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 eye physiology (HP:0012373)

Parent Node:
Abnormal visual electrophysiology (HP:0030453)

..Starting node
..Abnormal electroretinogram (HP:0000512)

Term ID:

512

Name:

Abnormal electroretinogram

Synonym:

Abnormal electroretinography; Abnormal ERG; ERG abnormal

Definition:

Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.

Comments:

Reference:

HP:0000512

Genes and Diseases:

Child Nodes:

........

Undetectable electroretinogram (HP:0000550)

........

Abnormal full-field electroretinogram (HP:0030466)

................... HP:0008275 Abnormal light-adapted electroretinogram
................... HP:0008323 Abnormal light- and dark-adapted electroretinogram
................... HP:0030469 Abnormal dark-adapted electroretinogram

........

Abnormal pattern electroretinogram (HP:0030467)

................... HP:0030485 Abnormal amplitude of pattern electroretinogram
................... HP:0030486 Abnormal timing of pattern electroretinogram
................... HP:0030487 Abnormal P50/N95 ratio of pattern electroretinogram
................... HP:0030844 Undetectable pattern electroretinogram

........

Abnormal multifocal electroretinogram (HP:0030468)

................... HP:0030488 Abnormal central response of multifocal electroretinogram
................... HP:0030489 Abnormal paracentral response of multifocal electroretinogram

Sister Nodes:

Abnormal electrooculogram (HP:0030454)

