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DOID:0111827 - X-linked spinal muscular atrophy 2
Disease Ontology Definition:A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3.
Synonyms: SMAX2, X-linked distal arthrogryposis multiplex congenita, X-linked spinal muscular atrophy type 2, infantile-onset X-linked spinal muscular atrophy, spinal muscular atrophy with arthrogryposis,
Xenbase Genes
:
uba1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
spinal muscular atrophy (is_a)