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Experimental Factor Ontology
| Preferred Name | obsolete_Duchenne muscular dystrophy | |
| Synonyms |
Pseudohypertrophic Muscular Dystrophy Muscular Dystrophy, Pseudohypertrophic Dystrophy, Duchenne Muscular Duchenne musc. dyst. Dystrophy, Pseudohypertrophic Muscular Dystrophies, Pseudohypertrophic Muscular Duchenne muscular dystrophy (disorder) Duchenne-Type Progressive Muscular Dystrophy Muscular Dystrophies, Pseudohypertrophic Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Childhood Muscular Dystrophy, Pseudohypertrophic Becker Muscular Dystrophy Duchenne Type Progressive Muscular Dystrophy Pseudohypertrophic Muscular Dystrophies Muscular Dystrophy, Becker Pseudohypertrophic Childhood Muscular Dystrophy Muscular dystrophy, Duchenne Childhood Pseudohypertrophic Muscular Dystrophy Muscular Dystrophy, Pseudohypertrophic, Childhood Dystrophy, Becker Muscular Progressive Muscular Dystrophy, Duchenne Type DMD - Duchenne muscular dystrophy Pseudohypertrophic Muscular Dystrophy, Childhood Muscular Dystrophy, Childhood, Pseudohypertrophic |
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| Definitions |
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415) |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0000429 |
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| Obsolete |
true |
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| database_cross_reference |
SNOMEDCT:76670001 OMIM:310200 MeSH:D020388 DOID:11723
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|
| definition |
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
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| deprecated |
true
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| has_exact_synonym |
Pseudohypertrophic Muscular Dystrophy Muscular Dystrophy, Pseudohypertrophic Dystrophy, Duchenne Muscular Duchenne musc. dyst. Dystrophy, Pseudohypertrophic Muscular Dystrophies, Pseudohypertrophic Muscular Duchenne muscular dystrophy (disorder) Duchenne-Type Progressive Muscular Dystrophy Muscular Dystrophies, Pseudohypertrophic Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Childhood Muscular Dystrophy, Pseudohypertrophic Becker Muscular Dystrophy Duchenne Type Progressive Muscular Dystrophy Pseudohypertrophic Muscular Dystrophies Muscular Dystrophy, Becker Pseudohypertrophic Childhood Muscular Dystrophy Muscular dystrophy, Duchenne Childhood Pseudohypertrophic Muscular Dystrophy Muscular Dystrophy, Pseudohypertrophic, Childhood Dystrophy, Becker Muscular Progressive Muscular Dystrophy, Duchenne Type DMD - Duchenne muscular dystrophy Pseudohypertrophic Muscular Dystrophy, Childhood Muscular Dystrophy, Childhood, Pseudohypertrophic
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| label |
obsolete_Duchenne muscular dystrophy
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| obsoleted_in_version |
use 'http://www.orpha.net/ORDO/Orphanet_98896' instead.
New Label : Duchenne muscular dystrophy 2.32
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| organizational_class |
true
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| preferred label |
obsolete_Duchenne muscular dystrophy
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| prefixIRI |
efo:EFO_0000429
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| prefLabel |
obsolete_Duchenne muscular dystrophy
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| term editor |
Tomasz Adamusiak James Malone
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| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0000429 | CLO | SAME_URI |
| http://www.ebi.ac.uk/efo/EFO_0000429 | CCONT | SAME_URI |
| http://www.ebi.ac.uk/efo/EFO_0000429 | CCONT | LOOM |
| http://www.orpha.net/ORDO/Orphanet_98896 | CCONT | LOOM |