Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities. [ Orphanet:800 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:800 (OMIM:255800)
  • OMIM:255800 (Orphanet:800)
  • SCTID:29145002 (MONDO:equivalentTo)
  • ICD10:Q78.8 (Orphanet:800)
  • ICD10:G71.1 (Orphanet:800)
  • ICD9:759.89 (i2s)
  • NCIT:C35008 (MONDO:equivalentTo)
  • UMLS:C0036391 (Orphanet:800)
  • GARD:0000250 (Orphanet-shared)
  • DOID:0090005 (MONDO:equivalentTo)
Subsets

ordo_disease, prototype_pattern

abbreviation
SJS [ Orphanet:800 ]

abbreviation
SJS1 [ https://omim.org/entry/255800 Orphanet:800 MONDO:Lexical ]

comment

Editor note: consider splitting out type 1

definition

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

exactMatch

http://identifiers.org/snomedct/29145002

http://purl.obolibrary.org/obo/NCIT_C35008

http://identifiers.org/omim/255800

http://www.orpha.net/ORDO/Orphanet_800

http://linkedlifedata.com/resource/umls/id/C0036391

http://purl.obolibrary.org/obo/DOID_0090005

has exact synonym

myotonic chondrodystrophy

Osteochondromuscular dystrophy

Schwartz-Jampel syndrome type 1

burton syndrome

dysostosis enchondralis metaepiphysaria, Catel-Hempel type

Schwartz-Jampel-Aberfeld syndrome

SJS1

myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies

Catel-Hempel type dysostosis enchondralis metaepiphysaria

Catel-Hempel syndrome

osteochondromuscular dystrophy

burton skeletal dysplasia

Aberfeld syndrome

Schwartz-Jampel syndrome

SJS

has related synonym

myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities

Sja syndrome

myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities

Schwartz-Jampel syndrome, type 1

Chondrodystrophic myotonia

Schwartz Jampel syndrome

Schwartz Jampel Aberfeld syndrome

Schwartz-Jampel syndrome 1

id

MONDO:0009717