Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

3-methylglutaconic aciduria
Synonyms
Definitions

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.
ID

http://purl.obolibrary.org/obo/MONDO_0017359
label

3-methylglutaconic aciduria
prefixIRI

MONDO:0017359
prefLabel

3-methylglutaconic aciduria
textual 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.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019215
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http://purl.obolibrary.org/obo/MONDO_0017359 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017359 EFO SAME_URI
http://purl.obolibrary.org/obo/HP_0003535 HP LOOM
rgo:27498 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0017359 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0060336 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0017359 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_20775 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C579867 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0003535 UPHENO LOOM
http://purl.obolibrary.org/obo/NCIT_C98678 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00003871 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E71.111 ICD10CM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Three-Methylglutaconic_Aciduria CSEO LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#3-Methylglutaconic_aciduria RPO LOOM
http://www.orpha.net/ORDO/Orphanet_289902 ORDO LOOM
http://purl.bioontology.org/ontology/LNC/LA12468-7 LOINC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98678 NCIT LOOM
http://purl.bioontology.org/ontology/RCD/X40T6 RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/237950009 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU039712 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_0060336 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060336 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060336 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/C579867 MESH LOOM