Orphanet Rare Disease Ontology

Last uploaded: December 10, 2025

Id	http://www.orpha.net/ORDO/Orphanet_48471 http://www.orpha.net/ORDO/Orphanet_48471
Preferred Name	Lissencephaly
Definitions	The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.
Type	http://www.w3.org/2002/07/owl#Class

definition_citation	Orphanet
definition	The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.
prefLabel	Lissencephaly
label	Lissencephaly
type	http://www.w3.org/2002/07/owl#Class
website link	https://www.orpha.net/en/disease/detail/48471
expert link	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48471
notation	ORPHA:48471 Category
prefixIRI	ORDO:Orphanet_48471
hasDbXref	MedDRA:10048911 UMLS:C0266463 MeSH:D054082 MONDO:0018838
subClassOf	http://www.orpha.net/ORDO/Orphanet_269564 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_166478 http://www.orpha.net/ORDO/Orphanet_108991 See more See less

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