Mondo Disease Ontology

Last uploaded: January 7, 2025
Jump to:
Preferred Name

Duchenne muscular dystrophy
Synonyms

muscular dystrophy, Duchenne type

muscular dystrophy, pseudohypertrophic progressive, Duchenne type

severe dystrophinopathy, Duchenne type

Duchenne muscular dystrophy, X-linked recessive

muscular dystrophy, Duchenne

DMD

Duchenne muscular dystrophy
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
database_cross_reference

OMIM:310200

NANDO:1200488

icd11.foundation:1479561744

SCTID:76670001

MESH:D020388

NORD:1065

Orphanet:98896

NANDO:2200856

NCIT:C75482

MEDGEN:3925

DOID:11723

UMLS:C0013264

GARD:6291

MedDRA:10013801
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.
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

https://github.com/monarch-initiative/mondo/issues/5658
id

MONDO:0010679
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label

Duchenne muscular dystrophy
notation

MONDO:0010679
prefLabel

Duchenne muscular dystrophy
seeAlso

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

http://identifiers.org/meddra/10013801
skos_exactMatch

http://purl.obolibrary.org/obo/DOID_11723

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1479561744

http://purl.obolibrary.org/obo/Orphanet_98896

http://identifiers.org/mesh/D020388

http://linkedlifedata.com/resource/umls/id/C0013264

https://omim.org/entry/310200

http://purl.obolibrary.org/obo/NCIT_C75482

http://identifiers.org/medgen/3925

http://identifiers.org/snomedct/76670001
treeView

http://purl.obolibrary.org/obo/MONDO_0020121
excluded subClassOf

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

http://purl.obolibrary.org/obo/MONDO_0020121
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0010679 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010679 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010679 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_11723 DOID 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 DDSS 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://nanbyodata.jp/ontology/NANDO_2200856 NANDO 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
rgo:13183 GAMUTS LOOM
http://nanbyodata.jp/ontology/NANDO_1200488 NANDO 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 EFO LOOM
http://purl.bioontology.org/ontology/RCD/F3910 RCD LOOM
http://www.co-ode.org/ontologies/galen#DuchenneMuscularDystrophy GALEN LOOM