Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0016789 http://purl.obolibrary.org/obo/MONDO_0016789
Preferred Name	pyruvate metabolism disorder
Definitions	An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.
Synonyms	inborn error of pyruvate metabolic process inborn pyruvate metabolic process disorder rare inborn error of pyruvate metabolic process
Type	http://www.w3.org/2002/07/owl#Class

definition	An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.
label	pyruvate metabolism disorder
prefLabel	pyruvate metabolism disorder
database_cross_reference	MEDGEN:1842590 Orphanet:254746 GARD:20752 UMLS:C0268192
notation	MONDO:0016789
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare
id	MONDO:0016789
skos_exactMatch	http://linkedlifedata.com/resource/umls/id/C0268192 http://identifiers.org/medgen/1842590 http://purl.obolibrary.org/obo/Orphanet_254746
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019189 http://purl.obolibrary.org/obo/MONDO_0045022 http://purl.obolibrary.org/obo/MONDO_0019243
terms_conformsTo	http://purl.obolibrary.org/obo/inborn_metabolic.yaml http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	inborn error of pyruvate metabolic process inborn pyruvate metabolic process disorder rare inborn error of pyruvate metabolic process
treeView	http://purl.obolibrary.org/obo/MONDO_0019189 http://purl.obolibrary.org/obo/MONDO_0045022 http://purl.obolibrary.org/obo/MONDO_0019243

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