Human Phenotype Ontology 
Grandparent Node:
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Hamartoma (HP:0010566)help
Grandparent Node:
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Hamartoma of the orbital region (HP:0030670)help
Grandparent Node:
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Neoplasm of the eye (HP:0100012)help
Parent Node:
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Abnormal retinal morphology (HP:0000479)help
Parent Node:
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Hamartoma of the eye (HP:0010568)help
..Starting node
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Retinal hamartoma (HP:0009594)help
Term ID: 9594
Name: Retinal hamartoma
Synonym:
Definition: A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.
Comments:
Reference: HP:0009594
Genes and Diseases:
 
       Child Nodes:
........expandRetinal capillary hemangioma (HP:0009711) help
........expandRetinal astrocytic hamartoma (HP:0012778) help
........expandRetinal cavernous hemangioma (HP:0030508) help
........expandRetinal racemose hemangioma (HP:0030509) help
........expandCombined hamartoma of the retinal pigment epithelium and retina (HP:0030510) help

 Sister Nodes: 
..expandConjunctival hamartoma (HP:0100780) help
..expandLisch nodules (HP:0009737) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009594HP:0009594Retinal hamartoma0TSC1 CL E G H7248805ORPHA1404235112362605284
HP:0009594HP:0009594Retinal hamartoma0TSC2 CL E G H7249805ORPHA11269558112363191092
HP:0009594HP:0009594Retinal hamartoma1TSC1 CL E G H7248805ORPHA1404235112362605284
HP:0009594HP:0009594Retinal hamartoma1TSC2 CL E G H7249805ORPHA11269558112363191092
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009594HP:0009594Retinal hamartoma0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012269391164730
HP:0009594HP:0009594Retinal hamartoma0NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM04377777773607379
HP:0009594HP:0009594Retinal hamartoma0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA065820199588601728
HP:0009594HP:0009594Retinal hamartoma0TSC1 CL E G H7248538ORPHA0404235112362605284
HP:0009594HP:0009594Retinal hamartoma0TSC2 CL E G H7249538ORPHA01269558112363191092
HP:0009594HP:0009594Retinal hamartoma1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012269391164730
HP:0009594HP:0009594Retinal hamartoma1NF2 CL E G H4771101000Neurofibromatosis, type 2101000C0027832OMIM04377777773607379
HP:0009594HP:0009594Retinal hamartoma1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA065820199588601728
HP:0009594HP:0009594Retinal hamartoma1TSC1 CL E G H7248538ORPHA0404235112362605284
HP:0009594HP:0009594Retinal hamartoma1TSC2 CL E G H7249538ORPHA01269558112363191092


Genes (17) :AKT1 FH KIF1B MAX MDH2 NF2 PTEN RET SDHA SDHAF2 SDHB SDHC SDHD TMEM127 TSC1 TSC2 VHL

Diseases (7) :744 101000 538 805 29072 892 193300
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.