Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormal eye morphology (HP:0012372)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
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Neoplasm of the eye (HP:0100012)help
Term ID: 100012
Name: Neoplasm of the eye
Synonym: Eye tumor; Neoplasia of the eye
Definition: A tumor (abnormal growth of tissue) of the eye.
Comments:
Reference: HP:0100012
Genes and Diseases:
 
       Child Nodes:
........expandIntraocular melanoma (HP:0007716) help
................... HP:0011524 Iris melanoma
................... HP:0012054 Choroidal melanoma
................... HP:0012055 Ciliary body melanoma
........expandHamartoma of the eye (HP:0010568) help
................... HP:0009594 Retinal hamartoma
................... HP:0009737 Lisch nodules
................... HP:0100780 Conjunctival hamartoma
........expandRetinal neoplasm (HP:0012777) help
................... HP:0009919 Retinoblastoma
........expandOrbital schwannoma (HP:0025604) help
........expandScleral schwannoma (HP:0100011) help

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100012HP:0100012Neoplasm of the eye0NDP CL E G H4693649ORPHA11672077678300658
HP:0100012HP:0100012Neoplasm of the eye1NDP CL E G H4693649ORPHA11672077678300658
HP:0100012HP:0100012Neoplasm of the eye2NDP CL E G H4693649ORPHA11672077678300658
HP:0100012HP:0100012Neoplasm of the eye3NDP CL E G H4693649ORPHA11672077678300658
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100012HP:0100012Neoplasm of the eye0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA017672718600811
HP:0100012HP:0100012Neoplasm of the eye0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA01082273434126340
HP:0100012HP:0100012Neoplasm of the eye0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA0201223435133510
HP:0100012HP:0100012Neoplasm of the eye0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA0723483436133520
HP:0100012HP:0100012Neoplasm of the eye0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA0592633437133530
HP:0100012HP:0100012Neoplasm of the eye0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA05115512814611153
HP:0100012HP:0100012Neoplasm of the eye0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA010030712816613208
HP:0100012HP:0100012Neoplasm of the eye1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA017672718600811
HP:0100012HP:0100012Neoplasm of the eye1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA01082273434126340
HP:0100012HP:0100012Neoplasm of the eye1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA0201223435133510
HP:0100012HP:0100012Neoplasm of the eye1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA0723483436133520
HP:0100012HP:0100012Neoplasm of the eye1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA0592633437133530
HP:0100012HP:0100012Neoplasm of the eye1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA05115512814611153
HP:0100012HP:0100012Neoplasm of the eye1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA010030712816613208
HP:0100012HP:0100012Neoplasm of the eye2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA017672718600811
HP:0100012HP:0100012Neoplasm of the eye2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA01082273434126340
HP:0100012HP:0100012Neoplasm of the eye2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA0201223435133510
HP:0100012HP:0100012Neoplasm of the eye2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA0723483436133520
HP:0100012HP:0100012Neoplasm of the eye2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA0592633437133530
HP:0100012HP:0100012Neoplasm of the eye2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA05115512814611153
HP:0100012HP:0100012Neoplasm of the eye2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA010030712816613208
HP:0100012HP:0100012Neoplasm of the eye3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA017672718600811
HP:0100012HP:0100012Neoplasm of the eye3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA01082273434126340
HP:0100012HP:0100012Neoplasm of the eye3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA0201223435133510
HP:0100012HP:0100012Neoplasm of the eye3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA0723483436133520
HP:0100012HP:0100012Neoplasm of the eye3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA0592633437133530
HP:0100012HP:0100012Neoplasm of the eye3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA05115512814611153
HP:0100012HP:0100012Neoplasm of the eye3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA010030712816613208


Genes (38) :AKT1 BAP1 CHEK2 CYSLTR2 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 FH GNA11 GNAQ KIF1B KLLN KRT1 KRT10 MAX MDH2 NDP NF1 NF2 PIK3CA PTEN RB1 RET SDHA SDHAF2 SDHB SDHC SDHD SEC23B SF3B1 TMEM127 TSC1 TSC2 VHL XPA XPC

Diseases (20) :910 649 614327 201 744 39044 259500 312 193520 162210 162200 601321 101000 1587 180200 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.