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Summary Literature (0)
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: SPSMA, neurogenic scapuloperoneal amyotrophy, New England type, scapuloperoneal neuronopathy,

Xenbase Genes : trpv4

Other Model Organisms: AGR, 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)