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Summary Literature (0)
DOID:12376 - juvenile spinal muscular atrophy


Disease Ontology 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.

Synonyms: Kugelberg-Welander disease, SMA3, Spinal Muscular Atrophy Type 3, Spinal muscular atrophy, familial, Type III Spinal Muscular Atrophy, spinal muscular atrophy of childhood

Xenbase Genes : smn1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009672 - spinal muscular atrophy, type III

OMIM:
OMIM:253400 - SPINAL MUSCULAR ATROPHY, TYPE III; SMA3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): childhood spinal muscular atrophy (is_a)