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Metadata
ID DOID:0060196
Name amyotrophic lateral sclerosis type 4
Definition An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9.
http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, http://omim.org/entry/602433
Xrefs

GARD:10502

ICD10CM:G12.2

OMIM:602433

ORDO:357043

Subsets

DO_rare_slim

Synonyms

ALS 4 [EXACT]

amyotrophic lateral sclerosis 4 [EXACT]

amyotrophic lateral sclerosis 4, juvenile [EXACT]

dHMN with upper motor neuron signs [EXACT]

distal hereditary motor neuropathy with pyramidal features [EXACT]

distal hereditary motor neuropathy with upper motor neuron signs [EXACT]

Parent Relationships

is_a amyotrophic lateral sclerosis

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