A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene. [ https://clinicalgenome.org/affiliation/40072/ ]
Synonyms: CNGA3-related retinopathy
This is just here as a test because I lose it
Term information
Subsets
rare, inferred_rare, clingen
has narrow synonym
achromatopsia type 2
achromatopsia 2
RMCH2
achromatopsia caused by mutation in CNGA3
ACHM2
CNGA3 achromatopsia
rod monochromacy 2
rod monochromatism 2