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limb-girdle muscular dystrophy

^ http://purl.obolibrary.org/obo/MONDO_0016971

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD. [ Orphanet:263 ]

Term info

database cross reference
  • UMLS:C0270950 (MONDO:equivalentTo)
  • MESH:D049288 (Orphanet:263/e)
  • UMLS:C0686353 (Orphanet:263/e)
  • Orphanet:263 (MONDO:equivalentTo)
  • DOID:11724 (MONDO:equivalentTo)
  • SCTID:78468005 (MONDO:equivalentTo)
  • NCIT:C84828 (MONDO:equivalentTo)
  • GARD:0006907 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

abbreviation
LGMD [ Orphanet:263 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5658

definition

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.

exactMatch

http://identifiers.org/mesh/D049288, http://purl.obolibrary.org/obo/NCIT_C84828, http://purl.obolibrary.org/obo/DOID_11724, http://linkedlifedata.com/resource/umls/id/C0270950, http://purl.obolibrary.org/obo/Orphanet_263, http://identifiers.org/snomedct/78468005, http://linkedlifedata.com/resource/umls/id/C0686353

has exact synonym

LGMD, erb's muscular dystrophy, limb girdle muscular dystrophy, Leyden-Mobius muscular dystrophy, Leyden-Mbius muscular dystrophy, limb-girdle muscular dystrophy

id

MONDO:0016971

seeAlso

https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy

Term relations