Human Phenotype Ontology 
Grandparent Node:
expandAbnormal astrocyte morphology (HP:0100707)help
Grandparent Node:
expandGlioma (HP:0009733)help
Parent Node:
expandAstrocytoma (HP:0009592)help
..Starting node
..expandSubependymal giant-cell astrocytoma (HP:0009718)help
Term ID: 9718
Name: Subependymal giant-cell astrocytoma
Synonym:
Definition: A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.
Comments:
Reference: HP:0009718
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:0009718HP:0009718Subependymal giant-cell astrocytoma0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional23
HP:0009718HP:0009718Subependymal giant-cell astrocytoma0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0009718HP:0009718Subependymal giant-cell astrocytoma0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional1090
HP:0009718HP:0009718Subependymal giant-cell astrocytoma0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional2738
HP:0009718HP:0009718Subependymal giant-cell astrocytoma0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738


Genes (3) :IFNG TSC1 TSC2

Diseases (2) :ORPHA:805 OMIM:613254
 

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