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juvenile spinal muscular atrophy (DOID:12376)
Alliance: disease page
Synonyms: Kugelberg-Welander disease; SMA3; Spinal Muscular Atrophy Type 3; Type III Spinal Muscular Atrophy
Alt IDs: OMIM:253400, DOID:13161, ICD9CM_2006:335.11, ICD9CM:335.11, MESH:D014897, NCI:C118847, UMLS_CUI:C0152109
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory