Mondo Description An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.

Uniprot Description A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.

Disease Ontology Description An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.