Human Phenotype Ontology 
..Starting node
..expandAnterior predominant thick cortex pachygyria (HP:0020191)help
Term ID: 20191
Name: Anterior predominant thick cortex pachygyria
Synonym: Pachygyria with cortical thickness > 10 mm anterior predominant
Definition: Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.
Comments:
Reference: HP:0020191
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0020191HP:0020191Anterior predominant thick cortex pachygyria0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040282 - Frequent231


Genes (1) :PAFAH1B1

Diseases (1) :ORPHA:95232
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.