Orphanet Rare Disease Ontology

Last uploaded: December 10, 2025

Id	http://www.orpha.net/ORDO/Orphanet_108991 http://www.orpha.net/ORDO/Orphanet_108991
Preferred Name	Syndrome with a central nervous system malformation as a major feature
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	Syndrome with a central nervous system malformation as a major feature
label	Syndrome with a central nervous system malformation as a major feature
type	http://www.w3.org/2002/07/owl#Class
website link	https://www.orpha.net/en/disease/detail/108991
expert link	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108991
notation	ORPHA:108991 Category
prefixIRI	ORDO:Orphanet_108991
hasDbXref	UMLS:C5681756
subClassOf	http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_98044

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