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achromatopsia 4

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.
Uniprot Description An 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.
Mondo Term and Equivalent IDs
MONDO:0013465:  achromatopsia 4
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found