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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007716HP:0007716Uveal melanoma0BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11191261950603089
HP:0007716HP:0007716Uveal melanoma1BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11191261950603089
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (5) :BAP1 CYSLTR2 GNA11 GNAQ SF3B1

Diseases (2) :614327 39044
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.