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autosomal recessive optic atrophy, OPA7 type
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss.
Mondo Term and Equivalent IDs
MONDO:0013069: autosomal recessive optic atrophy, OPA7 type
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111437
MESH:C567833
OMIM:612989
Orphanet:227976
UMLS:C2751812
MONDO:0013069
High level summary of knowledge for a disease, including descriptions and datasource references.