Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

Duchenne muscular dystrophy
Synonyms

severe dystrophinopathy, Duchenne type

Duchenne muscular dystrophy, X-linked recessive

muscular dystrophy, Duchenne

DMD

Duchenne muscular dystrophy

muscular dystrophy, Duchenne type

muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Definitions

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
ID

http://purl.obolibrary.org/obo/MONDO_0010679
has_exact_synonym

severe dystrophinopathy, Duchenne type

Duchenne muscular dystrophy, X-linked recessive

muscular dystrophy, Duchenne

DMD

Duchenne muscular dystrophy
has_related_synonym

muscular dystrophy, Duchenne type

muscular dystrophy, pseudohypertrophic progressive, Duchenne type
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521
label

Duchenne muscular dystrophy
prefixIRI

MONDO:0010679
prefLabel

Duchenne muscular dystrophy
seeAlso

https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy
textual definition

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0015368

http://purl.obolibrary.org/obo/MONDO_0010542

http://purl.obolibrary.org/obo/MONDO_0016899
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http://purl.obolibrary.org/obo/MONDO_0010679 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010679 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010679 EFO LOOM
http://purl.obolibrary.org/obo/DOID_11723 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_11723 DTO 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.ebi.ac.uk/efo/EFO_0000429 CLO 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://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