_:vb50945039 . _:vb50945039 . _:vb50945040 . . "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 TRPV4 on chromosome 12q24.11."^^ . "SPSMA"@en . "GARD:10314"^^ . _:vb50945039 . _:vb50945040 . "disease_ontology"^^ . "ICD10CM:G12.1"^^ . "OMIM:181405"^^ . "scapuloperoneal spinal muscular atrophy"^^ . . _:vb50945039 . "ORDO:431255"^^ . . "scapuloperoneal neuronopathy"@en . "UMLS_CUI:C0751335"^^ . . _:vb50945039 . _:vb50945040 . "neurogenic scapuloperoneal amyotrophy, New England type"@en . _:vb50945040 . "SNOMEDCT_US_2021_09_01:230248006"^^ . _:vb50945040 . "DOID:0111552"^^ . "MESH:D009134"^^ .