loading...| Preferred Name |
Duchenne muscular dystrophy |
| Synonyms |
muscular dystrophy, Duchenne DMD muscular dystrophy, pseudohypertrophic progressive, Duchenne type Duchenne muscular dystrophy muscular dystrophy, Duchenne type; DMD severe dystrophinopathy, Duchenne type muscular dystrophy, Duchenne type |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0010679 |
| closeMatch |
http://identifiers.org/snomedct/155095006 |
| database_cross_reference |
OMIM:310200 NCIT:C75482 UMLS:C0013264 GARD:0006291 SCTID:76670001 MedDRA:10013801 ICD10:G71.0 MESH:D020388 Orphanet:98896 DOID:11723 |
| 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/snomedct/76670001 http://identifiers.org/meddra/10013801 http://purl.obolibrary.org/obo/DOID_11723 http://www.orpha.net/ORDO/Orphanet_98896 http://identifiers.org/omim/310200 http://purl.obolibrary.org/obo/NCIT_C75482 |
| has_exact_synonym |
muscular dystrophy, Duchenne DMD Duchenne muscular dystrophy severe dystrophinopathy, Duchenne type |
| has_related_synonym |
muscular dystrophy, pseudohypertrophic progressive, Duchenne type muscular dystrophy, Duchenne type; DMD muscular dystrophy, Duchenne type |
| id |
MONDO:0010679 |
| imported from | |
| in_subset | |
| label |
Duchenne muscular dystrophy |
| notation |
MONDO:0010679 |
| prefLabel |
Duchenne muscular dystrophy |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019056 http://purl.obolibrary.org/obo/MONDO_0002081 http://purl.obolibrary.org/obo/MONDO_0003847 |