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