|
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, WS3, Waardenburg syndrome type III, Waardenburg syndrome with upper limb anomalies,
Echinobase Genes :
MIM:148820 - waardenburg syndrome, type 3; ws3 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Waardenburg syndrome (is_a)