Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal retinal morphology (HP:0000479)help
Parent Node:
expand
Retinal degeneration (HP:0000546)help
..Starting node
..expand
Peripheral retinal degeneration (HP:0007769)help
Term ID: 7769
Name: Peripheral retinal degeneration
Synonym:
Definition:
Comments:
Reference: HP:0007769
Genes and Diseases:
 
       Child Nodes:
........expandPeripheral cystoid retinal degeneration (HP:0007667) help
........expandPeripheral retinal cone degeneration (HP:0007782) help
........expandReticular pigmentary degeneration (HP:0007937) help
........expandLattice retinal degeneration (HP:0007992) help
........expandSnowflake vitreoretinal degeneration (HP:0011533) help

 Sister Nodes: 
..expandCone dystrophy (HP:0008020) help
..expandMacular degeneration (HP:0000608) help
..expandobsolete Tapetoretinal degeneration (HP:0000547) help
..expandobsolete Vitreoretinal degeneration (HP:0000655) help
..expandRetinal atrophy (HP:0001105) help
..expandRetinitis pigmentosa inversa (HP:0008035) 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:0007769HP:0007769Peripheral retinal degeneration0CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0007769HP:0007769Peripheral retinal degeneration0CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0007769HP:0007769Peripheral retinal degeneration0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasia284
HP:0007769HP:0007769Peripheral retinal degeneration0COL2A1 CL E G H12802200OMIM:619248VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED284
HP:0007769HP:0007769Peripheral retinal degeneration0EFEMP1 CL E G H22023218OMIM:126600Doyne honeycomb retinal dystrophy54
HP:0007769HP:0007769Peripheral retinal degeneration0EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0007769HP:0007769Peripheral retinal degeneration0KCNJ13 CL E G H37696259OMIM:193230Snowflake vitreoretinal degeneration42
HP:0007769HP:0007769Peripheral retinal degeneration0P3H2 CL E G H5521419317OMIM:614292Myopia, high, with cataract and vitreoretinal degeneration5
HP:0007769HP:0007769Peripheral retinal degeneration0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndrome40
HP:0007769HP:0007769Peripheral retinal degeneration0RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0007769HP:0007937Reticular pigmentary degeneration1CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040281 - Very frequent86
HP:0007769HP:0007937Reticular pigmentary degeneration1CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040281 - Very frequent57
HP:0007769HP:0007992Lattice retinal degeneration1COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040282 - Frequent284
HP:0007769HP:0007992Lattice retinal degeneration1COL2A1 CL E G H12802200OMIM:619248VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED284
HP:0007769HP:0007937Reticular pigmentary degeneration1EFEMP1 CL E G H22023218OMIM:126600Doyne honeycomb retinal dystrophy.54
HP:0007769HP:0007937Reticular pigmentary degeneration1EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040281 - Very frequent54
HP:0007769HP:0011533Snowflake vitreoretinal degeneration1KCNJ13 CL E G H37696259OMIM:193230Snowflake vitreoretinal degeneration42
HP:0007769HP:0007992Lattice retinal degeneration1P3H2 CL E G H5521419317OMIM:614292Myopia, high, with cataract and vitreoretinal degeneration5
HP:0007769HP:0007937Reticular pigmentary degeneration1POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0007769HP:0007667Peripheral cystoid retinal degeneration1RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile.148


Genes (8) :CFH CFI COL2A1 EFEMP1 KCNJ13 P3H2 POU3F4 RS1

Diseases (8) :ORPHA:75376 ORPHA:485 OMIM:619248 OMIM:126600 OMIM:193230 OMIM:614292 ORPHA:1435 OMIM:312700
 

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