Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

pyruvate metabolism disorder

Synonyms

inborn pyruvate metabolic process disorder

rare inborn error of pyruvate metabolic process

inborn error of pyruvate metabolic process

Definitions

An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.

ID

http://purl.obolibrary.org/obo/MONDO_0016789

database_cross_reference

Orphanet:254746

GARD:20752

definition

An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_254746

has_exact_synonym

inborn pyruvate metabolic process disorder

rare inborn error of pyruvate metabolic process

inborn error of pyruvate metabolic process

id

MONDO:0016789

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

pyruvate metabolism disorder

notation

MONDO:0016789

preferred label

pyruvate metabolism disorder

prefLabel

pyruvate metabolism disorder

subClassOf

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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