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Echinobase
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

Echinobase Genes :


MIM:
MIM:606952 - albinism, oculocutaneous, type ib; oca1b

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

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