loading...| Preferred Name | Duchenne muscular dystrophy | |
| Synonyms |
muscular dystrophy, pseudohypertrophic progressive, Duchenne type muscular dystrophy, Duchenne type Duchenne muscular dystrophy severe dystrophinopathy, Duchenne type Duchenne muscular dystrophy, X-linked recessive muscular dystrophy, Duchenne DMD |
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| 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 |
|
| database_cross_reference |
icd11.foundation:1479561744 NCIT:C75482 MedDRA:10013801 OMIM:310200 MESH:D020388 SCTID:76670001 NANDO:2200856 Orphanet:98896 NANDO:1200488 UMLS:C0013264 MEDGEN:3925 DOID:11723 GARD:6291 NORD:1065 |
|
| 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. |
|
| gwas_trait |
true |
|
| has_exact_synonym |
Duchenne muscular dystrophy severe dystrophinopathy, Duchenne type Duchenne muscular dystrophy, X-linked recessive muscular dystrophy, Duchenne DMD |
|
| has_related_synonym |
muscular dystrophy, pseudohypertrophic progressive, Duchenne type muscular dystrophy, Duchenne type |
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| IAO_0000233 | ||
| id |
MONDO:0010679 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Duchenne muscular dystrophy |
|
| notation |
MONDO:0010679 |
|
| preferred label |
Duchenne muscular dystrophy |
|
| prefLabel |
Duchenne muscular dystrophy |
|
| see also |
https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_11723 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1479561744 http://purl.obolibrary.org/obo/Orphanet_98896 http://identifiers.org/mesh/D020388 http://linkedlifedata.com/resource/umls/id/C0013264 http://purl.obolibrary.org/obo/NCIT_C75482 |
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| subClassOf | ||
| excluded_subClassOf |