| Metadata | |
|---|---|
| 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://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract, http://en.wikipedia.org/wiki/Waardenburg_syndrome |
| 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 autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |