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Summary Literature (6)
DOID:12270 - coloboma


Disease Ontology Definition:An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.

Synonyms: coloboma of eye, coloboma of macula, congenital ocular coloboma

In OMIM:
OMIM:120200 - COLOBOMA, OCULAR, AUTOSOMAL DOMINANT
OMIM:120300 - COLOBOMA OF MACULA
OMIM:216820 - COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE

In Mondo Disease Ontology:
MONDO:0001476 - coloboma

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : pax6, shh, sall2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): eye disease (is_a)