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Summary Literature (1)
DOID:0050632 - oculocutaneous albinism


Disease Ontology Definition:A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.

Synonyms:

Xenbase Genes : slc24a5, slc45a2, lrmda, tyr, oca2, tyrp1, mc1r, abcc6

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018910 - oculocutaneous albinism

OMIM:
OMIM:203100 - ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A
OMIM:203200 - ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
OMIM:203290 - ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3
OMIM:606574 - ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4
OMIM:606952 - ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B
OMIM:614473 - ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)