Human Phenotype Ontology 
..Starting node
..expandPachygyria with 5-10 mm cortical thickness (HP:0020192)help
Term ID: 20192
Name: Pachygyria with 5-10 mm cortical thickness
Synonym:
Definition: Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.
Comments:
Reference: HP:0020192
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:0020192HP:0020192Pachygyria with 5-10 mm cortical thickness0 CL E G H
HP:0020192HP:0020188Anterior predominant pachygyria with 5-10 mm cortical thickness1 CL E G H


Genes (0) :

Diseases (0) :
 

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