphanet:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref MedDRA:10067866 Unspecified -Orphanet:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:140927 Benign familial neonatal-infantile seizures skos:broadMatch OMIM:607745 Unspecified -Orphanet:140927 Benign familial neonatal-infantile seizures skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:140927 Benign familial neonatal-infantile seizures skos:exactMatch MedDRA:10067866 Unspecified -Orphanet:140927 Benign familial neonatal-infantile seizures skos:exactMatch UMLS:C0220669 Unspecified -Orphanet:306577 Sodium channelopathy-related small fiber neuropathy oboInOwl:hasDbXref OMIM:133020 Unspecified -Orphanet:306577 Sodium channelopathy-related small fiber neuropathy oboInOwl:hasDbXref OMIM:615551 Unspecified -Orphanet:306577 Sodium channelopathy-related small fiber neuropathy oboInOwl:hasDbXref ICD10:G99.1 Unspecified -Orphanet:306577 Sodium channelopathy-related small fiber neuropathy skos:broadMatch OMIM:133020 Unspecified -Orphanet:306577 Sodium channelopathy-related small fiber neuropathy skos:broadMatch ICD10:G99.1 Unspecified -Orphanet:306577 Sodium channelopathy-related small fiber neuropathy skos:narrowMatch OMIM:615551 Unspecified -Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref ICD10:I67.6 Unspecified -Orphanet:329217 Cerebral sinovenous thrombosis skos:broadMatch ICD10:I67.6 Unspecified -Orphanet:401866 Childhood-onset spasticity with hyperglycinemia oboInOwl:hasDbXref OMIM:616859 Unspecified -Orphanet:401866 Childhood-onset spasticity with hyperglycinemia oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:401866 Childhood-onset spasticity with hyperglycinemia skos:exactMatch OMIM:616859 Unspecified -Orphanet:401866 Childhood-onset spasticity with hyperglycinemia skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C1857034 Unspecified -Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:225320 Unspecified -Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome skos:exactMatch UMLS:C1857034 Unspecified -Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome skos:exactMatch OMIM:225320 Unspecified -Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:401862 Lipoyl transferase 1 deficiency oboInOwl:hasDbXref OMIM:616299 Unspecified -Orphanet:401862 Lipoyl transferase 1 deficiency oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:401862 Lipoyl transferase 1 deficiency skos:exactMatch OMIM:616299 Unspecified -Orphanet:401862 Lipoyl transferase 1 deficiency skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:502444 Alkaline ceramidase 3 deficiency oboInOwl:hasDbXref OMIM:617762 Unspecified -Orphanet:502444 Alkaline ceramidase 3 deficiency oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:502444 Alkaline ceramidase 3 deficiency skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:502444 Alkaline ceramidase 3 deficiency skos:exactMatch OMIM:617762 Unspecified -Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref ICD10:J34.8 Unspecified -Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref UMLS:C3698095 Unspecified -Orphanet:71276 Silent sinus syndrome skos:exactMatch UMLS:C3698095 Unspecified -Orphanet:71276 Silent sinus syndrome skos:broadMatch ICD10:J34.8 Unspecified -Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref OMIM:268150 Unspecified -Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref ICD10:D58.8 Unspecified -Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref UMLS:C1849387 Unspecified -Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref UMLS:C0272052 Unspecified -Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref OMIM:617970 Unspecified -Orphanet:71275 Rh deficiency syndrome skos:exactMatch UMLS:C0272052 Unspecified -Orphanet:71275 Rh deficiency syndrome skos:exactMatch UMLS:C1849387 Unspecified -Orphanet:71275 Rh deficiency syndrome skos:broadMatch ICD10:D58.8 Unspecified -Orphanet:71275 Rh deficiency syndrome skos:narrowMatch OMIM:617970 Unspecified -Orphanet:71275 Rh deficiency syndrome skos:broadMatch OMIM:268150 Unspecified -Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref OMIM:610015 Unspecified -Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref ICD10:E72.8 Unspecified -Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch OMIM:610015 Unspecified -Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency skos:broadMatch ICD10:E72.8 Unspecified -Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref UMLS:C2936797 Unspecified -Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref OMIM:278000 Unspecified -Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref ICD10:E75.5 Unspecified -Orphanet:275761 Lysosomal acid lipase deficiency skos:exactMatch UMLS:C2936797 Unspecified -Orphanet:275761 Lysosomal acid lipase deficiency skos:exactMatch OMIM:278000 Unspecified -Orphanet:275761 Lysosomal acid lipase deficiency skos:broadMatch ICD10:E75.5 Unspecified -Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref UMLS:C1847501 Unspecified -Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref OMIM:606777 Unspecified -Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome skos:exactMatch OMIM:606777 Unspecified -Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome skos:exactMatch UMLS:C1847501 Unspecified -Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref ICD10:G24.8 Unspecified -Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref MESH:C537234 Unspecified -Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref UMLS:C0338465 Unspecified -Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref MedDRA:10066142 Unspecified -Orphanet:71272 Sandifer syndrome skos:exactMatch UMLS:C0338465 Unspecified -Orphanet:71272 Sandifer syndrome skos:exactMatch MedDRA:10066142 Unspecified -Orphanet:71272 Sandifer syndrome skos:broadMatch ICD10:G24.8 Unspecified -Orphanet:71272 Sandifer syndrome skos:exactMatch MESH:C537234 Unspecified -Orphanet:294023 Neonatal inflammatory skin and bowel disease oboInOwl:hasDbXref OMIM:616069 Unspecified -Orphanet:294023 Neonatal inflammatory skin and bowel disease oboInOwl:hasDbXref OMIM:614328 Unspecified -Orphanet:294023 Neonatal inflammatory skin and bowel disease skos:narrowMatch OMIM:616069 Unspecified -Orphanet:294023 Neonatal inflammatory skin and bowel disease skos:narrowMatch OMIM:614328 Unspecified -Orphanet:71274 Disseminated peritoneal leiomyomatosis oboInOwl:hasDbXref ICD10:D20.1 Unspecified -Orphanet:71274 Disseminated peritoneal leiomyomatosis skos:broadMatch ICD10:D20.1 Unspecified -Orphanet:71273 Renal nutcracker syndrome oboInOwl:hasDbXref ICD10:Q64.8 Unspecified -Orphanet:71273 Renal nutcracker syndrome oboInOwl:hasDbXref MESH:D059228 Unspecified -Orphanet:71273 Renal nutcracker syndrome oboInOwl:hasDbXref UMLS:C3178770 Unspecified -Orphanet:71273 Renal nutcracker syndrome skos:broadMatch ICD10:Q64.8 Unspecified -Orphanet:71273 Renal nutcracker syndrome skos:exactMatch MESH:D059228 Unspecified -Orphanet:71273 Renal nutcracker syndrome skos:exactMatch UMLS:C3178770 Unspecified -Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref ICD10:G61.8 Unspecified -Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref UMLS:C2931684 Unspecified -Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref MESH:C537980 Unspecified -Orphanet:71279 CANOMAD syndrome skos:exactMatch MESH:C537980 Unspecified -Orphanet:71279 CANOMAD syndrome skos:broadMatch ICD10:G61.8 Unspecified -Orphanet:71279 CANOMAD syndrome skos:exactMatch UMLS:C2931684 Unspecified -Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:458758 Composite hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 Unspecified -Orphanet:458758 Composite hemangioendothelioma skos:broadMatch ICD10:D48.1 Unspecified -Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q79.6 Unspecified -Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:619115 Unspecified -Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:619120 Unspecified -Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:broadMatch ICD10:Q79.6 Unspecified -Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:narrowMatch OMIM:619120 Unspecified -Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:narrowMatch OMIM:619115 Unspecified -Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 oboInOwl:hasDbXref OMIM:605711 Unspecified -Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 skos:exactMatch OMIM:605711 Unspecified -Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:100003 Intraneural perineurioma oboInOwl:hasDbXref UMLS:C1370658 Unspecified -Orphanet:100003 Intraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 Unspecified -Orphanet:100003 Intraneural perineurioma skos:narrowMatch ICD10:D36.1 Unspecified -Orphanet:100003 Intraneural perineurioma skos:exactMatch UMLS:C1370658 Unspecified -Orphanet:101334 African tick typhus oboInOwl:hasDbXref ICD10:A77.1 Unspecified -Orphanet:101334 African tick typhus skos:broadMatch ICD10:A77.1 Unspecified -Orphanet:401835 Autosomal recessive spastic paraplegia type 70 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401835 Autosomal recessive spastic paraplegia type 70 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref UMLS:C0162566 Unspecified -Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref MESH:D017119 Unspecified -Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176100 Unspecified -Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref MedDRA:10036183 Unspecified -Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176090 Unspecified -Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 Unspecified -Orphanet:101330 Porphyria cutanea tarda skos:narrowMatch OMIM:176090 Unspecified -Orphanet:101330 Porphyria cutanea tarda skos:exactMatch ICD10:E80.1 Unspecified -Orphanet:101330 Porphyria cutanea tarda skos:exactMatch MedDRA:10036183 Unspecified -Orphanet:101330 Porphyria cutanea tarda skos:narrowMatch OMIM:176100 Unspecified -Orphanet:101330 Porphyria cutanea tarda skos:exactMatch MESH:D017119 Unspecified -Orphanet:101330 Porphyria cutanea tarda skos:exactMatch UMLS:C0162566 Unspecified -Orphanet:100002 Extraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 Unspecified -Orphanet:100002 Extraneural perineurioma skos:narrowMatch ICD10:D36.1 Unspecified -Orphanet:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401830 Autosomal recessive spastic paraplegia type 69 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:458763 Retiform hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 Unspecified -Orphanet:458763 Retiform hemangioendothelioma skos:broadMatch ICD10:D48.1 Unspecified -Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement oboInOwl:hasDbXref OMIM:300888 Unspecified -Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement oboInOwl:hasDbXref ICD10:E03.1 Unspecified -Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch OMIM:300888 Unspecified -Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:broadMatch ICD10:E03.1 Unspecified -Orphanet:458768 Primary intralymphatic angioendothelioma oboInOwl:hasDbXref ICD10:D48.1 Unspecified -Orphanet:458768 Primary intralymphatic angioendothelioma skos:broadMatch ICD10:D48.1 Unspecified -Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency oboInOwl:hasDbXref OMIM:614025 Unspecified -Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency oboInOwl:hasDbXref ICD10:E78.4 Unspecified -Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency skos:exactMatch OMIM:614025 Unspecified -Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency skos:broadMatch ICD10:E78.4 Unspecified -Orphanet:401840 Autosomal recessive spastic paraplegia type 71 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401840 Autosomal recessive spastic paraplegia type 71 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref UMLS:C1838327 Unspecified -Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref OMIM:600273 Unspecified -Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch OMIM:600273 Unspecified -Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch UMLS:C1838327 Unspecified -Orphanet:52994 Orbital leiomyoma oboInOwl:hasDbXref ICD10:D31.6 Unspecified -Orphanet:52994 Orbital leiomyoma skos:broadMatch ICD10:D31.6 Unspecified -Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome oboInOwl:hasDbXref OMIM:616295 Unspecified -Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:exactMatch OMIM:616295 Unspecified -Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 oboInOwl:hasDbXref OMIM:617232 Unspecified -Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 skos:exactMatch OMIM:617232 Unspecified -Orphanet:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref OMIM:615625 Unspecified -Orphanet:401849 Autosomal spastic paraplegia type 72 