X-linked cone-rod dystrophy 1

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Echinobase

Summary

Literature (0)

DOID:0111008 - X-linked cone-rod dystrophy 1

Disease Ontology Definition:A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.

Synonyms: COD1, CORDX1, X-linked cone dystrophy 1

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

: rpgr

MIM:

MIM:304020 - cone-rod dystrophy, x-linked, 1; cordx1

MIM:304020 - cone-rod dystrophy, x-linked, 1; cordx1

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

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

Parent(s): cone-rod dystrophy (is_a)