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achromatopsia 7
Disease Summary
Associated Targets (1)
Tbio
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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110009
OMIM:616517
UMLS:C4225297
MONDO:0014677
High level summary of knowledge for a disease, including descriptions and datasource references.