Human Phenotype Ontology 
..Starting node
..expandPosterior predominant thick cortex pachygyria (HP:0020189)help
Term ID: 20189
Name: Posterior predominant thick cortex pachygyria
Synonym: Occipital predomimant classic pachygyria; Pachygyria with cortical thickness over 10 mm posterior predominant
Definition: Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.
Comments:
Reference: HP:0020189
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:0020189HP:0020189Posterior predominant thick cortex pachygyria0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040283 - Occasional231


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.