Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014
Preferred Name

Duchenne Muscular Dystrophy

Synonyms
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Duchenne_Muscular_Dystrophy

DEFINITION

An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

isDefinedBy

An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

label

Duchenne Muscular Dystrophy

prefixIRI

Thesaurus:Duchenne_Muscular_Dystrophy

prefLabel

Duchenne Muscular Dystrophy

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Muscular_Dystrophy

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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://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 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