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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

Xenbase Genes : rpgr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010566 - manual digit 2 metacarpus pre-cartilage condensation

MIM:
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)