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DOID:0050529 - adult spinal muscular atrophy
Disease Ontology Definition:A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
Synonyms: SMA4, spinal muscular atrophy 4, SPINAL MUSCULAR ATROPHY, ADULT FORM, SPINAL MUSCULAR ATROPHY, TYPE IV
Xenbase Genes : smn1
MONDO:0010056 - spinal muscular atrophy, type IV |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
childhood spinal muscular atrophy (is_a),
spinal muscular atrophy (is_a)