Cell Line Ontology

Last uploaded: March 21, 2022
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

http://www.ebi.ac.uk/efo/EFO_0000757

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Delete Mapping To Ontology Source
http://www.ebi.ac.uk/efo/EFO_0000429 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_11723 DTO LOOM
http://purl.obolibrary.org/obo/DOID_11723 DOID LOOM
http://purl.obolibrary.org/obo/DOID_11723 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11723 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_11723 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_11723 FNS-H LOOM
http://purl.bioontology.org/ontology/RCTV2/F391000 RCTV2 LOOM
http://www.projecthalo.com/aura#Duchenne-Muscular-Dystrophy AURA LOOM
http://identifiers.org/omim/310200 REXO LOOM
http://identifiers.org/omim/310200 GEXO LOOM
http://identifiers.org/omim/310200 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_310200 CCO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11723 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013264 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/SNMI/DA-51220 SNMI LOOM
http://purl.bioontology.org/ontology/CSP/5006-0010 CRISP LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Duchenne_Muscular_Dystrophy CSEO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/76670001 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_98896 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C75482 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10013801 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75482 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13913 HRDO LOOM
http://localhost/plosthes.2017-1#8184 PLOSTHES LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 DOVES LOOM
http://www.gamuts.net/entity#Duchenne_muscular_dystrophy GAMUTS LOOM
http://purl.bioontology.org/ontology/RCD/F3910 RCD LOOM
http://www.co-ode.org/ontologies/galen#DuchenneMuscularDystrophy GALEN LOOM

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