Human Phenotype Ontology 
..Starting node
..expandPerisylvian predominant thick cortex pachygyria (HP:0020190)help
Term ID: 20190
Name: Perisylvian predominant thick cortex pachygyria
Synonym: Pachygyria with cortical thickness > 10 mm perisylvian predominant
Definition: Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian 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:0020190
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:0020190HP:0020190Perisylvian predominant thick cortex pachygyria0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent88
HP:0020190HP:0020190Perisylvian predominant thick cortex pachygyria0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent11
HP:0020190HP:0020190Perisylvian predominant thick cortex pachygyria0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent50


Genes (3) :ADGRG1 PI4KA SRPX2

Diseases (1) :ORPHA:98889
 

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