Human Phenotype Ontology 
Grandparent Node:
expand
Chorioretinal degeneration (HP:0200065)help
Parent Node:
expand
Chorioretinal atrophy (HP:0000533)help
..Starting node
..expand
Peripapillary chorioretinal atrophy (HP:0007950)help
Term ID: 7950
Name: Peripapillary chorioretinal atrophy
Synonym:
Definition: Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).
Comments:
Reference: HP:0007950
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChoriocapillaris atrophy (HP:0030491) help
..expandParavenous chorioretinal atrophy (HP:0007903) 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:0007950HP:0007950Peripapillary chorioretinal atrophy0CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040283 - Occasional86
HP:0007950HP:0007950Peripapillary chorioretinal atrophy0CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040283 - Occasional57
HP:0007950HP:0007950Peripapillary chorioretinal atrophy0EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040283 - Occasional54
HP:0007950HP:0007950Peripapillary chorioretinal atrophy0NRL CL E G H49018002OMIM:613750Retinitis pigmentosa 27.30
HP:0007950HP:0007950Peripapillary chorioretinal atrophy0TEAD1 CL E G H700311714OMIM:108985Sveinsson chorioretinal atrophy.1


Genes (5) :CFH CFI EFEMP1 NRL TEAD1

Diseases (3) :ORPHA:75376 OMIM:613750 OMIM:108985
 

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