Abnormality of visual evoked potentials (HP:0000649)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent		120
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000512	HP:0000512	Abnormal electroretinogram	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000512	HP:0000512	Abnormal electroretinogram	0	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040283 - Occasional		82
HP:0000512	HP:0000512	Abnormal electroretinogram	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0000512	HP:0000512	Abnormal electroretinogram	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000512	HP:0000512	Abnormal electroretinogram	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000512	HP:0000512	Abnormal electroretinogram	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		114
HP:0000512	HP:0000512	Abnormal electroretinogram	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		29
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		114
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		118
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		71
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		97
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		87
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		25
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		66
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		119
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.		182
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000512	HP:0000512	Abnormal electroretinogram	0	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent		58
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.		6
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25			5
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		342
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		342
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia	HP:0040281 - Very frequent		47
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45			164
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CNGB3 CL E G H	54714	2153	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		194
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		156
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		158
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7			158
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0000512	HP:0000512	Abnormal electroretinogram	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000512	HP:0000512	Abnormal electroretinogram	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000512	HP:0000512	Abnormal electroretinogram	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000512	HP:0000512	Abnormal electroretinogram	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000512	HP:0000512	Abnormal electroretinogram	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000512	HP:0000512	Abnormal electroretinogram	0	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000512	HP:0000512	Abnormal electroretinogram	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000512	HP:0000512	Abnormal electroretinogram	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000512	HP:0000512	Abnormal electroretinogram	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		64
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GNAT2 CL E G H	2780	4394	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		19
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent		7
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	.		7
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GUCA1A CL E G H	2978	4678	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		24
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		124
HP:0000512	HP:0000512	Abnormal electroretinogram	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000512	HP:0000512	Abnormal electroretinogram	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		99
HP:0000512	HP:0000512	Abnormal electroretinogram	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000512	HP:0000512	Abnormal electroretinogram	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		148
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		48
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		3
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		52
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000512	HP:0000512	Abnormal electroretinogram	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		61
HP:0000512	HP:0000512	Abnormal electroretinogram	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		42
HP:0000512	HP:0000512	Abnormal electroretinogram	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000512	HP:0000512	Abnormal electroretinogram	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000512	HP:0000512	Abnormal electroretinogram	0	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69			3
HP:0000512	HP:0000512	Abnormal electroretinogram	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000512	HP:0000512	Abnormal electroretinogram	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0000512	HP:0000512	Abnormal electroretinogram	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		70
HP:0000512	HP:0000512	Abnormal electroretinogram	0	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0000512	HP:0000512	Abnormal electroretinogram	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000512	HP:0000512	Abnormal electroretinogram	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		62
HP:0000512	HP:0000512	Abnormal electroretinogram	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0000512	HP:0000512	Abnormal electroretinogram	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000512	HP:0000512	Abnormal electroretinogram	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000512	HP:0000512	Abnormal electroretinogram	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000512	HP:0000512	Abnormal electroretinogram	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		4
HP:0000512	HP:0000512	Abnormal electroretinogram	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000512	HP:0000512	Abnormal electroretinogram	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0000512	HP:0000512	Abnormal electroretinogram	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040283 - Occasional		78
HP:0000512	HP:0000512	Abnormal electroretinogram	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000512	HP:0000512	Abnormal electroretinogram	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5			26
HP:0000512	HP:0000512	Abnormal electroretinogram	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		69
HP:0000512	HP:0000512	Abnormal electroretinogram	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		127
HP:0000512	HP:0000512	Abnormal electroretinogram	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000512	HP:0000512	Abnormal electroretinogram	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000512	HP:0000512	Abnormal electroretinogram	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		15
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.		144
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		85
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome			58
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000512	HP:0000512	Abnormal electroretinogram	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000512	HP:0000512	Abnormal electroretinogram	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000512	HP:0000512	Abnormal electroretinogram	0	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional		7
HP:0000512	HP:0000512	Abnormal electroretinogram	0	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional		5
HP:0000512	HP:0000512	Abnormal electroretinogram	0	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA			3
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54	.
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		11
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40			126
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDE6C CL E G H	5146	8787	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		80
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent		77
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		103
HP:0000512	HP:0000512	Abnormal electroretinogram	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000512	HP:0000512	Abnormal 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:0000512	HP:0000512	Abnormal electroretinogram	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36			39
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7	.		159
HP:0000512	HP:0000512	Abnormal electroretinogram	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		95
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		45
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000512	HP:0000512	Abnormal electroretinogram	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4	.		107
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RLBP1 CL E G H	6017	10024	OMIM:607475	Bothnia retinal dystrophy	.		47
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		10
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7	.		38
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		129
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		109
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000512	HP:0000512	Abnormal electroretinogram	0	RS1 CL E G H	6247	10457	ORPHA:792	X-linked retinoschisis	HP:0040281 - Very frequent		148
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		61
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040283 - Occasional		68
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		48
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SSBP1 CL E G H	6742	11317	OMIM:165510	Optic atrophy with negative electroretinograms	.
HP:0000512	HP:0000512	Abnormal electroretinogram	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy	.		95
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040283 - Occasional
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31			61
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		108
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		41
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51			41
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		66
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000512	HP:0000512	Abnormal electroretinogram	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000512	HP:0000512	Abnormal electroretinogram	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000512	HP:0000512	Abnormal electroretinogram	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000512	HP:0000512	Abnormal electroretinogram	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000512	HP:0000512	Abnormal electroretinogram	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000512	HP:0000512	Abnormal electroretinogram	0	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39	.		777
HP:0000512	HP:0000512	Abnormal electroretinogram	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000512	HP:0000512	Abnormal electroretinogram	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0000512	HP:0000512	Abnormal electroretinogram	0	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000512	HP:0000512	Abnormal electroretinogram	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome	.		47
HP:0000512	HP:0000512	Abnormal electroretinogram	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		60
HP:0000512	HP:0000512	Abnormal electroretinogram	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000512	HP:0000512	Abnormal electroretinogram	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	HP:0040283 - Occasional		149
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000512	HP:0000512	Abnormal electroretinogram	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0000512	HP:0000550	Undetectable electroretinogram	1	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000512	HP:0000550	Undetectable electroretinogram	1	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000512	HP:0000550	Undetectable electroretinogram	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0000512	HP:0000550	Undetectable electroretinogram	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000512	HP:0000550	Undetectable electroretinogram	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000512	HP:0000550	Undetectable electroretinogram	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.		156
HP:0000512	HP:0000550	Undetectable electroretinogram	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000512	HP:0000550	Undetectable electroretinogram	1	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7	.		158
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000512	HP:0000550	Undetectable electroretinogram	1	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000512	HP:0000550	Undetectable electroretinogram	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.		111
