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Disease Ontology Browser
achromatopsia 6 (DOID:0081025)
Alliance: disease page
Synonyms: retinal cone dystrophy 3A
Alt IDs: OMIM:610024, MESH:C566483
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 (PDE6H) on chromosome 12p13.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/28/2026
MGI 6.24
The Jackson Laboratory