Human Phenotype Ontology 
Grandparent Node:
expandAbnormal retinal morphology (HP:0000479)help
Parent Node:
expandRetinal degeneration (HP:0000546)help
..Starting node
..expandRetinitis pigmentosa inversa (HP:0008035)help
Term ID: 8035
Name: Retinitis pigmentosa inversa
Synonym: Central retinitis pigmentosa
Definition: Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).
Comments:
Reference: HP:0008035
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCone dystrophy (HP:0008020) help
..expandMacular degeneration (HP:0000608) help
..expandobsolete Tapetoretinal degeneration (HP:0000547) help
..expandobsolete Vitreoretinal degeneration (HP:0000655) help
..expandPeripheral retinal degeneration (HP:0007769) help
..expandRetinal atrophy (HP:0001105) 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:0008035HP:0008035Retinitis pigmentosa inversa0ABCA4 CL E G H2434OMIM:248200Stargardt disease 1.826


Genes (1) :ABCA4

Diseases (1) :OMIM:248200
 

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