Human Phenotype Ontology 
Grandparent Node:
expandAbnormal fundus morphology (HP:0001098)help
Parent Node:
expandAbnormal retinal morphology (HP:0000479)help
..Starting node
..expandSub-RPE deposits (HP:0031531)help
Term ID: 31531
Name: Sub-RPE deposits
Synonym:
Definition: Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.
Comments:
Reference: HP:0031531
Genes and Diseases:
 
       Child Nodes:
........expandFocal sub-RPE deposits (HP:0031532) help
........expandMultifocal sub-RPE deposits (HP:0031533) help

 Sister Nodes: 
..expandAbnormal chorioretinal morphology (HP:0000532) help
..expandAbnormal macular morphology (HP:0001103) help
..expandAbnormal retinal vascular morphology (HP:0008046) help
..expandAbnormality of retinal pigmentation (HP:0007703) help
..expandAngioid streaks of the fundus (HP:0001102) help
..expandAplasia/Hypoplasia of the retina (HP:0008061) help
..expandHypermyelinated retinal nerve fibers (HP:0007922) help
..expandIntraretinal fluid (HP:0031527) help
..expandRetinal coloboma (HP:0000480) help
..expandRetinal degeneration (HP:0000546) help
..expandRetinal detachment (HP:0000541) help
..expandRetinal dysplasia (HP:0007973) help
..expandRetinal dystrophy (HP:0000556) help
..expandRetinal fold (HP:0008052) help
..expandRetinal hamartoma (HP:0009594) help
..expandRetinal hemorrhage (HP:0000573) help
..expandRetinal infarction (HP:0007866) help
..expandRetinal neoplasm (HP:0012777) help
..expandRetinal perforation (HP:0011958) help
..expandRetinal thinning (HP:0030329) help
..expandRetinopathy (HP:0000488) help
..expandRetinoschisis (HP:0030502) help
..expandSubretinal deposits (HP:0031528) help
..expandSubretinal fluid (HP:0031526) help
..expandYellow/white lesions of the retina (HP:0030506) 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:0031531HP:0031531Sub-RPE deposits0C1QTNF5 CL E G H11490214344OMIM:605670Late-Onset retinal degeneration.20
HP:0031531HP:0031532Focal sub-RPE deposits1 CL E G H
HP:0031531HP:0031533Multifocal sub-RPE deposits1 CL E G H


Genes (1) :C1QTNF5

Diseases (1) :OMIM:605670
 

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