National Drug File - Reference Terminology - Muscular Dystrophy, Duchenne [Disease/Finding] - Classes | NCBO BioPortal

National Drug File - Reference Terminology

Last uploaded: July 6, 2018

Id	http://purl.bioontology.org/ontology/NDFRT/N0000004131 http://purl.bioontology.org/ontology/NDFRT/N0000004131
Preferred Name	Muscular Dystrophy, Duchenne [Disease/Finding]
Synonyms	Childhood Pseudohypertrophic Muscular Dystrophy Cardiomyopathy, Dilated, 3B Muscular Dystrophy, Duchenne Duchenne-Type Progressive Muscular Dystrophy Childhood Muscular Dystrophy, Pseudohypertrophic Pseudohypertrophic Muscular Dystrophy, Childhood Muscular Dystrophy, Pseudohypertrophic Pseudohypertrophic Childhood Muscular Dystrophy Muscular Dystrophy, Childhood, Pseudohypertrophic Progressive Muscular Dystrophy, Duchenne Type Cardiomyopathy, Dilated, X-Linked Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Duchenne Muscular Dystrophy Muscular Dystrophy, Duchenne Type Muscular Dystrophy, Pseudohypertrophic, Childhood See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Childhood Pseudohypertrophic Muscular Dystrophy Cardiomyopathy, Dilated, 3B Muscular Dystrophy, Duchenne Duchenne-Type Progressive Muscular Dystrophy Childhood Muscular Dystrophy, Pseudohypertrophic Pseudohypertrophic Muscular Dystrophy, Childhood Muscular Dystrophy, Pseudohypertrophic Pseudohypertrophic Childhood Muscular Dystrophy Muscular Dystrophy, Childhood, Pseudohypertrophic Progressive Muscular Dystrophy, Duchenne Type Cardiomyopathy, Dilated, X-Linked Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Duchenne Muscular Dystrophy Muscular Dystrophy, Duchenne Type Muscular Dystrophy, Pseudohypertrophic, Childhood See more See less
prefLabel	Muscular Dystrophy, Duchenne [Disease/Finding]
notation	N0000004131
May be treated by	http://purl.bioontology.org/ontology/NDFRT/N0000193304 http://purl.bioontology.org/ontology/NDFRT/N0000193330 http://purl.bioontology.org/ontology/NDFRT/N0000192802 http://purl.bioontology.org/ontology/NDFRT/N0000193332 http://purl.bioontology.org/ontology/NDFRT/N0000193333 http://purl.bioontology.org/ontology/NDFRT/N0000193334 http://purl.bioontology.org/ontology/NDFRT/N0000192864 http://purl.bioontology.org/ontology/NDFRT/N0000193331 See more See less
MESH 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)
MESH UI	M0014253
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000011108
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
MeSH name	Muscular Dystrophy, Duchenne
NDFRT kind	DISEASE_KIND
type	http://www.w3.org/2002/07/owl#Class
SNOMED CID	76670001
tui	T047
NUI	N0000004131
cui	C0013264
MESH DUI	D020388

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