Mondo Description Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.
Uniprot Description An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia.
Mondo Term and Equivalent IDs
MONDO:0009875: achromatopsia 3