| Metadata | |
|---|---|
| ID | DOID:0110949 |
| Name | Waardenburg syndrome type 3 |
| Definition | A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. https://www.ncbi.nlm.nih.gov/pubmed/20127975, https://www.ncbi.nlm.nih.gov/pubmed/8447316 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Klein-Waardenburg syndrome [EXACT] Waardenburg syndrome type III [EXACT] Waardenburg syndrome with upper limb anomalies [EXACT] WS3 [EXACT] |
| Parent Relationships |
is_a Waardenburg syndrome |