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| Term | juvenile spinal muscular atrophy | ID (Ontology) | DOID:12376 (Human Disease) |
| 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. | ||
| Also Known As | "Kugelberg-Welander disease" ; "SMA3" ; "Spinal Muscular Atrophy Type 3" (for all, see Synonyms field below) | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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spinal muscular atrophy |__childhood spinal muscular atrophy |__juvenile spinal muscular atrophy 14 rec. |
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| Is a | childhood spinal muscular atrophy | ||
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External Crossreferences & Linkouts
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ICD9CM:335.11 MESH:D014897 MIM:253400 NCI:C118847 SNOMEDCT_US_2023_03_01:54280009 UMLS_CUI:C0152109 |
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