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amyotrophic lateral sclerosis

^ http://www.ebi.ac.uk/efo/EFO_0000253


A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).

A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)

An autosomal dominant inherited form of amyloidosis.

Synonyms: Bulbar motor neuron disease, Lateral Scleroses, Amyotrophic, Amyotrophic Lateral Sclerosis, Guam Form, Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam, Amyotrophic lateral sclerosis (disorder), ALS (Amyotrophic Lateral Sclerosis), LOU GEHRIG DIS, ALS, Gehrig's Disease, Dementia With Amyotrophic Lateral Sclerosis, Lou-Gehrigs Disease, Gehrigs Disease, AMYOTROPHIC SCLEROSIS, GEHRIGS DIS, ALS - Amyotrophic lateral sclerosis, Sclerosis, Amyotrophic Lateral, Guam Form of Amyotrophic Lateral Sclerosis, Disease, Lou-Gehrigs, Motor Neuron Disease, Amyotrophic Lateral Sclerosis, Lou Gehrigs Disease, Lou Gehrig's Disease, MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS, Charcot disease, Amyotrophic Lateral Sclerosis With Dementia, Lou Gehrig Disease, Motor neuron disease, bulbar, Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1, LOU GEHRIGS DIS, Gehrig Disease

Term info

NIFSTD definition citation

NIFSTD:birnlex_12566

OMIM definition citation

OMIM:616208, OMIM:617921, OMIM:617839, OMIM:105400, OMIM:105500, OMIM:617892

ORDO definition citation

ORDO:Orphanet_803

SNOMEDCT definition citation

SNOMEDCT:86044005

bioportal provenance

MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS[accessedResource: MSH:D000690][accessDate: 05-04-2011], Amyotrophic Lateral Sclerosis With Dementia[accessedResource: MSH:D000690][accessDate: 05-04-2011], Lou Gehrig's disease[accessedResource: DOID:332][accessDate: 05-04-2011], Guam Form of Amyotrophic Lateral Sclerosis[accessedResource: MSH:D000690][accessDate: 05-04-2011], GEHRIGS DIS[accessedResource: MSH:D000690][accessDate: 05-04-2011], ALS - Amyotrophic lateral sclerosis[accessedResource: SNOMEDCT:86044005][accessDate: 05-04-2011], Lateral Scleroses, Amyotrophic[accessedResource: MSH:D000690][accessDate: 05-04-2011], A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011], motor neuron disease, bulbar[accessedResource: DOID:332][accessDate: 05-04-2011], Motor Neuron Disease, Amyotrophic Lateral Sclerosis[accessedResource: MSH:D000690][accessDate: 05-04-2011], ALS[accessedResource: NCIt:C34373][accessDate: 05-04-2011], Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1[accessedResource: MSH:D000690][accessDate: 05-04-2011], Gehrig Disease[accessedResource: MSH:D000690][accessDate: 05-04-2011], Amyotrophic lateral sclerosis (disorder)[accessedResource: DOID:332][accessDate: 05-04-2011], LOU GEHRIGS DIS[accessedResource: MSH:D000690][accessDate: 05-04-2011], Lou Gehrig Disease[accessedResource: NCIt:C34373][accessDate: 05-04-2011], Dementia With Amyotrophic Lateral Sclerosis[accessedResource: MSH:D000690][accessDate: 05-04-2011], Lou-Gehrigs Disease[accessedResource: MSH:D000690][accessDate: 05-04-2011], Lou Gehrigs Disease[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011], Gehrigs Disease[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011], Disease, Lou-Gehrigs[accessedResource: MSH:D000690][accessDate: 05-04-2011], AMYOTROPHIC SCLEROSIS[accessedResource: ICD9:335.20][accessDate: 05-04-2011], Amyotrophic Lateral Sclerosis, Guam Form[accessedResource: MSH:D000690][accessDate: 05-04-2011], Sclerosis, Amyotrophic Lateral[accessedResource: MSH:D000690][accessDate: 05-04-2011], Bulbar motor neuron disease[accessedResource: SNOMEDCT:86044005][accessDate: 05-04-2011], A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)[accessedResource: MSH:D000690][accessDate: 05-04-2011], Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam[accessedResource: MSH:D000690][accessDate: 05-04-2011], Gehrig's Disease[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011], An autosomal dominant inherited form of amyloidosis.[accessedResource: NCIt:C34373][accessDate: 05-04-2011], ALS (Amyotrophic Lateral Sclerosis)[accessedResource: MSH:D000690][accessDate: 05-04-2011], LOU GEHRIG DIS[accessedResource: MSH:D000690][accessDate: 05-04-2011]

gwas trait

true

term editor

Gautier Koscielny, James Malone, Tomasz Adamusiak