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Metadata
ID DOID:9258
Name Waardenburg's syndrome
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.
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

GARD:5525

MESH:D014849

NCI:C75008

NCI:C85222

OMIM:PS193500

ORDO:3440

ORDO:895

SNOMEDCT_US_2021_03_01:1010606009

SNOMEDCT_US_2021_03_01:1010638004

SNOMEDCT_US_2021_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 syndrome

is_a autosomal dominant disease

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