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Metadata
ID DOID:0050529
Name adult spinal muscular atrophy
Definition A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
Xrefs

ICD10CM:G12.1

MESH:C563948

OMIM:271150

ORDO:83420

UMLS_CUI:C1838230

Subsets

DO_rare_slim

Synonyms

SMA4 [EXACT]

spinal muscular atrophy 4 [EXACT]

SPINAL MUSCULAR ATROPHY, ADULT FORM [EXACT]

SPINAL MUSCULAR ATROPHY, TYPE IV [EXACT]

Parent Relationships

is_a spinal muscular atrophy

is_a autosomal recessive disease

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