Global Code Book Ontology

Last uploaded: May 2, 2024
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Preferred Name

inborn disorder of energy metabolism
Synonyms

disorder of energy metabolism

inborn generation of precursor metabolites and energy disorder

inborn error of generation of precursor metabolites and energy

rare inborn error of generation of precursor metabolites and energy
Definitions

An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.
ID

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

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

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml
disease causes disruption of

http://purl.obolibrary.org/obo/GO_0006091
disease has basis in disruption of

http://purl.obolibrary.org/obo/GO_0006091
exactMatch

http://www.orpha.net/ORDO/Orphanet_79200

http://linkedlifedata.com/resource/umls/id/CN227604
hasDbXref

UMLS:CN227604

Orphanet:79200

GARD:18972
hasExactSynonym

inborn generation of precursor metabolites and energy disorder

inborn error of generation of precursor metabolites and energy

rare inborn error of generation of precursor metabolites and energy
hasRelatedSynonym

disorder of energy metabolism
IAO_0000115

An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.
id

MONDO:0019243
inSubset

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

http://purl.obolibrary.org/obo/mondo#orphanet_rare

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

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

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders
label

inborn disorder of energy metabolism
notation

MONDO:0019243
prefLabel

inborn disorder of energy metabolism
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019052
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