Human Phenotype Ontology 
Grandparent Node:
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Abnormal full-field electroretinogram (HP:0030466)help
Parent Node:
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Abnormal dark-adapted electroretinogram (HP:0030469)help
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Abnormal dark-adapted bright flash electroretinogram (HP:0030470)help
Term ID: 30470
Name: Abnormal dark-adapted bright flash electroretinogram
Synonym:
Definition:
Comments:
Reference: HP:0030470
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal timing of dark-adapted bright flash electroretinogram (HP:0030477) help
........expandAbnormal amplitude of dark-adapted bright flash electroretinogram (HP:0030478) help
................... HP:0007984 Electronegative electroretinogram
................... HP:0030483 Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
................... HP:0030484 Supernormal dark-adapted bright flash electroretinogram b-wave

 Sister Nodes: 
..expandAbnormal dark-adapted dim flash electroretinogram (HP:0030471) help
..expandUndetectable dark-adapted electroretinogram (HP:0030474) 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:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindness94
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindness58
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindness129
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindness39
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindness5
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindness124
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindness4
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0GRK1 CL E G H601110013ORPHA:75382Oguchi disease4
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindness63
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindness54
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0NYX CL E G H605068082ORPHA:215Congenital stationary night blindness42
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindness126
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0RHO CL E G H601010012ORPHA:215Congenital stationary night blindness107
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophy47
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0SAG CL E G H629510521ORPHA:215Congenital stationary night blindness32
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0SAG CL E G H629510521ORPHA:75382Oguchi disease32
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindness66
HP:0030470HP:0030470Abnormal dark-adapted bright flash electroretinogram0TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindness104
HP:0030470HP:0030477Abnormal timing of dark-adapted bright flash electroretinogram1 CL E G H
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindness94
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindness58
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindness129
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindness39
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindness5
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindness124
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindness4
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1GRK1 CL E G H601110013ORPHA:75382Oguchi disease4
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindness63
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindness54
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1NYX CL E G H605068082ORPHA:215Congenital stationary night blindness42
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindness126
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1RHO CL E G H601010012ORPHA:215Congenital stationary night blindness107
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophy47
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1SAG CL E G H629510521ORPHA:215Congenital stationary night blindness32
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1SAG CL E G H629510521ORPHA:75382Oguchi disease32
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindness66
HP:0030470HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram1TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindness104
HP:0030470HP:0030484Supernormal dark-adapted bright flash electroretinogram b-wave2 CL E G H
HP:0030470HP:0007984Electronegative electroretinogram2ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0030470HP:0007984Electronegative electroretinogram2CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional94
HP:0030470HP:0007984Electronegative electroretinogram2CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional94
HP:0030470HP:0007984Electronegative electroretinogram2CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional58
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional58
HP:0030470HP:0007984Electronegative electroretinogram2CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0030470HP:0007984Electronegative electroretinogram2CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional129
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional129
HP:0030470HP:0007984Electronegative electroretinogram2CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional39
HP:0030470HP:0007984Electronegative electroretinogram2GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional39
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional5
HP:0030470HP:0007984Electronegative electroretinogram2GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional5
HP:0030470HP:0007984Electronegative electroretinogram2GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional124
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional124
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional4
HP:0030470HP:0007984Electronegative electroretinogram2GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional4
HP:0030470HP:0007984Electronegative electroretinogram2GRK1 CL E G H601110013ORPHA:75382Oguchi diseaseHP:0040281 - Very frequent4
HP:0030470HP:0007984Electronegative electroretinogram2GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional63
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional63
HP:0030470HP:0007984Electronegative electroretinogram2LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional54
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional54
HP:0030470HP:0007984Electronegative electroretinogram2NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional42
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional42
HP:0030470HP:0007984Electronegative electroretinogram2PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional126
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional126
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional107
HP:0030470HP:0007984Electronegative electroretinogram2RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional107
HP:0030470HP:0007984Electronegative electroretinogram2RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040283 - Occasional47
HP:0030470HP:0007984Electronegative electroretinogram2RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0030470HP:0007984Electronegative electroretinogram2SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional32
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional32
HP:0030470HP:0007984Electronegative electroretinogram2SAG CL E G H629510521ORPHA:75382Oguchi diseaseHP:0040281 - Very frequent32
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional66
HP:0030470HP:0007984Electronegative electroretinogram2SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional66
HP:0030470HP:0007984Electronegative electroretinogram2TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional104
HP:0030470HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave2TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional104


Genes (19) :ABCA4 CABP4 CACNA1F CACNA2D4 CFAP418 GNAT1 GNB3 GPR179 GRK1 GRM6 LRIT3 NYX PDE6B RHO RLBP1 RS1 SAG SLC24A1 TRPM1

Diseases (9) :OMIM:604116 OMIM:610427 ORPHA:215 OMIM:300071 OMIM:610478 OMIM:617406 ORPHA:75382 ORPHA:85128 OMIM:312700
 

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