Experimental Factor Ontology

Last uploaded: December 16, 2024
Jump to:
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
closeMatch

http://identifiers.org/meddra/10070969
database_cross_reference

Orphanet:79193

MEDGEN:541208

MedDRA:10070969

DOID:0050832

icd11.foundation:771608363

UMLS:C0268127

GARD:18967
definition

ANPM
exactMatch

http://www.orpha.net/ORDO/Orphanet_79193

http://identifiers.org/medgen/541208

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

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

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/771608363
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#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 pyrimidine metabolism
notation

MONDO:0019238
preferred label

inborn disorder of pyrimidine metabolism
prefLabel

inborn disorder of pyrimidine metabolism
subClassOf

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

http://purl.obolibrary.org/obo/MONDO_0037937
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display