| Metadata | |
|---|---|
| ID | DOID:0110950 |
| Name | Waardenburg syndrome type 2A |
| Definition | A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. https://www.ncbi.nlm.nih.gov/pubmed/20127975, https://www.ncbi.nlm.nih.gov/pubmed/7874167 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Waardenburg syndrome type IIA [EXACT] WS2A [EXACT] |
| Parent Relationships |
is_a Waardenburg syndrome is_a digenic disease |