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:401849 Autosomal spastic paraplegia type 72 skos:exactMatch OMIM:615625 Unspecified -Orphanet:3173 Infantile spasms-broad thumbs syndrome oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:3173 Infantile spasms-broad thumbs syndrome skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:308350 Unspecified -Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 Unspecified -Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome skos:broadMatch ICD10:G25.3 Unspecified -Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome skos:broadMatch OMIM:308350 Unspecified -Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref OMIM:601668 Unspecified -Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref UMLS:C1866507 Unspecified -Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch UMLS:C1866507 Unspecified -Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch OMIM:601668 Unspecified -Orphanet:254851 Mitochondrial DNA-related dystonia oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:254851 Mitochondrial DNA-related dystonia skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref UMLS:C1864872 Unspecified -Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref OMIM:610442 Unspecified -Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref MESH:C535785 Unspecified -Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type skos:exactMatch OMIM:610442 Unspecified -Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type skos:exactMatch MESH:C535785 Unspecified -Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type skos:exactMatch UMLS:C1864872 Unspecified -Orphanet:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref OMIM:615598 Unspecified -Orphanet:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref ICD10:Q82.8 Unspecified -Orphanet:140966 Palmoplantar keratoderma, Nagashima type skos:exactMatch OMIM:615598 Unspecified -Orphanet:140966 Palmoplantar keratoderma, Nagashima type skos:broadMatch ICD10:Q82.8 Unspecified -Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome oboInOwl:hasDbXref OMIM:618218 Unspecified -Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome oboInOwl:hasDbXref ICD10:F84.8 Unspecified -Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:exactMatch OMIM:618218 Unspecified -Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:broadMatch ICD10:F84.8 Unspecified -Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref OMIM:551000 Unspecified -Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref UMLS:C1838876 Unspecified -Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:254857 Lethal infantile mitochondrial myopathy skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:254857 Lethal infantile mitochondrial myopathy skos:exactMatch OMIM:551000 Unspecified -Orphanet:254857 Lethal infantile mitochondrial myopathy skos:exactMatch UMLS:C1838876 Unspecified -Orphanet:254854 Pure mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:254854 Pure mitochondrial myopathy skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref MESH:C535463 Unspecified -Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref ICD10:Q87.5 Unspecified -Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref UMLS:C1849437 Unspecified -Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref OMIM:266920 Unspecified -Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref OMIM:615630 Unspecified -Orphanet:140969 Saldino-Mainzer syndrome skos:broadMatch OMIM:615630 Unspecified -Orphanet:140969 Saldino-Mainzer syndrome skos:exactMatch MESH:C535463 Unspecified -Orphanet:140969 Saldino-Mainzer syndrome skos:exactMatch UMLS:C1849437 Unspecified -Orphanet:140969 Saldino-Mainzer syndrome skos:broadMatch ICD10:Q87.5 Unspecified -Orphanet:140969 Saldino-Mainzer syndrome skos:narrowMatch OMIM:266920 Unspecified -Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:613856 Unspecified -Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:610024 Unspecified -Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:262300 Unspecified -Orphanet:49382 Achromatopsia oboInOwl:hasDbXref MedDRA:10000454 Unspecified -Orphanet:49382 Achromatopsia oboInOwl:hasDbXref ICD10:H53.5 Unspecified -Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:216900 Unspecified -Orphanet:49382 Achromatopsia oboInOwl:hasDbXref UMLS:C0152200 Unspecified -Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:616517 Unspecified -Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:613093 Unspecified -Orphanet:49382 Achromatopsia skos:exactMatch OMIM:216900 Unspecified -Orphanet:49382 Achromatopsia skos:narrowMatch OMIM:262300 Unspecified -Orphanet:49382 Achromatopsia skos:narrowMatch OMIM:613856 Unspecified -Orphanet:49382 Achromatopsia skos:narrowMatch OMIM:610024 Unspecified -Orphanet:49382 Achromatopsia skos:exactMatch UMLS:C0152200 Unspecified -Orphanet:49382 Achromatopsia skos:narrowMatch OMIM:616517 Unspecified -Orphanet:49382 Achromatopsia skos:broadMatch OMIM:613093 Unspecified -Orphanet:49382 Achromatopsia skos:broadMatch ICD10:H53.5 Unspecified -Orphanet:49382 Achromatopsia skos:exactMatch MedDRA:10000454 Unspecified -Orphanet:458718 Idiopathic spontaneous coronary artery dissection oboInOwl:hasDbXref ICD10:I25.4 Unspecified -Orphanet:458718 Idiopathic spontaneous coronary artery dissection oboInOwl:hasDbXref OMIM:122455 Unspecified -Orphanet:458718 Idiopathic spontaneous coronary artery dissection skos:exactMatch OMIM:122455 Unspecified -Orphanet:458718 Idiopathic spontaneous coronary artery dissection skos:broadMatch ICD10:I25.4 Unspecified -Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome oboInOwl:hasDbXref OMIM:615084 Unspecified -Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome skos:exactMatch OMIM:615084 Unspecified -Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:213574 Rare variants of adenocarcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 Unspecified -Orphanet:213574 Rare variants of adenocarcinoma of the corpus uteri skos:broadMatch ICD10:C54.1 Unspecified -Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:615193 Unspecified -Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:613112 Unspecified -Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:619271 Unspecified -Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:187800 Unspecified -Orphanet:140957 Autosomal dominant macrothrombocytopenia skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:140957 Autosomal dominant macrothrombocytopenia skos:narrowMatch OMIM:615193 Unspecified -Orphanet:140957 Autosomal dominant macrothrombocytopenia skos:broadMatch OMIM:187800 Unspecified -Orphanet:140957 Autosomal dominant macrothrombocytopenia skos:narrowMatch OMIM:619271 Unspecified -Orphanet:140957 Autosomal dominant macrothrombocytopenia skos:narrowMatch OMIM:613112 Unspecified -Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome oboInOwl:hasDbXref UMLS:C2931508 Unspecified -Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome oboInOwl:hasDbXref ICD10:K76.8 Unspecified -Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome skos:broadMatch ICD10:K76.8 Unspecified -Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome skos:exactMatch UMLS:C2931508 Unspecified -Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:614618 Unspecified -Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref UMLS:C1835614 Unspecified -Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:149400 Unspecified -Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:614619 Unspecified -Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 Unspecified -Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:618011 Unspecified -Orphanet:3197 Hereditary hyperekplexia skos:exactMatch UMLS:C1835614 Unspecified -Orphanet:3197 Hereditary hyperekplexia skos:broadMatch ICD10:G25.8 Unspecified -Orphanet:3197 Hereditary hyperekplexia skos:exactMatch OMIM:149400 Unspecified -Orphanet:3197 Hereditary hyperekplexia skos:narrowMatch OMIM:618011 Unspecified -Orphanet:3197 Hereditary hyperekplexia skos:narrowMatch OMIM:614619 Unspecified -Orphanet:3197 Hereditary hyperekplexia skos:narrowMatch OMIM:614618 Unspecified -Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref ICD10:G25.8 Unspecified -Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref OMIM:184850 Unspecified -Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref UMLS:C0085292 Unspecified -Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref MedDRA:10042044 Unspecified -Orphanet:3198 Stiff person spectrum disorder skos:exactMatch UMLS:C0085292 Unspecified -Orphanet:3198 Stiff person spectrum disorder skos:exactMatch MedDRA:10042044 Unspecified -Orphanet:3198 Stiff person spectrum disorder skos:exactMatch OMIM:184850 Unspecified -Orphanet:3198 Stiff person spectrum disorder skos:broadMatch ICD10:G25.8 Unspecified -Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref UMLS:C1847902 Unspecified -Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref OMIM:606482 Unspecified -Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B skos:exactMatch OMIM:606482 Unspecified -Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B skos:exactMatch UMLS:C1847902 Unspecified -Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref UMLS:C1847896 Unspecified -Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref OMIM:606483 Unspecified -Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A skos:exactMatch OMIM:606483 Unspecified -Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A skos:exactMatch UMLS:C1847896 Unspecified -Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref OMIM:609560 Unspecified -Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref UMLS:C3501891 Unspecified -Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref OMIM:618972 Unspecified -Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form skos:narrowMatch OMIM:609560 Unspecified -Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch UMLS:C3501891 Unspecified -Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form skos:narrowMatch OMIM:618972 Unspecified -Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:hasDbXref OMIM:614299 Unspecified -Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 skos:exactMatch OMIM:614299 Unspecified -Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref OMIM:607791 Unspecified -Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref UMLS:C1843075 Unspecified -Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D skos:exactMatch UMLS:C1843075 Unspecified -Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D skos:exactMatch OMIM:607791 Unspecified -Orphanet:502499 Erythema multiforme major oboInOwl:hasDbXref ICD10:L51.8 Unspecified -Orphanet:502499 Erythema multiforme major skos:broadMatch ICD10:L51.8 Unspecified -Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref OMIM:608323 Unspecified -Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref UMLS:C1842237 Unspecified -Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C skos:exactMatch UMLS:C1842237 Unspecified -Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C skos:exactMatch OMIM:608323 Unspecified -Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref ICD10:Q02 Unspecified -Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref OMIM:614231 Unspecified -Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref OMIM:619278 Unspecified -Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome skos:broadMatch ICD10:Q02 Unspecified -Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome skos:narrowMatch OMIM:619278 Unspecified -Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome skos:narrowMatch OMIM:614231 Unspecified -Orphanet:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref OMIM:615961 Unspecified -Orphanet:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref ICD10:E34.3 Unspecified -Orphanet:140941 Short stature due to primary acid-labile subunit deficiency skos:exactMatch OMIM:615961 Unspecified -Orphanet:140941 Short stature due to primary acid-labile subunit deficiency skos:broadMatch ICD10:E34.3 Unspecified -Orphanet:306550 FADD-related immunodeficiency oboInOwl:hasDbXref ICD10:D89.8 Unspecified -Orphanet:306550 FADD-related immunodeficiency oboInOwl:hasDbXref OMIM:613759 Unspecified -Orphanet:306550 FADD-related immunodeficiency skos:exactMatch OMIM:613759 Unspecified -Orphanet:306550 FADD-related immunodeficiency skos:broadMatch ICD10:D89.8 Unspecified -Orphanet:581271 Cramp-fasciculation syndrome oboInOwl:hasDbXref ICD10:G90.8 Unspecified -Orphanet:581271 Cramp-fasciculation syndrome skos:broadMatch ICD10:G90.8 Unspecified -Orphanet:306553 Myospherulosis oboInOwl:hasDbXref UMLS:C0027123 Unspecified -Orphanet:306553 