| Metadata | |
|---|---|
| ID | DOID:0110948 |
| Name | Waardenburg syndrome type 1 |
| Definition | A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. https://www.ncbi.nlm.nih.gov/pubmed/1347148, https://www.ncbi.nlm.nih.gov/pubmed/20127975 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1010606009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Waardenburg syndrome type I [EXACT] WS1 [EXACT] |
| Parent Relationships |
is_a Waardenburg syndrome |