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achromatopsia 7

Disease Summary
Associated Targets (1)


Mondo Description Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.
Uniprot Description A form of achromatopsia, 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.
Disease Ontology Description An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.
Mondo Term and Equivalent IDs
MONDO:0014677:  achromatopsia 7