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Summary Literature (0)
DOID:0070095 - oculocutaneous albinism type IB

Disease Ontology Definition:An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.

Synonyms: Albinism, Yellow Mutant Type, OCA1B,

Xenbase Genes : tyr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011749 - oculocutaneous albinism type 1B


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)