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DOID:0110949 - Waardenburg syndrome type 3
Disease Ontology 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.
Synonyms: Klein-Waardenburg syndrome, Waardenburg syndrome type III, Waardenburg syndrome with upper limb anomalies, WS3
Xenbase Genes
:
pax3
| MONDO:0007862 - Waardenburg syndrome type 3 |
| MIM:148820 - WAARDENBURG SYNDROME, TYPE 3; WS3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
Waardenburg syndrome (is_a)