Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of fundus pigmentation (HP:0031605)help
Parent Node:
expand
Hyperpigmentation of the fundus (HP:0011512)help
..Starting node
..expand
Large hyperpigmented retinal spots (HP:0007658)help
Term ID: 7658
Name: Large hyperpigmented retinal spots
Synonym:
Definition:
Comments:
Reference: HP:0007658
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital hypertrophy of retinal pigment epithelium (HP:0007649) help
..expandReticular pigmentary degeneration (HP:0007937) 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:0007658HP:0007658Large hyperpigmented retinal spots0CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory.6


Genes (1) :CAPN5

Diseases (1) :OMIM:193235
 

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