Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023

Preferred Name	Disorder of phenylalanine metabolism
Synonyms
ID	http://www.orpha.net/ORDO/Orphanet_284814
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284814
hasDbXref	UMLS:C0268461
label	Disorder of phenylalanine metabolism
notation	ORPHA:284814 Category
prefixIRI	ORDO:Orphanet_284814
prefLabel	Disorder of phenylalanine metabolism
subClassOf	http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_79190

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_284814	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017306	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0017306	OBA	LOOM
http://purl.obolibrary.org/obo/MONDO_0017306	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0017306	OBA	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_20625	HRDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/12957008	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/MONDO_0017306	DOVES	LOOM
http://purl.bioontology.org/ontology/RCD/X40Ra	RCD	LOOM