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Summary Literature (0)
DOID:0070097 - oculocutaneous albinism type III

Disease Ontology Definition:An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23.

Synonyms: OCA3, Rufous Oculocutaneous Albinism

Xenbase Genes : tyrp1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008747 - oculocutaneous albinism type 3

MIM:
MIM:203290 - ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3

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)