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
abbreviation
RSS [ DOID : 0110633 ]
abbreviation
RSMD1 [ https://omim.org/entry/602771 DOID : 0110633 MONDO : Lexical ]
abbreviation
MDRS1 [ DOID : 0110633 ]
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/snomedct/240063002
  • https://omim.org/entry/602771
  • http://purl.obolibrary.org/obo/NCIT_C126691
  • http://purl.obolibrary.org/obo/DOID_0110633
  • http://linkedlifedata.com/resource/umls/id/C0410180
excluded from qc check
  • http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
has broad synonym
  • classic multiminicore myopathy
  • classic MmD
  • rigid spine syndrome
  • classic multiminicore disease
has exact synonym
  • rigid spine syndrome caused by mutation in SELENON
  • muscular dystrophy, congenital, Eichsfeld type
  • myopathy, SEPN1-related
  • severe classic form multicore myopathy
  • minicore myopathy, severe classic form
  • rigid spine muscular dystrophy type 1
  • MDRS1
  • SELENON rigid spine syndrome
  • severe classic form multiminicore disease
  • Eichsfeld type congenital muscular dystrophy
  • multiminicore disease, severe classic form
  • muscular dystrophy, rigid spine, 1
  • muscular dystrophy, congenital, merosin-positive, with early spine rigidity
  • desmin-related myopathy with Mallory bodies
  • RSS
  • multicore myopathy, severe classic form
  • RSMD1
  • severe classic form minicore myopathy
  • congenital merosin-positive muscular dystrophy with early spine rigidity
  • rigid spine muscular dystrophy 1
has related synonym
  • SEPN1-related myopathy
id
  • MONDO:0011271
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/4521