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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Duchenne muscular dystrophy | |
| Synonyms |
Severe dystrophinopathy, Duchenne type DMD |
|
| Definitions |
A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_98896 |
|
| alternative_term |
Severe dystrophinopathy, Duchenne type DMD
|
|
| definition |
A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
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|
| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98896 |
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| has_age_of_onset |
Childhood
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|
| has_inheritance |
X-linked recessive
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|
| hasDbXref |
ICD-10:G71.0 MedDRA:10013801 ICD-11:8C70.1 OMIM:310200 MeSH:D020388 UMLS:C0013264
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|
| label |
Duchenne muscular dystrophy
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|
| notation |
ORPHA:98896
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| part_of |
http://www.orpha.net/ORDO/Orphanet_522522 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_262 |
|
| prefixIRI |
ORDO:Orphanet_98896
|
|
| prefLabel |
Duchenne muscular dystrophy
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|
| present_in |
Canada AND has_birth_prevalence_average_value : 10.5 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 3.56 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 4.26 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 12.0 AND has_birth_prevalence_range : 1-5 / 10 000 South Africa AND has_point_prevalence_average_value : 0.47 AND has_point_prevalence_range : 1-9 / 1 000 000 Ireland AND has_birth_prevalence_average_value : 8.2 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 14.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 9.9 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 4.14 AND has_point_prevalence_range : 1-9 / 100 000 Puerto rico AND has_point_prevalence_average_value : 2.59 AND has_point_prevalence_range : 1-9 / 100 000 Egypt AND has_lifetime_prevalence_average_value : 7.66 AND has_lifetime_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 2.75 AND has_point_prevalence_range : 1-9 / 100 000
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| treeView |
http://www.orpha.net/ORDO/Orphanet_522522 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_262 |
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| subClassOf |
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