Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal morphology (HP:0000479)help
Grandparent Node:
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Hamartoma of the eye (HP:0010568)help
Parent Node:
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Retinal hamartoma (HP:0009594)help
..Starting node
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Retinal astrocytic hamartoma (HP:0012778)help
Term ID: 12778
Name: Retinal astrocytic hamartoma
Synonym:
Definition: A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.
Comments:
Reference: HP:0012778
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCombined hamartoma of the retinal pigment epithelium and retina (HP:0030510) help
..expandRetinal capillary hemangioma (HP:0009711) help
..expandRetinal cavernous hemangioma (HP:0030508) help
..expandRetinal racemose hemangioma (HP:0030509) 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:0012778HP:0012778Retinal astrocytic hamartoma0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0012778HP:0012778Retinal astrocytic hamartoma0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0012778HP:0012778Retinal astrocytic hamartoma0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738


Genes (3) :IFNG TSC1 TSC2

Diseases (1) :ORPHA:805
 

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