Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye morphology (HP:0012372)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Hamartoma (HP:0010566)help
Parent Node:
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Hamartoma of the orbital region (HP:0030670)help
Parent Node:
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Neoplasm of the eye (HP:0100012)help
..Starting node
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Hamartoma of the eye (HP:0010568)help
Term ID: 10568
Name: Hamartoma of the eye
Synonym:
Definition: A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.
Comments:
Reference: HP:0010568
Genes and Diseases:
 
       Child Nodes:
........expandRetinal hamartoma (HP:0009594) help
................... HP:0009711 Retinal capillary hemangioma
................... HP:0012778 Retinal astrocytic hamartoma
................... HP:0030508 Retinal cavernous hemangioma
................... HP:0030509 Retinal racemose hemangioma
................... HP:0030510 Combined hamartoma of the retinal pigment epithelium and retina
........expandLisch nodules (HP:0009737) help
........expandConjunctival hamartoma (HP:0100780) help

 Sister Nodes: 
..expandOrbital schwannoma (HP:0025604) help
..expandRetinal neoplasm (HP:0012777) help
..expandScleral schwannoma (HP:0100011) help
..expandUveal melanoma (HP:0007716) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010568HP:0010568Hamartoma of the eye0 CL E G H
HP:0010568HP:0010568Hamartoma of the eye1 CL E G H
HP:0010568HP:0010568Hamartoma of the eye2 CL E G H


Genes (23) :AKT1 FH KIF1B KLLN KRT1 KRT10 MAX MDH2 NF1 NF2 PIK3CA PTEN RET SDHA SDHAF2 SDHB SDHC SDHD SEC23B TMEM127 TSC1 TSC2 VHL

Diseases (13) :201 744 312 193520 162210 162200 601321 101000 805 538 29072 892 193300
 

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