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encephalopathy, progressive, with amyotrophy and optic atrophy
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy.
Mondo Term and Equivalent IDs
MONDO:0014968: encephalopathy, progressive, with amyotrophy and optic atrophy
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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.
OMIM:617207
UMLS:C4310667
MONDO:0014968
High level summary of knowledge for a disease, including descriptions and datasource references.