FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term retinal cone dystrophy 3A ID (Ontology) DOID:0081025 (Human Disease)
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.
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  retinal disease
   |__cone dystrophy
       |__retinal cone dystrophy 3A
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GARD:10648
MESH:C566483
MIM:610024