Human Phenotype Ontology 
Grandparent Node:
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Abnormal fundus morphology (HP:0001098)help
Parent Node:
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Abnormality of fundus pigmentation (HP:0031605)help
..Starting node
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Hyperpigmentation of the fundus (HP:0011512)help
Term ID: 11512
Name: Hyperpigmentation of the fundus
Synonym: Hyperpigmented fundi; Hyperpigmented fundus
Definition: Increased pigmentation of the fundus
Comments:
Reference: HP:0011512
Genes and Diseases:
 
       Child Nodes:
........expandCongenital hypertrophy of retinal pigment epithelium (HP:0007649) help
................... HP:0011528 Solitary congenital hypertrophy of retinal pigment epithelium
................... HP:0011529 Multiple bilateral congenital hypertrophy of retinal pigment epithelium
................... HP:0030504 Grouped congenital hypertrophy of retinal pigment epithelium
........expandLarge hyperpigmented retinal spots (HP:0007658) help
........expandReticular pigmentary degeneration (HP:0007937) help

 Sister Nodes: 
..expandHypopigmentation of the fundus (HP:0007894) 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:0011512HP:0011512Hyperpigmentation of the fundus0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0011512HP:0011512Hyperpigmentation of the fundus0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0011512HP:0011512Hyperpigmentation of the fundus0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0011512HP:0011512Hyperpigmentation of the fundus0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0011512HP:0011512Hyperpigmentation of the fundus0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040281 - Very frequent3179
HP:0011512HP:0011512Hyperpigmentation of the fundus0CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory6
HP:0011512HP:0011512Hyperpigmentation of the fundus0CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0011512HP:0011512Hyperpigmentation of the fundus0CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0011512HP:0011512Hyperpigmentation of the fundus0EFEMP1 CL E G H22023218OMIM:126600Doyne honeycomb retinal dystrophy54
HP:0011512HP:0011512Hyperpigmentation of the fundus0EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0011512HP:0011512Hyperpigmentation of the fundus0MUTYH CL E G H45957527ORPHA:247798MUTYH-related attenuated familial adenomatous polyposis592
HP:0011512HP:0011512Hyperpigmentation of the fundus0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndrome40
HP:0011512HP:0007649Congenital hypertrophy of retinal pigment epithelium1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0011512HP:0007649Congenital hypertrophy of retinal pigment epithelium1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0011512HP:0007649Congenital hypertrophy of retinal pigment epithelium1APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040282 - Frequent3179
HP:0011512HP:0007649Congenital hypertrophy of retinal pigment epithelium1APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040282 - Frequent3179
HP:0011512HP:0007658Large hyperpigmented retinal spots1CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory.6
HP:0011512HP:0007937Reticular pigmentary degeneration1CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040281 - Very frequent86
HP:0011512HP:0007937Reticular pigmentary degeneration1CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040281 - Very frequent57
HP:0011512HP:0007937Reticular pigmentary degeneration1EFEMP1 CL E G H22023218OMIM:126600Doyne honeycomb retinal dystrophy.54
HP:0011512HP:0007937Reticular pigmentary degeneration1EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040281 - Very frequent54
HP:0011512HP:0007649Congenital hypertrophy of retinal pigment epithelium1MUTYH CL E G H45957527ORPHA:247798MUTYH-related attenuated familial adenomatous polyposisHP:0040284 - Very rare592
HP:0011512HP:0007937Reticular pigmentary degeneration1POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0011512HP:0030504Grouped congenital hypertrophy of retinal pigment epithelium2 CL E G H
HP:0011512HP:0011529Multiple bilateral congenital hypertrophy of retinal pigment epithelium2 CL E G H
HP:0011512HP:0011528Solitary congenital hypertrophy of retinal pigment epithelium2 CL E G H


Genes (7) :APC CAPN5 CFH CFI EFEMP1 MUTYH POU3F4

Diseases (10) :OMIM:175100 ORPHA:247806 ORPHA:261584 ORPHA:79665 ORPHA:99818 OMIM:193235 ORPHA:75376 OMIM:126600 ORPHA:247798 ORPHA:1435
 

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