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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

Xenbase Genes : tyr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008745 - oculocutaneous albinism type 1A

MIM:
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)