Human Phenotype Ontology 
Grandparent Node:
expand
Neoplasm (HP:0002664)help
Parent Node:
expand
Abnormal eye morphology (HP:0012372)help
Parent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
..Starting node
..expand
Neoplasm of the eye (HP:0100012)help
Term ID: 100012
Name: Neoplasm of the eye
Synonym: Eye tumor; Eye tumour; 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 H4693649ORPHA12637678300658
HP:0100012HP:0100012Neoplasm of the eye0NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0010568Hamartoma of the eye1NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0007716Uveal melanoma1NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0010568Hamartoma of the eye1NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0007716Uveal melanoma1NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0012777Retinal neoplasm1NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0100011Scleral schwannoma1NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0025604Orbital schwannoma1NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0012777Retinal neoplasm1NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0100011Scleral schwannoma1NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0025604Orbital schwannoma1NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0011524Iris melanoma2NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0009919Retinoblastoma2NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0009594Retinal hamartoma2NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0012055Ciliary body melanoma2NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0011524Iris melanoma2NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0009919Retinoblastoma2NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0009594Retinal hamartoma2NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0012055Ciliary body melanoma2NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0100780Conjunctival hamartoma2NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0009737Lisch nodules2NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0012054Choroidal melanoma2NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0100780Conjunctival hamartoma2NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0009737Lisch nodules2NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0012054Choroidal melanoma2NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0012778Retinal astrocytic hamartoma3NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0030508Retinal cavernous hemangioma3NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0012778Retinal astrocytic hamartoma3NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0030508Retinal cavernous hemangioma3NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0030509Retinal racemose hemangioma3NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0009711Retinal capillary hemangioma3NDP CL E G H4693649ORPHA12637678300658
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0009711Retinal capillary hemangioma3NDP CL E G H4693649ORPHA12457678300658
HP:0100012HP:0030509Retinal racemose hemangioma3NDP CL E G H4693649ORPHA12457678300658
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100012HP:0100012Neoplasm of the eye0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0100012Neoplasm of the eye0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0100012Neoplasm of the eye0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0100012Neoplasm of the eye0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0100012Neoplasm of the eye0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0100012Neoplasm of the eye0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0100012Neoplasm of the eye0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0100012Neoplasm of the eye0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0100012Neoplasm of the eye0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0100012Neoplasm of the eye0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0100012Neoplasm of the eye0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0100012Neoplasm of the eye0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0100012Neoplasm of the eye0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0100012Neoplasm of the eye0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0010568Hamartoma of the eye1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0007716Uveal melanoma1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0010568Hamartoma of the eye1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0007716Uveal melanoma1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0012777Retinal neoplasm1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0100011Scleral schwannoma1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0025604Orbital schwannoma1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0012777Retinal neoplasm1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0100011Scleral schwannoma1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0025604Orbital schwannoma1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0010568Hamartoma of the eye1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0007716Uveal melanoma1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0010568Hamartoma of the eye1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0007716Uveal melanoma1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0012777Retinal neoplasm1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0100011Scleral schwannoma1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0025604Orbital schwannoma1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0012777Retinal neoplasm1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0100011Scleral schwannoma1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0025604Orbital schwannoma1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0010568Hamartoma of the eye1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0007716Uveal melanoma1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0010568Hamartoma of the eye1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0007716Uveal melanoma1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0012777Retinal neoplasm1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0100011Scleral schwannoma1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0025604Orbital schwannoma1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0100011Scleral schwannoma1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0025604Orbital schwannoma1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0012777Retinal neoplasm1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0010568Hamartoma of the eye1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0007716Uveal melanoma1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0007716Uveal melanoma1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0010568Hamartoma of the eye1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0100011Scleral schwannoma1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0025604Orbital schwannoma1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0012777Retinal neoplasm1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0100011Scleral schwannoma1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0025604Orbital schwannoma1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0012777Retinal neoplasm1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0007716Uveal melanoma1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0010568Hamartoma of the eye1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0007716Uveal melanoma1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0010568Hamartoma of the eye1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0100011Scleral schwannoma1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0025604Orbital schwannoma1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0012777Retinal neoplasm1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0100011Scleral schwannoma1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0025604Orbital schwannoma1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0012777Retinal neoplasm1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0007716Uveal melanoma1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0010568Hamartoma of the eye1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0007716Uveal melanoma1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0010568Hamartoma of the eye1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0100011Scleral schwannoma1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0025604Orbital schwannoma1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0012777Retinal neoplasm1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0025604Orbital schwannoma1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0012777Retinal neoplasm1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0100011Scleral schwannoma1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0007716Uveal melanoma1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0010568Hamartoma of the eye1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0007716Uveal melanoma1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0010568Hamartoma of the eye1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0025604Orbital schwannoma1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0012777Retinal neoplasm1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0100011Scleral schwannoma1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0025604Orbital schwannoma1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0012777Retinal neoplasm1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0100011Scleral schwannoma1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0011524Iris melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0009919Retinoblastoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0009594Retinal hamartoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0012055Ciliary body melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0011524Iris melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0009919Retinoblastoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0009594Retinal hamartoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0012055Ciliary body melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0100780Conjunctival hamartoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0009737Lisch nodules2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0012054Choroidal melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0100780Conjunctival hamartoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0009737Lisch nodules2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0012054Choroidal melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0009919Retinoblastoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0009594Retinal hamartoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0012055Ciliary body melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0011524Iris melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0009919Retinoblastoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0009594Retinal hamartoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0012055Ciliary body melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0011524Iris melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0100780Conjunctival hamartoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0009737Lisch nodules2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0012054Choroidal melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0009737Lisch nodules2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0012054Choroidal melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0100780Conjunctival hamartoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0009919Retinoblastoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0009594Retinal hamartoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0012055Ciliary body melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0011524Iris melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0009919Retinoblastoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0009594Retinal hamartoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0012055Ciliary body melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0011524Iris melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0009737Lisch nodules2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0012054Choroidal melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0100780Conjunctival hamartoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0009737Lisch nodules2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0012054Choroidal melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0100780Conjunctival hamartoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0009919Retinoblastoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0009594Retinal hamartoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0012055Ciliary body melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0011524Iris melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0009919Retinoblastoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0009594Retinal hamartoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0012055Ciliary body melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0011524Iris melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0009737Lisch nodules2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0012054Choroidal melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0100780Conjunctival hamartoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0009737Lisch nodules2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0012054Choroidal melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0100780Conjunctival hamartoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0009919Retinoblastoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0009594Retinal hamartoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0012055Ciliary body melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0011524Iris melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0009594Retinal hamartoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0012055Ciliary body melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0011524Iris melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0009919Retinoblastoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0009737Lisch nodules2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0012054Choroidal melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0100780Conjunctival hamartoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0012054Choroidal melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0100780Conjunctival hamartoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0009737Lisch nodules2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0009594Retinal hamartoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0012055Ciliary body melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0011524Iris melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0009919Retinoblastoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0009594Retinal hamartoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0012055Ciliary body melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0011524Iris melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0009919Retinoblastoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0012054Choroidal melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0100780Conjunctival hamartoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0009737Lisch nodules2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0012054Choroidal melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0100780Conjunctival hamartoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0009737Lisch nodules2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0009594Retinal hamartoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0012055Ciliary body melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0011524Iris melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0009919Retinoblastoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0012055Ciliary body melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0011524Iris melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0009919Retinoblastoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0009594Retinal hamartoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0012054Choroidal melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0100780Conjunctival hamartoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0009737Lisch nodules2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0012054Choroidal melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0100780Conjunctival hamartoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0009737Lisch nodules2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0012778Retinal astrocytic hamartoma3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0030508Retinal cavernous hemangioma3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0012778Retinal astrocytic hamartoma3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0030508Retinal cavernous hemangioma3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0009711Retinal capillary hemangioma3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0030509Retinal racemose hemangioma3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0009711Retinal capillary hemangioma3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0030509Retinal racemose hemangioma3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0100012HP:0012778Retinal astrocytic hamartoma3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0030508Retinal cavernous hemangioma3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0012778Retinal astrocytic hamartoma3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0030508Retinal cavernous hemangioma3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0009711Retinal capillary hemangioma3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0030509Retinal racemose hemangioma3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0009711Retinal capillary hemangioma3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0030509Retinal racemose hemangioma3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0100012HP:0012778Retinal astrocytic hamartoma3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0030508Retinal cavernous hemangioma3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0012778Retinal astrocytic hamartoma3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0030508Retinal cavernous hemangioma3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0009711Retinal capillary hemangioma3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0030509Retinal racemose hemangioma3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0009711Retinal capillary hemangioma3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0030509Retinal racemose hemangioma3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0100012HP:0012778Retinal astrocytic hamartoma3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0030508Retinal cavernous hemangioma3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0012778Retinal astrocytic hamartoma3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0030508Retinal cavernous hemangioma3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0009711Retinal capillary hemangioma3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0030509Retinal racemose hemangioma3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0009711Retinal capillary hemangioma3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0030509Retinal racemose hemangioma3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0100012HP:0012778Retinal astrocytic hamartoma3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0030508Retinal cavernous hemangioma3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0012778Retinal astrocytic hamartoma3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0030508Retinal cavernous hemangioma3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0009711Retinal capillary hemangioma3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0030509Retinal racemose hemangioma3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0009711Retinal capillary hemangioma3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0030509Retinal racemose hemangioma3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0100012HP:0012778Retinal astrocytic hamartoma3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0030508Retinal cavernous hemangioma3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0012778Retinal astrocytic hamartoma3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0030508Retinal cavernous hemangioma3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0009711Retinal capillary hemangioma3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0030509Retinal racemose hemangioma3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0009711Retinal capillary hemangioma3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0030509Retinal racemose hemangioma3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0100012HP:0012778Retinal astrocytic hamartoma3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0030508Retinal cavernous hemangioma3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0012778Retinal astrocytic hamartoma3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0030508Retinal cavernous hemangioma3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0009711Retinal capillary hemangioma3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0030509Retinal racemose hemangioma3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0100012HP:0030510Combined hamartoma of the retinal pigment epithelium and retina3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0009711Retinal capillary hemangioma3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0100012HP:0030509Retinal racemose hemangioma3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208


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 August 2021 release.