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Emery-Dreifuss muscular dystrophy

^ http://purl.obolibrary.org/obo/MONDO_0016830

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy. [ Orphanet:261 ]

Term info

database cross reference
  • MESH:D020389 (Orphanet:261/e)
  • Orphanet:261 (MONDO:equivalentTo)
  • UMLS:C0410189 (Orphanet:261/e)
  • OMIMPS:310300 (MONDO:equivalentTo)
  • NCIT:C84685 (MONDO:equivalentTo)
  • DOID:11726 (MONDO:equivalentTo)
  • SCTID:111508004 (MONDO:equivalentTo)
  • GARD:0006329 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
EDMD [ Orphanet:261 DOID:11726 ]

IAO 0000233

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

definition

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.

exactMatch

https://omim.org/phenotypicSeries/PS310300, http://purl.obolibrary.org/obo/DOID_11726, http://identifiers.org/mesh/D020389, http://identifiers.org/snomedct/111508004, http://purl.obolibrary.org/obo/Orphanet_261, http://linkedlifedata.com/resource/umls/id/C0410189, http://purl.obolibrary.org/obo/NCIT_C84685

has exact synonym

EDMD, Emery-Dreifuss muscular dystrophy

has related synonym

scapuloperoneal syndrome, X-linked (formerly), Humeroperoneal neuromuscular disease, (formerly)

id

MONDO:0016830