Mondo Disease Ontology - inborn disorder of pyrimidine metabolism - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: May 9, 2024

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Preferred Name	inborn disorder of pyrimidine metabolism
Synonyms	inborn pyrimidine nucleobase metabolic process disorder pyrimidine metabolic disorder inborn error of pyrimidine nucleobase metabolic process rare inborn error of pyrimidine nucleobase metabolic process disorder of pyrimidine metabolism
Definitions	ANPM
ID	http://purl.obolibrary.org/obo/MONDO_0019238
closeMatch	http://identifiers.org/meddra/10070969
database_cross_reference	icd11.foundation:771608363 DOID:0050832 UMLS:C0268127 GARD:18967 Orphanet:79193 MedDRA:10070969
definition	ANPM
exactMatch	http://purl.obolibrary.org/obo/Orphanet_79193 http://purl.obolibrary.org/obo/DOID_0050832
has_exact_synonym	inborn pyrimidine nucleobase metabolic process disorder pyrimidine metabolic disorder inborn error of pyrimidine nucleobase metabolic process rare 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
prefLabel	inborn disorder of pyrimidine metabolism
relatedMatch	http://linkedlifedata.com/resource/umls/id/C0268127
treeView	http://purl.obolibrary.org/obo/MONDO_0019254 http://purl.obolibrary.org/obo/MONDO_0019052 http://purl.obolibrary.org/obo/MONDO_0037937
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019254 http://purl.obolibrary.org/obo/MONDO_0019052 http://purl.obolibrary.org/obo/MONDO_0037937

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0019238	OBA	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0019238	EFO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0019238	OBA	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0019238	DOVES	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0019238	EFO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0019238	OBA	LOOM
	http://purl.obolibrary.org/obo/MONDO_0019238	OBA	LOOM
	http://purl.obolibrary.org/obo/MONDO_0019238	DOVES	LOOM