Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. [ Orphanet : 98896 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:76670001 (MONDO:equivalentTo)
  • ICD10CM:G71.0 (Orphanet:98896/ntbt)
  • NCIT:C75482 (MONDO:equivalentTo)
  • DOID:11723 (MONDO:equivalentTo)
  • OMIM:310200 (Orphanet:98896/e)
  • Orphanet:98896 (OMIM:310200)
  • MESH:D020388 (Orphanet:98896/e)
  • UMLS:C0013264 (Orphanet:98896/e)
  • GARD:0006291 (MONDO:equivalentTo)
  • MedDRA:10013801 (Orphanet:98896/e)
Subsets

gard_rare, ordo_disease

closeMatch
  • http://identifiers.org/meddra/10013801
definition
  • Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
exactMatch
  • http://identifiers.org/mesh/D020388
  • http://purl.obolibrary.org/obo/DOID_11723
  • http://purl.obolibrary.org/obo/NCIT_C75482
  • https://omim.org/entry/310200
  • http://linkedlifedata.com/resource/umls/id/C0013264
  • http://www.orpha.net/ORDO/Orphanet_98896
  • http://identifiers.org/snomedct/76670001
excluded from qc check
  • http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
has exact synonym
  • muscular dystrophy, Duchenne
  • DMD
  • Duchenne muscular dystrophy
  • Duchenne muscular dystrophy, X-linked recessive
  • severe dystrophinopathy, Duchenne type
has related synonym
  • muscular dystrophy, Duchenne type
  • muscular dystrophy, pseudohypertrophic progressive, Duchenne type
id
  • MONDO:0010679
seeAlso
  • https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy
  • https://github.com/monarch-initiative/mondo/issues/4521