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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:0011749 - oculocutaneous albinism type 1B |
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)