An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage. [ NCIT:C126691 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:240063002 (MONDO:equivalentTo)
  • ICD10:G71.2 (DOID:0110633)
  • OMIM:602771 (MONDO:equivalentTo)
  • UMLS:C0410180 (OMIM:602771)
  • NCIT:C126691 (MONDO:equivalentTo)
  • ICD10:G71.8 (DOID:0110633)
  • DOID:0110633 (MONDO:equivalentTo)
abbreviation
RSS [ DOID:0110633 ]

abbreviation
MDRS1 [ DOID:0110633 ]

abbreviation
RSMD1 [ DOID:0110633 https://omim.org/entry/602771 MONDO:Lexical ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.

exactMatch

http://identifiers.org/omim/602771

http://purl.obolibrary.org/obo/NCIT_C126691

http://linkedlifedata.com/resource/umls/id/C0410180

http://identifiers.org/snomedct/240063002

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

excluded from QC check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

has exact synonym

congenital merosin-positive muscular dystrophy with early spine rigidity

rigid spine syndrome caused by mutation in SELENON

desmin-related myopathy with Mallory bodies

MDRS1

severe classic form multicore myopathy

rigid spine muscular dystrophy type 1

SELENON rigid spine syndrome

classic MmD

severe classic form minicore myopathy

Eichsfeld type congenital muscular dystrophy

SEPN1-related myopathy

RSS

RSMD1

rigid spine muscular dystrophy 1

severe classic form multiminicore disease

classic multiminicore myopathy

classic multiminicore disease

rigid spine syndrome

has related synonym

muscular dystrophy, congenital, merosin-positive, with early spine rigidity

multicore myopathy, Severe classic form

multiminicore disease, Severe classic form

muscular dystrophy, congenital, Eichsfeld type

myopathy, Sepn1-related

minicore myopathy, Severe classic form

id

MONDO:0011271