Term Name: | achromatopsia 3 |
---|---|
Synonyms: | ACHM1, ACHM3, Pingelapese blindness, RMCH1, rod monochromacy 1, rod monochromatism 1 |
Definition: | An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. |
Ontology: | Human Disease [DOID:0110008] ( DOID:0110008 ) |