retinal cone dystrophy 3A

Term ID

DOID:0081025

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. https://pubmed.ncbi.nlm.nih.gov/22901948/

References

• GARD:10648
• MESH:C566483
• OMIM:610024

Ontology

Human Disease   ( DOID:0081025 )