About   Help   FAQ
Disease Ontology Browser
X-linked spinal muscular atrophy 2 (DOID:0111827)
Alliance: disease page
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
Alt IDs: OMIM:301830, MESH:C535380, ORDO:1145, UMLS_CUI:C1844934
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory