Metadata | |
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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 |