Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	Disorder of purine metabolism
Synonyms
ID	http://www.orpha.net/ORDO/Orphanet_79191
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79191
hasDbXref	ICD-11:5C55.0 UMLS:C0268104 MedDRA:10061476
label	Disorder of purine metabolism
notation	ORPHA:79191 Category
prefixIRI	ORDO:Orphanet_79191
prefLabel	Disorder of purine metabolism
subClassOf	http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_79224

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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_79191	CCONT	SAME_URI
http://www.orpha.net/ORDO/Orphanet_79191	EFO	SAME_URI
http://doe-generated-ontology.com/OntoAD#C0268104	ONTOAD	LOOM
http://www.orpha.net/ORDO/Orphanet_79191	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_79191	EFO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11217	HRDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/32612005	SNOMEDCT	LOOM