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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
juvenile spinal muscular atrophy
Summary
- Synonym
-
- Kugelberg-Welander disease
- SMA3
- Spinal Muscular Atrophy Type 3
- Type III 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.
- Super Class
- childhood spinal muscular atrophy
External Links
- Disease Ontology
- DOID:12376
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06865 | Beta-hexosaminidase subunit alpha | |
| P07741 | Adenine phosphoribosyltransferase | |
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein |
