Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Duchenne muscular dystrophy
Synonyms

Severe dystrophinopathy, Duchenne type

DMD
ID

http://www.limics.org/hrdo/rdfns#pat_id_13913
ageOfDeath

Young adult
ageOfOnset

Childhood
altLabel

Severe dystrophinopathy, Duchenne type

DMD
id_MedDRA

10013801
id_Medline

neant
id_MeSH

D020388
id_MIM

310200
id_OMS

G71.0
id_Orpha

98896
id_SNOMEDCT

76670001
id_UMLS

C0013264
inheritance

X-linked recessive
patType

disease
prefixIRI

hrdo:pat_id_13913
prefLabel

Duchenne muscular dystrophy
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0010679 MONDO LOOM
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://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