Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Disorder of branched-chain amino acid metabolism
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_11223
id_Medline	neant
id_OMS	E71.0 E71.1
id_Orpha	79197
id_SNOMEDCT	116020001
id_UMLS	C0342712
patType	group of phenomes
prefixIRI	hrdo:pat_id_11223
prefLabel	Disorder of branched-chain amino acid metabolism
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_11124

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/116020001	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/RCD/C303.	RCD	LOOM
http://www.orpha.net/ORDO/Orphanet_79197	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_79197	ORDO	LOOM
http://www.orpha.net/ORDO/Orphanet_79197	EFO	LOOM