Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

lissencephaly spectrum disorders
Synonyms

macrogyria

pachygyria

Broad gyri of cerebrum

large gyri of cerebrum

lissencephaly (disease)

lissencephaly spectrum disorders

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. 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.
ID

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

macrogyria

pachygyria

Broad gyri of cerebrum

large gyri of cerebrum

lissencephaly (disease)

lissencephaly spectrum disorders

lissencephaly
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.

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.
has characteristic

http://purl.obolibrary.org/obo/MONDO_0021136
has_exact_synonym

lissencephaly (disease)

lissencephaly spectrum disorders

lissencephaly
has_related_synonym

macrogyria

pachygyria

Broad gyri of cerebrum

large gyri of cerebrum
IAO_0000233

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

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

lissencephaly spectrum disorders
prefixIRI

MONDO:0018838
prefLabel

lissencephaly spectrum disorders
textual 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.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0003847

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0021147
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