juvenile spinal muscular atrophy
Information
- Disease name
- juvenile spinal muscular atrophy
- Disease ID
- DOID:12376
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060160
- Cross Reference ID (Disease Ontology)
- ICD9CM:335.11
- Cross Reference ID (Disease Ontology)
- MESH:D014897
- Cross Reference ID (Disease Ontology)
- MIM:253400
- Cross Reference ID (Disease Ontology)
- NCI:C118847
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:54280009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0152109
- Exact Synonym (Disease Ontology)
- Kugelberg-Welander disease
- Exact Synonym (Disease Ontology)
- SMA3
- Exact Synonym (Disease Ontology)
- Spinal Muscular Atrophy Type 3
- Exact Synonym (Disease Ontology)
- Type III Spinal Muscular Atrophy