Term Name: | retinal cone dystrophy 3A |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081025] ( DOID:0081025 ) |