| Metadata | |
|---|---|
| ID | DOID:0081025 |
| PURL | http://purl.obolibrary.org/obo/DOID_0081025 Copy |
| Name | achromatopsia 6 |
| 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. https://pubmed.ncbi.nlm.nih.gov/22901948/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
retinal cone dystrophy 3A [EXACT] |
| Parent Relationships |
is_a cone dystrophy |