Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
Preferred Name

inborn disorder of purine metabolism
Synonyms

disorder of purine metabolism

inborn error of purine nucleobase metabolic process

inborn purine nucleobase metabolic process disorder

rare inborn error of purine nucleobase metabolic process

Definitions

An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.

ID

http://purl.obolibrary.org/obo/MONDO_0019236

conformsTo

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

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

database_cross_reference

Orphanet:79191

MedDRA:10061476

exactMatch

http://linkedlifedata.com/resource/umls/id/C0268104

http://www.orpha.net/ORDO/Orphanet_79191

http://identifiers.org/meddra/10061476

has exact synonym

inborn error of purine nucleobase metabolic process

inborn purine nucleobase metabolic process disorder

rare inborn error of purine nucleobase metabolic process

has related synonym

disorder of purine metabolism

id

MONDO:0019236

imported from

http://purl.obolibrary.org/obo/mondo.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders

label

inborn disorder of purine metabolism

notation

MONDO:0019236

prefLabel

inborn disorder of purine metabolism

textual definition

An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019254

http://purl.obolibrary.org/obo/MONDO_0037829

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

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