scapuloperoneal spinal muscular atrophy

Summary

DOID:0111552 - scapuloperoneal spinal muscular atrophy

Disease Ontology 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.

Synonyms: neurogenic scapuloperoneal amyotrophy, New England type, scapuloperoneal neuronopathy, SPSMA

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

: trpv4

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

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

Parent(s): autosomal dominant disease (is_a), motor neuron disease (is_a)