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Human Phenotype Ontology
Last uploaded:
June 8, 2026
| Id | http://purl.obolibrary.org/obo/HP_0001339
http://purl.obolibrary.org/obo/HP_0001339
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|---|---|
| Preferred Name | Lissencephaly |
| 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.
A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
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| Synonyms |
Fewer or absent grooves in brain
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. |
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| prefLabel | Lissencephaly
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| label | Lissencephaly
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| comment | 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.
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| has_exact_synonym | Fewer or absent grooves in brain
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| has_obo_namespace | human_phenotype
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| type | |
| id | HP:0001339
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| has_alternative_id | HP:0002537
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| notation | HP:0001339
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| database_cross_reference |
UMLS:C0266463
UMLS:C1879312
SNOMEDCT_US:204036008
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| subClassOf |
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