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000512	HP:0000550	Undetectable electroretinogram	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000512	HP:0000550	Undetectable electroretinogram	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000512	HP:0000550	Undetectable electroretinogram	1	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69	.	HP:0003596 - Middle age onset	3
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0000512	HP:0000550	Undetectable electroretinogram	1	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0000512	HP:0000550	Undetectable electroretinogram	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0000512	HP:0000550	Undetectable electroretinogram	1	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0000512	HP:0000550	Undetectable electroretinogram	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5			26
HP:0000512	HP:0000550	Undetectable electroretinogram	1	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.		516
HP:0000512	HP:0000550	Undetectable electroretinogram	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000512	HP:0000550	Undetectable electroretinogram	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000512	HP:0000550	Undetectable electroretinogram	1	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.		58
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0000512	HP:0000550	Undetectable electroretinogram	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.		30
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA			3
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40			126
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000512	HP:0000550	Undetectable electroretinogram	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000512	HP:0000550	Undetectable electroretinogram	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000512	HP:0000550	Undetectable electroretinogram	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0000512	HP:0000550	Undetectable electroretinogram	1	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36	.		39
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000512	HP:0000550	Undetectable electroretinogram	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000512	HP:0030468	Abnormal multifocal electroretinogram	1	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000512	HP:0000550	Undetectable electroretinogram	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000512	HP:0000550	Undetectable electroretinogram	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.		109
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000512	HP:0000550	Undetectable electroretinogram	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000512	HP:0030467	Abnormal pattern electroretinogram	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000512	HP:0000550	Undetectable electroretinogram	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.		203
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51			41
HP:0000512	HP:0030467	Abnormal pattern electroretinogram	1	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0000512	HP:0000550	Undetectable electroretinogram	1	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000512	HP:0000550	Undetectable electroretinogram	1	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.		173
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000512	HP:0030466	Abnormal full-field electroretinogram	1	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000512	HP:0030488	Abnormal central response of multifocal electroretinogram	2	CL E G H
HP:0000512	HP:0030487	Abnormal P50/N95 ratio of pattern electroretinogram	2	CL E G H
HP:0000512	HP:0030486	Abnormal timing of pattern electroretinogram	2	CL E G H
HP:0000512	HP:0030485	Abnormal amplitude of pattern electroretinogram	2	CL E G H
HP:0000512	HP:0030489	Abnormal paracentral response of multifocal electroretinogram	2	CL E G H
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		94
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		58
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		129
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		39
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		5
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		124
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		4
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		63
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		54
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.		26
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		42
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA	.		3
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		126
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40	.		126
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		159
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		32
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		107
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		107
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent		47
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		47
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000512	HP:0008275	Abnormal light-adapted electroretinogram	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		32
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		66
HP:0000512	HP:0030844	Undetectable pattern electroretinogram	2	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000512	HP:0030469	Abnormal dark-adapted electroretinogram	2	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		104
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0000512	HP:0030844	Undetectable pattern electroretinogram	2	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000512	HP:0008323	Abnormal light- and dark-adapted electroretinogram	2	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.		27
HP:0000512	HP:0030472	Abnormal light-adapted single flash electroretinogram	3	CL E G H
HP:0000512	HP:0030471	Abnormal dark-adapted dim flash electroretinogram	3	CL E G H
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		116
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0000512	HP:0030465	Undetectable light-adapted electroretinogram	3	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		10
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000512	HP:0030473	Abnormal light-adapted flicker electroretinogram	3	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0000512	HP:0030465	Undetectable light-adapted electroretinogram	3	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		82
HP:0000512	HP:0030465	Undetectable light-adapted electroretinogram	3	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000512	HP:0030465	Undetectable light-adapted electroretinogram	3	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		194
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent		126
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000512	HP:0030465	Undetectable light-adapted electroretinogram	3	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		19
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.		52
HP:0000512	HP:0030473	Abnormal light-adapted flicker electroretinogram	3	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.		58
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		7
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional		11
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000512	HP:0030465	Undetectable light-adapted electroretinogram	3	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		80
HP:0000512	HP:0030465	Undetectable light-adapted electroretinogram	3	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		14
HP:0000512	HP:0030473	Abnormal light-adapted flicker electroretinogram	3	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1	.		107
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000512	HP:0030474	Undetectable dark-adapted electroretinogram	3	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent		47
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.		111
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	.		14
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000512	HP:0030465	Undetectable light-adapted electroretinogram	3	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		200
HP:0000512	HP:0007688	Undetectable light- and dark-adapted electroretinogram	3	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000512	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	3	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000512	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000512	HP:0030480	Abnormal timing of light-adapted flicker electroretinogram	4	CL E G H
HP:0000512	HP:0030477	Abnormal timing of dark-adapted bright flash electroretinogram	4	CL E G H
HP:0000512	HP:0030476	Abnormal amplitude of dark-adapted dim flash electroretinogram	4	CL E G H
HP:0000512	HP:0030475	Abnormal timing of dark-adapted dim flash electroretinogram	4	CL E G H
HP:0000512	HP:0030482	Abnormal timing of light-adapted single flash electroretinogram	4	CL E G H
HP:0000512	HP:0030481	Abnormal amplitude of light-adapted single flash electroretinogram	4	CL E G H
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000512	HP:0030479	Abnormal amplitude of light-adapted flicker electroretinogram	4	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000512	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000512	HP:0030484	Supernormal dark-adapted bright flash electroretinogram b-wave	5	CL E G H
HP:0000512	HP:0007984	Electronegative electroretinogram	5	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000512	HP:0007984	Electronegative electroretinogram	5	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000512	HP:0007984	Electronegative electroretinogram	5	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		94
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		94
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		58
HP:0000512	HP:0007984	Electronegative electroretinogram	5	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		58
HP:0000512	HP:0007984	Electronegative electroretinogram	5	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000512	HP:0007984	Electronegative electroretinogram	5	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		129
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		129
HP:0000512	HP:0007984	Electronegative electroretinogram	5	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		39
HP:0000512	HP:0007984	Electronegative electroretinogram	5	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		39
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		5
HP:0000512	HP:0007984	Electronegative electroretinogram	5	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		5
HP:0000512	HP:0007984	Electronegative electroretinogram	5	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		124
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		124
HP:0000512	HP:0007984	Electronegative electroretinogram	5	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		4
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		4
HP:0000512	HP:0007984	Electronegative electroretinogram	5	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040281 - Very frequent		4
HP:0000512	HP:0007984	Electronegative electroretinogram	5	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		63
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		63
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		54
HP:0000512	HP:0007984	Electronegative electroretinogram	5	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		54
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		42
HP:0000512	HP:0007984	Electronegative electroretinogram	5	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		42
HP:0000512	HP:0007984	Electronegative electroretinogram	5	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		126
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		126
HP:0000512	HP:0007984	Electronegative electroretinogram	5	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		107
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		107
HP:0000512	HP:0007984	Electronegative electroretinogram	5	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0000512	HP:0007984	Electronegative electroretinogram	5	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		32
HP:0000512	HP:0007984	Electronegative electroretinogram	5	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		32
HP:0000512	HP:0007984	Electronegative electroretinogram	5	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040281 - Very frequent		32
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		66
HP:0000512	HP:0007984	Electronegative electroretinogram	5	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		66
HP:0000512	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		104
HP:0000512	HP:0007984	Electronegative electroretinogram	5	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		104

Genes (198) :ABCA4 ACOX1 ADAR ADGRV1 AGBL5 AGK AHI1 AHR AIPL1 ALG3 ARHGEF18 ARL2BP ARL3 ARL6 ARSG ATF6 ATP6 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CC2D2A CDH23 CDHR1 CEP104 CEP19 CEP290 CEP78 CERKL CFAP418 CHM CIB2 CLCC1 CLN3 CLN8 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CRB1 CRX CWC27 CYP4V2 DHDDS DHX38 EMC1 ESPN EYS FAM161A FLVCR1 FSCN2 GDF6 GNAT1 GNAT2 GNB3 GNB5 GPR179 GRK1 GRM6 GUCA1A GUCA1B GUCY2D HADHA HARS1 HGSNAT HSD17B4 IDH3A IDH3B IDS IFT140 IFT172 IFT27 IFT74 IFT88 IMPDH1 IMPG1 IMPG2 IQCB1 KCNJ13 KIAA1549 KIF3B KIZ KLHL7 LARGE1 LCA5 LRAT LRIT3 LZTFL1 MAK MCOLN1 MERTK MFRP MKKS MKS1 MYO7A NEK2 NMNAT1 NOTCH3 NPHP1 NR2E3 NRL NUP62 NYX OFD1 OPN1LW OPN1MW OPN1SW PCARE PCDH15 PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDZD7 PEX1 PEX12 PIEZO2 PNPLA6 POGZ POMGNT1 PPT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RBP3 RD3 RDH12 RDH5 REEP6 RGR RHO RLBP1 RNF216 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RS1 SAG SCAPER SDCCAG8 SEMA4A SLC24A1 SLC25A4 SLC7A14 SNRNP200 SPATA7 SSBP1 SUCLA2 TIMM8A TIMP3 TKFC TLCD3B TOPORS TPP1 TRIM32 TRNS2 TRPM1 TTC8 TTLL5 TUB TUBB4B TULP1 USH1C USH1G USH2A USP45 VSX1 WDPCP WHRN WWOX ZNF408 ZNF513 ZNF699

Diseases (127) :OMIM:604116 ORPHA:791 OMIM:601718 OMIM:264470 ORPHA:2971 ORPHA:225154 ORPHA:231178 ORPHA:1369 OMIM:608629 ORPHA:65 OMIM:604393 OMIM:601110 ORPHA:110 ORPHA:231183 ORPHA:49382 OMIM:611809 OMIM:153700 OMIM:613194 OMIM:610427 ORPHA:215 ORPHA:178333 OMIM:300476 OMIM:300071 OMIM:610478 OMIM:193235 OMIM:619845 ORPHA:231169 OMIM:616781 OMIM:608380 OMIM:617406 ORPHA:180 OMIM:609913 OMIM:204200 ORPHA:228346 ORPHA:1947 OMIM:614180 OMIM:216900 OMIM:613767 ORPHA:1871 OMIM:613835 OMIM:600105 OMIM:120970 OMIM:613829 ORPHA:166035 ORPHA:41751 OMIM:616875 OMIM:602772 OMIM:609033 ORPHA:542306 OMIM:617173 ORPHA:75382 OMIM:204000 ORPHA:5 OMIM:261515 OMIM:612572 ORPHA:217093 ORPHA:217085 OMIM:266920 OMIM:180105 OMIM:618955 OMIM:615780 OMIM:608840 OMIM:604537 ORPHA:364055 OMIM:613341 OMIM:252650 ORPHA:578 OMIM:611040 OMIM:276900 OMIM:608553 OMIM:619260 OMIM:125310 OMIM:268100 OMIM:611131 OMIM:613750 ORPHA:16 OMIM:190900 OMIM:613428 ORPHA:85167 OMIM:613810 OMIM:613801 OMIM:615665 OMIM:610024 OMIM:214100 OMIM:266510 OMIM:108145 ORPHA:1154 ORPHA:1173 OMIM:616364 OMIM:253280 OMIM:256730 OMIM:610599 OMIM:612657 OMIM:612095 OMIM:608133 ORPHA:52427 OMIM:613769 OMIM:610445 OMIM:613731 ORPHA:85128 OMIM:607475 OMIM:180100 OMIM:613587 OMIM:180104 OMIM:204100 OMIM:608194 OMIM:613826 OMIM:312700 ORPHA:792 OMIM:613758 OMIM:165510 ORPHA:1933 OMIM:304700 OMIM:136900 OMIM:619531 OMIM:609923 OMIM:204500 OMIM:613216 OMIM:613464 OMIM:615860 OMIM:600132 OMIM:613809 OMIM:618513 OMIM:614195 OMIM:616211 OMIM:613617 OMIM:619488

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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