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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Melanoma (HP:0002861)help
Parent Node:
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Neoplasm of the eye (HP:0100012)help
..Starting node
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Uveal melanoma (HP:0007716)help
Term ID: 7716
Name: Uveal melanoma
Synonym: Intraocular melanoma
Definition: A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).
Comments:
Reference: HP:0007716
Genes and Diseases:
 
       Child Nodes:
........expandIris melanoma (HP:0011524) help
........expandChoroidal melanoma (HP:0012054) help
........expandCiliary body melanoma (HP:0012055) help

 Sister Nodes: 
..expandHamartoma of the eye (HP:0010568) help
..expandOrbital schwannoma (HP:0025604) help
..expandRetinal neoplasm (HP:0012777) help
..expandScleral schwannoma (HP:0100011) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007716HP:0007716Uveal melanoma0BAP1 CL E G H8314950OMIM:606661MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2184
HP:0007716HP:0007716Uveal melanoma0BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome.184
HP:0007716HP:0007716Uveal melanoma0BAP1 CL E G H8314950ORPHA:39044Uveal melanoma184
HP:0007716HP:0007716Uveal melanoma0BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant.276
HP:0007716HP:0007716Uveal melanoma0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanoma1
HP:0007716HP:0007716Uveal melanoma0GNA11 CL E G H27674379ORPHA:39044Uveal melanoma16
HP:0007716HP:0007716Uveal melanoma0GNAQ CL E G H27764390ORPHA:39044Uveal melanoma7
HP:0007716HP:0007716Uveal melanoma0MBD4 CL E G H89306919OMIM:6199751
HP:0007716HP:0007716Uveal melanoma0MBD4 CL E G H89306919OMIM:606660MELANOMA, UVEAL, SUSCEPTIBILITY TO, 11
HP:0007716HP:0007716Uveal melanoma0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanoma19
HP:0007716HP:0007716Uveal melanoma0STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant.740
HP:0007716HP:0011524Iris melanoma1BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040282 - Frequent184
HP:0007716HP:0012054Choroidal melanoma1BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040281 - Very frequent184
HP:0007716HP:0012055Ciliary body melanoma1BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040282 - Frequent184
HP:0007716HP:0012054Choroidal melanoma1CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040281 - Very frequent1
HP:0007716HP:0012055Ciliary body melanoma1CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040282 - Frequent1
HP:0007716HP:0011524Iris melanoma1CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040282 - Frequent1
HP:0007716HP:0012054Choroidal melanoma1GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040281 - Very frequent16
HP:0007716HP:0012055Ciliary body melanoma1GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040282 - Frequent16
HP:0007716HP:0011524Iris melanoma1GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040282 - Frequent16
HP:0007716HP:0011524Iris melanoma1GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040282 - Frequent7
HP:0007716HP:0012054Choroidal melanoma1GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040281 - Very frequent7
HP:0007716HP:0012055Ciliary body melanoma1GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040282 - Frequent7
HP:0007716HP:0011524Iris melanoma1SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040282 - Frequent19
HP:0007716HP:0012054Choroidal melanoma1SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040281 - Very frequent19
HP:0007716HP:0012055Ciliary body melanoma1SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040282 - Frequent19


Genes (8) :BAP1 BRAF CYSLTR2 GNA11 GNAQ MBD4 SF3B1 STK11

Diseases (6) :OMIM:606661 OMIM:614327 ORPHA:39044 OMIM:155600 OMIM:619975 OMIM:606660
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.