Experimental Factor Ontology

Last uploaded: December 16, 2024
Preferred Name

vitamin metabolic disorder
Synonyms

vitamin metabolic disorder

inborn vitamin metabolic process disorder

inborn vitamin metabolic disorder

rare inborn error of vitamin metabolic process

inborn error of vitamin metabolic process

Definitions

An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process. An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.

ID

http://www.ebi.ac.uk/efo/EFO_0005596

database_cross_reference

DOID:0050718

MONDO:0005528

definition

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

An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.

exactMatch

http://www.ebi.ac.uk/efo/EFO_0005596

http://purl.obolibrary.org/obo/DOID_0050718

has_exact_synonym

inborn vitamin metabolic process disorder

inborn vitamin metabolic disorder

rare inborn error of vitamin metabolic process

inborn error of vitamin metabolic process

has_related_synonym

vitamin metabolic disorder

id

EFO:0005596

in_subset

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

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

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

label

vitamin metabolic disorder

notation

EFO:0005596

preferred label

vitamin metabolic disorder

prefLabel

vitamin metabolic disorder

subClassOf

http://purl.obolibrary.org/obo/MONDO_0024298

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

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