Mondo Disease Ontology

Last uploaded: January 7, 2025
Preferred Name

tricarboxylic acid cycle disorder
Synonyms

TCA cycle disorder

Krebs cycle disorder

inborn tricarboxylic acid cycle disorder

rare inborn error of tricarboxylic acid cycle

citric acid cycle disorder

inborn error of tricarboxylic acid cycle

Definitions

An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.

ID

http://purl.obolibrary.org/obo/MONDO_0016790

database_cross_reference

Orphanet:254749

GARD:20753

MEDGEN:1843282

UMLS:C5679646

definition

An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.

has_exact_synonym

TCA cycle disorder

Krebs cycle disorder

inborn tricarboxylic acid cycle disorder

rare inborn error of tricarboxylic acid cycle

citric acid cycle disorder

inborn error of tricarboxylic acid cycle

id

MONDO:0016790

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

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

label

tricarboxylic acid cycle disorder

notation

MONDO:0016790

prefLabel

tricarboxylic acid cycle disorder

skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C5679646

http://purl.obolibrary.org/obo/Orphanet_254749

http://identifiers.org/medgen/1843282

terms_conformsTo

http://purl.obolibrary.org/obo/inborn_metabolic.yaml

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml

treeView

http://purl.obolibrary.org/obo/MONDO_0019243

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019243

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