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Echinobase
Summary Literature (0)
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 :


OMIM:
MIM:203100 - albinism, oculocutaneous, type ia; oca1a

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): oculocutaneous albinism (is_a)