About   Help   FAQ
Disease Ontology Browser
scapuloperoneal spinal muscular atrophy (DOID:0111552)
Alliance: disease page
Synonyms: neurogenic scapuloperoneal amyotrophy, New England type; scapuloperoneal neuronopathy; SPSMA
Alt IDs: OMIM:181405, ICD10CM:G12.1, MESH:D009134, ORDO:431255, UMLS_CUI:C0751335
Definition: A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.

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