| Metadata | |
|---|---|
| ID | DOID:0110947 |
| Name | Waardenburg syndrome type 2B |
| 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 variation in the chromosome region 1p21-p13.3. https://www.ncbi.nlm.nih.gov/pubmed/20127975, https://www.ncbi.nlm.nih.gov/pubmed/7951321 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Waardenburg syndrome type IIB [EXACT] WS2B [EXACT] |
| Parent Relationships |
is_a Waardenburg syndrome |