rigid spine muscular dystrophy 1

classic multiminicore myopathy

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.

http://purl.obolibrary.org/obo/DOID_0110633

GARD:4723

ICD10CM:G71.8

OMIM:602771

ORDO:324604

ORDO:97244

ICD10CM:G71.2

MESH:C535683

ORDO:84132

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.

http://purl.obolibrary.org/obo/UBERON_0001130

classic multiminicore myopathy

early-onset desmin-related myopathy

classic MmD

classic multiminicore disease

Eichsfeld type congenital muscular dystrophy

rigid spine syndrome

severe classic form multicore myopathy

desmin-related myopathy with Mallory bodies

RSS

SEPN1-related myopathy

desmin-related myopathy with Mallory body-like inclusions

RSMD1

severe classic form multiminicore disease

MDRS1

congenital merosin-positive muscular dystrophy with early spine rigidity

severe classic form minicore myopathy

http://purl.obolibrary.org/obo/GENO_0000148

http://purl.obolibrary.org/obo/SYMP_0000094

disease_ontology

DOID:0110633

http://purl.obolibrary.org/obo/doid#DO_rare_slim

rigid spine muscular dystrophy 1

DOID:0110633

rigid spine muscular dystrophy 1

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_0050557

http://purl.obolibrary.org/obo/DOID_0060564