| Metadata | |
|---|---|
| ID | DOID:0110007 |
| Name | achromatopsia 2 |
| Definition | An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. https://www.ncbi.nlm.nih.gov/pubmed/11536077, https://www.ncbi.nlm.nih.gov/pubmed/9662398 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ACHM2 [EXACT] RMCH2 [EXACT] rod monochromacy 2 [EXACT] rod monochromatism 2 [EXACT] |
| Parent Relationships |
is_a achromatopsia |