Orphanet Rare Disease Ontology

Last uploaded: December 10, 2025

Id	http://www.orpha.net/ORDO/Orphanet_98053 http://www.orpha.net/ORDO/Orphanet_98053
Preferred Name	Rare genetic disease
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	Rare genetic disease
label	Rare genetic disease
type	http://www.w3.org/2002/07/owl#Class
website link	https://www.orpha.net/en/disease/detail/98053
expert link	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98053
notation	ORPHA:98053 Category Head of classification
prefixIRI	ORDO:Orphanet_98053
hasDbXref	UMLS:C5681510
subClassOf	http://www.orpha.net/ORDO/Orphanet_557492

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