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Cell Line Ontology
| Preferred Name | Duchenne muscular dystrophy | |
| Synonyms |
Pseudohypertrophic Muscular Dystrophy Duchenne musc. dyst. Dystrophies, Pseudohypertrophic Muscular Duchenne muscular dystrophy Duchenne muscular dystrophy (disorder) Duchenne-Type Progressive Muscular Dystrophy Muscular Dystrophy, Becker Childhood Pseudohypertrophic Muscular Dystrophy DMD - Duchenne muscular dystrophy |
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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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| comment |
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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| alternative term |
Pseudohypertrophic Muscular Dystrophy Duchenne musc. dyst. Dystrophies, Pseudohypertrophic Muscular Duchenne muscular dystrophy Duchenne muscular dystrophy (disorder) Duchenne-Type Progressive Muscular Dystrophy Muscular Dystrophy, Becker Childhood Pseudohypertrophic Muscular Dystrophy DMD - Duchenne muscular dystrophy
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| definition source |
GeneRIF:12754707 GeneRIF:11922612 SNOMEDCT:76670001 GeneRIF:12031623 GeneRIF:12920092 GeneRIF:15328150 GeneRIF:14652441 GeneRIF:15111323 GeneRIF:14511675 GeneRIF:14631123 GeneRIF:12609501 GeneRIF:12619170 GeneRIF:15616792 GeneRIF:12754415 GeneRIF:16295426 GeneRIF:12206800 GeneRIF:12459784 MSH:D020388 GeneRIF:11968010 GeneRIF:12798793 GeneRIF:12387876 DOID:11723
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| label |
Duchenne muscular dystrophy
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| prefixIRI |
efo:EFO_0000429
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| prefLabel |
Duchenne muscular dystrophy
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| see also |
URI: http://www.ebi.ac.uk/cellline#Duchenne_muscular_dystrophy
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| term editor |
James Malone
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