Myospherulosis oboInOwl:hasDbXref ICD10:M79.8 Unspecified -Orphanet:306553 Myospherulosis skos:broadMatch ICD10:M79.8 Unspecified -Orphanet:306553 Myospherulosis skos:exactMatch UMLS:C0027123 Unspecified -Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref UMLS:C1832388 Unspecified -Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref ICD10:D69.4 Unspecified -Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref OMIM:601399 Unspecified -Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref OMIM:616216 Unspecified -Orphanet:71290 Familial platelet disorder with associated myeloid malignancy skos:exactMatch OMIM:616216 Unspecified -Orphanet:71290 Familial platelet disorder with associated myeloid malignancy skos:exactMatch UMLS:C1832388 Unspecified -Orphanet:71290 Familial platelet disorder with associated myeloid malignancy skos:broadMatch ICD10:D69.4 Unspecified -Orphanet:71290 Familial platelet disorder with associated myeloid malignancy skos:narrowMatch OMIM:601399 Unspecified -Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref UMLS:C2931004 Unspecified -Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref ICD10:E77.8 Unspecified -Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref OMIM:608093 Unspecified -Orphanet:86309 DPAGT1-CDG skos:exactMatch OMIM:608093 Unspecified -Orphanet:86309 DPAGT1-CDG skos:broadMatch ICD10:E77.8 Unspecified -Orphanet:86309 DPAGT1-CDG skos:exactMatch UMLS:C2931004 Unspecified -Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:500009 Unspecified -Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch OMIM:500009 Unspecified -Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:488594 Autosomal recessive spastic paraplegia type 76 oboInOwl:hasDbXref OMIM:616907 Unspecified -Orphanet:488594 Autosomal recessive spastic paraplegia type 76 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:488594 Autosomal recessive spastic paraplegia type 76 skos:exactMatch OMIM:616907 Unspecified -Orphanet:488594 Autosomal recessive spastic paraplegia type 76 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref ICD10:D80.8 Unspecified -Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:619096 Unspecified -Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:619097 Unspecified -Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:276300 Unspecified -Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:619101 Unspecified -Orphanet:252202 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:619096 Unspecified -Orphanet:252202 Constitutional mismatch repair deficiency syndrome skos:broadMatch ICD10:D80.8 Unspecified -Orphanet:252202 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:276300 Unspecified -Orphanet:252202 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:619097 Unspecified -Orphanet:252202 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:619101 Unspecified -Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref ICD10:D13.4 Unspecified -Orphanet:100035 Solitary necrotic nodule of the liver skos:broadMatch ICD10:D13.4 Unspecified -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 Unspecified -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0027877 Unspecified -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 Unspecified -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C1864670 Unspecified -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C1864670 Unspecified -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 Unspecified -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis skos:broadMatch ICD10:E75.4 Unspecified -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis skos:exactMatch UMLS:C0027877 Unspecified -Orphanet:140933 Linear atrophoderma of Moulin oboInOwl:hasDbXref UMLS:C1274753 Unspecified -Orphanet:140933 Linear atrophoderma of Moulin oboInOwl:hasDbXref ICD10:L90.8 Unspecified -Orphanet:140933 Linear atrophoderma of Moulin skos:broadMatch ICD10:L90.8 Unspecified -Orphanet:140933 Linear atrophoderma of Moulin skos:exactMatch UMLS:C1274753 Unspecified -Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref OMIM:155755 Unspecified -Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref ICD10:D43 Unspecified -Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref UMLS:C1835042 Unspecified -Orphanet:252206 Melanoma and neural system tumor syndrome skos:exactMatch UMLS:C1835042 Unspecified -Orphanet:252206 Melanoma and neural system tumor syndrome skos:broadMatch ICD10:D43 Unspecified -Orphanet:252206 Melanoma and neural system tumor syndrome skos:exactMatch OMIM:155755 Unspecified -Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 oboInOwl:hasDbXref OMIM:616370 Unspecified -Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 skos:exactMatch OMIM:616370 Unspecified -Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.8 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.6 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.4 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.2 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.0 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.5 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.3 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.1 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast skos:narrowMatch ICD10:C50.5 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast skos:narrowMatch ICD10:C50.1 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast skos:narrowMatch ICD10:C50.3 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast skos:narrowMatch ICD10:C50.4 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast skos:narrowMatch ICD10:C50.6 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast skos:narrowMatch ICD10:C50.8 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast skos:narrowMatch ICD10:C50.0 Unspecified -Orphanet:213557 Salivary gland type cancer of the breast skos:narrowMatch ICD10:C50.2 Unspecified -Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref MedDRA:10001019 Unspecified -Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref OMIM:612376 Unspecified -Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref MESH:D015473 Unspecified -Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref ICD10:C92.4 Unspecified -Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref UMLS:C0023487 Unspecified -Orphanet:520 Acute promyelocytic leukemia skos:exactMatch UMLS:C0023487 Unspecified -Orphanet:520 Acute promyelocytic leukemia skos:exactMatch OMIM:612376 Unspecified -Orphanet:520 Acute promyelocytic leukemia skos:exactMatch MESH:D015473 Unspecified -Orphanet:520 Acute promyelocytic leukemia skos:exactMatch ICD10:C92.4 Unspecified -Orphanet:520 Acute promyelocytic leukemia skos:exactMatch MedDRA:10001019 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:609286 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:157640 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:613077 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:610131 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:609283 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:609286 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:609283 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia skos:broadMatch ICD10:H49.4 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:610131 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia skos:exactMatch OMIM:157640 Unspecified -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:613077 Unspecified -Orphanet:100069 Semantic dementia oboInOwl:hasDbXref UMLS:C0338462 Unspecified -Orphanet:100069 Semantic dementia oboInOwl:hasDbXref ICD10:G31.0 Unspecified -Orphanet:100069 Semantic dementia oboInOwl:hasDbXref OMIM:600274 Unspecified -Orphanet:100069 Semantic dementia oboInOwl:hasDbXref OMIM:172700 Unspecified -Orphanet:100069 Semantic dementia skos:broadMatch ICD10:G31.0 Unspecified -Orphanet:100069 Semantic dementia skos:exactMatch UMLS:C0338462 Unspecified -Orphanet:100069 Semantic dementia skos:broadMatch OMIM:172700 Unspecified -Orphanet:100069 Semantic dementia skos:broadMatch OMIM:600274 Unspecified -Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref MedDRA:10009013 Unspecified -Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref OMIM:608232 Unspecified -Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref UMLS:C0023473 Unspecified -Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref ICD10:C92.1 Unspecified -Orphanet:521 Chronic myeloid leukemia skos:exactMatch ICD10:C92.1 Unspecified -Orphanet:521 Chronic myeloid leukemia skos:exactMatch MedDRA:10009013 Unspecified -Orphanet:521 Chronic myeloid leukemia skos:exactMatch OMIM:608232 Unspecified -Orphanet:521 Chronic myeloid leukemia skos:exactMatch UMLS:C0023473 Unspecified -Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref MESH:D016864 Unspecified -Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref ICD10:C97 Unspecified -Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIM:609265 Unspecified -Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIM:151623 Unspecified -Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref UMLS:C0085390 Unspecified -Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref MedDRA:10066795 Unspecified -Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIM:609266 Unspecified -Orphanet:524 Li-Fraumeni syndrome skos:exactMatch MESH:D016864 Unspecified -Orphanet:524 Li-Fraumeni syndrome skos:narrowMatch OMIM:609266 Unspecified -Orphanet:524 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 Unspecified -Orphanet:524 Li-Fraumeni syndrome skos:broadMatch ICD10:C97 Unspecified -Orphanet:524 Li-Fraumeni syndrome skos:exactMatch MedDRA:10066795 Unspecified -Orphanet:524 Li-Fraumeni syndrome skos:exactMatch UMLS:C0085390 Unspecified -Orphanet:524 Li-Fraumeni syndrome skos:narrowMatch OMIM:609265 Unspecified -Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref ICD10:C64 Unspecified -Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref UMLS:C1708350 Unspecified -Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref OMIM:150800 Unspecified -Orphanet:523 Hereditary leiomyomatosis and renal cell cancer skos:broadMatch ICD10:C64 Unspecified -Orphanet:523 Hereditary leiomyomatosis and renal cell cancer skos:exactMatch OMIM:150800 Unspecified -Orphanet:523 Hereditary leiomyomatosis and renal cell cancer skos:exactMatch UMLS:C1708350 Unspecified -Orphanet:526 Liddle syndrome oboInOwl:hasDbXref OMIM:177200 Unspecified -Orphanet:526 Liddle syndrome oboInOwl:hasDbXref ICD10:I15.1 Unspecified -Orphanet:526 Liddle syndrome oboInOwl:hasDbXref MedDRA:10037113 Unspecified -Orphanet:526 Liddle syndrome oboInOwl:hasDbXref OMIM:618114 Unspecified -Orphanet:526 Liddle syndrome oboInOwl:hasDbXref MedDRA:10052313 Unspecified -Orphanet:526 Liddle syndrome oboInOwl:hasDbXref UMLS:C0221043 Unspecified -Orphanet:526 Liddle syndrome oboInOwl:hasDbXref OMIM:618126 Unspecified -Orphanet:526 Liddle syndrome oboInOwl:hasDbXref MESH:D056929 Unspecified -Orphanet:526 Liddle syndrome skos:exactMatch OMIM:618126 Unspecified -Orphanet:526 Liddle syndrome skos:exactMatch MedDRA:10052313 Unspecified -Orphanet:526 Liddle syndrome skos:exactMatch MESH:D056929 Unspecified -Orphanet:526 Liddle syndrome skos:exactMatch UMLS:C0221043 Unspecified -Orphanet:526 Liddle syndrome skos:exactMatch OMIM:618114 Unspecified -Orphanet:526 Liddle syndrome skos:broadMatch ICD10:I15.1 Unspecified -Orphanet:526 Liddle syndrome skos:exactMatch MedDRA:10037113 Unspecified -Orphanet:526 Liddle syndrome skos:exactMatch OMIM:177200 Unspecified -Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref MESH:C535892 Unspecified -Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref UMLS:C0023645 Unspecified -Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref ICD10:L66.1 Unspecified -Orphanet:525 Lichen planopilaris skos:exactMatch MESH:C535892 Unspecified -Orphanet:525 Lichen planopilaris skos:exactMatch ICD10:L66.1 Unspecified -Orphanet:525 Lichen planopilaris skos:exactMatch UMLS:C0023645 Unspecified -Orphanet:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref MESH:C537742 Unspecified -Orphanet:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 Unspecified -Orphanet:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref UMLS:C1275074 Unspecified -Orphanet:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref UMLS:C0796093 Unspecified -Orphanet:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref OMIM:257980 Unspecified -Orphanet:2721 Odonto-onycho-dermal dysplasia skos:broadMatch ICD10:Q82.4 Unspecified -Orphanet:2721 Odonto-onycho-dermal dysplasia skos:exactMatch OMIM:257980 Unspecified -Orphanet:2721 Odonto-onycho-dermal dysplasia skos:exactMatch MESH:C537742 