Human Phenotype Ontology 
Grandparent Node:
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Vascular neoplasm (HP:0100742)help
Parent Node:
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Abnormal morphology of the choroidal vasculature (HP:0025568)help
Parent Node:
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Hemangioma (HP:0001028)help
..Starting node
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Choroidal hemangioma (HP:0007872)help
Term ID: 7872
Name: Choroidal hemangioma
Synonym:
Definition: The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.
Comments:
Reference: HP:0007872
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandArachnoid hemangiomatosis (HP:0012222) help
..expandCapillary hemangioma (HP:0005306) help
..expandCardiac hemangioma (HP:0011673) help
..expandCavernous hemangioma (HP:0001048) help
..expandFacial hemangioma (HP:0000329) help
..expandGlabellar hemangioma (HP:0001076) help
..expandGlomeruloid hemangioma (HP:0031357) help
..expandHemangiomatosis (HP:0007461) help
..expandHepatic hemangioma (HP:0031207) help
..expandPerineal hemangioma (HP:0031449) help
..expandRetinal capillary hemangioma (HP:0009711) help
..expandTufted angioma (HP:0012329) 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:0007872HP:0007872Choroidal hemangioma0CCM2 CL E G H8360521708ORPHA:221061Familial cerebral cavernous malformationHP:0040283 - Occasional37
HP:0007872HP:0007872Choroidal hemangioma0GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome.7
HP:0007872HP:0007872Choroidal hemangioma0KRIT1 CL E G H8891573ORPHA:221061Familial cerebral cavernous malformationHP:0040283 - Occasional92
HP:0007872HP:0007872Choroidal hemangioma0PDCD10 CL E G H112358761ORPHA:221061Familial cerebral cavernous malformationHP:0040283 - Occasional21


Genes (4) :CCM2 GNAQ KRIT1 PDCD10

Diseases (2) :ORPHA:221061 OMIM:185300
 

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