Preferred Name |
Duchenne muscular dystrophy |
|
Synonyms |
Dystrophies, Pseudohypertrophic Muscular Muscular Dystrophy, Becker Duchenne-Type Progressive Muscular Dystrophy Duchenne musc. dyst. Childhood Pseudohypertrophic Muscular Dystrophy DMD - Duchenne muscular dystrophy Duchenne muscular dystrophy Pseudohypertrophic Muscular Dystrophy Duchenne muscular dystrophy (disorder) |
|
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) |
|
ID |
http://www.ebi.ac.uk/efo/EFO_0000429 |
|
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) |
|
alternative term |
Dystrophies, Pseudohypertrophic Muscular Muscular Dystrophy, Becker Duchenne-Type Progressive Muscular Dystrophy Duchenne musc. dyst. Childhood Pseudohypertrophic Muscular Dystrophy DMD - Duchenne muscular dystrophy Duchenne muscular dystrophy Pseudohypertrophic Muscular Dystrophy Duchenne muscular dystrophy (disorder) |
|
definition source |
GeneRIF:12798793 GeneRIF:12031623 GeneRIF:14652441 GeneRIF:14631123 GeneRIF:12920092 GeneRIF:12754707 GeneRIF:12609501 MSH:D020388 GeneRIF:11922612 GeneRIF:15111323 GeneRIF:12387876 GeneRIF:15616792 GeneRIF:11968010 GeneRIF:16295426 SNOMEDCT:76670001 DOID:11723 GeneRIF:12619170 GeneRIF:12459784 GeneRIF:12206800 GeneRIF:14511675 GeneRIF:15328150 GeneRIF:12754415 |
|
label |
Duchenne muscular dystrophy |
|
prefixIRI |
efo:EFO_0000429 |
|
prefLabel |
Duchenne muscular dystrophy |
|
see also |
URI: http://www.ebi.ac.uk/cellline#Duchenne_muscular_dystrophy |
|
term editor |
James Malone |
|
subClassOf |
This ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from Bioportal's Classes tree viewer.
References (optional)
Provide evidence for the existence of the requested term such as Pubmed IDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.