coloboma

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Echinobase

Summary

Literature (0)

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pax6

MIM:

MIM:120200 - coloboma, ocular, autosomal dominant
MIM:216820 - coloboma, ocular, autosomal recessive

MIM:120200 - coloboma, ocular, autosomal dominant

MIM:216820 - coloboma, ocular, autosomal recessive

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): eye disease (is_a)