National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Leigh Disease
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84814
code	C84814
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	NICHD
DEFINITION	An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures.
FULL_SYN	Leigh Syndrome Leigh's Disease
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2934
label	Leigh Disease
NICHD_Hierarchy_Term	Leigh Disease
Preferred_Name	Leigh Disease
prefixIRI	C84814
prefLabel	Leigh Disease
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0023264
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D007888	Medical Subject Headings	LOOM
	http://purl.obolibrary.org/obo/DOID_3652	Human Disease Ontology 123	LOOM