Human Phenotype Ontology 
Grandparent Node:
expandMelanoma (HP:0002861)help
Grandparent Node:
expandNeoplasm of the eye (HP:0100012)help
Parent Node:
expandUveal melanoma (HP:0007716)help
..Starting node
..expandChoroidal melanoma (HP:0012054)help
Term ID: 12054
Name: Choroidal melanoma
Synonym:
Definition: Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).
Comments:
Reference: HP:0012054
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCiliary body melanoma (HP:0012055) help
..expandIris melanoma (HP:0011524) 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:0012054HP:0012054Choroidal melanoma0BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040281 - Very frequent184
HP:0012054HP:0012054Choroidal melanoma0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040281 - Very frequent1
HP:0012054HP:0012054Choroidal melanoma0GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040281 - Very frequent16
HP:0012054HP:0012054Choroidal melanoma0GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040281 - Very frequent7
HP:0012054HP:0012054Choroidal melanoma0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040281 - Very frequent19


Genes (5) :BAP1 CYSLTR2 GNA11 GNAQ SF3B1

Diseases (1) :ORPHA:39044
 

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