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Summary Literature (0)
DOID:0081025 - retinal cone dystrophy 3A

Disease Ontology Definition:A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13.

Synonyms:

Xenbase Genes : pde6h


MIM:
MIM:610024 - RETINAL CONE DYSTROPHY 3A; RCD3A

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): cone dystrophy (is_a)