Unspecified -Orphanet:2721 Odonto-onycho-dermal dysplasia skos:exactMatch UMLS:C0796093 Unspecified -Orphanet:2721 Odonto-onycho-dermal dysplasia skos:exactMatch UMLS:C1275074 Unspecified -Orphanet:163649 Spondyloepiphyseal dysplasia, Nishimura type oboInOwl:hasDbXref UMLS:C1865134 Unspecified -Orphanet:163649 Spondyloepiphyseal dysplasia, Nishimura type oboInOwl:hasDbXref OMIM:602611 Unspecified -Orphanet:163649 Spondyloepiphyseal dysplasia, Nishimura type oboInOwl:hasDbXref OMIM:618618 Unspecified -Orphanet:163649 Spondyloepiphyseal dysplasia, Nishimura type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:163649 Spondyloepiphyseal dysplasia, Nishimura type skos:exactMatch OMIM:602611 Unspecified -Orphanet:163649 Spondyloepiphyseal dysplasia, Nishimura type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:163649 Spondyloepiphyseal dysplasia, Nishimura type skos:exactMatch UMLS:C1865134 Unspecified -Orphanet:163649 Spondyloepiphyseal dysplasia, Nishimura type skos:exactMatch OMIM:618618 Unspecified -Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:613327 Unspecified -Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:612526 Unspecified -Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref UMLS:C0221032 Unspecified -Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref UMLS:C0011859 Unspecified -Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:606721 Unspecified -Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:269700 Unspecified -Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:608594 Unspecified -Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref MedDRA:10024603 Unspecified -Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 Unspecified -Orphanet:528 Congenital generalized lipodystrophy skos:broadMatch ICD10:E88.1 Unspecified -Orphanet:528 Congenital generalized lipodystrophy skos:exactMatch MedDRA:10024603 Unspecified -Orphanet:528 Congenital generalized lipodystrophy skos:exactMatch UMLS:C0011859 Unspecified -Orphanet:528 Congenital generalized lipodystrophy skos:narrowMatch OMIM:269700 Unspecified -Orphanet:528 Congenital generalized lipodystrophy skos:narrowMatch OMIM:608594 Unspecified -Orphanet:528 Congenital generalized lipodystrophy skos:narrowMatch OMIM:612526 Unspecified -Orphanet:528 Congenital generalized lipodystrophy skos:narrowMatch OMIM:613327 Unspecified -Orphanet:528 Congenital generalized lipodystrophy skos:exactMatch UMLS:C0221032 Unspecified -Orphanet:528 Congenital generalized lipodystrophy skos:broadMatch OMIM:606721 Unspecified -Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref OMIM:614651 Unspecified -Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:exactMatch OMIM:614651 Unspecified -Orphanet:529 Roch-Leri mesosomatous lipomatosis oboInOwl:hasDbXref ICD10:E88.2 Unspecified -Orphanet:529 Roch-Leri mesosomatous lipomatosis skos:broadMatch ICD10:E88.2 Unspecified -Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref UMLS:C1843851 Unspecified -Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref ICD10:E88.8 Unspecified -Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref OMIM:607459 Unspecified -Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref UMLS:C1843852 Unspecified -Orphanet:254881 Spinocerebellar ataxia with epilepsy skos:broadMatch OMIM:607459 Unspecified -Orphanet:254881 Spinocerebellar ataxia with epilepsy skos:exactMatch UMLS:C1843852 Unspecified -Orphanet:254881 Spinocerebellar ataxia with epilepsy skos:broadMatch ICD10:E88.8 Unspecified -Orphanet:254881 Spinocerebellar ataxia with epilepsy skos:exactMatch UMLS:C1843851 Unspecified -Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref OMIM:615135 Unspecified -Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 Unspecified -Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 Unspecified -Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref MedDRA:10026817 Unspecified -Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref UMLS:C0268576 Unspecified -Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref MESH:D008375 Unspecified -Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref UMLS:C0024776 Unspecified -Orphanet:511 Maple syrup urine disease skos:exactMatch UMLS:C0268576 Unspecified -Orphanet:511 Maple syrup urine disease skos:exactMatch MedDRA:10026817 Unspecified -Orphanet:511 Maple syrup urine disease skos:exactMatch ICD10:E71.0 Unspecified -Orphanet:511 Maple syrup urine disease skos:narrowMatch OMIM:615135 Unspecified -Orphanet:511 Maple syrup urine disease skos:exactMatch OMIM:248600 Unspecified -Orphanet:511 Maple syrup urine disease skos:exactMatch UMLS:C0024776 Unspecified -Orphanet:511 Maple syrup urine disease skos:exactMatch MESH:D008375 Unspecified -Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref OMIM:300322 Unspecified -Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref MedDRA:10057589 Unspecified -Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref UMLS:C0023374 Unspecified -Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref ICD10:E79.1 Unspecified -Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref OMIM:308950 Unspecified -Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref MESH:D007926 Unspecified -Orphanet:510 Lesch-Nyhan syndrome skos:exactMatch OMIM:300322 Unspecified -Orphanet:510 Lesch-Nyhan syndrome skos:exactMatch MedDRA:10057589 Unspecified -Orphanet:510 Lesch-Nyhan syndrome skos:exactMatch MESH:D007926 Unspecified -Orphanet:510 Lesch-Nyhan syndrome skos:exactMatch ICD10:E79.1 Unspecified -Orphanet:510 Lesch-Nyhan syndrome skos:exactMatch UMLS:C0023374 Unspecified -Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MESH:C538597 Unspecified -Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MESH:D007966 Unspecified -Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 Unspecified -Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:250100 Unspecified -Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:249900 Unspecified -Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref UMLS:C0023522 Unspecified -Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref UMLS:C2713319 Unspecified -Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MedDRA:10067609 Unspecified -Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:156310 Unspecified -Orphanet:512 Metachromatic leukodystrophy skos:exactMatch MESH:D007966 Unspecified -Orphanet:512 Metachromatic leukodystrophy skos:narrowMatch OMIM:156310 Unspecified -Orphanet:512 Metachromatic leukodystrophy skos:broadMatch ICD10:E75.2 Unspecified -Orphanet:512 Metachromatic leukodystrophy skos:narrowMatch OMIM:249900 Unspecified -Orphanet:512 Metachromatic leukodystrophy skos:exactMatch MESH:C538597 Unspecified -Orphanet:512 Metachromatic leukodystrophy skos:exactMatch MedDRA:10067609 Unspecified -Orphanet:512 Metachromatic leukodystrophy skos:exactMatch UMLS:C0023522 Unspecified -Orphanet:512 Metachromatic leukodystrophy skos:exactMatch UMLS:C2713319 Unspecified -Orphanet:512 Metachromatic leukodystrophy skos:exactMatch OMIM:250100 Unspecified -Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:617069 Unspecified -Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:258450 Unspecified -Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 Unspecified -Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C1850303 Unspecified -Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia skos:exactMatch UMLS:C1850303 Unspecified -Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia skos:narrowMatch OMIM:617069 Unspecified -Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia skos:broadMatch ICD10:H49.4 Unspecified -Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia skos:narrowMatch OMIM:258450 Unspecified -Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref ICD10:T78.3 Unspecified -Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref OMIM:300909 Unspecified -Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema skos:narrowMatch OMIM:300909 Unspecified -Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema skos:broadMatch ICD10:T78.3 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref MedDRA:10059439 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref ICD10:C92.7 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref MedDRA:10000871 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref UMLS:C0457334 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref UMLS:C1318544 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref UMLS:C0023465 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref MESH:D007948 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia skos:exactMatch MESH:D007948 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia skos:exactMatch UMLS:C0023465 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia skos:exactMatch UMLS:C1318544 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia skos:exactMatch MedDRA:10059439 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia skos:broadMatch ICD10:C92.7 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia skos:exactMatch MedDRA:10000871 Unspecified -Orphanet:514 Acute monoblastic/monocytic leukemia skos:exactMatch UMLS:C0457334 Unspecified -Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInOwl:hasDbXref OMIM:615386 Unspecified -Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 Unspecified -Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia skos:exactMatch OMIM:615386 Unspecified -Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia skos:broadMatch ICD10:G11.1 Unspecified -Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref OMIM:611717 Unspecified -Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref UMLS:C2673649 Unspecified -Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome skos:exactMatch OMIM:611717 Unspecified -Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome skos:exactMatch UMLS:C2673649 Unspecified -Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome oboInOwl:hasDbXref OMIM:614748 Unspecified -Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome skos:exactMatch OMIM:614748 Unspecified -Orphanet:399058 Alpha-B crystallin-related late-onset myopathy oboInOwl:hasDbXref OMIM:608810 Unspecified -Orphanet:399058 Alpha-B crystallin-related late-onset myopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:399058 Alpha-B crystallin-related late-onset myopathy skos:exactMatch OMIM:608810 Unspecified -Orphanet:399058 Alpha-B crystallin-related late-onset myopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref ICD10:B73 Unspecified -Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref MedDRA:10030314 Unspecified -Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref UMLS:C0029002 Unspecified -Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref UMLS:C0029001 Unspecified -Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref MESH:D009855 Unspecified -Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref MedDRA:10039202 Unspecified -Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref MESH:D015827 Unspecified -Orphanet:2737 Onchocerciasis skos:exactMatch MedDRA:10039202 Unspecified -Orphanet:2737 Onchocerciasis skos:exactMatch MESH:D009855 Unspecified -Orphanet:2737 Onchocerciasis skos:exactMatch UMLS:C0029001 Unspecified -Orphanet:2737 Onchocerciasis skos:exactMatch MESH:D015827 Unspecified -Orphanet:2737 Onchocerciasis skos:exactMatch ICD10:B73 Unspecified -Orphanet:2737 Onchocerciasis skos:exactMatch UMLS:C0029002 Unspecified -Orphanet:2737 Onchocerciasis skos:exactMatch MedDRA:10030314 Unspecified -Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C92.5 Unspecified -Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0023479 Unspecified -Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref MedDRA:10000890 Unspecified -Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref MESH:D015479 Unspecified -Orphanet:517 Acute myelomonocytic leukemia skos:exactMatch MedDRA:10000890 Unspecified -Orphanet:517 Acute myelomonocytic leukemia skos:exactMatch MESH:D015479 Unspecified -Orphanet:517 Acute myelomonocytic leukemia skos:exactMatch UMLS:C0023479 Unspecified -Orphanet:517 Acute myelomonocytic leukemia skos:exactMatch ICD10:C92.5 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.3 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.5 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.1 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref UMLS:C1334708 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.8 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.4 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.6 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast skos:narrowMatch ICD10:C50.4 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast