|
DOID:0070094 - oculocutaneous albinism type IA
Disease Ontology Definition:An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.
Synonyms: OCA1A, Oculocutaneous Albinism, Tyrosinase-Negative,
Echinobase Genes :
MIM:203100 - albinism, oculocutaneous, type ia; oca1a |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
oculocutaneous albinism (is_a)