Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Preferred Name	Disorder of branched-chain amino acid metabolism
Synonyms
ID	http://www.orpha.net/ORDO/Orphanet_79197
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79197
hasDbXref	ICD-11:5C50.D UMLS:C0342712
label	Disorder of branched-chain amino acid metabolism
notation	ORPHA:79197 Category
prefixIRI	ORDO:Orphanet_79197
prefLabel	Disorder of branched-chain amino acid metabolism
subClassOf	http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_79062

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_79197	CCONT	SAME_URI
http://www.orpha.net/ORDO/Orphanet_79197	EFO	SAME_URI
http://purl.bioontology.org/ontology/SNOMEDCT/116020001	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/RCD/C303.	RCD	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11223	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_79197	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_79197	EFO	LOOM