Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormality of the orbital region (HP:0000315)help
..Starting node
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Hamartoma of the orbital region (HP:0030670)help
Term ID: 30670
Name: Hamartoma of the orbital region
Synonym:
Definition: A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.
Comments:
Reference: HP:0030670
Genes and Diseases:
 
       Child Nodes:
........expandHamartoma of the eye (HP:0010568) help
................... HP:0009594 Retinal hamartoma
................... HP:0009737 Lisch nodules
................... HP:0100780 Conjunctival hamartoma
........expandLymphangioma of the orbit (HP:0500091) help

 Sister Nodes: 
..expandAbnormal ocular adnexa morphology (HP:0030669) help
..expandAbnormality of bony orbit of skull (HP:3000030) help
..expandAbnormality of globe location (HP:0100886) help
..expandAbnormality of globe size (HP:0100887) help
..expandColoboma (HP:0000589) 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:0030670HP:0030670Hamartoma of the orbital region0 CL E G H
HP:0030670HP:0030670Hamartoma of the orbital region1 CL E G H
HP:0030670HP:0030670Hamartoma of the orbital region2 CL E G H
HP:0030670HP:0030670Hamartoma of the orbital region3 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.