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amyotrophic lateral sclerosis

Disease Summary
Associated Targets (501)
Tbio

348

Tchem

96

Tdark

32

Tclin

25


GARD Rare
Mondo Description Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
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 A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
Mondo Term and Equivalent IDs
MONDO:0004976:  amyotrophic lateral sclerosis
COHD:373182: 
EFO:0000253: 
GARD:0005786: 
ICD10:G12.21: 
ICD9:335.20: 
MESH:D000690: 
NCIT:C34373: 
Orphanet:803: 
SCTID:86044005: 
UMLS:C0002736: