PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Phenotype Of Lissencephaly
Synonyms
Definitions

Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci.

ID

http://www.phoc.org.cn/pmo/class/PMO_00086006

Database_Cross_Reference

PMV:MC04829224

Definition

Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci.

label

Phenotype Of Lissencephaly

MCID

MC04829224

PMOID

PMO:00086006

prefixIRI

pmo:PMO_00086006

prefLabel

Phenotype Of Lissencephaly

Synonym

Lissencephaly [Disease/Finding]

lissencephaly (diagnosis)

Lissencephalia

Lissencephaly pachygyria

Lissencephalies

Pachygyria/lissencephaly

Lissencephaly (disorder)

lissencephaly

Tree Number

T3.17.4.5.5.2.4

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00010299

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