Human Phenotype Ontology 
Grandparent Node:
expand
Nyctalopia (HP:0000662)help
Grandparent Node:
expand
Retinal dystrophy (HP:0000556)help
Parent Node:
expand
Congenital stationary night blindness (HP:0007642)help
..Starting node
..expand
Congenital stationary night blindness with normal fundus (HP:0030638)help
Term ID: 30638
Name: Congenital stationary night blindness with normal fundus
Synonym:
Definition:
Comments:
Reference: HP:0030638
Genes and Diseases:
 
       Child Nodes:
........expandComplete congenital stationary night blindness (HP:0030640) help
........expandIncomplete congenital stationary night blindness (HP:0030641) help

 Sister Nodes: 
..expandCongenital stationary night blindness with abnormal fundus (HP:0030639) 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:0030638HP:0030638Congenital stationary night blindness with normal fundus0CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent94
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent58
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent129
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent39
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent5
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent124
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent4
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent63
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent54
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent42
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent126
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent107
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent32
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent66
HP:0030638HP:0030638Congenital stationary night blindness with normal fundus0TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent104
HP:0030638HP:0030641Incomplete congenital stationary night blindness1 CL E G H
HP:0030638HP:0030640Complete congenital stationary night blindness1 CL E G H


Genes (15) :CABP4 CACNA1F CACNA2D4 GNAT1 GNB3 GPR179 GRK1 GRM6 LRIT3 NYX PDE6B RHO SAG SLC24A1 TRPM1

Diseases (1) :ORPHA:215
 

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