| 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 |
SNOMEDCT_US_2023_03_01:54280009 |
| 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 |