Preferred Name |
Duchenne and Becker muscular dystrophy |
|
Synonyms |
Severe dystrophinopathy, Duchenne and Becker type |
|
Definitions |
A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females. |
|
ID |
http://www.orpha.net/ORDO/Orphanet_262 |
|
alternative_term |
Severe dystrophinopathy, Duchenne and Becker type |
|
definition |
A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females. |
|
definition_citation |
Orphanet |
|
expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 |
|
has_age_of_onset |
Adolescent Adult Childhood |
|
has_inheritance |
X-linked recessive |
|
hasDbXref |
UMLS:C3542021 |
|
label |
Duchenne and Becker muscular dystrophy |
|
notation |
Clinical group ORPHA:262 |
|
prefixIRI |
ORDO:Orphanet_262 |
|
prefLabel |
Duchenne and Becker muscular dystrophy |
|
present_in |
United States AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 0.23 AND has_point_prevalence_range : 1-9 / 1 000 000 |
|
subClassOf |
http://www.orpha.net/ORDO/Orphanet_206644 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://www.orpha.net/ORDO/Orphanet_262 | EFO | SAME_URI | |
http://www.ebi.ac.uk/efo/EFO_0700060 | EFO | LOOM | |
http://www.limics.org/hrdo/rdfns#pat_id_55 | HRDO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0016899 | DOVES | LOOM |