Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Inborn errors of metabolism
Synonyms	Maladie métabolique Malattia metabolica Enfermedad metabólica Stoffwechselkrankheit Metabolic disease
ID	http://www.limics.org/hrdo/rdfns#pat_id_10507
altLabel	Maladie métabolique Malattia metabolica Enfermedad metabólica Stoffwechselkrankheit Metabolic disease
id_Medline	neant
id_Orpha	68367
patType	group of phenomes
prefixIRI	hrdo:pat_id_10507
prefLabel	Errores congénitos del metabolismo Erreurs innées du métabolisme Doença metabólica rara Difetti congeniti del metabolismo Inborn errors of metabolism Stoffwechselkrankheit, angeborene
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_13071 http://www.limics.org/hrdo/rdfns#pat_id_21728

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0019052	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019052	OBA	LOOM
http://purl.obolibrary.org/obo/MONDO_0019052	EFO	LOOM
http://nanbyodata.jp/ontology/NANDO_2100159	NANDO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_655	NATPRO	LOOM
http://localhost/plosthes.2017-1#10522	PLOSTHES	LOOM
http://purl.obolibrary.org/obo/DOID_655	CLO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019052	GCBO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019052	EPIO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019052	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0019052	KTAO	LOOM
http://doe-generated-ontology.com/OntoAD#C0025521	ONTOAD	LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Inborn_errors_of_metabolism	RPO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10021605	MEDDRA	LOOM
http://purl.jp/bio/4/id/200906014283685150	IOBC	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Errors_of_Metabolism	CSEO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0025521	OCHV	LOOM