Human Phenotype Ontology 
Grandparent Node:
expandBenign neoplasm of the central nervous system (HP:0100835)help
Grandparent Node:
expandHamartoma (HP:0010566)help
Parent Node:
expandAbnormal cerebral cortex morphology (HP:0002538)help
Parent Node:
expandCerebral hamartoma (HP:0009731)help
..Starting node
..expandCortical tubers (HP:0009717)help
Term ID: 9717
Name: Cortical tubers
Synonym:
Definition: Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.
Comments:
Reference: HP:0009717
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypothalamic hamartoma (HP:0002444) help
..expandSubependymal nodules (HP:0009716) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009717HP:0009717Cortical tubers0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent23
HP:0009717HP:0009717Cortical tubers0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0009717HP:0009717Cortical tubers0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent1090
HP:0009717HP:0009717Cortical tubers0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0009717HP:0009717Cortical tubers0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent2738
HP:0009717HP:0009717Cortical tubers0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738


Genes (3) :IFNG TSC1 TSC2

Diseases (3) :ORPHA:805 OMIM:613254 OMIM:191100
 

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