A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles. [ NCIT:C126688 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C1834674 (Orphanet:610)
  • MESH:C535436 (Orphanet:610)
  • Orphanet:610 (OMIM:158810)
  • ICD10:G71.0 (Orphanet:610)
  • SCTID:718572004 (MONDO:equivalentTo)
  • DOID:0050663 (MONDO:equivalentTo)
  • NCIT:C126688 (MONDO:equivalentTo)
  • OMIMPS:158810 (MONDO:equivalentTo)
  • GARD:0000873 (Orphanet-shared)
Subsets

ordo_disease, prototype_pattern

abbreviation
BTHLM1 [ MONDO:Lexical https://omim.org/entry/158810 ]

comment

Editor note: consider separating type 1 form

definition

A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1834674

http://identifiers.org/mesh/C535436

http://www.orpha.net/ORDO/Orphanet_610

http://purl.obolibrary.org/obo/DOID_0050663

http://identifiers.org/snomedct/718572004

http://purl.obolibrary.org/obo/NCIT_C126688

has exact synonym

benign autosomal dominant myopathy

Bethlem myopathy type 1

benign congenital muscular dystrophy

has related synonym

Bethlem myopathy 1

BTHLM1

id

MONDO:0008029

should conform to

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