Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of fundus pigmentation (HP:0031605)help
Parent Node:
expandHypopigmentation of the fundus (HP:0007894)help
..Starting node
..expandAchromatic retinal patches (HP:0009727)help
Term ID: 9727
Name: Achromatic retinal patches
Synonym: Punched out areas of chorioretinal hypopigmentation
Definition: Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina.
Comments:
Reference: HP:0009727
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent retinal pigment epithelium (HP:0007980) help
..expandDepigmented fundus (HP:0007680) 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:0009727HP:0009727Achromatic retinal patches0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0009727HP:0009727Achromatic retinal patches0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0009727HP:0009727Achromatic retinal patches0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738


Genes (3) :IFNG TSC1 TSC2

Diseases (2) :OMIM:613254 OMIM:191100
 

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