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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 and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.
Synonyms: Kugelberg-Welander disease, SMA3, Spinal muscular atrophy, familial, spinal muscular atrophy of childhood, Spinal Muscular Atrophy Type 3, Type III Spinal Muscular Atrophy
Xenbase Genes
:
smn1
| MONDO:0009672 - oronasal membrane |
| MIM:253400 - SPINAL MUSCULAR ATROPHY, TYPE III; SMA3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
childhood spinal muscular atrophy (is_a)