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amyotrophic lateral sclerosis type 21

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 MATR3 gene.
Uniprot Description A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia.
Disease Ontology Description An amyotrophic lateral sclerosis that has material basis in mutation in the MATR3 gene on chromosome 5.
Mondo Term and Equivalent IDs
MONDO:0011632:  amyotrophic lateral sclerosis type 21
NCIT:C168755: