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 electroretinogram (HP:0000512)

Parent Node:
Abnormal full-field electroretinogram (HP:0030466)

..Starting node
..Abnormal light- and dark-adapted electroretinogram (HP:0008323)

Term ID:

8323

Name:

Abnormal light- and dark-adapted electroretinogram

Synonym:

Abnormal rod and cone electroretinogram

Definition:

An abnormality of the combined rod-and-cone response on electroretinogram.

Comments:

Reference:

HP:0008323

Genes and Diseases:

Child Nodes:

........

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

........

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

Sister Nodes:

Abnormal dark-adapted electroretinogram (HP:0030469)

Abnormal light-adapted electroretinogram (HP:0008275)

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:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4		114
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB		182
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3		58
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26		71
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61		60
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy		126
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46		30
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10		52
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14		62
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37		58
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome		11
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40	.	126
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1		172
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12		110
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	159
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	32
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44		28
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1		107
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	107
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	47
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9		14
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13		109
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47		32
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.	41
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0008323	HP:0008323	Abnormal light- and dark-adapted electroretinogram	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.	27
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	116
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.	114
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB		182
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26		71
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61		60
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent	126
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.	124
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46		30
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.	52
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.	62
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.	58
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	7
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional	11
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.	172
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44		28
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1	.	107
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.	111
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	.	14
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0008323	HP:0007688	Undetectable light- and dark-adapted electroretinogram	1	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13		109
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47		32
HP:0008323	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19

Genes (38) :ACOX1 ADAR AIPL1 ALG3 ATP6 BEST1 CACNA1F CERKL CLRN1 CYP4V2 GUCY2D IDH3B IDS IMPDH1 LARGE1 LRAT MCOLN1 MFRP NR2E3 NUP62 PCYT1A PDE6B POMGNT1 PPT1 PROM1 PRPH2 RDH5 RGR RHO RLBP1 RP1 RP9 RPE65 RPGRIP1 SAG TTC8 USP45 ZNF513

Diseases (35) :OMIM:264470 ORPHA:225154 OMIM:604393 OMIM:601110 OMIM:611809 OMIM:300476 OMIM:608380 OMIM:614180 ORPHA:41751 OMIM:204000 OMIM:612572 ORPHA:217093 ORPHA:217085 OMIM:180105 OMIM:608840 OMIM:613341 OMIM:252650 OMIM:611040 OMIM:611131 ORPHA:85167 OMIM:613801 OMIM:253280 OMIM:256730 OMIM:612657 ORPHA:52427 OMIM:613769 OMIM:610445 OMIM:180100 OMIM:180104 OMIM:204100 OMIM:608194 OMIM:613758 OMIM:613464 OMIM:618513 OMIM:613617

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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