| Metadata | |
|---|---|
| ID | DOID:0110008 |
| Name | achromatopsia 3 |
| Definition | An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. https://www.ncbi.nlm.nih.gov/pubmed/10888875, https://www.ncbi.nlm.nih.gov/pubmed/17265047 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ACHM1 [EXACT] ACHM3 [EXACT] Pingelapese blindness [EXACT] RMCH1 [EXACT] rod monochromacy 1 [EXACT] rod monochromatism 1 [EXACT] |
| Parent Relationships |
is_a achromatopsia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |