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Echinobase
Summary Literature (0)
DOID:0050632 - oculocutaneous albinism

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

Synonyms:

Echinobase Genes : lrmda, abcc6, slc45a2


OMIM:
MIM:203100 - albinism, oculocutaneous, type ia; oca1a
MIM:203200 - albinism, oculocutaneous, type ii; oca2
MIM:203290 - albinism, oculocutaneous, type iii; oca3
MIM:606574 - albinism, oculocutaneous, type iv; oca4
MIM:606952 - albinism, oculocutaneous, type ib; oca1b
MIM: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)