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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)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory