The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis. [ Orphanet:48471 ]
Synonyms: lissencephaly lissencephaly (disease) lissencephaly spectrum disorders
Term information
- GARD:12291 (Orphanet:48471)
- HP:0001339 (MONDO:otherHierarchy)
- SCTID:204036008 (MONDO:equivalentTo)
- MedDRA:10048911 (Orphanet:48471/e)
- Orphanet:48471 (MONDO:equivalentTo)
- NORD:1374 (MONDO:NORD)
- MESH:D054082 (Orphanet:48471/e)
- DOID:0050453 (MONDO:equivalentTo)
- UMLS:C0266463 (Orphanet:48471/e)
- NCIT:C103921 (MONDO:equivalentTo)
- OMIMPS:607432 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, clingen, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/1312
https://github.com/monarch-initiative/mondo/issues/5588
Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping.
http://purl.obolibrary.org/obo/NCIT_C103921
http://identifiers.org/mesh/D054082
https://omim.org/phenotypicSeries/PS607432
http://identifiers.org/snomedct/204036008
http://purl.obolibrary.org/obo/DOID_0050453
http://linkedlifedata.com/resource/umls/id/C0266463
http://www.orpha.net/ORDO/Orphanet_48471