Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

inborn disorder of purine or pyrimidine metabolism

Synonyms

disorder of purine or pyrimidine metabolism

purine-pyrimidine metabolic disorder

inborn errors of purine-pyrimidine metabolism

inborn purine-pyrimidine metabolic disorder

ID

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

closeMatch

http://identifiers.org/meddra/10037546

database_cross_reference

MESH:D011686

Orphanet:79224

UMLS:C0034139

MedDRA:10037546

DOID:653

GARD:18980

ICD9:277.2

disease disrupts

http://purl.obolibrary.org/obo/GO_0009117

exactMatch

http://identifiers.org/mesh/D011686

http://purl.obolibrary.org/obo/DOID_653

http://linkedlifedata.com/resource/umls/id/C0034139

http://purl.obolibrary.org/obo/Orphanet_79224

has_exact_synonym

inborn errors of purine-pyrimidine metabolism

inborn purine-pyrimidine metabolic disorder

has_related_synonym

disorder of purine or pyrimidine metabolism

purine-pyrimidine metabolic disorder

id

MONDO:0019254

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 purine or pyrimidine metabolism

notation

MONDO:0019254

preferred label

inborn disorder of purine or pyrimidine metabolism

prefLabel

inborn disorder of purine or pyrimidine metabolism

subClassOf

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

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