Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal dark-adapted electroretinogram (HP:0030469)

Parent Node:
Abnormal dark-adapted bright flash electroretinogram (HP:0030470)

..Starting node
..Abnormal amplitude of dark-adapted bright flash electroretinogram (HP:0030478)

Term ID:

30478

Name:

Abnormal amplitude of dark-adapted bright flash electroretinogram

Synonym:

Definition:

Comments:

Reference:

HP:0030478

Genes and Diseases:

Child Nodes:

........

Electronegative electroretinogram (HP:0007984)

........

Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)

........

Supernormal dark-adapted bright flash electroretinogram b-wave (HP:0030484)

Sister Nodes:

Abnormal timing of dark-adapted bright flash electroretinogram (HP:0030477)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive		94
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness		94
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness		58
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A		58
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness		129
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4		129
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness		39
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness		5
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness		124
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness		4
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease		4
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness		63
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness		54
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness		42
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness		126
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness		107
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy		47
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile		148
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness		32
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease		32
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness		66
HP:0030478	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness		104
HP:0030478	HP:0030484	Supernormal dark-adapted bright flash electroretinogram b-wave	1	CL E G H
HP:0030478	HP:0007984	Electronegative electroretinogram	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0030478	HP:0007984	Electronegative electroretinogram	1	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive		94
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	94
HP:0030478	HP:0007984	Electronegative electroretinogram	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	94
HP:0030478	HP:0007984	Electronegative electroretinogram	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	58
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	58
HP:0030478	HP:0007984	Electronegative electroretinogram	1	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A		58
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	129
HP:0030478	HP:0007984	Electronegative electroretinogram	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	129
HP:0030478	HP:0007984	Electronegative electroretinogram	1	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4		129
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	39
HP:0030478	HP:0007984	Electronegative electroretinogram	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	39
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	5
HP:0030478	HP:0007984	Electronegative electroretinogram	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	5
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	124
HP:0030478	HP:0007984	Electronegative electroretinogram	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	124
HP:0030478	HP:0007984	Electronegative electroretinogram	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	4
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	4
HP:0030478	HP:0007984	Electronegative electroretinogram	1	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040281 - Very frequent	4
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	63
HP:0030478	HP:0007984	Electronegative electroretinogram	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	63
HP:0030478	HP:0007984	Electronegative electroretinogram	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	54
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	54
HP:0030478	HP:0007984	Electronegative electroretinogram	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	42
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	42
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	126
HP:0030478	HP:0007984	Electronegative electroretinogram	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	126
HP:0030478	HP:0007984	Electronegative electroretinogram	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	107
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	107
HP:0030478	HP:0007984	Electronegative electroretinogram	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional	47
HP:0030478	HP:0007984	Electronegative electroretinogram	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile		148
HP:0030478	HP:0007984	Electronegative electroretinogram	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	32
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	32
HP:0030478	HP:0007984	Electronegative electroretinogram	1	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040281 - Very frequent	32
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	66
HP:0030478	HP:0007984	Electronegative electroretinogram	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	66
HP:0030478	HP:0007984	Electronegative electroretinogram	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	104
HP:0030478	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	104

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.

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