skos:narrowMatch ICD10:C50.2 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast skos:narrowMatch ICD10:C50.0 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast skos:narrowMatch ICD10:C50.8 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast skos:narrowMatch ICD10:C50.6 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast skos:exactMatch UMLS:C1334708 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast skos:narrowMatch ICD10:C50.3 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast skos:narrowMatch ICD10:C50.1 Unspecified -Orphanet:213531 Metaplastic carcinoma of the breast skos:narrowMatch ICD10:C50.5 Unspecified -Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref ICD10:C94.2 Unspecified -Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref UMLS:C0023462 Unspecified -Orphanet:518 Acute megakaryoblastic leukemia skos:exactMatch UMLS:C0023462 Unspecified -Orphanet:518 Acute megakaryoblastic leukemia skos:broadMatch ICD10:C94.2 Unspecified -Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref OMIM:613195 Unspecified -Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome skos:exactMatch OMIM:613195 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.8 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.6 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.4 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.3 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.5 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.1 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref UMLS:C0858252 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast skos:narrowMatch ICD10:C50.5 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast skos:narrowMatch ICD10:C50.1 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast skos:narrowMatch ICD10:C50.3 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast skos:exactMatch UMLS:C0858252 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast skos:narrowMatch ICD10:C50.6 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast skos:narrowMatch ICD10:C50.8 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast skos:narrowMatch ICD10:C50.0 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast skos:narrowMatch ICD10:C50.2 Unspecified -Orphanet:213528 Rare adenocarcinoma of the breast skos:narrowMatch ICD10:C50.4 Unspecified -Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref ICD10:C91.8 Unspecified -Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref UMLS:C0006413 Unspecified -Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref MedDRA:10053518 Unspecified -Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref ICD10:C83.7 Unspecified -Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref MedDRA:10067184 Unspecified -Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref UMLS:C0079770 Unspecified -Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref MESH:D002051 Unspecified -Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref MedDRA:10006595 Unspecified -Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref MESH:D008228 Unspecified -Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref OMIM:113970 Unspecified -Orphanet:543 Burkitt lymphoma skos:exactMatch MedDRA:10006595 Unspecified -Orphanet:543 Burkitt lymphoma skos:exactMatch MESH:D002051 Unspecified -Orphanet:543 Burkitt lymphoma skos:exactMatch MESH:D008228 Unspecified -Orphanet:543 Burkitt lymphoma skos:narrowMatch ICD10:C91.8 Unspecified -Orphanet:543 Burkitt lymphoma skos:exactMatch OMIM:113970 Unspecified -Orphanet:543 Burkitt lymphoma skos:narrowMatch ICD10:C83.7 Unspecified -Orphanet:543 Burkitt lymphoma skos:exactMatch UMLS:C0079770 Unspecified -Orphanet:543 Burkitt lymphoma skos:exactMatch MedDRA:10067184 Unspecified -Orphanet:543 Burkitt lymphoma skos:exactMatch MedDRA:10053518 Unspecified -Orphanet:543 Burkitt lymphoma skos:exactMatch UMLS:C0006413 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.1 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.3 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.7 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.5 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.9 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref MESH:D008224 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref UMLS:C0024301 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.2 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.4 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.0 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.6 Unspecified -Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref OMIM:613024 Unspecified -Orphanet:545 Follicular lymphoma skos:narrowMatch ICD10:C82.5 Unspecified -Orphanet:545 Follicular lymphoma skos:narrowMatch ICD10:C82.3 Unspecified -Orphanet:545 Follicular lymphoma skos:narrowMatch ICD10:C82.1 Unspecified -Orphanet:545 Follicular lymphoma skos:narrowMatch ICD10:C82.9 Unspecified -Orphanet:545 Follicular lymphoma skos:narrowMatch ICD10:C82.7 Unspecified -Orphanet:545 Follicular lymphoma skos:exactMatch UMLS:C0024301 Unspecified -Orphanet:545 Follicular lymphoma skos:narrowMatch ICD10:C82.6 Unspecified -Orphanet:545 Follicular lymphoma skos:narrowMatch ICD10:C82.4 Unspecified -Orphanet:545 Follicular lymphoma skos:narrowMatch ICD10:C82.2 Unspecified -Orphanet:545 Follicular lymphoma skos:narrowMatch ICD10:C82.0 Unspecified -Orphanet:545 Follicular lymphoma skos:exactMatch MESH:D008224 Unspecified -Orphanet:545 Follicular lymphoma skos:narrowMatch OMIM:613024 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.9 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.5 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.3 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.1 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref MESH:D007918 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:610988 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.8 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.4 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.2 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.0 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:609888 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:246300 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref UMLS:C0023343 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:613223 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref MedDRA:10024229 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:607572 Unspecified -Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:613407 Unspecified -Orphanet:548 Leprosy skos:narrowMatch OMIM:613407 Unspecified -Orphanet:548 Leprosy skos:narrowMatch OMIM:607572 Unspecified -Orphanet:548 Leprosy skos:narrowMatch OMIM:613223 Unspecified -Orphanet:548 Leprosy skos:narrowMatch OMIM:246300 Unspecified -Orphanet:548 Leprosy skos:narrowMatch ICD10:A30.0 Unspecified -Orphanet:548 Leprosy skos:narrowMatch ICD10:A30.2 Unspecified -Orphanet:548 Leprosy skos:narrowMatch ICD10:A30.4 Unspecified -Orphanet:548 Leprosy skos:narrowMatch ICD10:A30.8 Unspecified -Orphanet:548 Leprosy skos:exactMatch MESH:D007918 Unspecified -Orphanet:548 Leprosy skos:exactMatch UMLS:C0023343 Unspecified -Orphanet:548 Leprosy skos:exactMatch OMIM:609888 Unspecified -Orphanet:548 Leprosy skos:narrowMatch OMIM:610988 Unspecified -Orphanet:548 Leprosy skos:exactMatch MedDRA:10024229 Unspecified -Orphanet:548 Leprosy skos:narrowMatch ICD10:A30.1 Unspecified -Orphanet:548 Leprosy skos:narrowMatch ICD10:A30.3 Unspecified -Orphanet:548 Leprosy skos:narrowMatch ICD10:A30.5 Unspecified -Orphanet:548 Leprosy skos:narrowMatch ICD10:A30.9 Unspecified -Orphanet:100084 Middle ear neuroendocrine tumor oboInOwl:hasDbXref ICD10:C30.1 Unspecified -Orphanet:100084 Middle ear neuroendocrine tumor skos:broadMatch ICD10:C30.1 Unspecified -Orphanet:100083 Laryngeal neuroendocrine tumor oboInOwl:hasDbXref ICD10:D14.1 Unspecified -Orphanet:100083 Laryngeal neuroendocrine tumor oboInOwl:hasDbXref ICD10:C32.1 Unspecified -Orphanet:100083 Laryngeal neuroendocrine tumor skos:broadMatch ICD10:C32.1 Unspecified -Orphanet:100083 Laryngeal neuroendocrine tumor skos:broadMatch ICD10:D14.1 Unspecified -Orphanet:100086 Gallbladder neuroendocrine tumor oboInOwl:hasDbXref ICD10:C23 Unspecified -Orphanet:100086 Gallbladder neuroendocrine tumor skos:broadMatch ICD10:C23 Unspecified -Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref OMIM:224500 Unspecified -Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref ICD10:G24.1 Unspecified -Orphanet:99657 Primary dystonia, DYT2 type skos:exactMatch OMIM:224500 Unspecified -Orphanet:99657 Primary dystonia, DYT2 type skos:broadMatch ICD10:G24.1 Unspecified -Orphanet:100085 Primary hepatic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C22.7 Unspecified -Orphanet:100085 Primary hepatic neuroendocrine carcinoma skos:broadMatch ICD10:C22.7 Unspecified -Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref OMIM:617542 Unspecified -Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref OMIM:607313 Unspecified -Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref UMLS:C1846496 Unspecified -Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref ICD10:H49.4 Unspecified -Orphanet:2744 Horizontal gaze palsy with progressive scoliosis skos:broadMatch ICD10:H49.4 Unspecified -Orphanet:2744 Horizontal gaze palsy with progressive scoliosis skos:narrowMatch OMIM:617542 Unspecified -Orphanet:2744 Horizontal gaze palsy with progressive scoliosis skos:exactMatch OMIM:607313 Unspecified -Orphanet:2744 Horizontal gaze palsy with progressive scoliosis skos:exactMatch UMLS:C1846496 Unspecified -Orphanet:100080 Neuroendocrine tumor of the colon oboInOwl:hasDbXref ICD10:C18.8 Unspecified -Orphanet:100080 Neuroendocrine tumor of the colon skos:broadMatch ICD10:C18.8 Unspecified -Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref UMLS:C1833603 Unspecified -Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref OMIM:600561 Unspecified -Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type skos:exactMatch OMIM:600561 Unspecified -Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type skos:exactMatch UMLS:C1833603 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:618998 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref ICD10:D76.1 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:608898 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:603552 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:267700 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref MedDRA:10070904 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref UMLS:C0272199 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:603553 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:613101 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:608898 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis skos:exactMatch UMLS:C0272199 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:618998 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:603552 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis skos:exactMatch OMIM:267700 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis skos:exactMatch MedDRA:10070904 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis skos:broadMatch ICD10:D76.1 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:613101 Unspecified -Orphanet:540 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:603553 Unspecified -Orphanet:100082 Neuroendocrine tumor of anal canal oboInOwl:hasDbXref ICD10:C21.1 Unspecified -Orphanet:100082 Neuroendocrine tumor of anal canal skos:broadMatch ICD10:C21.1 Unspecified -Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref UMLS:C0432347 Unspecified -Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref ICD10:Q84.1 Unspecified -Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref OMIM:191480 Unspecified -Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref OMIM:617252 Unspecified -Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref MESH:C536939 Unspecified -Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref OMIM:617251 Unspecified -Orphanet:1410 Uncombable hair syndrome skos:broadMatch ICD10:Q84.1 Unspecified -Orphanet:1410 Uncombable hair syndrome skos:narrowMatch OMIM:191480 Unspecified -Orphanet:1410 Uncombable hair syndrome skos:narrowMatch OMIM:617252 Unspecified -Orphanet:1410 Uncombable hair syndrome skos:exactMatch UMLS:C0432347 Unspecified -Orphanet:1410 Uncombable hair syndrome skos:exactMatch MESH:C536939 Unspecified -Orphanet:1410 Uncombable hair syndrome skos:narrowMatch OMIM:617251 Unspecified -Orphanet:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref ICD10:C20 Unspecified -Orphanet:100081 Neuroendocrine