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 bright flash electroretinogram (HP:0030470)

Parent Node:
Abnormal amplitude of dark-adapted bright flash electroretinogram (HP:0030478)

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

Term ID:

30483

Name:

Reduced amplitude of dark-adapted bright flash electroretinogram a-wave

Synonym:

Definition:

An abnormal reduction in the amplitude of the a-wave.

Comments:

Reference:

HP:0030483

Genes and Diseases:

Child Nodes:

Sister Nodes:

Electronegative electroretinogram (HP:0007984)

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

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:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	94
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	58
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	129
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	39
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	5
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	124
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	4
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	63
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	54
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	42
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	126
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	107
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	32
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	66
HP:0030483	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	104

Genes (16) :CABP4 CACNA1F CACNA2D4 CFAP418 GNAT1 GNB3 GPR179 GRK1 GRM6 LRIT3 NYX PDE6B RHO SAG SLC24A1 TRPM1

Diseases (2) :ORPHA:215 OMIM:617406

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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