Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

inborn disorder of pyrimidine metabolism
Synonyms

disorder of pyrimidine metabolism

pyrimidine metabolic disorder

rare inborn error of pyrimidine nucleobase metabolic process

inborn pyrimidine nucleobase metabolic process disorder

inborn error of pyrimidine nucleobase metabolic process

Definitions

ANPM

ID

http://purl.obolibrary.org/obo/MONDO_0019238

database_cross_reference

Orphanet:79193

MEDGEN:541208

MedDRA:10070969

DOID:0050832

icd11.foundation:771608363

UMLS:C0268127

GARD:18967

definition

ANPM

has_exact_synonym

pyrimidine metabolic disorder

rare inborn error of pyrimidine nucleobase metabolic process

inborn pyrimidine nucleobase metabolic process disorder

inborn error of pyrimidine nucleobase metabolic process

has_related_synonym

disorder of pyrimidine metabolism

id

MONDO:0019238

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 pyrimidine metabolism

notation

MONDO:0019238

preferred label

inborn disorder of pyrimidine metabolism

prefLabel

inborn disorder of pyrimidine metabolism

skos_closeMatch

http://identifiers.org/meddra/10070969

skos_exactMatch

http://identifiers.org/medgen/541208

http://purl.obolibrary.org/obo/Orphanet_79193

http://purl.obolibrary.org/obo/DOID_0050832

http://linkedlifedata.com/resource/umls/id/C0268127

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/771608363

subClassOf

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

http://purl.obolibrary.org/obo/MONDO_0037937

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