Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Disorder of phenylalanine metabolism
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_20625
id_Medline	neant
id_OMS	E70.0 E70.1
id_Orpha	284814
patType	group of phenomes
prefixIRI	hrdo:pat_id_20625
prefLabel	Disorder of phenylalanine metabolism Difetto del metabolismo della fenilalanina Trouble du métabolisme de la phénylalanine Trastorno del metabolismo de la fenilalanina Phenylalanin-Stoffwechselstörung Doença do metabolismo da fenilalanina
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_11216

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
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.orpha.net/ORDO/Orphanet_284814	ORDO	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