Experimental Factor Ontology

Last uploaded: September 16, 2024
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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 inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.
ID

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

http://identifiers.org/meddra/10061476
database_cross_reference

Orphanet:79191

icd11.foundation:1958565793

MedDRA:10061476

GARD:18965
definition

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

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

http://purl.obolibrary.org/obo/mondo#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 purine metabolism
notation

MONDO:0019236
preferred label

inborn disorder of purine metabolism
prefLabel

inborn disorder of purine metabolism
subClassOf

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

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