juvenile spinal muscular atrophy

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: smn1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009672 - spinal muscular atrophy, type III

MONDO:0009672 - spinal muscular atrophy, type III

OMIM:

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

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)