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amyotrophic lateral sclerosis type 12
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene.
Uniprot Description A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Disease Ontology Description An amyotrophic lateral sclerosis that has material basis in mutation in the OPTN gene on chromosome 10.
Mondo Term and Equivalent IDs
MONDO:0013264: amyotrophic lateral sclerosis type 12
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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 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:0060203
OMIM:613435
UMLS:C3150692
MONDO:0013264
High level summary of knowledge for a disease, including descriptions and datasource references.