tumor of the rectum skos:broadMatch ICD10:C20 Unspecified -Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref ICD10:M11.1 Unspecified -Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref UMLS:C0553730 Unspecified -Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref UMLS:C0856830 Unspecified -Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref OMIM:118600 Unspecified -Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref OMIM:600668 Unspecified -Orphanet:1416 Familial calcium pyrophosphate deposition skos:narrowMatch OMIM:600668 Unspecified -Orphanet:1416 Familial calcium pyrophosphate deposition skos:exactMatch UMLS:C0856830 Unspecified -Orphanet:1416 Familial calcium pyrophosphate deposition skos:exactMatch OMIM:118600 Unspecified -Orphanet:1416 Familial calcium pyrophosphate deposition skos:exactMatch ICD10:M11.1 Unspecified -Orphanet:1416 Familial calcium pyrophosphate deposition skos:exactMatch UMLS:C0553730 Unspecified -Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type oboInOwl:hasDbXref UMLS:C1849053 Unspecified -Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type oboInOwl:hasDbXref OMIM:271620 Unspecified -Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch OMIM:271620 Unspecified -Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch UMLS:C1849053 Unspecified -Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref MESH:C535276 Unspecified -Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref UMLS:C0751881 Unspecified -Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref UMLS:C2930862 Unspecified -Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref ICD10:I67.7 Unspecified -Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref MESH:D020293 Unspecified -Orphanet:140989 Primary angiitis of the central nervous system skos:exactMatch MESH:D020293 Unspecified -Orphanet:140989 Primary angiitis of the central nervous system skos:exactMatch UMLS:C0751881 Unspecified -Orphanet:140989 Primary angiitis of the central nervous system skos:exactMatch UMLS:C2930862 Unspecified -Orphanet:140989 Primary angiitis of the central nervous system skos:exactMatch MESH:C535276 Unspecified -Orphanet:140989 Primary angiitis of the central nervous system skos:broadMatch ICD10:I67.7 Unspecified -Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q82.0 Unspecified -Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref OMIM:214900 Unspecified -Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref UMLS:C0268314 Unspecified -Orphanet:1414 Cholestasis-lymphedema syndrome skos:exactMatch OMIM:214900 Unspecified -Orphanet:1414 Cholestasis-lymphedema syndrome skos:exactMatch UMLS:C0268314 Unspecified -Orphanet:1414 Cholestasis-lymphedema syndrome skos:broadMatch ICD10:Q82.0 Unspecified -Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref MESH:C537122 Unspecified -Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref OMIM:258480 Unspecified -Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref ICD10:Q78.8 Unspecified -Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref UMLS:C0432219 Unspecified -Orphanet:2746 Opsismodysplasia skos:broadMatch ICD10:Q78.8 Unspecified -Orphanet:2746 Opsismodysplasia skos:exactMatch UMLS:C0432219 Unspecified -Orphanet:2746 Opsismodysplasia skos:exactMatch OMIM:258480 Unspecified -Orphanet:2746 Opsismodysplasia skos:exactMatch MESH:C537122 Unspecified -Orphanet:221142 Confetti-like macular atrophy oboInOwl:hasDbXref ICD10:L90.8 Unspecified -Orphanet:221142 Confetti-like macular atrophy skos:broadMatch ICD10:L90.8 Unspecified -Orphanet:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref ICD10:E16.3 Unspecified -Orphanet:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref OMIM:619290 Unspecified -Orphanet:438274 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 Unspecified -Orphanet:438274 GCGR-related hyperglucagonemia skos:broadMatch ICD10:E16.3 Unspecified -Orphanet:549 Legionnaires disease oboInOwl:hasDbXref UMLS:C0023240 Unspecified -Orphanet:549 Legionnaires disease oboInOwl:hasDbXref MedDRA:10061266 Unspecified -Orphanet:549 Legionnaires disease oboInOwl:hasDbXref MESH:D007876 Unspecified -Orphanet:549 Legionnaires disease oboInOwl:hasDbXref ICD10:A48.1 Unspecified -Orphanet:549 Legionnaires disease oboInOwl:hasDbXref UMLS:C0023241 Unspecified -Orphanet:549 Legionnaires disease oboInOwl:hasDbXref MedDRA:10035718 Unspecified -Orphanet:549 Legionnaires disease oboInOwl:hasDbXref MESH:D007877 Unspecified -Orphanet:549 Legionnaires disease skos:exactMatch MedDRA:10035718 Unspecified -Orphanet:549 Legionnaires disease skos:exactMatch UMLS:C0023241 Unspecified -Orphanet:549 Legionnaires disease skos:exactMatch MESH:D007877 Unspecified -Orphanet:549 Legionnaires disease skos:exactMatch ICD10:A48.1 Unspecified -Orphanet:549 Legionnaires disease skos:exactMatch MedDRA:10061266 Unspecified -Orphanet:549 Legionnaires disease skos:exactMatch UMLS:C0023240 Unspecified -Orphanet:549 Legionnaires disease skos:exactMatch MESH:D007876 Unspecified -Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B08.0 Unspecified -Orphanet:438279 Human infection by orthopoxvirus skos:exactMatch ICD10:B08.0 Unspecified -Orphanet:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:213524 Hereditary site-specific ovarian cancer syndrome skos:broadMatch ICD10:C56 Unspecified -Orphanet:306511 Autosomal recessive spastic paraplegia type 48 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:306511 Autosomal recessive spastic paraplegia type 48 oboInOwl:hasDbXref OMIM:613647 Unspecified -Orphanet:306511 Autosomal recessive spastic paraplegia type 48 skos:exactMatch OMIM:613647 Unspecified -Orphanet:306511 Autosomal recessive spastic paraplegia type 48 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref OMIM:615284 Unspecified -Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref ICD10:G60.0 Unspecified -Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch OMIM:615284 Unspecified -Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 skos:broadMatch ICD10:G60.0 Unspecified -Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.1 Unspecified -Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.7 Unspecified -Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.9 Unspecified -Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.0 Unspecified -Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.8 Unspecified -Orphanet:533 Listeriosis oboInOwl:hasDbXref MedDRA:10024641 Unspecified -Orphanet:533 Listeriosis oboInOwl:hasDbXref UMLS:C0023860 Unspecified -Orphanet:533 Listeriosis oboInOwl:hasDbXref MESH:D008088 Unspecified -Orphanet:533 Listeriosis skos:exactMatch MedDRA:10024641 Unspecified -Orphanet:533 Listeriosis skos:exactMatch UMLS:C0023860 Unspecified -Orphanet:533 Listeriosis skos:narrowMatch ICD10:A32.7 Unspecified -Orphanet:533 Listeriosis skos:narrowMatch ICD10:A32.9 Unspecified -Orphanet:533 Listeriosis skos:narrowMatch ICD10:A32.1 Unspecified -Orphanet:533 Listeriosis skos:exactMatch MESH:D008088 Unspecified -Orphanet:533 Listeriosis skos:narrowMatch ICD10:A32.8 Unspecified -Orphanet:533 Listeriosis skos:narrowMatch ICD10:A32.0 Unspecified -Orphanet:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref ICD10:C18.1 Unspecified -Orphanet:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref ICD10:D37.3 Unspecified -Orphanet:100079 Neuroendocrine neoplasm of appendix skos:broadMatch ICD10:D37.3 Unspecified -Orphanet:100079 Neuroendocrine neoplasm of appendix skos:broadMatch ICD10:C18.1 Unspecified -Orphanet:289504 Combined malonic and methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 Unspecified -Orphanet:289504 Combined malonic and methylmalonic acidemia oboInOwl:hasDbXref UMLS:C3280314 Unspecified -Orphanet:289504 Combined malonic and methylmalonic acidemia oboInOwl:hasDbXref OMIM:614265 Unspecified -Orphanet:289504 Combined malonic and methylmalonic acidemia skos:exactMatch OMIM:614265 Unspecified -Orphanet:289504 Combined malonic and methylmalonic acidemia skos:exactMatch UMLS:C3280314 Unspecified -Orphanet:289504 Combined malonic and methylmalonic acidemia skos:broadMatch ICD10:E71.1 Unspecified -Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 Unspecified -Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 Unspecified -Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref MESH:D008180 Unspecified -Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 Unspecified -Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.9 Unspecified -Orphanet:536 Systemic lupus erythematosus skos:narrowMatch ICD10:M32.9 Unspecified -Orphanet:536 Systemic lupus erythematosus skos:narrowMatch ICD10:M32.1 Unspecified -Orphanet:536 Systemic lupus erythematosus skos:exactMatch MESH:D008180 Unspecified -Orphanet:536 Systemic lupus erythematosus skos:narrowMatch ICD10:M32.8 Unspecified -Orphanet:536 Systemic lupus erythematosus skos:narrowMatch ICD10:M32.0 Unspecified -Orphanet:100078 Ileal neuroendocrine tumor oboInOwl:hasDbXref ICD10:C17.2 Unspecified -Orphanet:100078 Ileal neuroendocrine tumor skos:broadMatch ICD10:C17.2 Unspecified -Orphanet:100075 Neuroendocrine tumor of stomach oboInOwl:hasDbXref ICD10:C16.9 Unspecified -Orphanet:100075 Neuroendocrine tumor of stomach skos:broadMatch ICD10:C16.9 Unspecified -Orphanet:99647 Cheirospondyloenchondromatosis oboInOwl:hasDbXref ICD10:Q78.8 Unspecified -Orphanet:99647 Cheirospondyloenchondromatosis skos:broadMatch ICD10:Q78.8 Unspecified -Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:Q78.8 Unspecified -Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:614875 Unspecified -Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:broadMatch ICD10:Q78.8 Unspecified -Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:614875 Unspecified -Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies oboInOwl:hasDbXref ICD10:Q87.8 Unspecified -Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies oboInOwl:hasDbXref OMIM:613328 Unspecified -Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies oboInOwl:hasDbXref UMLS:C2750068 Unspecified -Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch UMLS:C2750068 Unspecified -Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies skos:broadMatch ICD10:Q87.8 Unspecified -Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch OMIM:613328 Unspecified -Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref OMIM:613343 Unspecified -Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch OMIM:613343 Unspecified -Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:607485 Unspecified -Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref MedDRA:10029542 Unspecified -Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref UMLS:C0751706 Unspecified -Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref ICD10:G31.0 Unspecified -Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref MESH:D057178 Unspecified -Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:600274 Unspecified -Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:172700 Unspecified -Orphanet:100070 Progressive non-fluent aphasia skos:broadMatch OMIM:607485 Unspecified -Orphanet:100070 Progressive non-fluent aphasia skos:broadMatch ICD10:G31.0 Unspecified -Orphanet:100070 Progressive non-fluent aphasia skos:exactMatch MESH:D057178 Unspecified -Orphanet:100070 Progressive non-fluent aphasia skos:exactMatch UMLS:C0751706 Unspecified -Orphanet:100070 Progressive non-fluent aphasia skos:broadMatch OMIM:172700 Unspecified -Orphanet:100070 Progressive non-fluent aphasia skos:exactMatch MedDRA:10029542 Unspecified -Orphanet:100070 Progressive non-fluent aphasia skos:broadMatch OMIM:600274 Unspecified -Orphanet:1428 Familial chondromalacia patellae oboInOwl:hasDbXref ICD10:M22.4 Unspecified -Orphanet:1428 Familial chondromalacia patellae oboInOwl:hasDbXref OMIM:168900 Unspecified -Orphanet:1428 Familial chondromalacia patellae skos:exactMatch OMIM:168900 Unspecified -Orphanet:1428 Familial chondromalacia patellae skos:broadMatch ICD10:M22.4 Unspecified -Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref UMLS:C1865794 Unspecified -Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref OMIM:602152 Unspecified -Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref MESH:C537612 Unspecified -Orphanet:140976 RHYNS syndrome skos:exactMatch MESH:C537612 Unspecified -Orphanet:140976 RHYNS syndrome skos:exactMatch UMLS:C1865794 Unspecified -Orphanet:140976 RHYNS syndrome skos:exactMatch OMIM:602152 Unspecified -Orphanet:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref OMIM:215150 Unspecified -Orphanet:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 Unspecified -Orphanet:1427 Otospondylomegaepiphyseal dysplasia skos:broadMatch ICD10:Q77.7 Unspecified -Orphanet:1427 Otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 Unspecified -Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref MESH:C537299 Unspecified -Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref ICD10:Q77.3 Unspecified -Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref UMLS:C2931048 Unspecified -Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref OMIM:215140 Unspecified -Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref UMLS:C1300226 Unspecified -Orphanet:1426 Greenberg dysplasia skos:exactMatch UMLS:C2931048 Unspecified -Orphanet:1426 Greenberg dysplasia skos:exactMatch MESH:C537299 Unspecified -Orphanet:1426 Greenberg dysplasia skos:exactMatch OMIM:215140 Unspecified -Orphanet:1426 Greenberg dysplasia skos:broadMatch ICD10:Q77.3 Unspecified -Orphanet:1426 Greenberg dysplasia skos:exactMatch UMLS:C1300226 Unspecified -Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref OMIM:118700 Unspecified -Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref OMIM:215450 Unspecified -Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref UMLS:C0393584 Unspecified -Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref ICD10:G25.5 Unspecified -Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref UMLS:C1859098 Unspecified -Orphanet:1429 Benign hereditary chorea skos:narrowMatch OMIM:215450 Unspecified -Orphanet:1429 Benign hereditary chorea skos:exactMatch UMLS:C1859098 Unspecified -Orphanet:1429 Benign hereditary chorea skos:exactMatch UMLS:C0393584 Unspecified -Orphanet:1429 Benign hereditary chorea skos:broadMatch ICD10:G25.5 Unspecified -Orphanet:1429 Benign hereditary chorea skos:exactMatch OMIM:118700 Unspecified -Orphanet:363989 Familial benign flecked retina oboInOwl:hasDbXref ICD10:H35.5 Unspecified -Orphanet:363989 Familial benign flecked retina oboInOwl:hasDbXref UMLS:C1856718 Unspecified -Orphanet:363989 Familial benign flecked retina oboInOwl:hasDbXref OMIM:228980 Unspecified -Orphanet:363989 Familial benign flecked retina skos:exactMatch OMIM:228980 Unspecified -Orphanet:363989 Familial benign flecked retina skos:exactMatch UMLS:C1856718 Unspecified -Orphanet:363989 Familial benign flecked retina skos:broadMatch ICD10:H35.5 Unspecified -Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref MESH:D018192 Unspecified -Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref UMLS:C0751674 Unspecified -Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref ICD10:D48.7 Unspecified -Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref OMIM:606690 Unspecified -Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref MedDRA:10049459 Unspecified -Orphanet:538 Lymphangioleiomyomatosis skos:exactMatch MedDRA:10049459 Unspecified -Orphanet:538 Lymphangioleiomyomatosis skos:exactMatch OMIM:606690 Unspecified -Orphanet:538 Lymphangioleiomyomatosis skos:exactMatch UMLS:C0751674 Unspecified -Orphanet:538 Lymphangioleiomyomatosis skos:exactMatch MESH:D018192 Unspecified -Orphanet:538 Lymphangioleiomyomatosis skos:broadMatch ICD10:D48.7 Unspecified -Orphanet:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref UMLS:C0392998 Unspecified -Orphanet:213512 Malignant mixed Müllerian tumor of the ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:213512 Malignant mixed Müllerian tumor of the ovary skos:exactMatch UMLS:C0392998 Unspecified -Orphanet:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref OMIM:615683 Unspecified -Orphanet:401810 Autosomal recessive spastic paraplegia type 64 skos:exactMatch OMIM:615683 Unspecified -Orphanet:401810 Autosomal recessive spastic paraplegia type 64 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.4 Unspecified -Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.2 Unspecified -Orphanet:31202 Melioidosis oboInOwl:hasDbXref MedDRA:10069748 Unspecified -Orphanet:31202 Melioidosis oboInOwl:hasDbXref UMLS:C0025229 Unspecified -Orphanet:31202 Melioidosis oboInOwl:hasDbXref MESH:D008554 Unspecified -Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.3 Unspecified -Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.1 Unspecified -Orphanet:31202 Melioidosis oboInOwl:hasDbXref OMIM:615557 Unspecified -Orphanet:31202 Melioidosis skos:narrowMatch ICD10:A24.3 Unspecified -Orphanet:31202 Melioidosis skos:narrowMatch ICD10:A24.1 Unspecified -Orphanet:31202 Melioidosis skos:exactMatch MESH:D008554 Unspecified -Orphanet:31202 Melioidosis skos:narrowMatch OMIM:615557 Unspecified -Orphanet:31202 Melioidosis skos:exactMatch MedDRA:10069748 Unspecified -Orphanet:31202 Melioidosis skos:exactMatch UMLS:C0025229 Unspecified -Orphanet:31202 Melioidosis skos:narrowMatch ICD10:A24.4 Unspecified -Orphanet:31202 Melioidosis skos:narrowMatch ICD10:A24.2 Unspecified -Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref MESH:D011906 Unspecified -Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.1 Unspecified -Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.9 Unspecified -Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref UMLS:C0034686 Unspecified -Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref MedDRA:10037904 Unspecified -Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.0 Unspecified -Orphanet:31205 Rat-bite fever skos:exactMatch UMLS:C0034686 Unspecified -Orphanet:31205 Rat-bite fever skos:narrowMatch ICD10:A25.1 Unspecified -Orphanet:31205 Rat-bite fever skos:narrowMatch ICD10:A25.9 Unspecified -Orphanet:31205 Rat-bite fever skos:exactMatch MedDRA:10037904 Unspecified -Orphanet:31205 Rat-bite fever skos:exactMatch MESH:D011906 Unspecified -Orphanet:31205 Rat-bite fever skos:narrowMatch ICD10:A25.0 Unspecified -Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.0 Unspecified -Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.8 Unspecified -Orphanet:31204 Nocardiosis oboInOwl:hasDbXref MedDRA:10029444 Unspecified -Orphanet:31204 Nocardiosis oboInOwl:hasDbXref UMLS:C0028242 Unspecified -Orphanet:31204 Nocardiosis oboInOwl:hasDbXref MESH:C536125 Unspecified -Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.1 Unspecified -Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.9 Unspecified -Orphanet:31204 Nocardiosis skos:exactMatch MESH:C536125 Unspecified -Orphanet:31204 Nocardiosis skos:narrowMatch ICD10:A43.0 Unspecified -Orphanet:31204 Nocardiosis skos:narrowMatch ICD10:A43.8 Unspecified -Orphanet:31204 Nocardiosis skos:exactMatch UMLS:C0028242 Unspecified -Orphanet:31204 Nocardiosis skos:exactMatch MedDRA:10029444 Unspecified -Orphanet:31204 Nocardiosis skos:narrowMatch ICD10:A43.1 Unspecified -Orphanet:31204 Nocardiosis skos:narrowMatch ICD10:A43.9 Unspecified -Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations oboInOwl:hasDbXref ICD10:M85.8 Unspecified -Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:broadMatch ICD10:M85.8 Unspecified -Orphanet:399081 KLHL9-related early-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:399081 KLHL9-related early-onset distal myopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref UMLS:C1864706 Unspecified -Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref OMIM:610099 Unspecified -Orphanet:399086 Finnish upper limb-onset distal myopathy skos:exactMatch OMIM:610099 Unspecified -Orphanet:399086 Finnish upper limb-onset distal myopathy skos:exactMatch UMLS:C1864706 Unspecified -Orphanet:399086 Finnish upper limb-onset distal myopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:401815 Autosomal recessive spastic paraplegia type 66 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401815 Autosomal recessive spastic paraplegia type 66 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref ICD10:D48.0 Unspecified -Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref UMLS:C0206638 Unspecified -Orphanet:363976 Giant cell tumor of bone skos:broadMatch ICD10:D48.0 Unspecified -Orphanet:363976 Giant cell tumor of bone skos:exactMatch UMLS:C0206638 Unspecified -Orphanet:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 Unspecified -Orphanet:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref MedDRA:10051938 Unspecified -Orphanet:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref UMLS:C0948216 Unspecified -Orphanet:213504 Adenocarcinoma of ovary skos:exactMatch UMLS:C0948216 Unspecified -Orphanet:213504 Adenocarcinoma of ovary skos:exactMatch MedDRA:10051938 Unspecified -Orphanet:213504 Adenocarcinoma of ovary skos:broadMatch ICD10:C56 Unspecified -Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency oboInOwl:hasDbXref OMIM:616622 Unspecified -Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch OMIM:616622 Unspecified -Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401820 Autosomal recessive spastic paraplegia type 67 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref MESH:D005862 Unspecified -Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref MedDRA:10048608 Unspecified -Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref ICD10:F81.2 Unspecified -Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref UMLS:C0017494 Unspecified -Orphanet:221117 Gerstmann syndrome skos:exactMatch UMLS:C0017494 Unspecified -Orphanet:221117 Gerstmann syndrome skos:exactMatch MESH:D005862 Unspecified -Orphanet:221117 Gerstmann syndrome skos:exactMatch MedDRA:10048608 Unspecified -Orphanet:221117 Gerstmann syndrome skos:broadMatch ICD10:F81.2 Unspecified -Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration oboInOwl:hasDbXref OMIM:614298 Unspecified -Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 Unspecified -Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration skos:exactMatch OMIM:614298 Unspecified -Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration skos:broadMatch ICD10:G23.0 Unspecified -Orphanet:363969 Autosomal recessive cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 Unspecified -Orphanet:363969 Autosomal recessive cerebral atrophy skos:broadMatch ICD10:G31.8 Unspecified -Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 Unspecified -Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy skos:broadMatch ICD10:G40.4 Unspecified -Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref ICD10:G71.0 Unspecified -Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref UMLS:C2750076 Unspecified -Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref OMIM:613319 Unspecified -Orphanet:399096 Distal anoctaminopathy skos:exactMatch UMLS:C2750076 Unspecified -Orphanet:399096 Distal anoctaminopathy skos:exactMatch OMIM:613319 Unspecified -Orphanet:399096 Distal anoctaminopathy skos:broadMatch ICD10:G71.0 Unspecified -Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency oboInOwl:hasDbXref ICD10:D84.8 Unspecified -Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency skos:broadMatch ICD10:D84.8 Unspecified -Orphanet:583861 Isolated mesenteric vein thrombosis oboInOwl:hasDbXref ICD10:K55.0 Unspecified -Orphanet:583861 Isolated mesenteric vein thrombosis skos:broadMatch ICD10:K55.0 Unspecified -Orphanet:36913 Autoimmune hypoparathyroidism oboInOwl:hasDbXref ICD10:E20.8 Unspecified -Orphanet:36913 Autoimmune hypoparathyroidism oboInOwl:hasDbXref UMLS:C0271865 Unspecified -Orphanet:36913 Autoimmune hypoparathyroidism skos:broadMatch ICD10:E20.8 Unspecified -Orphanet:36913 Autoimmune hypoparathyroidism skos:exactMatch UMLS:C0271865 Unspecified -Orphanet:583856 Isolated splenic vein thrombosis oboInOwl:hasDbXref ICD10:I82.8 Unspecified -Orphanet:583856 Isolated splenic vein thrombosis skos:broadMatch ICD10:I82.8 Unspecified -Orphanet:289539 BAP1-related tumor predisposition syndrome oboInOwl:hasDbXref ICD10:D23.9 Unspecified -Orphanet:289539 BAP1-related tumor predisposition syndrome oboInOwl:hasDbXref OMIM:614327 Unspecified -Orphanet:289539 BAP1-related tumor predisposition syndrome skos:exactMatch OMIM:614327 Unspecified -Orphanet:289539 BAP1-related tumor predisposition syndrome skos:broadMatch ICD10:D23.9 Unspecified -Orphanet:501 Lafora disease oboInOwl:hasDbXref MESH:D020192 Unspecified -Orphanet:501 Lafora disease oboInOwl:hasDbXref ICD10:G40.3 Unspecified -Orphanet:501 Lafora disease oboInOwl:hasDbXref UMLS:C0751783 Unspecified -Orphanet:501 Lafora disease oboInOwl:hasDbXref OMIM:254780 Unspecified -Orphanet:501 Lafora disease oboInOwl:hasDbXref MedDRA:10054030 Unspecified -Orphanet:501 Lafora disease skos:broadMatch ICD10:G40.3 Unspecified -Orphanet:501 Lafora disease skos:exactMatch MedDRA:10054030 Unspecified -Orphanet:501 Lafora disease skos:exactMatch OMIM:254780 Unspecified -Orphanet:501 Lafora disease skos:exactMatch UMLS:C0751783 Unspecified -Orphanet:501 Lafora disease skos:exactMatch MESH:D020192 Unspecified -Orphanet:504 Creeping myiasis oboInOwl:hasDbXref UMLS:C0546999 Unspecified -Orphanet:504 Creeping myiasis oboInOwl:hasDbXref MESH:D007815 Unspecified -Orphanet:504 Creeping myiasis oboInOwl:hasDbXref UMLS:C1562462 Unspecified -Orphanet:504 Creeping myiasis oboInOwl:hasDbXref MedDRA:10059547 Unspecified -Orphanet:504 Creeping myiasis oboInOwl:hasDbXref ICD10:B87.0 Unspecified -Orphanet:504 Creeping myiasis skos:broadMatch ICD10:B87.0 Unspecified -Orphanet:504 Creeping myiasis skos:exactMatch MESH:D007815 Unspecified -Orphanet:504 Creeping myiasis skos:exactMatch UMLS:C1562462 Unspecified -Orphanet:504 Creeping myiasis skos:exactMatch MedDRA:10059547 Unspecified -Orphanet:504 Creeping myiasis skos:exactMatch UMLS:C0546999 Unspecified -Orphanet:2700 Noma oboInOwl:hasDbXref ICD10:A69.0 Unspecified -Orphanet:2700 Noma oboInOwl:hasDbXref MESH:D009625 Unspecified -Orphanet:2700 Noma oboInOwl:hasDbXref UMLS:C0028271 Unspecified -Orphanet:2700 Noma oboInOwl:hasDbXref MedDRA:10029502 Unspecified -Orphanet:2700 Noma skos:exactMatch MedDRA:10029502 Unspecified -Orphanet:2700 Noma skos:exactMatch UMLS:C0028271 Unspecified -Orphanet:2700 Noma skos:exactMatch MESH:D009625 Unspecified -Orphanet:2700 Noma skos:exactMatch ICD10:A69.0 Unspecified -Orphanet:324381 Hereditary inclusion body myopathy type 4 oboInOwl:hasDbXref ICD10:G71.8 Unspecified -Orphanet:324381 Hereditary inclusion body myopathy type 4 skos:broadMatch ICD10:G71.8 Unspecified -Orphanet:505 Graham Little-Piccardi-Lassueur syndrome oboInOwl:hasDbXref ICD10:L66.1 Unspecified -Orphanet:505 Graham Little-Piccardi-Lassueur syndrome skos:broadMatch ICD10:L66.1 Unspecified -Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.9 Unspecified -Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.1 Unspecified -Orphanet:507 Leishmaniasis oboInOwl:hasDbXref UMLS:C0023281 Unspecified -Orphanet:507 Leishmaniasis oboInOwl:hasDbXref MedDRA:10024198 Unspecified -Orphanet:507 Leishmaniasis oboInOwl:hasDbXref MESH:D007896 Unspecified -Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.2 Unspecified -Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.0 Unspecified -Orphanet:507 Leishmaniasis oboInOwl:hasDbXref OMIM:608207 Unspecified -Orphanet:507 Leishmaniasis skos:narrowMatch ICD10:B55.9 Unspecified -Orphanet:507 Leishmaniasis skos:narrowMatch ICD10:B55.1 Unspecified -Orphanet:507 Leishmaniasis skos:exactMatch MESH:D007896 Unspecified -Orphanet:507 Leishmaniasis skos:exactMatch OMIM:608207 Unspecified -Orphanet:507 Leishmaniasis skos:narrowMatch ICD10:B55.0 Unspecified -Orphanet:507 Leishmaniasis skos:narrowMatch ICD10:B55.2 Unspecified -Orphanet:507 Leishmaniasis skos:exactMatch MedDRA:10024198 Unspecified -Orphanet:507 Leishmaniasis skos:exactMatch UMLS:C0023281 Unspecified -Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.9 Unspecified -Orphanet:509 Leptospirosis oboInOwl:hasDbXref UMLS:C0023364 Unspecified -Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.0 Unspecified -Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.8 Unspecified -Orphanet:509 Leptospirosis oboInOwl:hasDbXref MESH:D007922 Unspecified -Orphanet:509 Leptospirosis oboInOwl:hasDbXref MedDRA:10024238 Unspecified -Orphanet:509 Leptospirosis skos:exactMatch UMLS:C0023364 Unspecified -Orphanet:509 Leptospirosis skos:narrowMatch ICD10:A27.0 Unspecified -Orphanet:509 Leptospirosis skos:narrowMatch ICD10:A27.8 Unspecified -Orphanet:509 Leptospirosis skos:exactMatch MESH:D007922 Unspecified -Orphanet:509 Leptospirosis skos:narrowMatch ICD10:A27.9 Unspecified -Orphanet:509 Leptospirosis skos:exactMatch MedDRA:10024238 Unspecified -Orphanet:401800 Autosomal recessive spastic paraplegia type 60 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401800 Autosomal recessive spastic paraplegia type 60 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency oboInOwl:hasDbXref ICD10:E27.1 Unspecified -Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:broadMatch ICD10:E27.1 Unspecified -Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref OMIM:617675 Unspecified -Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref ICD10:G71.3 Unspecified -Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:broadMatch ICD10:G71.3 Unspecified -Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:exactMatch OMIM:617675 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref ICD10:N46 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618152 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:614822 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617593 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:606766 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618745 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618433 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618664 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618153 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617576 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617592 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618751 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617965 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618429 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618643 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618670 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:612997 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618664 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618433 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618152 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617593 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:614822 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618745 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:606766 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:broadMatch ICD10:N46 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617965 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618429 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618670 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618643 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618153 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:612997 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617592 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617576 Unspecified -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618751 Unspecified -Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref UMLS:C0024454 Unspecified -Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref ICD10:Q78.4 Unspecified -Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref OMIM:614569 Unspecified -Orphanet:163634 Maffucci syndrome skos:exactMatch OMIM:614569 Unspecified -Orphanet:163634 Maffucci syndrome skos:broadMatch ICD10:Q78.4 Unspecified -Orphanet:163634 Maffucci syndrome skos:exactMatch UMLS:C0024454 Unspecified -Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.5 Unspecified -Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:605850 Unspecified -Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1853892 Unspecified -Orphanet:243343 Dimethylglycine dehydrogenase deficiency skos:broadMatch ICD10:E72.5 Unspecified -Orphanet:243343 Dimethylglycine dehydrogenase deficiency skos:exactMatch OMIM:605850 Unspecified -Orphanet:243343 Dimethylglycine dehydrogenase deficiency skos:exactMatch UMLS:C1853892 Unspecified -Orphanet:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref OMIM:615686 Unspecified -Orphanet:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref ICD10:G11.4 Unspecified -Orphanet:401805 Autosomal recessive spastic paraplegia type 63 skos:broadMatch ICD10:G11.4 Unspecified -Orphanet:401805 Autosomal recessive spastic paraplegia type 63 skos:exactMatch OMIM:615686 Unspecified - diff --git a/src/ontology/metadata/doid.metadata.sssom.yml b/src/ontology/metadata/doid.metadata.sssom.yml new file mode 100644 index 000000000..753f730b0 --- /dev/null +++ b/src/ontology/metadata/doid.metadata.sssom.yml @@ -0,0 +1,33 @@ +mapping_set_id: http://purl.obolibrary.org/obo/mondo/mondo-ingest/mapping/doid.sssom.tsv +mapping_set_description: > + The file `doid.sssom.tsv` is generated from within the mondo-ingest repository (https://github.com/monarch-initiative/mondo-ingest), + by running the command `make mappings/doid.sssom.tsv` from within `src/ontology`. +license: https://creativecommons.org/licenses/by/4.0/ +creator_id: https://orcid.org/0000-0002-2906-7319 +curie_map: + ICD10: http://apps.who.int/classifications/icd10/browse/2010/en#/ + MedDRA: https://identifiers.org/meddra/ + MESH: https://meshb.nlm.nih.gov/record/ui?ui= + OMIM: https://omim.org/entry/ + Orphanet: http://www.orpha.net/ORDO/Orphanet_ + UMLS: http://linkedlifedata.com/resource/umls/id/ + DOID: http://purl.obolibrary.org/obo/DOID_ + EFO: http://www.ebi.ac.uk/efo/EFO_ + ENVO: http://purl.obolibrary.org/obo/ENVO_ + GARD: "https://bioregistry.io/reference/gard:" + ICD10CM: https://icd.codes/icd10cm/ + ICD9CM: https://icd.codes/icd9cm/ + ICD9CM_2005: https://icd.codes/icd9cm/ + ICDO: "https://bioregistry.io/reference/gard:" + KEGG: http://www.kegg.jp/entry/ + MEDDRA: https://identifiers.org/meddra/ + NCI: http://purl.obolibrary.org/obo/NCIT_ + OMIT: http://purl.obolibrary.org/obo/ENVO_ + ORDO: http://www.orpha.net/ORDO/Orphanet_ + SNOMEDCT_US_2020_03_01: http://identifiers.org/snomedct/ + SNOMEDCT_US_2020_09_01: http://identifiers.org/snomedct/ + SNOMEDCT_US_2021_07_31: http://identifiers.org/snomedct/ + SNOMEDCT_US_2021_09_01: http://identifiers.org/snomedct/ + SYMP: http://purl.obolibrary.org/obo/SYMP_ + UMLS_CUI: http://linkedlifedata.com/resource/umls/id/ + diff --git a/src/ontology/mappings/ordo_metadata.sssom.yml b/src/ontology/metadata/ordo.metadata.sssom.yml similarity index 71% rename from src/ontology/mappings/ordo_metadata.sssom.yml rename to src/ontology/metadata/ordo.metadata.sssom.yml index 9592261bd..fce747920 100644 --- a/src/ontology/mappings/ordo_metadata.sssom.yml +++ b/src/ontology/metadata/ordo.metadata.sssom.yml @@ -6,11 +6,8 @@ license: https://creativecommons.org/licenses/by/4.0/ creator_id: https://orcid.org/0000-0002-2906-7319 curie_map: ICD10: http://apps.who.int/classifications/icd10/browse/2010/en#/ - MedDRA: http://purl.bioontology.org/ontology/MEDDRA/ - MESH: https://meshb.nlm.nih.gov/record/ui?ui= - oboInOwl: http://www.geneontology.org/formats/oboInOwl# + MedDRA: https://identifiers.org/meddra/ + MESH: http://identifiers.org/mesh/ OMIM: https://omim.org/entry/ Orphanet: http://www.orpha.net/ORDO/Orphanet_ - skos: http://www.w3.org/2004/02/skos/core# - sssom: https://mapping-commons.github.io/sssom/purl/ UMLS: http://linkedlifedata.com/resource/umls/id/ diff --git a/src/ontology/mondo-ingest-odk.yaml b/src/ontology/mondo-ingest-odk.yaml index 767086a1e..b0af4e807 100644 --- a/src/ontology/mondo-ingest-odk.yaml +++ b/src/ontology/mondo-ingest-odk.yaml @@ -32,7 +32,7 @@ components: - filename: ncit.owl source: http://purl.obolibrary.org/obo/ncit.owl - filename: doid.owl - source: http://purl.obolibrary.org/obo/ncit.owl + source: http://purl.obolibrary.org/obo/doid.owl - filename: icd10cm.owl source: https://data.bioontology.org/ontologies/ICD10CM/submissions/21/download?apikey=8b5b7825-538d-40e0-9e9e-5ab9274a9aeb - filename: icd10who.owl diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 31b6d6103..46a172d57 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -66,12 +66,6 @@ $(COMPONENTSDIR)/ordo.owl: $(TMPDIR)/ordo_relevant_signature.txt config/properti rename --mappings config/property-map-2.sssom.tsv --allow-missing-entities true \ annotate --ontology-iri $(URIBASE)/mondo/sources/ordo.owl --version-iri $(URIBASE)/mondo/sources/$(TODAY)/ordo.owl -o $@; fi -$(COMPONENTSDIR)/ordo.json: $(COMPONENTSDIR)/ordo.owl - $(ROBOT) convert -i $(COMPONENTSDIR)/ordo.owl -o $(COMPONENTSDIR)/ordo.json - -$(MAPPINGSDIR)/ordo.sssom.tsv: $(COMPONENTSDIR)/ordo.json - sssom parse $(COMPONENTSDIR)/ordo.json -I obographs-json -m $(MAPPINGSDIR)/ordo_metadata.sssom.yml -o $(MAPPINGSDIR)/ordo.sssom.tsv - $(COMPONENTSDIR)/ncit.owl: $(TMPDIR)/ncit_relevant_signature.txt if [ $(COMP) = true ]; then $(ROBOT) remove -i $(TMPDIR)/component-download-ncit.owl.owl --select imports \ remove -T $(TMPDIR)/ncit_relevant_signature.txt --select complement --select "classes individuals" --trim false \ @@ -152,6 +146,12 @@ metadata/mondo.sssom.config.yml: ../mappings/%.sssom.tsv: $(TMPDIR)/component-%.json metadata/mondo.sssom.config.yml sssom parse $< -I obographs-json -m metadata/mondo.sssom.config.yml -o $@ +$(MAPPINGSDIR)/ordo.sssom.tsv: $(TMPDIR)/component-ordo.json + sssom parse $(COMPONENTSDIR)/ordo.json -I obographs-json -m metadata/ordo.metadata.sssom.yml -o $@ + +$(MAPPINGSDIR)/doid.sssom.tsv: $(TMPDIR)/component-doid.json + sssom parse $(COMPONENTSDIR)/doid.json -I obographs-json -m metadata/doid.metadata.sssom.yml -o $@ + mappings: sssom $(ALL_MAPPINGS) #################