Link to this page
Experimental Factor Ontology
Last uploaded:
December 16, 2024
Jump to:
| Preferred Name | Duchenne and Becker muscular dystrophy | |
| Synonyms |
severe dystrophinopathy, Duchenne and Becker type |
|
| Definitions |
Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0700060 |
|
| comment |
Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also.
|
|
| database_cross_reference |
Orphanet:262 UMLS:CN227033
|
|
| definition |
Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
|
|
| has_exact_synonym |
severe dystrophinopathy, Duchenne and Becker type
|
|
| label |
Duchenne and Becker muscular dystrophy
|
|
| preferred label |
Duchenne and Becker muscular dystrophy
|
|
| prefixIRI |
efo:EFO_0700060
|
|
| prefLabel |
Duchenne and Becker muscular dystrophy
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping
| Mapping To | Ontology | Source |
|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0700060 | CCONT | SAME_URI |
| http://www.ebi.ac.uk/efo/EFO_0700060 | CCONT | LOOM |
| http://www.limics.org/hrdo/rdfns#pat_id_55 | HRDO | LOOM |
| http://www.orpha.net/ORDO/Orphanet_262 | ORDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0016899 | DOVES | LOOM |