. "ORDO:84132"^^ . "classic multiminicore disease"@en . _:vb50943331 . "early-onset desmin-related myopathy"@en . _:vb50943331 . _:vb50943332 . "DOID:0110633"^^ . _:vb50943333 . "ICD10CM:G71.8"^^ . . "GARD:4723"^^ . "MESH:C535683"^^ . . "rigid spine muscular dystrophy 1"^^ . _:vb50943333 . _:vb50943331 . "severe classic form minicore myopathy"@en . _:vb50943332 . "classic MmD"@en . "congenital merosin-positive muscular dystrophy with early spine rigidity"@en . _:vb50943331 . "SEPN1-related myopathy"@en . "desmin-related myopathy with Mallory bodies"@en . "severe classic form multicore myopathy"@en . . _:vb50943333 . "OMIM:602771"^^ . . "classic multiminicore myopathy"@en . "MDRS1"@en . "desmin-related myopathy with Mallory body-like inclusions"@en . "Eichsfeld type congenital muscular dystrophy"@en . "ICD10CM:G71.2"^^ . "RSMD1"@en . _:vb50943333 . "ORDO:97244"^^ . "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36."^^ . _:vb50943332 . _:vb50943332 . _:vb50943333 . "ORDO:324604"^^ . _:vb50943332 . _:vb50943331 . "RSS"@en . "rigid spine syndrome"@en . "disease_ontology"^^ . "severe classic form multiminicore disease"@en .