National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Duchenne Muscular Dystrophy

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75482

code

C75482

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.

label

Duchenne Muscular Dystrophy

Legacy_Concept_Name

Duchenne_Muscular_Dystrophy

Preferred_Name

Duchenne Muscular Dystrophy

prefixIRI

C75482

prefLabel

Duchenne Muscular Dystrophy

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0013264

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84910

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http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013264 MedlinePlus Health Topics LOOM
http://purl.obolibrary.org/obo/DOID_11723 Human Disease Ontology 123 LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 Urine Ontology LOOM