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Metadata
ID DOID:9258
Name Waardenburg's syndrome
Definition An autosomal disease 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.
http://en.wikipedia.org/wiki/Waardenburg_syndrome, http://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract
Xrefs

CSP2005:4006-0098

GARD:5525

MESH:D014849

MTHICD9_2006:270.2

NCI:C75008

NCI:C85222

OMIM:PS193500

ORDO:3440

ORDO:895

SNOMEDCT_US_2018_03_01:47434006

UMLS_CUI:C0079661

UMLS_CUI:C1847800

UMLS_CUI:C3266898

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

van der Hoeve Halbertsona Waardenburg syndrome [EXACT]

Waardenburg Shah syndrome [EXACT]

Waardenburg syndrome [EXACT]

Waardenburg, types I and/or II [NARROW]

Parent Relationships

is_a autosomal dominant disease

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