Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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

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)