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 conjunctiva morphology (HP:0000502)help
Parent Node:
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Hamartoma of the eye (HP:0010568)help
..Starting node
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Conjunctival hamartoma (HP:0100780)help
Term ID: 100780
Name: Conjunctival hamartoma
Synonym:
Definition: A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.
Comments:
Reference: HP:0100780
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLisch nodules (HP:0009737) help
..expandRetinal hamartoma (HP:0009594) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100780HP:0100780Conjunctival hamartoma0AKT1 CL E G H207201ORPHA112269391164730
HP:0100780HP:0100780Conjunctival hamartoma0KLLN CL E G H100144748201ORPHA1823837212612105
HP:0100780HP:0100780Conjunctival hamartoma0PIK3CA CL E G H5290201ORPHA1573798975171834
HP:0100780HP:0100780Conjunctival hamartoma0PTEN CL E G H5728201ORPHA165820199588601728
HP:0100780HP:0100780Conjunctival hamartoma0SDHB CL E G H6390201ORPHA127966710681185470
HP:0100780HP:0100780Conjunctival hamartoma0SDHC CL E G H6391201ORPHA16241510682602413
HP:0100780HP:0100780Conjunctival hamartoma0SDHD CL E G H6392201ORPHA117436110683602690
HP:0100780HP:0100780Conjunctival hamartoma0SEC23B CL E G H10483201ORPHA112614310702610512
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100780HP:0100780Conjunctival hamartoma0KRT1 CL E G H3848312ORPHA0651336412139350
HP:0100780HP:0100780Conjunctival hamartoma0KRT10 CL E G H3858312ORPHA066666413148080


Genes (10) :AKT1 KLLN KRT1 KRT10 PIK3CA PTEN SDHB SDHC SDHD SEC23B

Diseases (2) :201 312
 

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