Human Phenotype Ontology

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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 full-field electroretinogram (HP:0030466)

Parent Node:
Abnormal light- and dark-adapted electroretinogram (HP:0008323)

..Starting node
..Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)

Term ID:

654

Name:

Decreased light- and dark-adapted electroretinogram amplitude

Synonym:

Decreased amplitudes on flash visual electroretinogram; Decreased electroretinogram; Decreased electroretinogram amplitude; Decreased electroretinogram response; Decreased ERG amplitude; Flattened or absent electroretinogram; Reduced electroretinogram; Reduced ERG; Reduced or abolished electroretinogram

Definition:

Descreased amplitude of eletrical response upon electroretinography.

Comments:

Reference:

HP:0000654

Genes and Diseases:

Child Nodes:

Sister Nodes:

Undetectable light- and dark-adapted electroretinogram (HP:0007688)

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:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB		182
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent	126
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.	124
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46		30
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.	62
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.	172
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44		28
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1	.	107
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47		32
HP:0000654	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	0	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19

Genes (16) :ACOX1 ALG3 BEST1 CYP4V2 GUCY2D IDH3B IDS LARGE1 LRAT MCOLN1 POMGNT1 PPT1 RGR RHO SAG USP45

Diseases (17) :OMIM:264470 OMIM:601110 OMIM:611809 ORPHA:41751 OMIM:204000 OMIM:612572 ORPHA:217093 ORPHA:217085 OMIM:608840 OMIM:613341 OMIM:252650 OMIM:253280 OMIM:256730 OMIM:613769 OMIM:610445 OMIM:613758 OMIM:618513

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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