Human Phenotype Ontology 
Grandparent Node:
expandAbnormal retinal vascular morphology (HP:0008046)help
Parent Node:
expandRetinal vascular malformation (HP:0007797)help
..Starting node
..expandRetinal cavernous angioma (HP:0011513)help
Term ID: 11513
Name: Retinal cavernous angioma
Synonym:
Definition: A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance.
Comments:
Reference: HP:0011513
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011513HP:0011513Retinal cavernous angioma0CCM2 CL E G H8360521708ORPHA:221061Familial cerebral cavernous malformationHP:0040283 - Occasional37
HP:0011513HP:0011513Retinal cavernous angioma0KRIT1 CL E G H8891573ORPHA:221061Familial cerebral cavernous malformationHP:0040283 - Occasional92
HP:0011513HP:0011513Retinal cavernous angioma0PDCD10 CL E G H112358761ORPHA:221061Familial cerebral cavernous malformationHP:0040283 - Occasional21


Genes (3) :CCM2 KRIT1 PDCD10

Diseases (1) :ORPHA:221061
 

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