Human Phenotype Ontology 
Grandparent Node:
expandAbnormal retinal morphology (HP:0000479)help
Parent Node:
expandRetinal dystrophy (HP:0000556)help
..Starting node
..expandPattern dystrophy of the retina (HP:0007963)help
Term ID: 7963
Name: Pattern dystrophy of the retina
Synonym:
Definition: A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).
Comments:
Reference: HP:0007963
Genes and Diseases:
 
       Child Nodes:
........expandReticular retinal dystrophy (HP:0007913) help

 Sister Nodes: 
..expandChorioretinal dystrophy (HP:0001135) help
..expandCone/cone-rod dystrophy (HP:0000548) help
..expandCongenital stationary night blindness (HP:0007642) help
..expandMacular dystrophy (HP:0007754) help
..expandRetinal dystrophy with early macular involvement (HP:0030635) help
..expandRod-cone dystrophy (HP:0000510) 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:0007963HP:0007963Pattern dystrophy of the retina0PRPH2 CL E G H59619942OMIM:169150Macular dystrophy, patterned, 1.159
HP:0007963HP:0007913Reticular retinal dystrophy1PRPH2 CL E G H59619942OMIM:169150Macular dystrophy, patterned, 1.159


Genes (1) :PRPH2

Diseases (1) :OMIM:169150
 

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