loading...| Preferred Name |
Waardenburg syndrome |
| Synonyms |
Waardenburg's syndrome |
| Definitions |
A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_9258 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
GARD:5525 UMLS_CUI:C0079661 ORDO:3440 SNOMEDCT_US_2022_09_01:47434006 MESH:D014849 SNOMEDCT_US_2022_09_01:190695000 NCI:C75008 SNOMEDCT_US_2022_09_01:1010606009 ORDO:895 UMLS_CUI:C1847800 UMLS_CUI:C3266898 NCI:C85222 OMIM:PS193500 |
| definition |
A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. |
| has exact synonym |
Waardenburg's syndrome Waardenburg Shah syndrome van der Hoeve Halbertsona Waardenburg syndrome |
| has material basis in | |
| has_narrow_synonym |
Waardenburg, types I and/or II |
| has_obo_namespace |
disease_ontology |
| id |
DOID:9258 |
| in_subset | |
| label |
Waardenburg syndrome |
| notation |
DOID:9258 |
| prefLabel |
Waardenburg syndrome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85222 | National Cancer Institute Thesaurus | LOOM | |
| http://purl.bioontology.org/ontology/MESH/D014849 | Medical Subject Headings | LOOM |