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DO Term : Waardenburg syndrome [DOID:9258] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
van der Hoeve Halbertsona Waardenburg syndrome,
Waardenburg Shah syndrome,
PS193500,
SNOMEDCT_US_2023_03_01:47434006,
SNOMEDCT_US_2023_03_01:1010606009,
NCI:C85222,
Waardenburg's syndrome,
MESH:D014849,
ORDO:3440,
UMLS_CUI:C0079661,
Waardenburg, types I and/or II,
ORDO:895,
GARD:5525,
NCI:C75008,
OMIM:PS193500,
UMLS_CUI:C3266898,
UMLS_CUI:C1847800,
SNOMEDCT_US_2023_03_01:190695000

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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