JSON

lissencephaly spectrum disorders

^ http://purl.obolibrary.org/obo/MONDO_0018838

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. [ Orphanet:48471 ]

Term info

database cross reference
  • MESH:D054082 (Orphanet:48471/e)
  • UMLS:C0266463 (Orphanet:48471/e)
  • HP:0001339 (MONDO:otherHierarchy)
  • Orphanet:48471 (MONDO:equivalentTo)
  • GARD:0007300 (MONDO:shared-umls-xref)
  • NCIT:C103921 (MONDO:equivalentTo)
  • DOID:0050453 (MONDO:equivalentTo)
  • OMIMPS:607432 (MONDO:equivalentTo)
  • SCTID:204036008 (MONDO:equivalentTo)
  • MedDRA:10048911 (Orphanet:48471/e)
  • GARD:0012291 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/1312, https://github.com/monarch-initiative/mondo/issues/5588

closeMatch

http://identifiers.org/meddra/10048911

comment

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.

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.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C103921, http://identifiers.org/mesh/D054082, https://omim.org/phenotypicSeries/PS607432, http://purl.obolibrary.org/obo/Orphanet_48471, http://identifiers.org/snomedct/204036008, http://purl.obolibrary.org/obo/DOID_0050453, http://linkedlifedata.com/resource/umls/id/C0266463

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

lissencephaly, lissencephaly (disease), lissencephaly spectrum disorders

has related synonym

macrogyria, large gyri of cerebrum, Broad gyri of cerebrum, pachygyria

id

MONDO:0018838