has material basis in germline mutation in CNGA3 achromatopsia 2 https://github.com/monarch-initiative/mondo/issues/4937 https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2 https://www.malacards.org/card/achromatopsia_2 ACHM2 MEDGEN:387867 achromatopsia 2 MESH:C536128 Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms. NCIT:C168757 UMLS:C1857618 GARD:0009649 OMIM:216900 DOID:0110007 achromatopsia type 2 CNGA3 achromatopsia rod monochromatism 2 RMCH2 achromatopsia caused by mutation in CNGA3 rod monochromacy 2 MONDO:0009003 achromatopsia CNGA3-related retinopathy