Visualize Submit Comment
Metadata
ID DOID:12376
Name juvenile spinal muscular atrophy
Definition A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.
https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
Xrefs

ICD9CM:335.11

MESH:D014897

NCI:C118847

OMIM:253400

SNOMEDCT_US_2023_03_01:54280009

UMLS_CUI:C0152109

Alternateids

DOID:13161

Subsets

NCIthesaurus

Synonyms

Kugelberg-Welander disease [EXACT]

SMA3 [EXACT]

Spinal Muscular Atrophy Type 3 [EXACT]

Type III Spinal Muscular Atrophy [EXACT]

Parent Relationships

is_a childhood spinal muscular atrophy

Add an item to the term tracker