Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Lissencephaly
Synonyms
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.

ID

http://www.orpha.net/ORDO/Orphanet_48471

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.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48471

hasDbXref

MedDRA:10048911

UMLS:C0266463

MeSH:D054082

label

Lissencephaly

notation

ORPHA:48471

Category

prefixIRI

ORDO:Orphanet_48471

prefLabel

Lissencephaly

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

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_48471 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_48471 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050453 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050453 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050453 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050453 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0050453 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050453 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050453 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050453 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050453 FNS-H LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085540 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/204036008 SNOMEDCT LOOM
http://radlex.org/RID/RID3766 RADLEX LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037613 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054082 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0001339 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0001339 EFO LOOM
http://purl.obolibrary.org/obo/HP_0001339 HP LOOM
http://purl.obolibrary.org/obo/HP_0001339 UPHENO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050453 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10627 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D054082 MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Lissencephaly PEDTERM LOOM
http://purl.obolibrary.org/obo/NCIT_C103921 BERO LOOM
http://purl.jp/bio/4/id/200906083638079371 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0266463 OCHV LOOM
http://purl.org/obo/owl/HP#HP_0001339 BDO LOOM
http://purl.bioontology.org/ontology/RCD/P223. RCD LOOM
http://purl.obolibrary.org/obo/OMIT_0025671 OMIT LOOM
http://nanbyodata.jp/ontology/NANDO_2200817 NANDO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1771 IFAR LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.507.186 RH-MESH LOOM
http://www.case.edu/EpilepsyOntology.owl#Lissencephaly EPSO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10048911 MEDDRA LOOM
rgo:07513 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.507.249 RH-MESH LOOM
http://www.case.edu/EpSO.owl#Lissencephaly MEPO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C103921 NCIT LOOM