National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

3-Methylglutaconic Aciduria
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98678
code

C98678
DEFINITION

A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.
label

3-Methylglutaconic Aciduria
NCI_META_CUI

CL432831
Preferred_Name

3-Methylglutaconic Aciduria
prefixIRI

C98678
prefLabel

3-Methylglutaconic Aciduria
Semantic_Type

Disease or Syndrome
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101334
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http://purl.bioontology.org/ontology/LNC/LA12468-7 Logical Observation Identifier Names and Codes LOOM
http://purl.obolibrary.org/obo/HP_0003535 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/MESH/C579867 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0060336 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E71.111 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU039712 Online Mendelian Inheritance in Man LOOM