Term Name: | achromatopsia 2 |
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Synonyms: | ACHM2, RMCH2, rod monochromacy 2, rod monochromatism 2 |
Definition: | An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. |
Ontology: | Human Disease [DOID:0110007] ( DOID:0110007 ) |