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optic atrophy 11
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.
Uniprot Description An autosomal recessive disease characterized by 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. OPA11 patients also manifest delayed psychomotor development, intellectual disability, ataxia, and leukoencephalopathy on brain imaging.
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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111436
OMIM:617302
UMLS:C4310628
UMLS:CN230145
MONDO:0015011
High level summary of knowledge for a disease, including descriptions and datasource references.