01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Lissencephaly
- Standard Disease Name
- lissencephaly
- MeSH Tree
- No data
- ICD-10
- Q04.3
Identifiers
- DO ID
- No data
- MeSH ID
- D054082
- OMIM ID
- MTHU037613|MTHU050742
- UMLS ID
- C0266463
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_NICHD_1602D:A brain malformation characterized by smooth folds and grooves in the brain.|NCI2016_02D:A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms.|MSH2017_2016_08_12:A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.|HPO2016_07_04:A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure. [HPO:curators]
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