Metadata | |
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ID | DOID:9258 |
Name | Waardenburg 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 |
SNOMEDCT_US_2023_03_01:1010606009 SNOMEDCT_US_2023_03_01:190695000 SNOMEDCT_US_2023_03_01:47434006 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
van der Hoeve Halbertsona Waardenburg syndrome [EXACT] Waardenburg Shah syndrome [EXACT] Waardenburg's syndrome [EXACT] Waardenburg, types I and/or II [NARROW] |
Parent Relationships |
is_a syndrome |