X-linked spinal muscular atrophy 2

Summary

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: infantile-onset X-linked spinal muscular atrophy, SMAX2, spinal muscular atrophy with arthrogryposis, X-linked distal arthrogryposis multiplex congenita, X-linked spinal muscular atrophy type 2

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

: uba1

MIM:

MIM:301830 - SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2

MIM:301830 - SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): spinal muscular atrophy (is_a), X-linked recessive disease (is_a)