Human Phenotype Ontology 
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Abnormal electroretinogram (HP:0000512)help
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Abnormal full-field electroretinogram (HP:0030466)help
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Abnormal dark-adapted electroretinogram (HP:0030469)help
Term ID: 30469
Name: Abnormal dark-adapted electroretinogram
Synonym:
Definition:
Comments:
Reference: HP:0030469
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal dark-adapted bright flash electroretinogram (HP:0030470) help
................... HP:0030477 Abnormal timing of dark-adapted bright flash electroretinogram
................... HP:0030478 Abnormal amplitude of dark-adapted bright flash electroretinogram
........expandAbnormal dark-adapted dim flash electroretinogram (HP:0030471) help
................... HP:0030475 Abnormal timing of dark-adapted dim flash electroretinogram
................... HP:0030476 Abnormal amplitude of dark-adapted dim flash electroretinogram
........expandUndetectable dark-adapted electroretinogram (HP:0030474) help

 Sister Nodes: 
..expandAbnormal light- and dark-adapted electroretinogram (HP:0008323) help
..expandAbnormal light-adapted electroretinogram (HP:0008275) 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:0030469HP:0030469Abnormal dark-adapted electroretinogram0ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent94
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent58
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent129
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent39
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent5
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent124
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent4
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0GRK1 CL E G H601110013ORPHA:75382Oguchi disease4
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent63
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent54
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent42
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent126
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent107
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040281 - Very frequent47
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent32
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0SAG CL E G H629510521ORPHA:75382Oguchi disease32
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent66
HP:0030469HP:0030469Abnormal dark-adapted electroretinogram0TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent104
HP:0030469HP:0030471Abnormal dark-adapted dim flash electroretinogram1 CL E G H
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindness94
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindness58
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindness129
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindness39
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindness5
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindness124
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindness4
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1GRK1 CL E G H601110013ORPHA:75382Oguchi disease4
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindness63
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindness54
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1NYX CL E G H605068082ORPHA:215Congenital stationary night blindness42
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindness126
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1RHO CL E G H601010012ORPHA:215Congenital stationary night blindness107
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophy47
HP:0030469HP:0030474Undetectable dark-adapted electroretinogram1RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040281 - Very frequent47
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1SAG CL E G H629510521ORPHA:215Congenital stationary night blindness32
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1SAG CL E G H629510521ORPHA:75382Oguchi disease32
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindness66
HP:0030469HP:0030470Abnormal dark-adapted bright flash electroretinogram1TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindness104
HP:0030469HP:0030476Abnormal amplitude of dark-adapted dim flash electroretinogram2 CL E G H
HP:0030469HP:0030475Abnormal timing of dark-adapted dim flash electroretinogram2 CL E G H
HP:0030469HP:0030477Abnormal timing of dark-adapted bright flash electroretinogram2 CL E G H
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindness94
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindness58
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindness129
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindness39
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindness5
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindness124
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindness4
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2GRK1 CL E G H601110013ORPHA:75382Oguchi disease4
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindness63
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindness54
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2NYX CL E G H605068082ORPHA:215Congenital stationary night blindness42
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindness126
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2RHO CL E G H601010012ORPHA:215Congenital stationary night blindness107
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophy47
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2SAG CL E G H629510521ORPHA:215Congenital stationary night blindness32
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2SAG CL E G H629510521ORPHA:75382Oguchi disease32
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindness66
HP:0030469HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram2TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindness104
HP:0030469HP:0030484Supernormal dark-adapted bright flash electroretinogram b-wave3 CL E G H
HP:0030469HP:0007984Electronegative electroretinogram3ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0030469HP:0007984Electronegative electroretinogram3CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional94
HP:0030469HP:0007984Electronegative electroretinogram3CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional94
HP:0030469HP:0007984Electronegative electroretinogram3CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional58
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional58
HP:0030469HP:0007984Electronegative electroretinogram3CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional129
HP:0030469HP:0007984Electronegative electroretinogram3CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional129
HP:0030469HP:0007984Electronegative electroretinogram3CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030469HP:0007984Electronegative electroretinogram3GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional39
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional39
HP:0030469HP:0007984Electronegative electroretinogram3GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional5
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional5
HP:0030469HP:0007984Electronegative electroretinogram3GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional124
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional124
HP:0030469HP:0007984Electronegative electroretinogram3GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional4
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional4
HP:0030469HP:0007984Electronegative electroretinogram3GRK1 CL E G H601110013ORPHA:75382Oguchi diseaseHP:0040281 - Very frequent4
HP:0030469HP:0007984Electronegative electroretinogram3GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional63
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional63
HP:0030469HP:0007984Electronegative electroretinogram3LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional54
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional54
HP:0030469HP:0007984Electronegative electroretinogram3NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional42
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional42
HP:0030469HP:0007984Electronegative electroretinogram3PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional126
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional126
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional107
HP:0030469HP:0007984Electronegative electroretinogram3RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional107
HP:0030469HP:0007984Electronegative electroretinogram3RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040283 - Occasional47
HP:0030469HP:0007984Electronegative electroretinogram3RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional32
HP:0030469HP:0007984Electronegative electroretinogram3SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional32
HP:0030469HP:0007984Electronegative electroretinogram3SAG CL E G H629510521ORPHA:75382Oguchi diseaseHP:0040281 - Very frequent32
HP:0030469HP:0007984Electronegative electroretinogram3SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional66
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional66
HP:0030469HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave3TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional104
HP:0030469HP:0007984Electronegative electroretinogram3TRPM1 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.