Experimental Factor Ontology

Last uploaded: July 4, 2024
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

database_cross_reference

Orphanet:79200

GARD:18972

definition

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

exactMatch

http://purl.obolibrary.org/obo/Orphanet_79200

has_exact_synonym

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

has_related_synonym

disorder of energy metabolism

id

MONDO:0019243

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

inborn disorder of energy metabolism

notation

MONDO:0019243

preferred label

inborn disorder of energy metabolism

prefLabel

inborn disorder of energy metabolism

subClassOf

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

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